ashg.org/2012meeting Discover Network Collaborate

Transcription

1 ashg.org/2012meeting Discover Network Collaborate

2 whole exome sequencing One Test More Answers Developed jointly by the Human Genome Sequencing Center (HGSC), the Department of Molecular and Human Genetics and the Medical Genetics Laboratories of the Baylor College of Medicine, the Whole Genome Sequencing Laboratory (WGL) applies the power of next generation sequencing technology to clinical genetics in a CLIA high complexity testing laboratory with clinical interpretation of the sequence information. Whole Exome Sequencing (WES) is poised to change the current paradigm of genetic testing for Mendelian disorders, pharmacogenetic traits, and potentially complex traits. Rather than limiting testing to a single gene or panel of genes and incurring diagnostic delays and escalating costs, the Whole Exome Sequencing test will sequence nucleotide by nucleotide, the human exome to the depth of coverage required to achieve a consensus sequence with high accuracy. Point mutations, small insertions and deletions of the exome are routinely detected by this methodology. The team curating the Whole Exome Sequencing test focuses the report on on known or predicted deleterious mutations in genes associated with patient s clinical problems; however, significant potentially medically actionable findings in other genes of interest as well as the option for reporting autosomal recessive carrier status are included in the focused whole exome report. One Baylor Plaza, Nab 2015, Houston, Texas gene (4363)

3 Welcome to the ASHG 62 nd Annual Meeting Name:

4 TABLE OF CONTENTS 2012 ASHG Board of Directors... 4 Welcome from the President ASHG Program Committee Members... 6 Welcome from the Program Chair ASHG Abstract Reviewers... 9 ASHG Administrative Offices/Staff Annual Meeting Support Advertisers Schedule of Scientific Sessions and Ancillary Events Trainee Track: Meeting within the Meeting Schedule Education Track Clinical Track Floor Plans and Maps Moscone Center (Convention Center) San Francisco Marriott Marquis Hotel (Headquarter Hotel) San Francisco Hotel Locator Map BART Metro System General Information About the Meeting Abstracts/Abstract Search Invited Sessions Plenary Session Presentations (abstract-driven) Platform Sessions (abstract-driven) Poster Sessions (abstract-driven) Mobile App/Mobile Web Site Social Media Session Tracks Registration, Badge and Program Pick up Registration Hours/Fees Replacement/Lost/Forgotten Badge Meeting Information, Services and Offices ASHG Office and Meeting Logistics ASHG Central/Membership Services Assistance for Attendees Attire/Dress Code Business Center Career/Employment Opportunities Cell Phone/Camera/Recording Policy CME/CEUs Exhibits/Exhibit Registration and Management Family/Nursing Mothers Room First Aid Food Service Housing/Hotels Information Internet Access/Cyber Cafè Luggage Storage and Coat Check... 51

5 TABLE OF CONTENTS 3 Message Center/Literature Tables Parking Prayer Room Press Office Registration Management/Registration Help Desk Restaurant/City Information Tours and Activities Speaker-Presentation/Upload Room Speaker Conflict of Interest Telephone Numbers for ASHG On-Site Offices Travel and Visitor Information Transportation/Getting Around Daily Meeting Highlights and Workshops Tuesday Wednesday Thursday Friday Saturday Charles Epstein Trainee Awards for Excellence in Human Genetics Research FASEB MARC TRAVEL AWARDEES INVITED, PLATFORM AND AWARD SESSIONS Session #1 through Session # Poster Sessions Exhibitors Floor Plan of Exhibit and Poster Area Alpha Listing of Exhibitors Product and Service Index Continuing Education (CEU/CME Credits) Speaker and Author Disclosures Speaker and Author Index Advertisements

6 AMERICAN SOCIETY OF HUMAN GENETICS DISCOVER EDUCATE ADVOCATE The American Society of Human Genetics (ASHG), founded in 1948, is the primary professional membership organization for human genetics specialists worldwide. ASHG serves research scientists, health professionals, and the public by providing forums to: Share research results at Annual Meetings and in The American Journal of Human Genetics; Advance genetic research by advocating for research support; Enhance genetics education by preparing future professionals and informing the public; and Promote genetic services and support responsible social and scientific policies. ASHG s nearly 8,000 members include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses and others who have a special interest in the field of human genetics. Members of ASHG entered the 21st century with a commitment to become fluent in the language of the genome, understand human variation, and promote the public health. As we transfer new knowledge to the next generation of genetics professionals and the public, we will translate new ideas into improved clinical practice. Visit the ASHG Web site for additional information: Board of Directors Mary-Claire King, President Jeffrey C. Murray, President-Elect Brendan Lee, Secretary Geoffrey M. Duyk, Treasurer Lynn B. Jorde, Past President 2011 Roderick R. McInnes, Past President 2010 David Nelson, Editor Directors: David M. Altshuler Stylianos E. Antonarakis Leslie G. Biesecker Vivian G. Cheung Nancy J. Cox Kay E. Davies Evan E. Eichler Richard A. Gibbs Neil J. Risch

7 WELCOME FROM THE PRESIDENT 5 Dear Fellow Members of ASHG, Welcome to our 2012 Annual Meeting. The theme for our meeting this year is The Scientist as a Citizen of the World. This theme was selected for two reasons. First, this year has been an extraordinarily productive one for human genetics research based in populations from all parts of the world. Human genetics is inherently a science without borders. Now, economic constraints notwithstanding, we have reached a moment in which the scientific work of our field is carried out in very large part by geneticists from the places of origin of populations being studied. Some of this work is internationally collaborative, and the projects are true, not token, joint efforts. Our field owes this rapid democratization in part to the virtually overnight dissemination of next generation sequencing technology, and in part to the cleverness of human geneticists worldwide who exploit this technology by inventively integrating local, regional, and international capacities. A little outsourcing goes a long way in the right hands. Results of international collaborations are integrated into every session of this ASHG meeting. I point out this feature of our meeting explicitly, because we take international collaboration so much for granted that we might not notice it otherwise. We are fortunate in this. It is not the way of the world as a whole. Second, what happens this week in the U.S. will have enormous consequences for us all. As human geneticists, we are in the privileged position of having far more awareness of the world than most of our fellow citizens (wherever we are originally from), and therefore the responsibility to try to help the next years be ones of progress for our communities. Collectively, we are many (more than 8000), with considerable intellectual influence, if not explicit political power, in our communities. We enjoy more autonomy than most in exercising that influence, in part because we have each other. ASHG is both our home for productive science and for forming friendships that transcend borders. Collaboration bridges conflict for far more people than those engaged in the science itself. So welcome to the 62nd ASHG Annual Meeting. Enjoy a lovely week in this beautiful city, greet old friends, make new friends, arrange a post-doc or a sabbatical year in a place not previously your own, and think of fine projects together. It is a great pleasure to see you here. With all best wishes, Mary-Claire King President, ASHG

8 6 PROGRAM COMMITTEE THE AMERICAN SOCIETY OF HUMAN GENETICS 62 ND Annual Meeting November 6 10, 2012 San Francisco, California ASHG gratefully acknowledges the expertise, hard work and dedication of the 2012 Program Committee ************************************ Program Committee Joel N. Hirschhorn, Chair Sally A. Camper Andrew G. Clark Tina M. Cowan Clair A. Francomano Chris Gunter Jonathan L. Haines Gail P. Jarvik Sekar Kathiresan Andrew S. McCallion Karen L. Mohlke Elaine A. Ostrander Barbara R. Pober Nazneen Rahman Michael R. Speicher Catherine A. Wicklund Alexander F. Wilson Nicolas Katsanis ************************************

9 7 WELCOME FROM THE PROGRAM CHAIR On behalf of the ASHG Program Committee and the Board of Directors, welcome to the Society s 62 nd Annual Meeting in San Francisco! The 2012 Program Committee has developed an exceptional program. This year, we received a record 3845 abstracts, from which 411 were chosen for plenary/platform oral presentations and over 3400 of the remaining abstracts are being presented as scientific posters. In addition, there are 24 invited scientific sessions, chosen from the 95 proposals submitted this year. The program committee has worked to assemble an exciting and outstanding scientific program that balances basic, translational, and clinical research with sessions that address timely issues. The schedule once again features separate tracks (trainees, clinical and educational) to help you select the sessions most relevant to your interests. The meeting begins on Tuesday at 4:00 pm with the Presidential Address The Scientist as a Citizen of the World by Mary-Claire King. The address will be streamed live on the ASHG Web site and will be followed by the plenary abstract presentations with topics including comparative epigenomics, early exome sequencing in complex traits, large-scale identification of enhancers and cis-acting regulators of translation, and integrated genetic and functional studies of disease-causing variants (see page 68 for details). Afterwards, we hope you join us to reconnect with friends and colleagues and make new connections at the Opening Mixer and Trainee Mixer-Within-A-Mixer starting at 7:00 pm in the San Francisco Marriott Marquis Hotel. Each day, you will have the opportunity to select from concurrent invited and platform presentations. Poster presentations will be held on each of three afternoons following the lunch period, and all posters will remain on display throughout the three days. The final session of the day on Wednesday is the invited Presidential Symposium entitled Gene Discovery and Patent Law: Present Experience in the US and in Europe. Please plan to join us from 4:30 pm until 6:30 pm to discuss the present state of gene patenting. Come prepared with your written questions for the well-known panelists: Hank Greely, Gert Matthijs, Mark Lemley and Lori Andrews. (See page 81 for further details). In response to survey requests from prior meeting attendees, the Program Committee lengthened the lunch break to 90 minutes and added evening workshops in a variety of topics. Workshops will cover interactive browser sessions (UCSC, Galaxy and Ensembl Browsers), NCBI databases (Sequence Read Archive, GenBank, GEO, dbsnp, dbvar and dbgap) and clinical interpretation of databases (such as DECIPHER,

10 8 WELCOME FROM THE PROGRAM CHAIR ISCA, DbVar). In addition, there will be a session on how scientists can use social media to benefit their career as well as a workshop on Diagnostic Dilemmas, with presentation of rare and unknown cases. The Society s Board of Directors and the Program Committee continue to share a strong commitment for trainee academic development. Therefore, this year, we have increased the value of trainee awards. The awards were also renamed to honor the late Charles J. Epstein. We continue to offer several events designed to assist our trainee members in their transition toward professional independence. These events include: (1) the Undergraduate Faculty Genetics Education Workshop, (2) the Trainee- Mentor Luncheon, (3) the Trainee Development Program and Networking Reception, and (4) a Mock NIH Study Section Workshop. Please refer to page 29 for the trainee meeting within the meeting schedule. The meeting will conclude on Saturday with a special closing symposium entitled, Human Genetics 2012 and Beyond: Present Progress and Future Frontiers, from 12:00 pm to 1:00 pm. This symposium will feature a panel of five outstanding geneticists with diverse perspectives: Han Brunner, Hal Dietz, Dian Donnai, Lynn Jorde, and Jay Shendure. The panel will address exciting advances presented at this year s meeting and will discuss the opportunities and challenges for the coming years. Attendees will have opportunities to ask questions of the panelists during the session in person and through social media. Chris Gunter will also pose relevant questions to attendees via social media during the meeting, and summarize the responses at the opening of the session. Feedback To determine whether the programmatic changes implemented were successful, and to gather suggestions for future meetings, we will be sending an online survey after the meeting to all attendees. Please take the time to complete the survey and provide us with valuable feedback that we can consider for future meetings. Acknowledgments Developing a program for the ASHG Annual Meeting is a complex process, requiring the coordinated efforts of many individuals over thousands of person-hours. A description of how the Program Committee puts together the scientific content of the meeting can be found on page 327. This past year, I have had the privilege of working with a truly exceptional Program Committee each member generously volunteering his/her expertise and time to develop an outstanding scientific program. I am also grateful to the Education, Social Issues, and Awards committees for their valuable contributions to the meeting. Finally, my deepest appreciation goes to our ASHG administrative staff (with a special note of thanks to Peggi McGovern, Pauline Minhinnett, and Dr. Joann Boughman) for their enthusiastic dedication and tireless work in making our Annual Meeting the success that it is. I hope that you enjoy the meeting, and again, a warm welcome to San Francisco! Joel N. Hirschhorn, MD, PhD 2012 Program Committee Chair Boston s Children s Hospital/Harvard Medical School Broad Institute

11 9 ABSTRACT REVIEWERS ASHG gratefully acknowledges the expertise, hard work and dedication of the 2012 Abstract Reviewers Kate G. Ackerman Laura Almasy Hans C. Andersson Stylianos E. Antonarakis Dimitrios Avramopoulos Blake C. Ballif David R. Beier Cecelia A. Bellcross Natalie Blagowidow Joann A. Boughman Sally A. Camper Rita M. Cantor Kimberly A. Chapman Andrew Clark Gregory M. Cooper Tina M. Cowan Gregory E. Crawford Dana C. Crawford Paul de Bakker Hal Dietz Michael J. Dougherty Flavia M. Facio Clair A. Francomano Thomas Glover Chris Gunter Jonathan L. Haines Robert Hegele Joel N. Hirschhorn Fuki M. Hisama Shama Jari Gail P. Jarvik Sekar Kathiresan Nicholas Katsanis Brendan J. Keating Katherine H. Kim Jan Korbel Beth A. Kozel Michael Lovett Richard Maas Christa Lese Martin Rasika A. Mathias Andy McCallion Nazli McDonnell Karen Mohlke Cynthia Morton Maximilian Muenke Christopher Newton-Cheh Rasmus Nielsen Elaine A. Ostrander Michael J. Parsons Robert Pilarski Robert M. Plenge Barbara R. Pober Nazneen Rahman Richard Redon Catherine A. Reiser Lawrence T. Reiter Nathaniel H. Robin Noah Rosenberg Richa Saxena William K. Scott Michael R. Speicher Beth A. Sullivan Tricia A. Thornton-Wells Luk H. Vandenberghe Catherine A. Wicklund Alexander F. Wilson Meredith Yeager

12 10 The American Society of Human Genetics 9650 Rockville Pike, Bethesda, Maryland Telephone: HUM-GENE Fax: or ASHG Web site: Annual Meeting Web site: Meetings, Registration and Exhibits Pauline Minhinnett, Director of Meetings; Peggi McGovern, Senior Meetings Associate/Registrar; Carrie Morin, Exhibits, Sponsorship and Advertising Manager, ASHG Administrative Office Jennifer Hobin, Interim Executive Officer; Karen Goodman, Executive Assistant; Education Department Michael J. Dougherty, Director of Education; Katherine Lontok, Education Programs Manager; Information Services Yimang Chen, Director, Information Technology; Ray Wolfe, System Support Engineer/Web Site Coordinator; Hubert Zhang, Systems Developer; Communications/Media Cathy Yarbrough, ASHG 2012 Communications Consultant; Accounting Chuck Windle, Director of Administration and Finance; Membership Mary Shih, Membership Manager; If you are unsure whom to contact, please and your inquiry will be forwarded to the appropriate person. See page 53 for a list of on-site telephone numbers and offices at the Convention Center during the 2012 ASHG Annual Meeting.

13 11 ANNUAL MEETING SUPPORT The American Society of Human Genetics gratefully acknowledges the following Annual Meeting supporters BIOBASE Galaxy Workshop: Working with High-Throughput Data and Data Visualization G3: Genes, Genomes, Genetics Educational Support Genzyme Corp. Cyber Café and WiFi Life Technologies Diagnostic Challenges: Review and Discussion of Unique Cases (Rare and Unknown) Roche Badge Holders

14 12 ADVERTISERS Affymetrix, Inc. (Booth 918) Back Cover ASHG Central (ASHG/AJHG) (Booth 913) Alphabetical, end of book, Page 421 ASHG 2012 Mobile App Alphabetical, end of book, Page 422 ASHG 2013 Call for Invited Sessions: Boston (Booth 913) Alphabetical, end of book, Page 423 American College of Medical Genetics and Genomics (Booth 318) Alphabetical, end of book, Page 424 Association of Professors of Human and Medical Genetics (APHMG) Alphabetical, end of book, Page 425 Baylor College of Medicine, Medical Genetics Laboratories (Booth 711) Inside Front Cover European Society of Human Genetics Conference 2013 (Booth 219) Alphabetical, end of book, Page 426 JAMA Network (Booth 1201) Facing Inside Back Cover Life Technologies (Booth 601) Inside Back Cover Natera (Booth 504) Alphabetical, end of book, Page 427 RainDance Technologies (Booth 910) Exhibit Hall Floor Plan Banner Sequenom, Inc. (Booth 519) Alphabetical, end of book, Page 428/429 Shire (Booth 600) Exhibits Tab Divider

15 NOTES

16 NOTES

17 15 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS Ancillary and satellite meetings, exhibitor or other special workshops, reunion/university receptions or meetings of editorial boards, committees, etc., are not official ASHG functions. Listings in bold face indicate the event is an ASHG-sponsored scientific session/event open only to scientific registrants. Indicates Trainee-focused events SCHEDULE Indicates Education-focused events Indicates Clinical-focused events (*)Asterisk denotes meetings/events that the organizer specified are by invitation or preregistration only. Otherwise, attendance may be assumed to be open to all registrants on a first-come, first-served basis. MONDAY, November 5 *3:00 PM - 8:00 PM *4:00 PM - 5:45 PM *6:00 PM - 9:00 PM *6:00 PM - 9:00 PM *6:00 PM - 9:00 PM ASHG Board of Directors Meeting #1 ABMG Finance Committee Meeting ABMG Accreditation Committee Meeting ABMG Credentials Committee Meeting ABMG MOC Committee Meeting TUESDAY, November 6 *7:30 AM - 4:00 PM 8:00 AM - 5:00 PM 8:00 AM - 4:00 PM *8:00 AM - 3:00 PM *8:00 AM - 3:30 PM *8:00 AM - 4:00 PM FSH Society Facioscapulohumeral Muscular Dystrophy [FSHD] 2012 International Research Consortium & Research Planning Meeting Exhibitor Registration Open Annual Meeting of the Society of Craniofacial Genetics and Developmental Biology: Stem Cells in Craniofacial Development and Disease ASHG Undergraduate Faculty Genetics Education Workshop (Advance registration required.) ABMG Board of Directors Meeting ACMG Board Meeting Marriott Marquis Hotel Foothill E, 2nd Level Marriott Marquis Hotel Pacific E, 4th Level Marriott Marquis Hotel Pacific D, 4th Level Marriott Marquis Hotel Pacific F, 4th Level Marriott Marquis Hotel Pacific E, 4th Level Marriott Marquis Hotel Club Room, 2nd Level Moscone Center South Lobby UCSF, Parnassus Campus Health Sciences West, Room 301 Moscone Center Room 300, Esplanade Level South Marriott Marquis Hotel Sierra I, 5th Level Marriott Marquis Hotel Sierra A, 5th Level

18 16 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS *8:30 AM - 2:30 PM 8:30 AM - 3:45 PM *9:00 AM - 1:00 PM 10:00 AM - 7:00 PM *10:00 AM - 3:00 PM 11:00 AM - 4:30 PM *11:00 AM - 1:00 PM *11:00 AM - 3:00 PM 12:00 PM - 4:00 PM *12:00 PM - 4:00 PM 1:00 PM - 4:00 PM 1:30 PM - 3:30 PM 2:00 PM - 4:00 PM 4:00 PM - 4:30 PM 4:30 PM - 6:30 PM *6:45 PM - 9:30 PM 7:00 PM - 8:30 PM ASHG High School Workshop for Local San Francisco Students and Teachers (Advance registration required.) HVP: Getting Ready for the Human Phenome Project (Separate registration required.) Philippine Genome Center Health Program Scientific Advisory Committee Meeting Scientific Registration Open ASHG Board of Directors Meeting #2 Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommend uploading at least 4 hours before your presentation time. ASHG Social Issues Committee Meeting ASHG Program Committee Meeting #1 Ataxia-Telangiectasia & Genome Instability Workshop For further information contact: meyn@sickkids.ca European Society of Human Genetics (ESHG) Executive Board Meeting Getting the Most from the Human Genome: Understanding Updates and Improvements in the Reference Assembly 1st Meeting of the International Consortium for Autosomal Recessive Intellectual Disability (CARID) Clinical Utility of Whole Exome Sequencing: Baylor s Initial Experience 1. ASHG Presidential Address: The Scientist as a Citizen of the World Moscone Center Room 303/305, Esplanade Level South Marriott Marquis Hotel Yerba Buena 7, Lower B2 Level Moscone Center Room 220, East Mezzanine Level South Moscone Center North Lobby Moscone Center Room 222, East Mezzanine Level South Moscone Center Room 110, Lower Level South Moscone Center Room 214, East Mezzanine Level South Moscone Center Room 224/226, East Mezzanine Level South Moscone Center Room 274/276, West Mezzanine Level South Moscone Center Room 270, West Mezzanine Level South Moscone Center Room 236/238, East Mezzanine Level South Moscone Center Room 272, West Mezzanine Level South Moscone Center Room 310, Esplanade Level South Moscone Center Hall D, Lower Level North 2. Plenary Abstract Presentations Moscone Center Hall D, Lower Level North Genetics of Type 2 Diabetes Meeting Marriott Marquis Hotel Pacific I, 4th Level ASHG Opening Mixer and Trainee Mixer-within-a-Mixer (Open to all scientific registrants.) Marriott Marquis Hotel Yerba Buena 7/8/9, Lower B2 Level

19 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 17 *7:00 PM - 8:00 PM *7:00 PM - 9:00 PM ACMG Development Committee Meeting American Journal of Medical Genetics Editorial Board Meeting WEDNESDAY, November 7 7:00 AM - 5:00 PM 7:00 AM - 5:00 PM 8:00 AM - 10:00 AM 8:00 AM - 4:30 PM 10:00 AM - 4:30 PM 10:00 AM - 4:30 PM Scientific Registration Open Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommend uploading at least 4 hours before your presentation time. Concurrent Invited Session I (3-10): 3. Implementing Next-Generation Sequencing as a Clinical Test 4. Assessing the Pathogenicity of Genetic Variants: Translating in Vitro and in Silico Advances to the Clinic 5. Gene Regulatory Change: The Engine of Human Evolution? 6. Insights into Human Demography and Selection from Full Genome Sequencing 7. Age-Related Macular Degeneration GWAS and Beyond: Guiding Light for the Complex Neurodegenerative Diseases 8. Yes Virginia, Family Studies Really Are Useful for Complex Traits in the Next- Generation Sequencing Era (session in honor of Dr. Robert Elston s contributions to human genetics in the year of his 80th birthday) 9. Surveying Customer Responses to Personal Genetic Services 10. Metabolism, Metals, and Neurodegeneration: Toward Enhanced Understanding of Disease Mechanisms and Rational Therapeutics Exhibitor Registration Open Career Resources Open Exhibits Open Marriott Marquis Hotel Sierra A, 5th Level Marriott Marquis Hotel Golden Gate C2, B2 Level Moscone Center North Lobby Moscone Center Room 110, Lower Level South Moscone Center Hall D, Lower Level North Gateway Ballroom 103, Lower Level South Room 135, Lower Level North Room 134, Lower Level North Gateway Ballroom 104, Lower Level South Room 124, Lower Level North Room 132, Lower Level North Room 130, Lower Level North Moscone Center South Lobby Moscone Center Exhibit Hall, Lower Level South Moscone Center Exhibit Hall, Lower Level South SCHEDULE

20 18 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 10:00 AM - 4:30 PM 10:30 AM - 12:45 PM 12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM 12:45 PM - 2:15 PM 12:45 PM - 1:45 PM 12:45 PM - 2:00 PM Posters Open Concurrent Platform (abstract-driven) Session A (11-19): 11. Genetics of Autism Spectrum Disorders Moscone Center Exhibit Hall, Lower Level South Moscone Center Hall D, Lower Level North 12. New Methods for Big Data Gateway Ballroom 103, Lower Level South 13. Cancer Genetics I: Rare Variants Room 135, Lower Level North 14. Quantitation and Measurement of Regulatory Oversight by the Cell 15. New Loci for Obesity, Diabetes, and Related Traits Room 134, Lower Level North Gateway Ballroom 104, Lower Level South 16. Neuromuscular Disease and Deafness Room 124, Lower Level North 17. Chromosomes and Disease Room 132, Lower Level North 18. Prenatal and Perinatal Genetics Room 130, Lower Level North 19. Vascular and Congenital Heart Disease Room 123, Lower Level North Lunch Break, Open Viewing for Posters and Exhibits ASHG Trainee-Mentor Luncheon (Advance ticket purchase required.) ASHG Workshop: SOLD OUT Clinical Interpretation of Cytogenomic Arrays: Tools & Resources (Advance ticket purchase required.) ASHG/NCBI Workshop: Discovering Biological Data at NCBI (Advance ticket purchase required.) Human Variome Project International Scientific Advisory Committee Meeting SOLD OUT SOLD OUT Complete Genomics Workshop: Whole Genome Sequencing as a Clinical Tool Roche Workshop: Genetic Diversity Analysis Using 454 and Nimblegen Sequencing Solutions Illumina Workshop: Integrated Tools for Next- Generation Sequencing & Genotyping Applications Moscone Center Exhibit Hall, Lower Level South Moscone Center Room 303/305, Esplanade Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 307, Esplanade Level South Moscone Center Room 270, West Mezzanine Level South Moscone Center Room 309, Esplanade Level South Moscone Center Room 236/238, East Mezzanine Level South Moscone Center Room 308, Esplanade Level South

21 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 19 12:45 PM - 2:15 PM 12:45 PM - 2:15 PM Affymetrix Workshop: Enabling the Genome Generation #1: Population-Optimized Strategies and Genotyping Solutions for Expanding Our Understanding of the Genetic Variations in Complex Diseases Agilent Technologies Lunch Workshop: Better Sequencing, Better World: The Latest in HaloPlex & SureSelect NGS Target Enrichment for Human Disease Research Moscone Center Room 302, Esplanade Level South Moscone Center Room 250, West Mezzanine Level South SCHEDULE *12:45 PM - 2:15 PM Human Molecular Genetics Editorial Board Meeting Moscone Center Room 274/276, West Mezzanine Level South 12:45 PM - 2:15 PM DNAnexus: Taking the Guesswork and Complexity Out of Genomic Data Analysis with a Novel Collaborative and Scalable Data Technology Platform Moscone Center Room 301, Esplanade Level South 12:45 PM - 2:15 PM QIAGEN, Inc. Workshop: New Sample Prep Solutions & Multiplex Gene Panel Target Enrichment for Next-Generation Sequencing Moscone Center Room 300, Esplanade Level South 12:45 PM - 2:15 PM Ion Torrent Luncheon Workshop: Semiconductor Sequencing For All: Ion Proton and Ion PGM Systems, Ion AmpliSeq Technology & More Moscone Center Room 310, Esplanade Level South 12:45 PM - 2:15 PM ACMG Genetics Review Course Faculty Meeting Moscone Center Room 222, East Mezzanine Level South 1:15 PM - 2:15 PM Knome Workshop: Interpreting Whole Genomes to Understand Disease and Drug Response: Methods, Tools, and Case Studies Moscone Center Room 232/234, East Mezzanine Level South 2:15 PM - 4:15 PM Poster Session I (Wednesday Poster Authors Present) Moscone Center Exhibit Hall, Lower Level South 4:30 PM - 6:30 PM 20. Invited Presidential Symposium: Gene Discovery and Patent Law: Present Experience in the U.S. and in Europe Moscone Center Hall D, Lower Level North 6:30 PM - 7:45 PM Ambry Genetics Workshop: The Power of the Diagnostic Exome Moscone Center Room 307, Esplanade Level South 6:30 PM - 8:00 PM Cleveland Clinic Genomic Medicine Institute Reception Marriott Marquis Hotel Yerba Buena 1/2, Lower B2 Level 6:30 PM - 8:00 PM Progeny Software Workshop: How to integrate Family History into your EMR Moscone Center Room 236/238, East Mezzanine Level South *6:30 PM - 9:30 PM ACMG MOC Meeting Marriott Marquis Hotel Sierra F, 5th Level *6:30 PM - 9:30 PM ACMG Professional Practice and Guidelines Committee Meeting Marriott Marquis Hotel Sierra E, 5th Level 6:45 PM - 8:45 PM Canadian College of Medical Geneticists: CIHR Institute of Genetics Mixer Marriott Marquis Hotel Yerba Buena 5/6, Lower B2 Level

22 20 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS *6:45 PM - 9:45 PM *6:45 PM - 10:30 PM 7:00 PM - 10:30 PM *7:00 PM - 8:30 PM *7:00 PM - 8:30 PM 7:00 PM - 8:30 PM *7:00 PM - 8:30 PM 7:00 PM - 9:00 PM 7:00 PM - 9:30 PM *7:00 PM - 10:00 PM *7:00 PM - 10:00 PM *7:00 PM - 10:00 PM *7:00 PM - 10:00 PM International Federation of Human Genetics Societies (IFHGS) Executive Board Meeting Explore Art & Science with Life Technologies (By invitation only.) Agilent Customer Appreciation Event ASHG Interactive Workshop on the UCSC Genome Browser for Intermediate/ Advanced Users (Advance ticket purchase required.) ASHG Workshop: Social Media + Scientists = Success: Strategies for Using Social Media to Benefit Your Research, Your Career and Your Connections (Advance ticket purchase required.) DNASTAR, Inc. Workshop: Cancer Genomics Data Analysis Using Next-Gen Sequencing: A Case Study and Workflow Human Mutation Editorial Board Meeting Baylor College of Medicine Genetics Reception University of Michigan, Department of Human Genetics Alumni Gathering 2012 Stanford University, Department of Genetics Reunion ACMG Biochemical Genetics Subcommittee Meeting ACMG Cytogenetics Subcommittee Meeting ACMG Molecular Genetics Subcommittee Meeting THURSDAY, November 8 7:00 AM - 4:30 PM 7:00 AM - 5:00 PM 7:00 AM - 8:00 AM 7:30 AM - 5:00 PM Posters Open Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommend uploading at least 4 hours before your presentation time. ACMG Education Committee Meeting Scientific Registration Open SOLD OUT SOLD OUT Moscone Center Room 224/226, East Mezzanine Level South San Francisco Museum of Modern Art B Restaurant & Bar 720 Howard Street Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 310, Esplanade Level South Moscone Center Room 301, Esplanade Level South Marriott Marquis Hotel Nob Hill C/D, Lower B2 Level Marriott Marquis Hotel Yerba Buena 10/11/12/13, Lower B2 Level Marriott Marquis Hotel Pacific C, 4th Level Roe-SF 651 Howard Street Marriott Marquis Hotel Sierra B, 5th Level Marriott Marquis Hotel Sierra C, 5th Level Marriott Marquis Hotel Sierra A, 5th Level Moscone Center Exhibit Hall, Lower Level South Moscone Center Room 110, Lower Level South Moscone Center Room 222, East Mezzanine Level South Moscone Center North Lobby

23 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 21 8:00 AM - 10:00 AM 8:00 AM - 4:30 PM 10:00 AM - 4:30 PM 10:00 AM - 4:30 PM 10:30 AM - 12:45 PM Concurrent Invited Session II (21-28): 21. Mendelian Randomization: Using Genetic Variants to Inform Causality in Observational Epidemiology 22. Common and Rare CNVs: Genesis, Patterns of Variations and Human Diseases 23. Advancing Gene Therapy to the Clinic: Molecular Medicines Come of Age 24. RNA Splicing in Human Development, Diseases and Natural Variation 25. Genomic Medicine: ELSI Goes Mainstream 26. Model Organism Genetics, Human Biology and Human Disease 27. Next-Generation Sequencing in Isolated Populations: Opportunities for Accelerated Gene Discovery in Complex Traits 28. Transforming Medical Student Education in Genetics and Genomics: How Do We Improve Health and Individualize Care through Medical School Genetic and Genomic Curricula? Exhibitor Registration Open Career Resources Open Exhibits Open Concurrent Platform (abstract-driven) Session B (29-37): 29. Next-Generation Sequencing: Methods and Applications Moscone Center Room 135, Lower Level North Hall D, Lower Level North Gateway Ballroom 104, Lower Level South Room 124, Lower Level North Room 132, Lower Level North Gateway Ballroom 103, Lower Level South Room 134, Lower Level North Room 130, Lower Level North Moscone Center South Lobby Moscone Center Exhibit Hall, Lower Level South Moscone Center Exhibit Hall, Lower Level South Moscone Center Hall D, Lower Level North 30. Genetics and Intellectual Disability Gateway Ballroom 103, Lower Level South 31. GWAS from Head to Toe Room 135, Lower Level North 32. Cardiovascular Genetics: GWAS and Beyond 33. Clinical Genetics: Mutations, Mutations and Syndromes Room 134, Lower Level North Gateway Ballroom 104, Lower Level South 34. Cancer Genetics II: Clinical Translation Room 124, Lower Level North SCHEDULE

24 22 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM 12:45 PM - 2:00 PM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM 12:45 PM - 2:15 PM 12:45 PM - 2:00 PM 12:45 PM - 2:15 PM 12:45 PM - 2:15 PM 12:45 PM - 2:15 PM 35. Ethical, Legal, Social and Policy Issues Room 132, Lower Level North 36. Chipping Away at Autoimmune Disease Room 130, Lower Level North 37. Metabolic Disease Discoveries Room 123, Lower Level North Lunch Break, Open Viewing for Posters and Exhibits AJHG Editorial Board Luncheon ASHG Information and Education Meeting ASHG Workshop: Diagnostic SOLD OUT Challenges: Review and Discussion of Unique Cases, Rare and Unknown Cases (Advance ticket purchase required.) Association of Professors of Human and Medical Genetics (APHMG) and SIGs Business Meeting and Lunch Clinical Genetics Editorial Board Meeting Genetic Epidemiology Editorial Board Meeting Human Variome Project Genetics Journal Editors Meeting Life Technologies Luncheon Workshop: Genetic Analysis at the Speed of Life Illumina Workshop: Next-Generation Sequencing - Implications for the Clinical Lab Affymetrix Workshop: Enabling the Genome Generation #2: Next Generation Cytogenetics Solution for Constitutional and Cancer Research Applications Agilent Technologies Lunch Workshop: Microarrays & Beyond: Advancements in Cytogenetic Research Technologies - Maximizing Flexibility and Customization for Multiple Applications with NGS, FISH, and Microarrays Asuragen, Inc. Workshop: Next Generation Fragile X Testing: New Capabilities in Genetic Counseling, Reproduction, and Fertility Planning for Female FMR1 Carriers Moscone Center Exhibit Hall, Lower Level South Moscone Center Room 224/226, East Mezzanine Level South Moscone Center Room 214, East Mezzanine Level South Moscone Center Room 303/305, Esplanade Level South Moscone Center Room 300, Esplanade Level South Moscone Center Room 274/276, West Mezzanine Level South Moscone Center Room 272, West Mezzanine Level South Moscone Center Room 270, West Mezzanine Level South Moscone Center Room 310, Esplanade Level South Moscone Center Room 308, Esplanade Level South Moscone Center Room 307, Esplanade Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 232/234, East Mezzanine Level South

25 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 23 12:45 PM - 2:15 PM 12:45 PM - 2:15 PM 12:45 PM - 2:15 PM 12:45 PM - 2:15 PM *1:00 PM - 2:00 PM *1:00 PM - 2:00 PM 1:00 PM - 2:15 PM 2:15 PM - 4:15 PM 4:30 PM - 6:45 PM *6:45 PM - 8:15 PM 6:45 PM - 8:15 PM BGI Luncheon Workshop: Human Disease Research and Drug Development in the Era of Next-Gen Sequencing BioNano Genomics Workshop: A Game- Changing Solution for Structural Variation Detection and Improving Assembly with Single-Molecule Visualization RainDance Technologies Workshop: Powering Recent Advances in Human Genetics BioDiscovery Nexus CNV Workshop: Recent CNV Discoveries and Integrated Genomics from NGS and Microarray Data ACMG Social, Ethical and Legal Issues Committee Meeting ACMG Therapeutics Committee Meeting Pacific Biosciences Workshop: Revealing the Genome through SMRT Biology: Discoveries and Applications Poster Session II (Thursday Poster Authors Present) Concurrent Platform (abstract-driven) Session C (38-46): 38. A Sequencing Jamboree: Exomes to Genomes Moscone Center Room 309, Esplanade Level South Moscone Center Room 301, Esplanade Level South Moscone Center Room 236/238, East Mezzanine Level South Moscone Center Room 302, Esplanade Level South Moscone Center Room 220, East Mezzanine Level South Moscone Center Room 222, East Mezzanine Level South Moscone Center Room 250, West Mezzanine Level South Moscone Center Exhibit Hall, Lower Level South Moscone Center Hall D, Lower Level North 39. Admixture and Demography Gateway Ballroom 103, Lower Level South 40. Analysis of Multilocus Systems Room 135, Lower Level North 41. Genes Underlying Neurological Disease Room 134, Lower Level North 42. Cancer Genetics III: Common Variants Gateway Ballroom 104, Lower Level South 43. Genetics of Craniofacial and Musculoskeletal Disorders Room 124, Lower Level North 44. Tools for Phenotype Analysis Room 132, Lower Level North 45. Therapy of Genetic Disorders Room 130, Lower Level North 46. Pharmacogenetics: From Discovery to Implementation UC Davis Integrative Genetics and Genomics Reception PALB2 Interest Group Meeting Room 123, Lower Level North Marriott Marquis Hotel Sierra H, 5th Level Moscone Center Room 270, West Mezzanine Level South SCHEDULE

26 24 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 6:45 PM - 9:00 PM *6:45 PM - 9:30 PM 6:45 PM - 9:45 PM 6:45 PM - 10:00 PM 6:45 PM - 9:45 PM *7:00 PM - 8:30 PM 7:00 PM - 8:30 PM 7:00 PM - 8:30 PM *7:00 PM - 9:00 PM 7:00 PM - 9:00 PM 7:00 PM - 9:00 PM *7:00 PM - 9:30 PM *7:00 PM - 10:00 PM 7:00 PM - 10:00 PM *7:00 PM - 8:00 PM 7:30 PM - 9:00 PM 7:30 PM - 9:30 PM 8:30 PM - 10:30 PM 9:00 PM - 11:00 PM Ion Torrent: Users Group Meeting Ingenuity Systems Reception (By invitation only.) Emory University Department of Human Genetics Reception Reception for Friends of RUCDR ENCODE-Epigenomics Common Fund Tutorial ASHG Interactive Workshop: Galaxy 101: Data Integration, Analysis and Sharing (Separate registration required.) Association of Chinese Geneticists in America (ACGA) Annual Meeting and Career Workshop UCLA Medical Genetics Training Program and Department of Human Genetics Reception Harvard Medical School Genetics Alumni Reception Johns Hopkins Institute of Genetic Medicine Alumni Reception Mount Sinai Department of Genetics and Genomic Sciences Alumni Reception ASHG Trainee Development Program and Networking: Science and Public Policy: Why Should Scientists Care About and Become Active in Public Policy Involving Science? (Separate registration required.) ACMG Lab QA Committee Meeting 23andMe Bar Night at the B GIANT Consortium Ohio State Scarlet & Gray Reception University of Maryland School of Medicine/ Program in Personalized and Genomic Medicine/Institute for Genome Sciences Reception University of Chicago Department of Human Genetics Dessert & Wine Reception CHOP/PENN Reunion SOLD OUT W Hotel Great Room I/II TBA Marriott Marquis Hotel Pacific J, 4th Level Marriott Marquis Hotel Nob Hill A/B, Lower B2 Level Moscone Center Room 303/305, Esplanade Level South Moscone Center Room 304/306, Esplanade Level South Marriott Marquis Hotel Golden Gate C1, B2 Level Marriott Marquis Hotel Yerba Buena 5/6, Lower B2 Level Marriott Marquis Hotel Pacific C, 4th Level Marriott Marquis Hotel Pacific H, 4th Level Marriott Marquis Hotel Sierra C, 5th Level Moscone Center Room 309, Esplanade Level South Marriott Marquis Hotel Sierra A, 5th Level B Restaurant & Bar 720 Howard Street Moscone Center Room 274/276, West Mezzanine Level South Marriott Marquis Hotel Nob Hill C/D, Lower B2 Level Marriott Marquis Hotel Pacific B, 4th Level Marriott Marquis Hotel Yerba Buena 10/11, Lower B2 Level Marriott Marquis Hotel Yerba Buena 4, Lower B2 Level

27 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 25 FRIDAY, November 9 7:00 AM - 4:30 PM 7:00 AM - 5:00 PM 7:30 AM - 5:00 PM 8:00 AM - 10:15 AM 8:00 AM - 4:30 PM 10:00 AM - 4:30 PM 10:00 AM - 4:30 PM 10:30 AM - 11:15 AM 11:15 AM - 11:45 AM 11:45 AM - 12:45 PM 12:45 PM - 2:15 PM Posters Open Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommend uploading at least 4 hours before your presentation time. Scientific Registration Open Concurrent Platform (abstract-driven) Session D (47-55): 47. Structural and Regulatory Genomic Variation Moscone Center Exhibit Hall, Lower Level South Moscone Center Room 110, Lower Level South Moscone Center North Lobby Moscone Center Hall D, Lower Level North 48. Neuropsychiatric Disorders Gateway Ballroom 103, Lower Level South 49. Common Variants, Rare Variants, and Everything in Between Room 135, Lower Level North 50. Population Genetics Genome-Wide Room 134, Lower Level North 51. Endless Forms Most Beautiful: Variant Discovery in Genomic Data 52. Clinical Genetics: Complex Mechanisms and Exome-Discovery 53. From SNP to Function in Complex Traits 54. Genetic Counseling and Clinical Testing 55. Mitochondrial Disorders and Ciliopathies Exhibitor Registration Open Career Resources Open Exhibits Open 56. Gruber Genetics Prize Award Presentation and Rosalind Franklin Young Investigator Award Announcement 57. ASHG William Allan Award Presentation 58. ASHG Membership amd Business Meeting Lunch Break, Open Viewing for Posters and Exhibits Gateway Ballroom 104, Lower Level South Room 124, Lower Level North Room 132, Lower Level North Room 130, Lower Level North Room 123, Lower Level North Moscone Center South Lobby Moscone Center Exhibit Hall, Lower Level South Moscone Center Exhibit Hall, Lower Level South Moscone Center Hall D, Lower Level North Moscone Center Hall D, Lower Level North Moscone Center Hall D, Lower Level North Moscone Center Exhibit Hall, Lower Level South SCHEDULE

28 26 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM 12:45 PM - 2:15 PM 12:45 PM - 2:15 PM *12:45 PM - 2:15 PM 12:45 PM - 2:15 PM 12:45 PM - 2:15 PM 12:45 PM - 2:15 PM *1:00 PM - 2:00 PM 2:15 PM - 4:15 PM 4:30 PM - 6:45 PM ASHG Program Committee Meeting #2 ASHG Mock Study Section Workshop (Advance ticket purchase required.) ASHG/Galaxy Interactive SOLD OUT Workshop: Working with High- Throughput Data and Data Visualization (Separate advance registration required.) NEBNext: Take the Next Step with Your NGS Library Prep Reagents QIAGEN, Inc. Workshop: Automated Solutions for Quality Control and Validation of Next-Gen Sequencing Recent Advances in NGS Technologies for Rapid Discovery and Direct Clinical Applications Fluidigm Workshop: From Sample to Sequence Ready: Building robust amplicon libraries for targeted analysis and validation using the Access Array System CLC bio Workshop: Medical Resequencing Pipelines, and Streamlined Amplicon Sequence from NGS Data ISCA Consortium Luncheon ACMG Economics Committee Meeting Poster Session III (Friday Poster Authors Present) Concurrent Platform (abstract-driven) Session E (59-67): Moscone Center Room 224/226, East Mezzanine Level South Moscone Center Room 303/305, Esplanade Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 302, Esplanade Level South Moscone Center Room 300, Esplanade Level South Moscone Center Room 232/234, East Mezzanine Level South Moscone Center Room 307, Esplanade Level South Moscone Center Room 236/238, East Mezzanine Level South Marriott Marquis Hotel Yerba Buena 1/2, Lower B2 Level Moscone Center Room 222, East Mezzanine Level South Moscone Center Exhibit Hall, Lower Level South Moscone Center 59. Genome Structure and Variation Hall D, Lower Level North 60. Advances in Neurodegenerative Disease 61. Missing Heritability, Interactions and Sequencing 62. Exome Sequencing Uncovers Etiology of Mendelian Disease 63. Transcriptional Regulation, Variation and Complexity Gateway Ballroom 103, Lower Level South Room 135, Lower Level North Room 134, Lower Level North Gateway Ballroom 104, Lower Level South 64. Epigenetics Room 124, Lower Level North SOLD OUT

29 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 27 *7:00 PM - 8:30 PM *7:00 PM - 8:30 PM *7:00 PM - 9:00 PM 8:00 PM - 12:00 midnight 65. Advances in Ocular Genetics Room 132, Lower Level North 66. Cancer Genetics: Somatic Variants Room 130, Lower Level North 67. Developmental Insights into Human Malformations ASHG Trainee Awards Committee Meeting ASHG/Ensembl Interactive SOLD OUT Worshop: Ensembl Web- Based Genomic Tools for Intermediate/Advance Users (Advance ticket purchase required.) Drama, Discourse and SOLD OUT Genomics: IRBs to IFs An Interactive Play (Advance ticket purchase required.) UCSF Institute for Human Genetics and Medical Genetics Reception SATURDAY, November 10 7:00 AM - 10:30 AM 7:30 AM - 12:00 PM 8:00 AM - 8:20 AM 8:20 AM - 8:40 AM 8:40 AM - 8:45 AM 8:45 AM - 8:55 AM 8:55 AM - 9:20 AM 9:40 AM - 11:40 AM Speaker Presentation/Upload Room Open Speakers are required to upload their presentations here. We recommend uploading at least 4 hours before your presentation time. Scientific Registration Open 68. ASHG Award for Excellence in Human Genetics Education 69. ASHG Victor A. McKusick Leadership Award Presentation 70. AJHG C.W. Cotterman Awards Announcement 71. ASHG Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research: Announcement of Winners Room 123, Lower Level North Moscone Center Room 224/226, East Mezzanine Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 300, Esplanade Level South Museum of the African Diaspora 685 Mission Street Moscone Center Room 110, Lower Level South Moscone Center North Lobby Moscone Center Hall D, Lower Level North Moscone Center Hall D, Lower Level North Moscone Center Hall D, Lower Level North Moscone Center Hall D, Lower Level North 72. ASHG Curt Stern Award Presentation Moscone Center Hall D, Lower Level North Concurrent Invited Session III (73-80): Moscone Center 73. Returning Results from Large- Scale Sequencing: Where the Rubber Meets the Road 74. Genomic Approaches to Mendelian Disorders 75. Emerging Applications of Identity by Descent Segment Detection Gateway Ballroom 103, Lower Level South Hall D, Lower Level North Gateway Ballroom 104, Lower Level South SCHEDULE

30 28 SCHEDULE OF SCIENTIFIC SESSIONS AND ANCILLARY EVENTS 12:00 PM - 1:00 PM 76. The Functional Consequences of microrna Dysregulation in Human Disease 77. Centralizing the Deposition and Curation of Human Mutations Room 134, Lower Level North Room 132, Lower Level North 78. Stem Cells and Personalized Medicine Room 135, Lower Level North 79. Should Noninvasive Prenatal Diagnosis Augment or Replace Current Prenatal Screening and Diagnosis? 80. Selection Signatures and the Genetics of Autoimmunity and Infectious Diseases 81. Closing Plenary: Human Genetics 2012 and Beyond: Present Progress and Future Frontiers Room 124, Lower Level North Room 130, Lower Level North Moscone Center Hall D, Lower Level North

31 TRAINEE MEETING WITHIN THE MEETING 29 TUESDAY, November 6 *8:00 AM - 3:00 PM 7:00 PM - 8:30 PM TRAINEE TRACK Trainee Meeting within the Meeting ASHG Undergraduate Faculty Genetics Education Workshop (Advance registration required.) ASHG Opening Mixer and Trainee Mixerwithin-a-Mixer (Open to all scientific registrants.) WEDNESDAY, November 7 10:00 AM - 4:30 PM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *7:00 PM - 8:30 PM *7:00 PM - 8:30 PM Career Resources Open ASHG Trainee-Mentor Luncheon (Advance ticket purchase required.) ASHG Workshop: Clinical Interpretation of Cytogenomic Arrays: Tools & Resources (Advance ticket purchase required.) ASHG/NCBI Workshop: Discovering Biological Data at NCBI (Advance ticket purchase required.) ASHG Interactive Workshop on the UCSC Genome Browser for Intermediate/Advanced Users (Advance ticket purchase required.) ASHG Workshop: Social Media + Scientists = Success: Strategies for Using Social Media to Benefit Your Research, Your Career and Your Connections (Advance ticket purchase required.) THURSDAY, November 8 10:00 AM - 4:30 PM *7:00 PM - 8:30 PM *7:00 PM - 9:30 PM Career Resources Open ASHG Interactive Workshop: Galaxy 101: Data Integration, Analysis and Sharing (Separate registration required.) SOLD OUT SOLD OUT SOLD OUT SOLD OUT SOLD OUT SOLD OUT ASHG Trainee Development Program and Networking: Science and Public Policy: Why Should Scientists Care About and Become Active in Public Policy Involving Science? (Separate registration required.) Moscone Center Room 300, Esplanade Level South Marriott Marquis Hotel Yerba Buena 7/8/9, Lower B2 Level Moscone Center Exhibit Hall, Lower Level South Moscone Center Room 303/305, Esplanade Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 307, Esplanade Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 310, Esplanade Level South Moscone Center Exhibit Hall, Lower Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 309, Esplanade Level South TRAINEE TRACK

32 30 TRAINEE MEETING WITHIN THE MEETING FRIDAY, November 9 10:00 AM - 4:30 PM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *7:00 PM - 8:30 PM *7:00 PM - 9:00 PM Career Resources Open ASHG Mock Study Section Workshop (Advance ticket purchase required.) ASHG/Galaxy Interactive Workshop: Working with High-Throughput Data and Data Visualization (Separate advance registration required.) ASHG/Ensembl Interactive Worshop: Ensembl Web-Based Genomic Tools for Intermediate/Advance Users (Advance ticket purchase required.) Drama, Discourse and Genomics: IRBs to IFs An Interactive Play (Advance ticket purchase required.) SATURDAY, November 10 8:40 AM - 8:45 AM 8:45 AM - 8:55 AM SOLD OUT SOLD OUT SOLD OUT SOLD OUT 70. AJHG C.W. Cotterman Awards Announcement 71. ASHG Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research: Announcement of Winners Moscone Center Exhibit Hall, Lower Level South Moscone Center Room 303/305, Esplanade Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 300, Esplanade Level South Moscone Center Hall D, Lower Level North Moscone Center Hall D, Lower Level North

33 EDUCATION TRACK 31 TUESDAY, November 6 *8:00 AM - 3:00 PM EDUCATION TRACK ASHG Undergraduate Faculty Genetics Education Workshop (Advance registration required.) WEDNESDAY, November 7 8:00 AM - 10:00 AM *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *7:00 PM - 8:30 PM *7:00 PM - 8:30 PM Concurrent Invited Sessions I (3-10): 3. Implementing of Next-Generation Sequencing as a Clinical Test 9. Surveying Customer Responses to Personal Genetic Services ASHG Workshop: Clinical Interpretation of Cytogenomic Arrays: Tools & Resources (Advance ticket purchase required.) ASHG/NCBI Workshop: Discovering Biological Data at NCBI (Advance ticket purchase required.) ASHG Interactive Workshop on the UCSC Genome Browser for Intermediate/Advanced Users (Advance ticket purchase required.) ASHG Workshop: Social Media + Scientists = Success: Strategies for Using Social Media to Benefit Your Research, Your Career and Your Connections (Advance ticket purchase required.) THURSDAY, November 8 8:00 AM - 10:00 AM *7:00 PM - 8:30 PM Concurrent Invited Session II (21-28): Moscone Center Room 300, Esplanade Level South Moscone Center Hall D, Lower Level North Room 132, Lower Level North Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 307, Esplanade Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 310, Esplanade Level South Moscone Center 25. Genomic Medicine: ELSI Goes Room 132, Lower Level Mainstream North 28. Transforming Medical Student Room 130, Lower Level Education in Genetics and Genomics: North How Do We Improve Health and Individualize Care through Medical School Genetic and Genomic Curricula? ASHG Interactive Workshop: Galaxy 101: Data Integration, Analysis and Sharing (Separate registration required.) SOLD OUT SOLD OUT SOLD OUT SOLD OUT SOLD OUT Moscone Center Room 304/306, Esplanade Level South EDUCATION TRACK

34 32 EDUCATION TRACK Friday, November 9 *12:45 PM - 2:15 PM *12:45 PM - 2:15 PM *7:00 PM - 8:30 PM *7:00 PM - 9:00 PM ASHG Mock Study Section Workshop (Advance ticket purchase required.) ASHG/Galaxy Interactive Workshop: Working with High-Throughput Data and Data Visualization (Separate advance registration required.) ASHG/Ensembl Interactive Worshop: Ensembl Web-Based Genomic Tools for Intermediate/Advance Users (Advance ticket purchase required.) Drama, Discourse and Genomics: IRBs to IFs An Interactive Play (Advance ticket purchase required.) Saturday, November 10 9:40 AM - 11:40 AM Concurrent Invited Session III (73-80): 77. Centralizing the Deposition and Curation of Human Mutations SOLD OUT SOLD OUT SOLD OUT SOLD OUT Moscone Center Room 303/305, Esplanade Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 304/306, Esplanade Level South Moscone Center Room 300, Esplanade Level South Moscone Center Room 132, Lower Level North

35 CLINICAL TRACK 33 WEDNESDAY, November 7 8:00 AM - 10:00 AM 10:30 AM - 12:45 PM *12:45 PM - 2:15 PM CLINICAL TRACK Concurrent Invited Session I (3-10): 3. Implementing Next-Generation Sequencing as a Clinical Test 4. Assessing the Pathogenicity of Genetic Variants: Translating in Vitro and in Silico Advances to the Clinic 10. Metabolism, Metals, and Neurodegeneration: Toward Enhanced Understanding of Disease Mechanisms and Rational Therapeutics Moscone Center Hall D, Lower Level North Gateway Ballroom 103, Lower Level South Room 130, Lower Level North Concurrent Platform (abstract-driven) Moscone Center Session A (11-19): 18. Prenatal and Perinatal Genetics Room 130, Lower Level North ASHG Workshop: Clinical Interpretation of Cytogenomic Arrays: Tools & Resources (Advance ticket purchase required.) THURSDAY, November 8 8:00 AM - 10:00 AM 10:30 AM - 12:45 PM *12:45 PM - 2:15 PM Concurrent Invited Session II (21-28): 22. Common and Rare CNVs: Genesis, Patterns of Variations and Human Diseases 23. Advancing Gene Therapy to the Clinic: Molecular Medicines Come of Age 25. Genomic Medicine: ELSI Goes Mainstream Concurrent Platform (abstract-driven) Session B (29-37): 33. Clinical Genetics: Mutations, Mutations and Syndromes Moscone Center Room 304/306, Esplanade Level South Moscone Center Hall D, Lower Level North Gateway Ballroom 104, Lower Level South Room 132, Lower Level North Moscone Center Gateway Ballroom 104, Lower Level South 35. Ethical, Legal, Social and Policy Issues Room 132, Lower Level North SOLD OUT ASHG Workshop: Diagnostic SOLD OUT Challenges: Review and Discussion of Unique Cases, Rare and Unknown Cases (Advance ticket purchase required.) Moscone Center Room 303/305, Esplanade Level South CLINICAL TRACK

36 34 CLINICAL TRACK 4:30 PM - 6:45 PM Concurrent Platform (abstract-driven) Moscone Center Session C (38-46): 45. Therapy of Genetic Disorders Room 130, Lower Level North FRIDAY, November 9 8:00 AM - 10:15 AM 4:30 PM - 6:45 PM *7:00 PM - 9:00 PM Concurrent Platform (abstract-driven) Session D (47-55): 52. Clinical Genetics: Complex Mechanisms and Exome-Discovery 54. Genetic Counseling and Clinical Testing Concurrent Platform (abstract-driven) Session E (59-67): 67. Developmental Insights into Human Malformations Drama, Discourse and Genomics: IRBs to IFs An Interactive Play (Advance ticket purchase required.) SATURDAY, November 10 9:40 AM - 11:40 AM Concurrent Invited Session III (73-80): SOLD OUT 73. Returning Results from Large-Scale Sequencing: Where the Rubber Meets the Road 77. Centralizing the Deposition and Curation of Human Mutations 79. Should Noninvasive Prenatal Diagnosis Augment or Replace Current Prenatal Screening and Diagnosis? Moscone Center Room 124, Lower Level North Room 130, Lower Level North Moscone Center Room 123, Lower Level North Moscone Center Room 300, Esplanade Level South Moscone Center Gateway Ballroom 103, Lower Level South Room 132, Lower Level North Room 124, Lower Level North

37

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39 floor plans Moscone Center, 747 Howard Street Tel:

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41 Fourth Street C3 A B C2 Mission Street C1 Willow Golden Gate Prefunction Area Elevators Mission Tunnel Corridor to Yerba Buena Ballroom Walnut To Lobby Golden Gate Registration A Business Center Golden Gate Registration B Juniper Laurel Elevators Shipping Receiving Freight Elevator Service Elevator floor plans Marriott Marquis Hotel, 55 Fourth Street Tel: Yerba Buena Lane Marriott Marquis Hotel, B2 Level Fourth Street Loading Dock Howard Street Loading Dock Kitchen Assembly Freight Door 10' x 10.6' Service Corridor Salon 15 Salon 1 Salon 14 Salon 2 Salon 13 Salon 3 Assembly Howard Street Bake Shop Salon 12 Salon 11 Salon 4 Salon 5 Salon 10 Salon 9 Salon 8 Salon 7 Salon 6 Banquet Office Nob Hill D Yerba Buena Grand Assembly Nob Hill C Nob Hill B Nob Hill A To Golden Gate Hall North Registration B South A B A Registration Elevator Yerba Buena Gardens Marriott Marquis Hotel, Lower B2 Level

42 39 Marriott Marquis Hotel, Level 3 Pacific J H G K J H G Elevator Elevator Garden Deck Pacific (Fourth Floor) Full Service Health Club Pool Whirlpool Sierra (Fifth Floor) F Atrium E Atrium F E D D A B C A B C F Marriott Marquis Hotel

43 Map/HoTEls In ashg official BloCK Hotel Questions: ASHG s Official Housing Bureau: Convention Management Resources: Tel: or For onsite questions, visit the Housing Counter located in the Registration Area, Upper North Lobby. Marriott Marquis Hotel: Courtyard by Marriott: Grand Hyatt: Hotel nikko: Hotel palomar: Intercontinental Hotel: sir francis Drake Hotel: W Hotel: Westin Market street Hotel:

44 The American Society of Human Genetics Hotel Map and Key 41 Embarcadero BART/Muni 8 3 Montgomery BART/Muni Powell BART/Muni Civic Center BART/Muni 1 San Francisco Marriott Marquis 2 Courtyard by Marriott San Francisco Downtown 3 Grand Hyatt San Francisco 4 Hotel Nikko San Francisco 5 Hotel Palomar 6 InterContinental San Francisco 7 Parc 55 Wyndham San Francisco-Union Square 8 Sir Francis Drake Hotel 9 W San Francisco 10 The Westin San Francisco Market Street BART/Muni Stations Hotel Locator Map

45 Map/san francisco Bay area rapid TransIT (BarT)

46 San Francisco Bay Area Rapid Transit/BART 43

47 GENERAL INFORMATION 45 ABOUT THE MEETING All events for the 62 nd Annual Meeting of The American Society of Human Genetics will be held at the Moscone Center (Convention Center), unless otherwise indicated. The Convention Center is located at 747 Howard Street, San Francisco, CA 94103; Tel: Please see page 49 for telephone numbers and hotels in the ASHG official housing block. All Annual Meeting details are available on the ASHG 2012 Annual Meeting Web site at The Web site will serve as the official e-publication of the 2012 Annual Meeting. Abstracts Abstracts of the plenary, platform and poster presentations may be viewed online only at the ASHG meeting Website ( Abstracts will not be available in print. NOTE: Speakers in the invited sessions are not required to provide abstracts. Abstract Search/Itinerary Planner For your convenience, abstract search/printing stations will be located in the Registration Area, North Lobby of the Convention Center. Invited Sessions The 2012 program is highlighted by 24 invited scientific sessions that have been scheduled over three concurrent time periods: (1) Wednesday, November 7 from 8:00 am until 10:00 am (see page 69); (2) Thursday, November 8, from 8:00 am until 10:00 am (see page 82); and (3) Saturday, November 10, from 9:40 am until 11:40 am (see page 119). Plenary Session Presentations (abstract-driven) The plenary session includes a diverse set of six presentations, selected from the toprated abstracts submitted for this year s annual meeting as determined by the 2012 Program Committee. These six abstracts have been programmed from 4:30 pm until 6:30 pm on Tuesday. Each author will give a 15-minute presentation, with an additional five minutes for discussion. The first author listed is the presenting author. See page 68 for a complete description of this session. Platform Sessions (abstract-driven) The Program Committee has assembled 45 abstract-driven platform sessions totaling 405 oral presentations. Each presenting author will give a 10-minute talk followed by five minutes of discussion. There are five sets of nine concurrent platform sessions as follows: (1) Wednesday, November 7 from 10:30 am until 12:45 pm (see page 73); (2) Thursday, November 8 from 10:30 am until 12:45 pm (see page 86); (3) Thursday, November 8 from 4:30 pm until 6:45 pm (see page 94); (4) Friday, November 9 from 8:00 am until 10:15 am (see page 101); and (5) Friday, November 9 from 4:30 pm until 6:45 pm (see page 110). GENERAL INFORMATION

48 46 GENERAL INFORMATION Poster Sessions (abstract-driven) To encourage scientific discussions and to facilitate the exchange of information, posters are grouped by related topics, keyword (selected by the first author at the time of abstract submission), and alphabetical order by the last name of the first author. The first author listed is the presenting author. The program number and the abstract/poster board number are one and the same. It appears in bold print followed by the abstract title and author names. Each number is followed by a W (Wednesday), or T (Thursday), or F (Friday)to indicate the day on which authors must be present at their poster board. Each author is expected to be present for one of the two hours during that day. The posters are expected to remain on the boards for all three poster sessions. See page 125 for poster mounting/removal schedule and presentation times. Poster listings begin on page 127. Mobile App NEW Download the ASHG 2012 Mobile App to your smartphone (ios, Android, and Blackberry platforms). The Mobile App gives you the meeting at your fingertips wherever you go. Once the App has been downloaded, you do not need an Internet connection to view information. Please refer to the ad on page 422. Mobile Web Site Access the ASHG 2012 mobile Web site at and bookmark it on your Web-enabled mobile device so that you have important meeting information at your fingertips. The mobile Web site is an alternative option for those attendees that do not have a smartphone. An Internet connection is required when viewing the mobile Web site. Social Media This year, views of the meeting attendees will be followed through ASHG s social media outlets and will be summarized at the closing session. Attendees are encouraged to post their thoughts on exciting scientific or clinical advances they have heard about during the meeting, and on challenges that the field will face, by using hashtag #ASHG2012. Questions for the closing panelists can also be sent to Chris Gunler via or our Facebook page, com/geneticssociety. Follow ASHG on Please refer to the ASHG 2012 Annual Meeting Web site under general information for the do s and don ts of Social Media. Remember, everything is tweetable unless a speaker requests otherwise. Session Tracks The schedule once again features separate schedules that list sessions of relevance to Trainees, as well as Education and Clinical tracks. Please look for the following symbols and refer to page 29, 31 and 33 for the schedules. Indicates Clinical-focused events Indicates Education-focused events Indicates Trainee-focused events

49 REGISTRATION, BADGE AND PROGRAM PICK UP GENERAL INFORMATION 47 Scientific meeting registration, badge, program, and bag pickup is located in the North Upper Lobby of the Convention Center and is open during the following hours: Tuesday, November 6 Wednesday, November 7 Thursday, November 8 Friday, November 9 Saturday, November 10 10:00 am 7:00 pm 7:00 am 5:00 pm 7:00 am 5:00 pm 7:30 am 5:00 pm 7:30 am 10:30 am Exhibitor registration is located in the South Lobby. See page 48 for exhibitor registration hours. Registration Fees The registration fee includes entry to all invited scientific sessions, platform sessions, award presentations, poster sessions, exhibits, and to the opening mixer. The fee does not include admission to separate ticketed events and does not include meals or hotel costs. Registration may be paid by cash, check, money order or credit card (American Express, MasterCard or VISA). Registration fees are shown in U.S. dollars After September 4 Starting November 6 ASHG Member $500 $600 Nonmember $750 $850 Trainee ASHG Member 1 $275 $300 Trainee Non-member 1 $475 $525 Developing Country 2 $350 $400 Guest Registration 3 N/A $125 One-day registration is not available. GENERAL INFORMATION 1 Trainees may register at the trainee rates for the meeting. Postdoctoral fellows and students working toward a degree in human genetics or an allied field qualify. Trainees will be asked to provide certain information to determine eligibility. Trainees who register at the meeting should bring a student ID card or a letter signed by their department or laboratory head to certify trainee/student/fellow status. 2 Developing Country Delegates may register at this rate if they are from a country that is classified by the World Bank as lower income or lower-middle income. Identification such as a passport is required. 3 Guest registration will be available on-site only for family members or special guests of registered delegates. Guest registration fee is $125 per guest and includes admission to the Opening Mixer and the Exhibit Hall. The guest registration does not include access to scientific sessions. In order to register as a guest, you must be accompanied by a paying scientific registrant. Please go to the Registration Help Counter located in the Registration Area. Guests will be issued different colored badges from scientific registrants.

50 48 GENERAL INFORMATION Registration Receipt The back of your badge is your registration receipt. Please retain this for your records. Replacement, Lost or Forgotten Badges A $5 fee will be charged to registrants for each replacement badge requested i.e., to replace badges that are left at home or in hotel rooms, lost or forgotten. Questions should be directed to the Registration Help Counter. Telephone: MEETING INFORMATION, SERVICES AND OFFICES ASHG Office and Meeting Logistics Room 111, Lower Level North Questions about housing, ancillary meetings, audio-visual, on-site logistics, and lost and found should be directed to this office. CME and CEU tracking forms are also available. Telephone: The office hours are as follows: Tuesday, November 6 Wednesday, November 7 Thursday, November 8 Friday, November 9 Saturday, November 10 10:00 am 6:00 pm 7:00 am 5:00 pm 7:00 am 5:00 pm 7:00 am 5:00 pm 7:00 am 12:30 pm Membership questions should be directed to the ASHG Booth at ASHG Central inside the Exhibit Hall. ASHG Central Exhibit Hall, Lower Level South Visit ASHG Central to address membership questions, view sample publications, apply for membership, and to find out more about ASHG. Also available in ASHG Central will be editors of the American Journal of Human Genetics ( AJHG). The AJHG provides a record of research and review relating to heredity in humans, the application of genetic principles in medicine and public policy, and related areas of molecular and cell biology, behavioral, molecular, biochemical, population and clinical genetics. Also available is additional information on the city of Boston, Massachusetts, the site of ASHG s 2013 Annual Meeting and register to win a gift from the Boston Convention and Visitor s Bureau! ASHG Central is located in booth #913, in the very center of the Exhibit Hall! It is open during exhibit hours and will have comfortable seating, charging stations, Wi-Fi access, and much more! We hope you stop by to see us while visiting the exhibits and posters. You can also meet ASHG 2012 Board and Program Committee members during poster session hours. Make ASHG Central your destination for networking, plugging in, and for all the ASHG information you need!

51 GENERAL INFORMATION 49 Assistance for Attendees Registrants with questions regarding special needs for auxiliary requirements (such as hearing assistance/sign language interpretation), housing, and transportation should contact the ASHG office in advance by ing with your specific request. NOTE: It may not be possible to accommodate last-minute and on-site requests. For information on accessibility within San Francisco, visit com. If you have difficulty in walking long distances, you may want to consider renting a mobile scooter from Scoot Around. For details or reservations, call or visit For a list of taxi companies that offer ramp access, see page 54. Attire/Dress Code Attire for the meeting is business casual. Remember to dress in layers and wear comfortable walking shoes. You may want to carry a small umbrella as San Francisco can often have rain showers in November. Business Center Lower Level South The Convention Center has a full-service business center for your convenience. It will be open from Tuesday through Friday. Hours will be posted outside the entrance. The business center will provide an array of services including copying, printing, faxing, Internet access, shipping, and office supplies. Please refer to page 51 for information on Internet and Wi-Fi access. Career/Employment Opportunities Exhibit Hall, Lower Level South The ASHG/FASEB Career Center will operate Wednesday through Friday inside the Exhibit Hall during exhibit hours. Job seekers and employers should submit their résumés/job descriptions on 8½ x 11 paper to the ASHG/FASEB Career Center staff for posting on the employment poster boards inside the Exhibit Hall. Employers may also job descriptions to careers@faseb.org. Visit the FASEB/Career Resources Web site at for details. Cell Phone/Camera/Recording Policy Attendees are strictly prohibited from using cameras and all other recording devices in all meeting session rooms, on the Exhibit Hall floor, and in all poster/ oral presentations. This means that attendees are not permitted to take pictures or videos of speaker slides, posters or exhibit booths. Attendees not adhering to this policy may be asked to leave the room and will be asked to delete all pictures or videos already taken, and further action may be taken with repeated or egregious offenders. When registering, you agreed to adhere to this policy. Please remember to turn off or place on silent cell phones or other devices before entering meeting rooms. CMEs and CEUs Please refer to page 325 for information. Tracking forms are located at the ASHG Information Counter in the North Lobby, at ASHG Central inside the Exhibit Hall and at the Society Office, Room 111. GENERAL INFORMATION

52 50 GENERAL INFORMATION Exhibits Exhibit Hall, Lower Level South Exhibits will be open daily on Wednesday, Thursday and Friday from 10:00 am until 4:30 pm. The Exhibit Hall features hundreds of companies from around the world showing their latest products and services. More information on who is exhibiting can be found either through an alphabetical listing of companies with descriptions starting on page 269 or a listing by products and services where companies may be located by keyword beginning on page 299. Your barcoded badge will allow you to enter contests and request additional information from companies in the Exhibit Hall. For additional information on other features in the Exhibit Hall, please see page 267. NOTE: Children under the age of 18 may be admitted into the Exhibit Hall only if they are accompanied by a paid scientific registrant. Exhibit Registration and Exhibit Management South Upper Lobby The Exhibit Management Office and Exhibit Registration are located in the South Lobby. Exhibitor Registration hours are as follows: Tuesday, November 6 Wednesday, November 7 Thursday, November 8 Friday, November 9 8:00 am 5:00 pm 8:00 am 4:30 pm 8:00 am 4:30 pm 8:00 am 4:30 pm Family/Nursing Mothers Room Room 203, East Mezzanine Level South The family room is open during registration hours. The purpose of the room is to give parents and children a place to relax during the convention. Attendees are not permitted to use this room for babysitting services. Room 218 has also been set aside for nursing mothers to have privacy. First Aid Lower Level (North and South) There are two locations for first aid rooms. The first is located outside Hall D in the North building, telephone and the second is located outside Hall C in the South building, telephone The First Aid Room is staffed Monday through Saturday by trained personnel able to handle various medical problems and emergencies that might arise. If you are witness to a medical emergency inside the Convention Center, please dial 511 from any house phone, or from your mobile device. The number to call for emergencies outside of the Convention Center is 911. Food Service Exhibit Hall, Lower Level Food concessions will be open in the Exhibit Hall (Wednesday through Friday) during exhibit and poster hours. Portable food stands will also be available in various areas throughout the Convention Center, Wednesday through Saturday. The concession stands will offer a variety of grab and go foods. Hours will be posted on-site. ASHG will provide coffee service each morning outside session rooms and will provide light lunch refreshments inside the Exhibit Hall during the lunch period on Wednesday, Thursday and Friday.

53 GENERAL INFORMATION 51 Housing/Hotels North Upper Lobby See page 41 for the hotel locator map. For housing inquiries, visit the housing counter located in the registration area (Tuesday through Friday). Hours will be posted at the counter. The on-site telephone number is You may also contact the official ASHG 2012 Housing Bureau: Telephone: or ; Below is a list of official ASHG hotels. Marriott Marquis Hotel (Headquarter): Courtyard by Marriott: Grand Hyatt: Hotel Nikko: Hotel Palomar: Intercontinental Hotel: Sir Francis Drake Hotel: W Hotel: Westin Market Street Hotel: We suggest you put the number of the hotel you are staying at into your mobile device/cell phone. Information North Upper Lobby The information counter will be open during registration hours (see page 47). Telephone: Please stop by the information counter to pick up CME and CEU tracking forms. GENERAL INFORMATION Internet (Wi-Fi) Access and Cyber Café Complimentary Wi-Fi (supported by Genzyme) is available in all public lobbies and meeting space of the Moscone Center. The service is not available inside the Exhibit Hall and Posters. Attendees who wish to use the Wi-Fi service should bring their own laptop or PDA with a wireless /g network card installed. To access this service, open your browser and set the SSID (wireless network identified) to ASHG2012. You will need to set your network card to use DHCP. Open a web browser and click the login button to continue. Technical support will not be provided at the meeting. Remember to consider the security implications of using the wireless network and protect your laptop accordingly. The Cyber Café is located in the North Building, Lower Concourse Level and is open during registration hours. Attendees are asked to limit their time to 15 minutes per visit. Luggage Storage and Coat Check South Upper Lobby Facilities for luggage storage and coat check are available Wednesday through Saturday. This service is complimentary. Please do not take luggage into the session rooms. All items must be checked in and checked out on the same day. Items should not be left overnight. Message Center/Literature Area South Building, Lower Level Leaving messages at the message center is the best way to contact another attendee for whom you do not have more direct contact information. Please note that it is not possible to page an attendee. Attendees can post fliers advertising social events or upcoming meetings. Exhibitors are not permitted to display materials in the literature area.

54 52 GENERAL INFORMATION Parking The Convention Center does not have on-site parking. However, there are many parking garages nearby. View the Convention Center s parking map at to find a nearby parking garage. You can also visit the SFMTA Web site at for information on parking around the city. Prayer Room Room 266, West Mezzanine Level South This room has been set aside for prayer and meditation and will be open during registration hours. Press Office Room 113, Lower Level North Journalists should go directly to Room 113 to receive a press badge, program schedule, news releases and other media materials. The Press Office is open T uesday through Saturday only for registered journalists. For more information about press registration procedures, policies/guidelines and on-site media events at the 2012 meeting, please contact Cathy Yarbrough at press@ashg.org. Registration Management/Registration Help Desk North Upper Lobby Questions regarding registration should be directed to the Registration Help Desk. See registration hours listed on page 47. Telephone: Restaurant/City Information/Tours and Activities San Francisco Travel will provide city information at the permanent counter located in the South Upper Lobby. City maps and brochures on local attractions are available in this area. Not sure where to dine in San Francisco? Contact RESERVATIONS TONIGHT! at or call them toll free in the U.S. at DINE (3463). Outside the U.S. call Assistance will be available at the Restaurant Reservations counter located in the Registration Area of the North Upper Lobby as follows: Wednesday 10:00 am 5:00 pm Thursday 10:00 am 5:00 pm Friday 10:00 am 5:00 pm Speaker-Ready/Presentation Upload Room Room 110, Lower Level North The Speaker-Ready/Presentation Upload Room will be open daily as follows: Tuesday 11:00 am 4:30 pm Wednesday 7:00 am 5:00 pm Thursday 7:00 am 5:00 pm Friday 7:00 am 5:00 pm Saturday 7:00 am 11:00 am All speakers are required to upload their presentation in advance of the session. We encourage you to do this at least 4 hours before the start of your presentation time. Speakers are not permitted to take their laptop to the lectern for use during their presentation. On the day of presentation, speakers should arrive at the session room and check in with the audio-visual technicians and moderator about one-half hour before the scheduled start of the session. For speaker questions, please the ASHG Meeting Management Office at ashgmeetings@ashg.org.

55 GENERAL INFORMATION 53 A speaker/author index begins on page 333. Names of all speakers, presenting authors and co-authors are listed followed by their session or abstract number(s). Speaker Conflict of Interest: Beginning on page 329 is an alphabetical list of invited session speakers and authors of abstracts who have disclosed the existence of significant financial interest or other relationships the presenter has with companies or organizations that may be perceived to bias the presentation. This information allows the listener/attendee to be fully knowledgeable in evaluating the presentation, and is required to meet CME and CEU requirements. All speakers will have a conflict of interest slide automatically inserted into their presentation. For speakers that indicated a conflict, the disclosure information you completed during your abstract submission or completion of the online conflict of interest form will automatically be used. Telephone Numbers for ASHG On-Site Offices All offices are located at the Convention Center ASHG Office and Meeting Management, Room 111: Exhibitor Registration and Management, South Upper Lobby: Convention Center, Moscone Center Main Number: First Aid, Moscone North, Lower Level: First Aid, Moscone South, Lower Level: Housing Counter, North Upper Lobby: Information Counter, North Upper Lobby: Message Counter, North Upper Lobby: Press Office, Room 113: Registration Help Counter, North Upper Lobby: Restaurant Reservations Counter, North Upper Lobby: Security (ASHG Show Management): Security (Convention Center): dial 511 from any house phone Emergency/Police/Fire: dial 511 from any house phone Non-emergency: dial 4021 from any house phone Travel and Visitor Information San Francisco is famous for its scenic beauty, cultural attractions, diverse communities, and world-class cuisine. San Francisco s landmarks include the Golden Gate Bridge, cable cars, Fisherman s Wharf, Alcatraz, Chinatown, Union Square, and North Beach. The San Francisco Travel Visitors Center is located at 900 Market Street (on the lower level of Hallidie Plaza, next to the cable car turn table at Powell and Market Streets) and is open Monday through Friday from 9:00 am to 5:00 pm. Tax: Sales tax: 9.5%; Hotel tax: 15% occupancy tax, 1.5% tourism fee and $0.25 commerce fee Temperature: Average high in November is 64 F or 18 C and average low is 51 F or 10 C; average rain fall is 3 inches (80mm). The golden rule when packing for a trip to San Francisco is to wear layers! Fog can roll in at any time, and areas near the water can feel cool. GENERAL INFORMATION

56 54 GENERAL INFORMATION Tipping Guidelines: Tipping is expected in the U.S. Below are some guidelines to follow: Waiters usually receive 15 20% of the bill. In some cases, the tip is automatically added to your bill. You should always check before adding a gratuity. Maids usually receive $1-$2 per room per day. You should leave the tip daily and not at the end of your stay. Taxi drivers usually receive 15% of the fare. Doormen, Skycaps, and porters usually receive $1/bag Transportation/Getting Around Bay Area Rapid Transit (BART): BART is the fast, easy, inexpensive way to get to downtown San Francisco and around the Bay Area. BART operates five routes with service to 43 stations, including stops at SFO and OAK airports. The closest stations to ASHG official hotels are the Powell Street station and the Montgomery Street station. Visit for further information and station listings. See Map on page 43. Cable Cars and Historic Street Cars (operated by MUNI): San Francisco s vintage electric streetcars run along the F-line. Stops can be found every few blocks on Market Street and The Embarcadero between the Castro District and Fisheman s Wharf (often near glass bus stop shelters). The cable streetcars run along Powell Street to Hyde or Mason. The California street line goes from California and Market to California and Van Ness (a less crowded option)! If you are unsure what the difference is between cable cars and streetcars, remember: a street car has a trolley pole connected to an overhead wire, while a cable car runs on street rails and has no overhead wires. Parking: View the Convention Center s parking map at to find a nearby parking garage. You can also visit the SFMTA Web site at for information on parking around the city. San Francisco Municipal Railway (MUNI): MUNI provides transit within the city and county of San Francisco 24 hours a day, seven days a week. You can buy a Visitor Pass for unlimited rides on MUNI, including cable cars (good for three or seven consecutive days). Taxis: Using taxis is a great way to get around quickly. San Francisco can be challenging with its steep hills and attractions scattered around the city. The average price for a taxi from the airport is between $40 and $45, plus 15% tip. Regardless of what taxi company you select, rates are set for all companies by the San Francisco Municipal Transportation Agency (SFMTA). Below are some taxi companies that operate in downtown San Francisco. These companies offer ramped mini vans for those in wheelchairs or with scooters, advance reservations required: Checker DeSoto Luxor Regents Town Taxi Yellow Walking: San Francisco is a great city to walk and explore the unique neighborhoods. All hotels in the ASHG hotel block are within a short walk of the Convention Center.

57 DAILY MEETING HIGHLIGHTS 55 DAILY MEETING HIGHLIGHTS AND WORKSHOPS Tuesday, November 6 Undergraduate Faculty Genetics Education Workshop 8:00 am 3:00 pm, Room 300, Esplanade Level South This session for undergraduate faculty, organized by the ASHG Undergraduate Subcommittee, covers human genetics content and pedagogies. The goal is to encourage effective teaching of human genetics so that it contributes to improving the genetic literacy of students. Breakfast and lunch will be served. For further information, contact Katherine Lontok at klontok@ashg.org. The registration fee is not refundable. Separate advance registration required. High School Workshop for San Francisco Students and Teachers 8:30 am 2:30 pm, Room 303/305, Esplanade Level South The High School Workshop is organized by the ASHG Information and Education Committee. Students and teachers will interact with genetics researchers and learn about the field of human genetics. The workshop will include several inquiry-oriented genetics lessons on newborn screening, DNA forensics, epigenetics, complex traits, family history, and malaria/population genetics. Presidential Address 4:00 pm 4:30 pm, Hall D, Lower Level North The Presidential Address, entitled The Scientist as a Citizen of the World will be presented by Mary-Claire King. See page 68 for a description of this session. This session will be available for viewing live on the ASHG 2012 Meeting Web site at Plenary Abstract Presentations 4:30 pm 6:30 pm, Hall D, Lower Level North Six authors will present in this session. Each author will give a 15-minute presentation, with an additional five minutes for discussion. See page 68 for a description of this session. Opening Mixer and Trainee Mixer-within-a-Mixer 7:00 pm 8:30 pm, San Francisco Marriott Marquis Hotel, Yerba Buena 7, Lower B2 Level The opening mixer is open to all scientific registrants and registered guests. The mixer offers a relaxed atmosphere in which attendees can become acquainted and reacquainted with colleagues. Light snacks, refreshments and a cash bar will be offered. Trainees should look for the designated area. Trainees will receive one complimentary beverage ticket, which will be printed on trainee badges. Please remember to bring this ticket with you. For those interested in knowing the results of the U.S. general election, large screens airing the results will be located inside the Opening Mixer Ballroom after the conclusion of the plenary session. DAILY MEETING HIGHLIGHTS

58 56 DAILY MEETING HIGHLIGHTS Wednesday, November 7 Trainee-Mentor Luncheon 12:45 pm 2:15 pm, Room 303/305, Esplanade Level South SOLD OUT The Trainee-Mentor Luncheon is a wonderful opportunity for trainees (graduate students, postdoctoral fellows and clinical fellows) in the field of human genetics to meet and talk informally with senior members of the Society about career options, goals, and professional opportunities. The luncheon is held on the first day of the meeting so that students can continue their discussions with these mentors at other times during the course of the meeting. Lunch will be served. Please see the ASHG Meeting Web site (under workshops) for a list of mentors. Tickets are non-refundable. Separate advance registration required and admission is by advance ticket purchase only. Discovering Biological Data at NCBI 12:45 pm 2:15 pm, Room 307, Esplanade Level South SOLD OUT Peter Cooper from the National Center for Biotechnology Information (NCBI) will present this workshop, which will provide both general strategies for finding data at the NCBI and an introduction to various tools for visualizing and analyzing sequence data. This workshop will give a basic introduction to using the Entrez system performing searches, and finding data on human genes. Specific tasks covered include finding reference sequences, mapping variations, identifying homologous genes, exploring expression studies, and using My NCBI to save searches and manage data. Tickets are non-refundable. Separate advance registration required and admission is by advance ticket purchase only. Workshop requirements: Registrants must bring a laptop to this session in order to participate. Laptops should have full battery power and must have a wireless card. Clinical Interpretation of Cytogenomic Arrays: Tools and Resources 12:45 pm 2:15 pm, Room 304/306, Esplanade Level South Darrel Waggoner, University of Chicago, and Christa Lese Martin, Emory University, will present this workshop, which is geared for clinical geneticists and residents, genetic counselors and genetic counseling students, laboratory directors, laboratory training fellows, and other laboratory personnel. This interactive session will cover basic information about the differences between the various array platforms and will discuss strategies for choosing the appropriate platform for your patients, including issues related to repeating arrays utilizing different platforms. Tickets are nonrefundable. Separate advance registration required and admission is by advance ticket purchase only. Workshop requirements: Registrants must bring a laptop to this session in order to participate. Laptops should have full battery power and must have a wireless card. SOLD OUT

59 DAILY MEETING HIGHLIGHTS 57 Presidential Symposium 4:30 pm 6:30 pm, Hall D, Lower Level North This symposium, organized by Mary-Claire King and entitled Gene Discovery and Patent Law: Present Experience in the U.S. and in Europe, will explore the present extraordinary pace of gene discovery, the question of who, if anyone, owns newly discovered genes will be critical to research and practice in human genetics. This issue has been before the U.S. Supreme Court and remanded to the Federal District Court of Appeals as Association for Molecular Pathology et al. v. Myriad Genetics. In order to understand the legal issues represented by this case, the role of this case in the larger context of legal issues in genetics, and the consequences of the decision on this case for research and services in human genetics, a panel of experts will discuss and educate us on this issue. See page 81 for a list of panelists and for a detailed description of this session. UCSC Genome Browser Interactive Workshop for Intermediate/ Advanced Users 7:00 pm 8:30 pm, Room 304/306, Esplanade Level South Robert Kuhn and Pauline Fujita, University of California, Santa Cruz, will present this interactive workshop on Web-based genomic tools. The workshop will demonstrate the use of Table Browser to access more than five terabytes of genomic data in the UCSC database. Methods for intersecting data between linked tables and filtering data to access specific subsets of large datasets will be covered. Automated program driven querying of data in the public MySQL database will also be demonstrated. Tickets are non-refundable. Separate advance registration required and admission is by advance ticket purchase only. Workshop requirements: Registrants must bring a laptop to this session in order to participate. Laptops should have full battery power and must have a wireless card. Social Media + Scientists = Success: Strategies for Using Social Media to Benefit Your Research, Your Career, and Your Connections 7:00 pm 8:30 pm, Room 310, Esplanade Level South This workshop, which is moderated by Jonathan Gitlin, NHGRI, will involve short presentations from panelists who have extensive experience using social media, followed by a highly interactive discussion with the audience. The panelists are drawn from a cross-section of the genomics community and include an early-stage researcher (Daniel MacArthur, Harvard University), a senior faculty investigator and 2012 Program Committee Member/former editor for Nature (Chris Gunter, Hudson Alpha), and an industry representative in the commercial sector (Shirley Wu, 23andMe). The session will feature a brief Social Media 101 tutorial and attendees will leave the workshop armed with knowledge about effective ways to use social media in the context of their genetics/genomics work. Tickets are non-refundable. Separate advance registration required and admission is by advance ticket purchase only. SOLD OUT SOLD OUT DAILY MEETING HIGHLIGHTS

60 58 DAILY MEETING HIGHLIGHTS Thursday, November 8 Diagnostic Challenges: Review and Discussion of Unique Cases (Rare and Unknown) 12:45 pm 2:15 pm, Room 303/305, Esplanade Level South This event is organized and moderated by Karen W. Gripp, A. I. dupont Hospital for Children, and Pedro Sanchez, Children s Hospital Los Angeles/University of Southern California. The session provides an opportunity for registrants to present cases (rare and unknown) to a panel of expert clinical geneticists (see below) for discussion of differential diagnosis, treatment and counseling options. The session provides a lively give-and-take discussion in an informal environment between the audience and the panel as each case is presented. Audience participation in suggesting diagnosis or testing is encouraged. Panelist Margaret Adam Cynthia Curry Bill Dobyns Dian Donnai Karen Gripp Julie Hoover-Fong Micheil Innes Marilyn Jones Stephen Kahler Pedro Sanchez Anne Slavotinek Andrea Superti-Furga Alain Verloes Area of special interest Dysmorphology/Teratology Dysmorphology Brain Malformation Dysmorphology Rasopathies/Dysmorphology Skeletal Dysplasia Dysmorphology Craniofacial Anomalies Metabolic Disorders LDDB, Possum Database Eye Malformation/Diaphragmatic Hernia Skeletal Dysplasia Dysmorphology Each case will be presented using PowerPoint, with a limit of six slides and three minutes per presentation. Best suited are visuals with plenty of images. Any slides depicting patient information or images must have the consent of the patient. It is each presenter s responsibility to obtain consent prior to sharing identifiable information. The discussion by the expert panel will follow the presentation. Discussion will be limited to five minutes. Tickets are non-refundable. Separate advance registration required and admission is by advance ticket purchase only. SOLD Galaxy 101: Data Integration, Analysis and Sharing OUT 7:00 pm 8:30 pm, Room 304/306, Esplanade Level South Jennifer Hillman-Jackson, Penn State, and Jeremy Goecks, Emory University, will present this workshop which is an introduction to Galaxy s basic functionality as an analysis and data integration framework for accessible, reproducible, and transparent biomedical research. In this workshop, participants will learn how to use the Galaxy Web server ( to integrate and analyze biomedical data, including how to (1) load and integrate your own data with data from popular online resources; (2) perform common analysis/operations on genomic data; and (3) save, share, describe and publish your analysis and generated datasets. Tickets are non-refundable. Separate advance registration required and admission is by advance ticket purchase only. SOLD OUT

61 DAILY MEETING HIGHLIGHTS 59 Workshop requirements: Registrants must bring a laptop to this session in order to participate. Laptops should have full battery power and must have a wireless card. Trainee Development Program and Networking Session 7:00 pm 9:30 pm, Room 309, Esplanade Level South This event is organized by the ASHG Professional Development Committee, and will be led by Derek Scholes, NHGRI, and Tyrone Spady, FASEB. This year s program will focus on science and public policy: Why should scientists care about and become active in public policy involving science? Consider the effect of policy on research and funding, education/training, and career development. Come take part in a discussion and see how you might engage with policy in ways that advance research, medicine, education, etc. A networking session follows the formal program. Tickets are non-refundable. Separate advance registration required and admission is by advance ticket purchase only. Friday, November 9 Gruber Genetics Prize Presentation and Lecture/Rosalind Franklin Award Announcement 10:30 am 11:15 am, Hall D, Lower Level North The Gruber Genetics Prize honors scientists for distinguished contributions in any realm of genetic research. Dr. Douglas Wallace, Children s Hospital of Philadelphia, will be presented with the 2012 Gruber Genetics Prize. An acceptance lecture is scheduled. The Rosalind Franklin Award winners will also be announced. See page 107 for a description of this session and a list of past winners. William Allan Award: Presentation and Lecture 11:15 am 11:45 am, Hall D, Lower Level North The William Allan Award is presented annually to recognize substantial and far-reaching scientific contributions to human genetics, carried out over a sustained period of scientific inquiry and productivity. Dr. Uta Francke, Stanford University, will be presented with the 2012 William Allan Award. An acceptance lecture is scheduled. See page 108 for a description of this session and a list of past winners. ASHG Membership/Business Meeting 11:45 am 12:45 pm, Hall D, Lower Level North Reports highlighting current Society business will be presented. This is an opportunity for members to learn about recent ASHG activities and to provide suggestions to leaders. There will be a moment of silence for those members and colleagues we have lost in Discussion from the floor is encouraged. Mock Study Section Workshop 12:45 pm 2:15 pm, Room 303/305, Esplanade Level South Ron Adkins and Barbara Thomas, from NIH s Center for Scientific Review, will lead the session. Did you ever wonder what really happens in study section meetings and how proposals get discussed? In this workshop, attendees will have the opportunity to work with NIH staff to learn about the proposal review process, including the typical dynamics of study section deliberations. The NIH streamlining process will be demonstrated, and the workshop will present examples of mistakes applicants commonly make. Tickets are non-refundable. Separate advance registration required and admission by advance ticket purchase only. SOLD OUT DAILY MEETING HIGHLIGHTS

62 60 DAILY MEETING HIGHLIGHTS Galaxy Advanced Users Workshop: Working with High-Throughput Data & Data Visualization 12:45 pm 2:15 pm, Room 304/306, Esplanade Level South Jennifer Hillman-Jackson, Penn State, and Jeremy Goecks, Emory University, will present this advanced level interactive workshop on the Galaxy tools. This workshop builds on the Galaxy 101 workshop, and basic knowledge of Galaxy will be helpful. Galaxy supports integration of data from multiple sources, including user-uploaded data and popular online resources, such as UCSC, BioMart and InterMine as well as complex bioinformatics analysis. You will learn to use the free public Galaxy Web server ( to analyze NGS data, Galaxy s visual analytics to iteratively guide analysis, etc. Tickets are non-refundable. Separate advance registration required and admission by advance ticket purchase only. Workshop requirements: Registrants must bring a laptop to this session in order to participate. Laptops should have full battery power and must have a wireless card. Ensembl Browser Interactive Workshop for Intermediate/Advanced Users 7:00 pm 8:30 pm, Room 304/306, Esplanade Level South Paul Flicek, Giulietta M. Spudich, and Bert Overduin from the European Bioinformatics Institute, will lead an interactive workshop on the Ensembl genomic tools ( introducing highlights and new ways of integrating information in the genome browser and analysis of variation data. Gene regulation tracks based on integrated analysis of ENCODE and human epigenome data will be explored and the presenters will also provide some pointers on accessing Ensembl through the MySQL and Perl APIs. Ensembl provides an infrastructure for genomic information for over 60 species, from storage to analysis and visualization. The workshop is tailored to intermediate/advanced users. Tickets are non-refundable. Separate advance registration required and admission is by advance ticket purchase only. Workshop requirements: Registrants must bring a laptop to this session in order to participate. Laptops should have full battery power and must have a wireless card. SOLD An Interactive Play: Drama, Discourse and Genomics: OUT From IRBs to IFs 7:00 pm 9:00 pm, Room 300, Esplanade Level South This interactive session weaves audience participation with the premiere of an original new vignette-play that illuminates ethical, psychological, social, legal, and policy concerns surrounding the sharing of information generated by next-generation sequencing. Between each act of the fictionalized play, audience and actors are engaged in discussion, as the vignettes evolve from an Institutional Review Board (IRB) meeting through the informed consent process to the disclosure of incidental findings (IFs). The presenters, Lynn Bush and Karen Rothenberg, delve into controversial ethical issues and the dramatization is intended to foster a deeper appreciation for potential conflicts when disclosing genomic information. Tickets are non-refundable. Separate advance registration required and admission by advance ticket purchase only. SOLD OUT SOLD OUT

63 DAILY MEETING HIGHLIGHTS 61 Saturday, November 10 Award for Excellence in Human Genetics Education: Presentation and Lecture 8:00 am 8:20 am, Hall D, Lower Level North This award recognizes outstanding contributions to human genetics education. Nominees for this award must have made a contribution that is recognized nationally or internationally as being of exceptional quality and great importance to human genetics education. Dr. Alan Emery, Green Templeton College, University of Oxford, will be presented the 2012 Award for Excellence in Human Genetics Education. An acceptance lecture is scheduled. See page 116 for a description of this session and a list of past winners. Victor A. McKusick Leadership Award: Presentation and Lecture 8:20 am 8:40 am, Hall D, Lower Level North This award is presented to an individual whose professional achievements have fostered and enriched the development of various human genetics disciplines. In 2008 the Leadership Award was renamed to honor the memory of Victor A. McKusick ( ). Dr. Francis Collins, National Institutes of Health, will be presented with the 2012 Victor A. McKusick Leadership Award. An acceptance speech is scheduled. See page 117 for a description of this session and a list of past winners. C. W. Cotterman Awards Announced 8:40 am 8:45 am, Hall D, Lower Level North The C. W. Cotterman Award winners will be announced and presented with certificates. Each September, the editorial board of the American Journal of Human Genetics selects two articles representing the best papers published in the Journal during the previous year by pre- or postdoctoral ASHG trainees. Trainee Research Award Winners Announced 8:45 am 8:55 am, Hall D, Lower Level North ASHG honors excellence in research conducted by predoctoral and postdoctoral trainees, including genetic counseling trainees, through merit-based awards that recognize highly competitive abstracts submitted for the Annual Meeting. These awards were renamed in 2012 to honor the late Charles Epstein. The six winners of the Charles J. Epstein Trainee Awards for Excellence in Genetics Research will be announced. See page 63 for a list of the 18 finalists and page 65 for a list of the 60 semifinalists. Curt Stern Award: Presentation and Lecture 8:55 am 9:20 am, Hall D, Lower Level North This award is presented yearly for outstanding scientific achievements in human genetics occurring in the last 10 years. The work may be a single major discovery or a series of contributions on a similar or related topic. This award honors the memory of Curt Stern ( ) as an outstanding and pioneering human geneticist. Dr. Jay Shendure, University of Washington, will be presented the 2012 Curt Stern Award. An acceptance lecture is scheduled. See page 119 for a description of this session and a list of past winners. DAILY MEETING HIGHLIGHTS

64 62 DAILY MEETING HIGHLIGHTS Closing Symposium - Human Genetics 2012 and Beyond: Present Progress and Future Frontiers 12:00 pm 1:00 pm, Hall D, Lower Level North This year s annual meeting will conclude with a special symposium that will include a panel of five outstanding geneticists, Han Brunner, Hal Dietz, Dian Donnai, Lynn Jorde, and Jay Shendure. This session will discuss the most exciting advances and upcoming challenges in several areas of human genetics. Panelists will answer questions from each other and from the audience. Views of the meeting attendees will be followed through ASHG s social media outlets and will be summarized at the opening of the session. Attendees are encouraged to post their thoughts on exciting scientific or clinical advances they have heard about during the meeting, and on challenges that the field will face, by using hashtag #ASHG2012 on Twitter or Facebook page ( ASHG 2012 MOBILE APP Download the ASHG 2012 Mobile App to your smartphone (ios, Android, and Blackberry platforms). Refer to the ad on page 422. The mobile App brings the meeting to your fingertips wherever you go. Once the App has been downloaded, you do not need an Internet connection to view information.

65 DAILY MEETING HIGHLIGHTS 63 ASHG/CHARLES J. EPSTEIN TRAINEE AWARDS FOR EXCELLENCE IN HUMAN GENETICS RESEARCH ASHG honors excellence in research conducted by predoctoral and postdoctoral trainees, including genetic counseling trainees, through merit-based awards that recognize highly competitive abstracts submitted for the Annual Meeting. These awards were renamed in 2012 to honor the late Dr. Charles Epstein. Congratulations to the 60 semifinalists. Semifinalists were selected based on abstract score and awarded complimentary registration plus $750 each. Of those semifinalists, 18 finalists (selected by the Awards Committee) received an additional $250. The finalists presentations were reviewed by the ASHG Awards Committee and volunteer judges during the Annual Meeting. Six winners are chosen to receive an additional $1000 each. See below for the list of finalists and semi-finalists. The winners will be announced on Saturday, November 10 at the Awards session starting at 8:45 am. Members of the Awards Committee are Christopher Pearson, Chair; Goncalo Abecasis, Georgia Dunston, Maximilian Muenke, Pragna Patel, Sharon Plon; Mary-Claire King, ex officio. Name/Presentation Date & Time Li, Q. Tuesday, 5:50 pm (Plenary) Translational cis-regulation of gene... Xifara, D. Wednesday, 10:30 am (Platform) The detection, structure and uses of... Ordulu, Z. Wednesday, 10:30 am (Platform) Lessons learned from next-gen... Doyle, A. J. Wednesday, 10:30 am (Platform) Heterozygous germline mutations in a... O Roak, B. J. Wednesday, 11:15 am (Platform) The discovery and validation of genes... Powell, W. T. Wednesday, 11:15 am (Platform) A long, non-coding RNA from the... Kitzman, J. O. Wednesday, 11:30 am (Platform) Noninvasive whole-genome sequencing of a... Session Number Program Number Award Category Room 02 5 Postdoctoral Hall D Lower Level North Predoctoral Gateway Ballroom 103 Lower Level South Postdoctoral Room 130 Lower Level North Postdoctoral Room 123 Lower Level North Postdoctoral Hall D Lower Level North Predoctoral Room 132 Lower Level North Predoctoral Room 130 Lower Level North TRAINEE AWARDS

66 64 DAILY MEETING HIGHLIGHTS Lee, Y. Wednesday, 12:00 noon (Platform) Association of genetic variation affecting... Delaneau, O. Thursday, 11:00 am (Platform) Accurate haplotype estimation using phase... Menelaou, A. Thursday, 11:15 am (Platform) An LD-based method for genotype calling... Ruark, E. Thursday, 11:45 am (Platform) BRCA1 and BRCA2 mutational spectrum in a... Snyder, M. W. Thursday, 12:00 noon (Platform) Methods for noninvasive prenatal... Nguyen, K.-D. H. Thursday, 12:00 noon (Platform) High exome mutational burden in 58 African... Teslovich, T. M. Thursday, 4:30 pm (Platform) Whole-exome sequencing of 10,000 type 2... Tsetskhladze, Z. Friday, 9:15 am (Platform) Functional assessment of human coding... Segurel, L. Friday, 10:00 am (Platform) When ancestry runs deep: Trans-species... Arboleda, V. Friday, 5:15 pm (Platform) Domain-specific mutations in CDKN1C cause... Wert, K. J. Friday, 6:30 pm (Platform) Gene therapy provides long-term visual Postdoctoral Room 134 Lower Level North Postdoctoral Hall D Lower Level North Predoctoral Hall D Lower Level North Predoctoral Room 124 Lower Level North Predoctoral Hall D Lower Level North Predoctoral Room 134 Lower Level North Postdoctoral Hall D Lower Level North Postdoctoral Room 132 Lower Level North Postdoctoral Room 134 Lower Level North Predoctoral Room 134 Lower Level North Predoctoral Room 132 Lower Level North

67 GENERAL INFORMATION TRAINEE AWARD SEMIFINALISTS Arboleda, Valerie, 361 Buchan, Jillian, 220 Carter, Calvin, 404 de Ligt, Joep, 97 Goldlust, Ian, 66 Gorkin, David, 258 Gymrek, Melissa, 333 He, Zongxiao, 93 Kitzman, Jacob, 74 Kuchenbaecker, Karoline, 208 Kulzer, Jennifer, 304 Laurino, Mercy, 144 Lim, Elaine, 11 Maranville, Joseph, 248 Menelaou, Androniki, 91 Bryc, Katarzyna, 178 Campbell, Catarina, 278 Chaki, Moumita, 406 Chu, Audrey, 51 Chutake, Yogesh, 381 Delaneau, Olivier, 90 Doyle, Alexander, 79 Fairfax, Benjamin, 373 Girirajan, Santhosh, 14 Gulsuner, Suleyman, 287 Hibaoui, Youssef, 67 Hung, Christina, 297 Lee, Phil, 352 Lee, Younghee, 40 Li, Quan, 5 Predoctoral Michailidou, Kyriaki, 206 Mullegama, Sureni, 103 Nguyen, Khanh-Dung, 121 Oz-Levi, Danit, 53 Powell, Weston, 64 Rowsey, Ross, 250 Ruark, Elise, 138 Semaka, Alicia, 265 Sidore, Carlo, 177 Snyder, Matthew, 94 Soblet, Julie, 83 Stimpson, Kaitlin, 69 Wert, Katherine, 393 Xifara, Dionysia Kiara, 16 Yang, Wen-Yun, 180 Postdoctoral Liu, Pengfei, 61 Lloyd, Deborah, 219 Meltz Steinberg, Karyn, 375 Nord, Alex, 407 O Roak, Brian, 10 Ordulu, Zehra, 70 Pasaniuc, Bogdan, 89 Sebro, Ronnie, 279 Seeley, Andrea, 313 Segurel, Laure, 285 Smith, Robin, 246 Teslovich, Tanya, 169 Tsetskhladze, Zurab, 309 Tuschl, Karin, 167 Wilson Sayres, Melissa, 281 TRAINEE AWARDS The number next to each name indicates the authors abstract number.

68 66 GENERAL INFORMATION 2012 FASEB MARC TRAVEL AWARDEES Each year, the ASHG/FASEB-MARC Program sponsors the Minority Travel Awards to help support the participation of faculty/mentors, postdoctoral fellows, and students from minority institutions and historically black colleges and universities in the United States. Underrepresented minority faculty, students, and postdoctoral fellows from majority institutions are also eligible to apply for these travel awards. The MARC travel awards provide up to $1,650 in funding for travel-related expenses. Elinette Albino-Rodriguez Sandra Brown-Ford Beatrice Monica Bowen Kristine Lacuesta Bucasas Calvin Carter Monique Courtenay Nadeem Fazal Michael Gonzalez Belen Hernandez James Hicks Crystal Humphries Janina Jeff Zura Liaqat Nataly Manjarrez-Orduno Candace Middlebrooks Maria Nieves-Colon Alba Pacheco-Torres Carmen Ramirez Aisha Rauf Nicole Restrepo Marquitta White

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70 68 INVITED AND PLATFORM SESSIONS Tuesday, November 6 4:00 PM 4:30 PM SESSION 1 ASHG Presidential Address: The Scientist as a Citizen of the World Hall D, Lower Level North, Moscone Center Presenter: Mary-Claire King ASHG 2012 President, Univ. of Washington One of the most fulfilling features of our lives as scientists is to act as citizens of the world. We both take this citizenship for granted and take its responsibilities seriously. In one generation, this role has evolved dramatically, as scientists travel far more widely and as modern communication tools enable us to remain in contact with our colleagues worldwide. In my presidential address, I will specify some elements of the scientific life that lead naturally to world citizenship. Then I will focus in particular on how the intellectual structure of human genetics enables us to be particularly effective world citizens. I will also discuss migration as a force in our lives, as well as in human evolution, and will try to define the concept of home for a scientist. Finally, I will suggest that scientific goals are both practical and idealistic, and that we should celebrate both. Tuesday, November 6 4:30 PM 6:30 PM SESSION 2 Plenary Abstract Presentations Hall D, Lower Level North, Moscone Center Moderator: Joel N. Hirschhorn, 2012 Program Committee Chair Boston Children s Hosp., Harvard Med. Sch. and Broad Inst. 1/4:30 A novel molecular and functional mechanism predisposing to ototoxicity. B. Wollnik, E. Pohl, N. Offenhäuser, A. Uzumcu, F. J. Kersten, A. K. Rzadzinska, O. Uyguner, B. Lorente, G. Nürnberg, M. Emiroglu, H. Kayserili, I. del Castillo, P. Nürnberg, T. Moser, C. Kubisch, K. P. Steel, P. P. Di Fiore, H. Kremer, Y. Li. 2/4:50 Genome-wide comparison of genetic and epigenetic regulatory mechanisms in primates. Y. Gilad, A. Pai, R. Pique-Regi, C. Cain, J. Degner, N. Lewellen, K. Michelini, J. Pritchard. 3/5:10 Multidisciplinary and translational task force for neonatal genomics. E. E. Davis, A. Sabo, N. C. Oien, S. H. Katsanis, H. Cope, K. Sheets, A. Sadeghpour, K. McDonald, M. Kousi, J. R. Willer, J. Kim, S. Dugan-Rocha, D. M. Muzny, A. Ashley-Koch, E. Hauser, M. Hauser, J. Sun, J. Kurtzberg, A. Murtha, B. Boyd, W. B. Gallentine, R. Goldberg, M. T. McDonald, R. A. Gibbs, M. Angrist, C. M. Cotten, N. Katsanis. 4/5:30 Genome-wide identification and functional analysis of distant-acting craniofacial enhancers. C. Attanasio, Y. Zhu, M. J. Blow, A. S. Nord, V. Afzal, B. Hallgrimsson, D. FitzPatrick, H. Morrison, E. M. Rubin, L. A. Pennacchio, A. Visel. 5/5:50 Translational cis-regulation of gene expression in human genome: The effect of human single nucleotide polymorphisms.q. Li, A. Makri, Y. Lu, L. Marchand, R. Grabs, M. Rousseau, H. Ounissi- Benkalha1, H. Qu, C. Polychronakos. 6/6:10 Lessons learned from the NHLBI-Exome Sequencing Project. S. M. Leal on behalf of NHLBI Exome Sequencing Project. The Opening Mixer and Trainee-Mixer-within-a-Mixer will follow the plenary session at the Marriott Marquis Hotel, Yerba Buena Ballroom. For those interested, large screens will display the U.S. election updates after the Plenary session has concluded. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

71 INVITED AND PLATFORM SESSIONS 69 Wednesday, November 7 8:00 AM 10:00 AM Concurrent Invited Session I (3-10) Wednesday, November 7 8:00 AM 10:00 AM Concurrent Invited Session I (3-10) SESSION 3 Implementing Next-Generation Sequencing as a Clinical Test Hall D, Lower Level North, Moscone Center Moderators: Nazneen Aziz, Col. of American Pathologists, Lexington, MA; Ira Lubin, Ctr. for Dis. Control and Prevent. Next-generation sequencing (NGS) is used widely in clinical research for the discovery of diseaseassociated genes and the clinical community is beginning to embrace this technology for diagnostic testing. The rapid evolution of NGS technologies presents significant opportunities and challenges for researchers and clinicians for improving health outcomes; particularly with respect to an increased emphasis on personalized and preventive medicine. Adoption of NGS in the clinical laboratory setting requires the adoption of many processes and procedures, such as, the analytic and clinical validation of the test, CLIA/CAP certification, standards for reference materials for proficiency testing, and questions regarding reimbursement and informed consent. This session will initially review the state of NGS in the clinical setting today and what is anticipated in the near future. This will be followed by consideration for what is practically needed for clinical adoption of NGS such as regulatory and professional standards, development, availability, and access to reference materials, and the laboratory professional s role for ensuring high quality test results that are useful for informing clinical decision making. This session will be informative and practical for the researcher and laboratorians who are considering launching NGS as a clinical test. 8:00 AM Challenges of introducing NGS in the clinical laboratory. S. Richards. Oregon Hlth. & Sci. Univ. 8:15 AM Addressing the fundamentals: NGS validation and implementation in a clinical setting. M. Hegde. Emory Univ. 8:45 AM Proficiency testing, quality control and development of reference material for NGS clinical testing. E. Lyon. Univ. of Utah Sch. of Med. 9:00 AM Development of accreditation standards for laboratories offering NGS as a clinical test. N. Aziz. Col. of American Pathologists, Lexington, MA. 9:30 AM Lessons from the clinic What s next? H. Jacob. Med. Col. of Wisconsin. SESSION 4 Assessing the Pathogenicity of Genetic Variants: Translating in Vitro and in Silico Advances to the Clinic Gateway Ballroom 103, Lower Level South, Moscone Center Moderators: Marc S. Greenblatt, Univ. of Vermont; Sean V. Tavtigian, Univ. of Utah Interpreting which genetic variants are pathogenic and which are not remains a critical challenge in the genetics of hereditary cancer syndromes and other inherited disorders. Genetic testing for disorders such as Lynch syndrome (caused by mutations in DNA mismatch repair genes) and hereditary breast-ovarian cancer (BRCA1, BRCA2 genes) often identifies a `Variant of Uncertain Significance (VUS). As DNA sequencing capacity increases at a furious pace, there is an ever greater need to have effective methods to analyze these data. There is a consensus in the field of genetic testing that proper classification of variants requires the integration of multiple types of data. Some lines of evidence are familiar to clinicians (e.g., segregation of an allele with disease, detailed phenotype), and others are less familiar (e.g., in vitro protein functional assays, in silico algorithms based on gene sequence or protein structure). Ideally, integration can be done in a quantitative way, such as Bayesian probabilistic analysis, but qualitative data may be used if quantitative measurements are not possible. This session will 1) explore recent advances in applying and integrating statistical, laboratory, and computational methods in the classification of missense, splice site, and other genetic variants, and 2) report on international collaborations that are using these methods to classify variants in mismatch repair, BRCA, and other genes and disseminating validated conclusions to the cancer genetics community. 8:00 AM Innovative in vitro and in vivo assays to investigate the function of mismatch repair gene variants in Lynch syndrome. N. de Wind. Leiden Univ. Med. Ctr., Netherlands. 8:30 AM Analysis of splicing abnormalities to define pathogenic variants in cancer susceptibility genes. A. B. Spurdle. Queensland Inst. of Med. Res., Australia. 9:00 AM Integrating in silico with in vitro, statistical, and phenotype data to classify missense variants: A paradigm that is ready for translation to the clinic. S.V. Tavtigian. Univ. of Utah. 9:20 AM CAGI: The Critical Assessment of Genome Interpretation, a community experiment to evaluate phenotype prediction. S. E. Brenner. Univ. of California, Berkeley. 9:40 AM International collaborations to establish standards for classifying genetic variants and to disseminate results. M. S. Greenblatt. Univ. of Vermont. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

72 70 INVITED AND PLATFORM SESSIONS Wednesday, November 7 8:00 AM 10:00 AM Concurrent Invited Session I (3-10) SESSION 5 Gene Regulatory Change: The Engine of Human Evolution? Room 135, Lower Level North, Moscone Center Moderators: James P. Noonan, Yale Univ. Sch. of Med.; Nadav Ahituv, UCSF What makes us human? Classic human traits, such as language and sophisticated tool use, are the result of physical changes during human evolution, including increased brain complexity and altered limb morphology. This session will focus on efforts to identify evolutionary changes in gene regulation that produced uniquely human phenotypes. Speakers will describe novel approaches that are empowering research in this emerging field, and the insights that are being gained. Topics to be discussed include: 1) Computational identification of putative gene regulatory elements that changed extensively during human evolution; 2) The role of repetitive elements in generating novel regulatory functions; 3) Humanspecific loss of developmental regulatory elements; 4) New methods to link phenotypic and genotypic variation across closely related species, and the implications for understanding human-specific biology and disease; and 5) Identifying humanspecific developmental regulatory changes by direct comparisons of enhancer function and gene expression in embryonic human and nonhuman primate tissues using functional genomics. The session will illustrate how the synthesis of diverse computational and experimental approaches is beginning to reveal the genetic basis of unique human biology. 8:00 AM Chromatin profiling of human embryonic tissues identifies regulatory elements with humanspecific developmental functions. J. P. Noonan. Yale Univ. Sch. of Med. 8:25 AM Many human accelerated regions are developmental enhancers. K. S. Pollard. UCSF. 8:50 AM Linking human and mammalian genotypes to phenotype. G. Bejerano. Stanford Univ. 9:15 AM The role of repetitive elements in driving human and mammalian genome regulation. D. Odom. Cancer Research UK, Cambridge, U.K. 9:40 AM Evidence of regulatory turnover in the human lineage revealed by comparing mammalian constraint, human diversity, and biochemical activity. M. Kellis. MIT. Wednesday, November 7 8:00 AM 10:00 AM Concurrent Invited Session I (3-10) SESSION 6 Insights into Human Demography and Selection from Full Genome Sequencing Room 134, Lower Level North, Moscone Center Moderators: Jeffrey M. Kidd, Univ. of Michigan; Carlos D. Bustamante, Stanford Univ. Next-generation sequencing allows geneticists to directly test the extent and pattern of natural selection in the human genome. These new genomic data address previous concerns of ascertainment bias and accurate identification of causal alleles. Recently, population geneticists have proposed multiple, strong positive sweeps related to diet and immune defense, pervasive negative selection in and nearby genes, and adaptation by allele frequency shifts from standing variation. The proportion of the human genome attributable to these different patterns is currently under intense debate. Furthermore, selection is operating on the background of complex human demography, such as long-range continental migrations and population-specific bottlenecks. This symposium aims to provide diverse viewpoints on the different modes of selection operating on the human genome and a discussion of how demographic processes may have constrained evolution in both recent and ancient human history. 8:00 AM The effect of out-of-africa migrations on the distribution of deleterious alleles in diverse human genomes. B. M. Henn. Stanford Univ. 8:30 AM Genetic adaptations to new environments in humans. A. Di Rienzo. Univ. of Chicago. 9:00 AM Insights into selective sweeps and diversity from thousands of sequenced genomes. R. Hernandez. UCSF. 9:30 AM A genomic view of the demographic and adaptive history of African pygmies. L. Quintana- Murci. Inst. Pasteur, Paris, France. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

73 INVITED AND PLATFORM SESSIONS 71 Wednesday, November 7 8:00 AM 10:00 AM Concurrent Invited Session I (3-10) Wednesday, November 7 8:00 AM 10:00 AM Concurrent Invited Session I (3-10) SESSION 7 Age-Related Macular Degeneration GWAS and Beyond: Guiding Light for the Complex Neurodegenerative Diseases Gateway Ballroom 104, Lower Level South, Moscone Center Moderators: Anand Swaroop, NEI/NIH; Hemin Chin, NEI/NIH AMD is a complex multi-factorial neurodegenerative disease that is a major cause of visual impairment in the elderly. Genetic linkage and genome-wide association studies (GWAS) have been immensely successful in identifying genetic susceptibility loci in AMD and in providing insights into cellular pathways underlying pathogenesis of the disease. Numerous groups worldwide have validated the strong association of variants at CFH and ARMS2/HTRA1 loci with AMD risk, and genome-wide association studies have suggested the involvement of complement, extracellular matrix, angiogenesis and HDL cholesterol pathways. This session will discuss the current progress to carry out comprehensive genetic analyses of AMD, highlighting experimental approaches that may be applicable to other complex traits and multigenic diseases. The speakers in this session will provide the current status of meta-analysis of AMD- GWAS, targeted resequencing, and whole exome sequencing efforts to discover or search for rare causal variants and functional pathways, and diagnostic/therapeutic implications of genetic variants. Additionally, we will discuss the relevance of AMD genetics for other complex neurodegenerative diseases and the future of genetic studies. 8:00 AM The bigger the better: Searching for novel loci for age-related macular degeneration in a large consortium effort. I. Heid. Regensburg Univ. Med. Ctr., Germany. 8:30 AM From genetic association to causal alleles by resequencing and exome arrays: The stage after GWAS. G. Abecasis. Univ. of Michigan. 9:00 AM An integrated hypothesis of the development and progression of age-related macular degeneration based upon available genetic and biological data. G. S. Hageman. Univ. of Utah. 9:30 AM An updated recipe for Mendel s pea soup. M. A. Pericak-Vance. Univ. of Miami Miller Sch. of Med. SESSION 8 Yes Virginia, Family Studies Really Are Useful for Complex Traits in the Next-Generation Sequencing Era (session in honor of Dr. Robert Elston s contributions to human genetics in the year of his 80th birthday) Room 124, Lower Level North, Moscone Center Moderators: Michael A. Province, Washington Univ. in St. Louis; Francoise Clerget-Darpoux, INSERM U781, Univ. Paris V, France. The pros and cons of family designs as NGS targets in dissecting complex traits are presented. In the linkage era, family studies were ubiquitous, but they were largely neglected in the GWAS era, which concentrated mostly on unrelated subjects. But as attention now moves from the common to the rare variants that can only be completely interrogated through sequencing, it is useful to at least consider whether the designs that were optimal for GWAS remain so for NGS studies. Pedigrees seem to have at least some advantages over studies of unrelateds for studying rare variation. First, it may be easier to distinguish true rare variant calls from sequence errors in family designs than it is in unrelated cohorts, since there is the added dimension of pedigree consistency information, especially for low coverage. Second, a key statistical challenge to analyzing the phenotype/ genotype correlation with rare variants, is finding enough copies of any one variant allele with which to make inferences (hence the various collapsing or burden tests, which combine multiple nearby rare variants into a single test). For any given very rare allele, sampling additional unrelateds is an inefficient strategy to find more copies of that allele, whereas family members of allele carriers are much more likely to be allele carriers themselves. On the other hand, a disadvantage of family designs is that there is a smaller diversity of founder mutations, so less of the overall population of alleles is measured per individual. This session emphasizes the results of real sequencing studies in pedigrees as well as simulation results to delineate the areas in which family designs offer advantages and where they offer disadvantages over sequencing unrelated subjects, such as case-control designs. 8:00 AM Whole genome sequencing in large pedigrees for the identification of human QTLs. J. Blangero. Texas Biomed. Res. Inst., Austin. 8:30 AM Linkage and association information should be considered as complementary and not redundant. F. Clerget-Darpoux. INSERM U781, Univ. Paris V, France. 9:00 AM Power to find rare causal variants in pedigrees. M. A. Province. Washington Univ. in St. Louis. 9:30 AM Whither human genetics? R. C. Elston. Case Western Reserve Univ. Taking Photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation. INVITED AND PLATFORM SESSIONS

74 72 INVITED AND PLATFORM SESSIONS Wednesday, November 7 8:00 AM 10:00 AM Concurrent Invited Session I (3-10) SESSION 9 Surveying Customer Responses to Personal Genetic Services Room 132, Lower Level North, Moscone Center Moderator: J. Scott Roberts, Univ. of Michigan This session will feature presentation of empirical data on the responses of personal genome testing consumers to their individual genomic information. Dr. David Kaufman of Johns Hopkins University will discuss publicly available interpretations of individual whole genome sequence data in light of his Center s prior work on direct-to-consumer (DTC) testing and return of individual genetic research results. Dr. Cinnamon Bloss of the Scripps Genomic Health Initiative (SGHI) will present new long-term follow-up data from the SGHI, including data related to DTC pharmacogenomic testing and genetic ancestry testing. Dr. Sandra Lee of Stanford University will describe an anthropological study of how the public integrates information on population genetic variation in their interpretation of individualized genetic risk information for disease and drug response. The session will conclude with a panel discussion moderated by Dr. Scott Roberts of the University of Michigan, joint PI (with Dr. Robert Green at Brigham and Women s Hospital) of the Impact of Personal Genomics (PGen) Study. The PGen Study is a longitudinal survey study examining consumers response to personal genome testing, including their motivations and expectations, risk perceptions, health behaviors and intentions. Two personal genomics companies, 23andMe and Pathway Genomics, are collaborators on the PGen Study, and the closing panel will feature a discussion that includes company representatives Dr. Joanna Mountain and Dr. Tanya Moreno. In this discussion, panelists and audience members will share their perspectives on the potential benefits and risks involved in research partnerships between academicians and personal genomics companies. 8:00 AM Interpretomics: Using studies of DTC testing and the return of research results to shape the interpretation of personal whole genomic sequence data. D. Kaufman. Genet. and Publ. Policy Ctr., Johns Hopkins Univ. 8:30 AM Impact of DTC genomic testing at longterm follow-up. C. S. Bloss. Scripps Translational Sci. Inst. and Scripps Hlth. 9:00 AM Rendering population differences meaningful: A study of consumer interpretation of genetic diversity. S. S-J. Lee. Stanford Univ. Med. Sch. 9:30 AM The role of personal genomic testing companies in research: A panel discussion featuring industry and academic perspectives. Panelists: J. Mountain 1, T. Moreno 2, J. S. Roberts 3. 1) 23andMe Inc., Mountain View, CA; 2) Genomics Corp., San Diego; 3) Univ. of Michigan. Wednesday, November 7 8:00 AM 10:00 AM Concurrent Invited Session I (3-10) SESSION 10 Metabolism, Metals, and Neurodegeneration: Toward Enhanced Understanding of Disease Mechanisms and Rational Therapeutics Room 130, Lower Level North, Moscone Center Moderators: Stephen G. Kaler, NICHD/NIH; Susan J. Hayflick, Oregon Hlth. & Sci. Univ. This session will focus on the expanding knowledge concerning the influence of inborn errors of metabolism and disorders of trace metal homeostasis on neurodegeneration. Increasing numbers of clinical phenotypes and molecular defects are now associated with disordered metabolism in the central and peripheral nervous systems. These include Alzheimer and Parkinson diseases, Menkes and Wilson diseases, ATP7A-related distal motor neuropathy, acetyl CoA transporter 1-related hypocupremia, pantothenate kinase-associated neurodegeneration, infantile neuroaxonal dystrophy, dystonia-parkinsonism, Friedreich ataxia, hemochromatosis, and iron sulfur cluster scaffold myopathy. Expert speakers will discuss and review translational research advances relevant to these conditions, as well as emerging data on disease mechanisms, pathophysiology, and potential novel remedies. 8:00 AM Alzheimer disease and the metal hypothesis. R. E. Tanzi. Massachusetts Gen. Hosp. 8:30 AM Neurodegeneration with brain iron accumulation. S. J. Hayflick. Oregon Hlth. & Sci. Univ. 9:00 AM Friedreich ataxia and diseases of iron sulfur cluster assembly. T. A. Rouault. NICHD/NIH. 9:20 AM Neurodegeneration and disorders of copper transport. S. G. Kaler. NICHD/NIH. 9:40 AM Exploring the link between glucocerebrosidase mutations and Parkinson disease. E. Sidransky. NHGRI/NIH. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

75 INVITED AND PLATFORM SESSIONS 73 Wednesday, November 7 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session A (11-19) SESSION 11 Genetics of Autism Spectrum Disorders Hall D, Lower Level North, Moscone Center Moderators: Fuki M. Hisama, Univ. of Washington; Dan E. Arking, Johns Hopkins Sch. of Med. 7/10:30 Genetic epidemiology of autism spectrum disorder in a cohort of over 11,000 affected sibships and half-sibships: Evidence of genetic and maternal environmental effects. N. Risch, T. J. Hoffmann, M. Anderson, L. A. Croen, J. Grether, G. Windham. 8/10:45 Identifying inherited autism mutations using whole exome sequencing. T. W. Yu, M. H. Chahrour, M. E. Coulter, S. Jiralerspong, K. Okamura-Ikeda, K. Schmitz-Abe, G. H. Mochida, J. N. Partlow, R. S. Hill, M. Al-Saffar, N. M. Mukaddes, A. Hashmi, S. Balkhy, G. G. Gascon, O. Oner, S. Al-Saad, T. Ben-Omran, L. Al-Gazali, V. Eapen, C. Stevens, S. Gabriel, K. Markianos, H. Taniguchi, N. E. Braverman, E. M. Morrow, C. A. Walsh. 9/11:00 Identical by descent filtering in extended families reveals novel autism genes detected by exome sequencing. H. N. Cukier, N. D. Dueker, S. H. Slifer, J. M. Lee, P. L. Whitehead, E. Lalanne, N. Leyva, I. Konidari, R. C. Gentry, W. F. Hulme, D. Van Booven, D. J. Hedges, V. Mayo, S. S. Ramsook, B. A. Barrionuevo, J. M. Jaworski, M. A. Schmidt, J. L. Haines, M. L. Cuccaro, J. R. Gilbert, M. A. Pericak- Vance. 10/11:15 The discovery and validation of genes recurrently disrupted in autism spectrum disorders. B. J. O Roak, L. Vives, A. Kumar, I. B. Stanaway, J. Egertson, E. Turner, C. Lee, G. L. Carvil, I. G. Phelps, D. R. O Day, W. Fu, J. Hiatt, B. Martin, N. Krumm, B. P. Coe, R. Levy, E. Borenstein, D. A. Nickerson, H. C. Mefford, D. Doherty, J. M. Akey, R. Bernier, E. E. Eichler, J. A. Shendure. 11/11:30 Rare complete human knockouts: Population distribution and significant role in autism spectrum disorders. E. T. Lim, M. J. Daly, ARRA Autism Sequencing Consortium. 12/11:45 Exome-based discovery of CNVs in simplex autism families. N. Krumm, B. Nelson, S. Girirajan, M. Dennis, C. Baker, M. Malig, NHLBI Exome Sequencing Project, A. Quinlan, D. A. Nickerson, E. E. Eichler. 13/12:00 Delta catenin (CTNND2): Genetics and function of a novel autism gene.t. Turner, E. Oh, Y. Liu, M. X. Sosa, S. Sanders, K. Sharma, D. Moreno- De-Luca, T. Plona, K. Pike, D. Soppet, M. W. Smith, M. State, S. W. Cheung, C. Lese Martin, R. Huganir, E. Cook, N. Katsanis, A. Chakravarti. 14/12:15 Novel hotspots of recurrent copy number variation associated with autism spectrum disorder. S. Girirajan, M. Y. Dennis, C. Baker, M. M. Malig, B. P. Coe, C. D. Campbell, K. Mark, T. Vu, C. Alkan, Z. Cheng, R. Bernier, E. E. Eichler. 15/12:30 Cluster analysis defines subgroups of phenotypic expression for autism spectrum disorders. O. J. Veatch, B. Yaspan, N. Schnetz- Boutaud, M. A. Pericak-Vance, J. L. Haines. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

76 74 INVITED AND PLATFORM SESSIONS Wednesday, November 7 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session A (11-19) SESSION 12 New Methods for Big Data Gateway Ballroom 103, Lower Level South, Moscone Center Moderators: Elizabeth Marchani, Univ. of Washington; Rita Cantor-Chiu, UCLA Sch. of Med. 16/10:30 The detection, structure and uses of haplotype identity in population genetic data. D. Xifara, I. Mathieson, G. McVean. 17/10:45 Inferring and sequencing the founding bottleneck of Ashkenazim. I. Pe er, S. Carmi, S. Mukherjee, N. Parlamee, M. Bowen, K. Hui, V. Joseph, P. F. Palamara, L. Ozelius, I. Peter, A. Darvasi, K. Offit, H. Ostrer, J. Cho, L. Clark, G. Atzmon, T. Lencz, Ashkenazi Genome Consortium. 18/11:00 Statistical methods for association test of rare variants using summarized data without individual-subject information. Q. Zhang, I. Borecki, M. A. Province. 19/11:15 Testing for rare variant associations in the presence of missing data. P. Livermore Auer, S. Leal, G. Wang, NHLBI Exome Sequencing Project. 20/11:30 Quantitative trait locus analysis for nextgeneration sequencing with the functional linear models. M. Xiong, L. Luo, Y. Zhu. 21/11:45 A rapid and powerful method for proteinprotein interaction- and pathway-based association analysis in genome-wide association studies. M. Li, S. Kwan, H. Gui, P. Sham. 22/12:00 Statistics for X-chromosome association. U. Ozbek, D. E. Weeks, W. Chen, J. Shaffer, S. M. Purcell, E. Feingold. 23/12:15 Joint association analysis of pleiotropy SNPs using GWAS summary statistics. R. M. Salem, J. N. Hirschhorn. 24/12:30 Multivariate regression-based analysis of relative abundance data in metagenomics. O. Libiger, N. J. Schork. Wednesday, November 7 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session A (11-19) SESSION 13 Cancer Genetics I: Rare Variants Room 135, Lower Level North, Moscone Center Moderators: Ellen L. Goode, Mayo Clin. Col. of Med.; John D. McPherson, Ontario Inst. for Cancer Res., Canada 25/10:30 Exome sequencing of more than 6,700 samples and the study of genetic susceptibility to common cancer. A. Kiezun, A. McKenna, G. Kryukov, G. Getz. 26/10:45 Exome sequencing of families severely affected with breast cancer suggests eight new candidate genes: ATR, BAP1, CHEK1, GEN1, KANK4, OBSL1, RAD51B and TP53BP1. C. H. Spurrell, A. M. Thornton, M. K. Lee, S. Casadei, S. Ng, T. Walsh, J. Shendure, M. C. King. 27/11:00 Rare variants in XRCC2 as breast cancer susceptibility alleles. F. S. Hilbers, M. C. Völker- Albert, W. W. Wiegant, M. P. G. Vreeswijk, N. Hoogerbrugge, J. C. Oosterwijk, J. M. Collee, M. C. Southey, P. Peterlongo, P. Radice, F. J. Couch, K. Offit, I. G. Campbell, J. Benitez, C. J. van Asperen, H. van Attikum, P. Devilee. 28/11:15 HOXB13 is a susceptibility gene for prostate cancer: Results from the International Consortium for Prostate Cancer Genetics. K. Cooney, W. Isaacs, J. Xu, E. Lange, L. Lu, S. Zheng, Z. Wong, L. Cannon-Albright, J. Stanford, E. A. Ostrander, C. Maier, J. Schleutker, D. Schaid, S. Thibodeau, G. Cancel-Tassin, F. Wiklund, R. Eeles, D. Easton, A. Wittemore, G. Giles, W. Catalona, D. Mandal, W. Foulkes, J. Carpten, D. Seminara on behalf of International Consortium for Prostate Cancer Genetics. 29/11:30 Parkinson disease and melanoma: A common genetic pathway linked to PARKIN inactivation. H. Hu, N. Dumaz, S. Lesage, L. Michel, V. Descamps, S. Mourah, C. Lebbé, N. Basset-Seguin, M. Bagot, A. Bensussan, L. Deschamps, M.-T. Leccia, A. Tsalamlal, P. Sivaramakrishna Rachakonda, S. Klebe, K. Rajive, C. Kannengiesser, A. Couvelard, B. Grandchamp, L. Thomas, A. Brice, N. Soufir. 30/11:45 Exome sequencing in families at high risk for lymphoid malignancies. L. R. Goldin, M. L. McMaster, M. Rotunno, K. B. Jacobs, L. Burdette, M. Malasky, A. Hutchinson, M. Cullen, J. Boland, M. Yeager, M. A. Tucker, S. J. Chanock, N. E. Caporaso. 31/12:00 Rare allelic forms of PRDM9 associated with childhood leukemia. J. Hussin, D. Sinnett, F. Casals, Y. Idaghdour, V. Bruat, V. Saillour, J.-C. Grenier, J. Healy, T. de Malliard, J.-F. Spinella, M. Lariviere, S. Busche, G. Gibson, A. Andersson, L. Holmfeldt, J. Ma, L. Wei, J. Zhang, G. Andelfinger, J. R. Downing, C. M. Mullighan, P. Awadalla. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

77 INVITED AND PLATFORM SESSIONS 75 Wednesday, November 7 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session A (11-19) (SESSION 13, continued) Wednesday, November 7 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session A (11-19) 32/12:15 De novo mutation of the TGF beta family in early-onset ovarian cancer. I. Tournier, F. Charbonnier, S. Coutant, K. Walton, R. Marlin, M. Vezain, J. Tinat, E. Angot, R. Sesboué, J.-C. Sabourin, D. Vaur, C. Harrison, T. Frebourg. 33/12:30 Somatic activating mutations in PIK3CA cause progressive segmental overgrowth. M. J. Lindhurst, V. E. R. Parker, F. Payne, J. C. Sapp, S. Rudge, J. Harris, A. M. Witkowski, Q. Zhang, M. P. Groeneveld, C. E. Scott, A. Daly, S. M. Huson, L. L. Tosi, M. L. Cunningham, T. N. Darling, J. Geer, Z. Gucev, P. A. Kreiger, V. R. Sutton, M. M. Thacker, C. Tziotzios, A. K. Dixon, T. Helliwell, S. O Rahilly, D. B. Savage, M. J. O. Wakelam, R. K. Semple, I. Barroso, L. G. Biesecker. SESSION 14 Quantitation and Measurement of Regulatory Oversight by the Cell Room 134, Lower Level North, Moscone Center Moderators: Richard M. Myers, HudsonAlpha Inst. for Biotechnol., Huntsville, AL; Jeffrey C. Barrett, Wellcome Trust Sanger Inst., U.K. 34/10:30 ChipEnrich: Gene set enrichment testing for ChIP-seq data. R. P. Welch, C. Lee, L. J. Scott, R. A. Smith, P. Imbriano, M. A. Sartor. 35/10:45 Enhanced exome sequencing to capture genome-wide common variants. I. C. R. M. Kolder, K. I. Morley, E. Birney, I. Dunham, J. C. Barrett. 36/11:00 Complete HIV-1 genomes from sequencing single molecules: Simple and complex samples. M. P. S. Brown, M. Schaefer, Y. Gao, W. Kilembe, S. Allen, E. Hunter, E. E. Paxinos. 37/11:15 DeTCT pipeline: A software pipeline for the analysis of transcript count data. J. A. Morris, J. E. Collins, I. Sealy, N. Wali, E. Busch-Netwich, R. White, D. L. Stemple, J. C. Barrett. 38/11:30 Fast genome-wide QTL association mapping with pedigrees. H. Zhou, E. M. Sobel, K. Lange. 39/11:45 Discovering SNPs regulating human gene expression using allele specific expression from RNA-seq data. E. Eskin, E. Kang, B. Han, A. J. Lusis, L. Martin, S. Shiffman. 40/12:00 Association of genetic variation affecting exon skipping to disease susceptibility. Y. Lee, H. Im, W. Hernandez, N. J. Cox. 41/12:15 Haplotype-based variant detection and interpretation enables the population-scale analysis of multi-nucleotide sequence variants. E. Garrison, J. A. Rosenfeld, D. MacArthur, Y. Xue, Z. Iqbal, S. Balasubramanian, L. Habegger, R. Poplin, M. A. DePristo, G. Marth, M. B. Gerstein, C. Tyler-Smith, 1000 Genomes Project. 42/12:30 eqtl analysis identifies novel associations between genotype and gene expression in the human intestine. B. Kabakchiev, NIDDK IBD Genetics Consortium, M. S. Silverberg. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

78 76 INVITED AND PLATFORM SESSIONS Wednesday, November 7 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session A (11-19) SESSION 15 New Loci for Obesity, Diabetes, and Related Traits Gateway Ballroom 104, Lower Level South, Moscone Center Moderators: Jose Florez, Massachusetts Gen. Hosp.; Richa Saxena, Massachusetts Gen. Hosp. 43/10:30 A genome-wide association analysis of early-onset severe obesity: The SCOOP project. E. Wheeler, N. Huang, E. Bochukova, S. Lindsay, J. Keogh, R. J. F. Loos, N. J. Wareham, S. O Rahilly, M. Hurles, I. Barroso, I. S. Farooqi. 44/10:45 Mapping obesity traits using an integrated `omics approach in adipose tissue from female twins. A. K. Hedman, J. K. Sandling, E. Grundberg, K. S. Small, E. Meduri, S. Keildson, A. Nica, A. Buil, J. T. Bell, J. Nisbet, M. Sekowska, A. Wilk, A. Barrett, N. Hassanali, T.-P. Yang, D. Glass, S.-Y. Shin, L. Parts, N. Soranzo, R. Durbin, K. Ahmadi, K. T. Zondervan, C. M. Lindgren, T. D. Spector, E. T. Dermitzakis, M. I. McCarthy, P. Deloukas for MuTHER Consortium. 45/11:00 Whole exome sequencing identifies candidate causal genes for severe insulin resistance. F. Payne, A. Daly, W. Bottomley, E. Raffan, E. Goncalves Serra, A. Thompson, D. B. Savage, R. K. Semple, S. O Rahilly, I. Barroso, UK10K Consortium. 46/11:15 Exome analysis in 8,232 Finnish men identifies novel loci and low-frequency variants for insulin processing and secretion. J. R. Huyghe, A. U. Jackson, M. P. Fogarty, A. Stanáková, H. M. Stringham, M. L. Buchkovich, C. Fuchsberger, J. Paananen, P. S. Chines, T. M. Teslovich, J. M. Romm, H. Ling, I. McMullen, R. Ingersoll, E. W. Pugh, K. F. Doheny, J. Kuusisto, L. J. Scott, F. S. Collins, G. R. Abecasis, R. M. Watanabe, M. Boehnke, M. Laakso, K. L. Mohlke. 47/11:30 Global genomic and transcriptomic variation in human pancreatic islets reveals novel loci associated with type 2 diabetes and related traits. J. Fadista, P. Vikman, I. Mollet, E. O. Laakso, U. Krus, O. Hansson, L. Groop. 48/11:45 Identification of a novel genome-wide significant association with type 2 diabetes risk in Mexicans and Mexican Americans. A. L. Williams, H. García-Ortiz, M. J. Gómez-Vázquez, C. A. Haiman, A. Huerta-Chagoya, A. K. Manning, C. Márquez-Luna, H. Moreno-Macías for SIGMA Type 2 Diabetes Consortium. 49/12:00 Discovery and fine-mapping of type 2 diabetes susceptibility loci through trans-ethnic meta-analysis. A. Mahajan, J. E. Below, W. Zhang, M. J. Go, E. Parra, A. P. Morris, AGEN-T2D, DIAGRAM, MA-T2D and SA-T2D Consortia. 50/12:15 TCF7L2 genetic variation is associated with impaired incretin effect and lower glucagon. B. Chamarthi, K. R. Littleton, V. Kaur, L. Chen, A. K. Manning, M. K. Thomas, M. S. Hudson, J. C. Florez. 51/12:30 Novel locus including FGF21 is associated with dietary macronutrient intake. A. Y. Chu, T. Workalemahu, N. P. Paynter, L. M. Rose, F. Giulianini, CHARGE Nutrition Working Group, Q. Qi, G. C. Curhan, E. B. Rimm, D. J. Hunter, L. R. Pasquale, P. M. Ridker, F. B. Hu, D. I. Chasman, L. Qi on behalf of DietGen Consortium. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

79 INVITED AND PLATFORM SESSIONS 77 Wednesday, November 7 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session A (11-19) SESSION 16 Neuromuscular Disease and Deafness Room 124, Lower Level North, Moscone Center Moderators: Anthony Antonellis, Univ. of Michigan; Thomas Glover, Univ. of Michigan 52/10:30 The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P). H. Ishiura, W. Sako, M. Yoshida, T. Kawarai, O. Tanabe, J. Goto, Y. Takahashi, H. Date, J. Mitsui, B. Ahsan, Y. Ichikawa, A. Iwata, H. Yoshino, Y. Izumi, K. Fujita, K. Maeda, S. Goto, H. Koizumi, R. Morigaki, M. Ikemura, N. Yamauchi, S. Murayama, G. Nicholson, H. Ito, G. Sobue, M. Nakagawa, R. Kaji, S. Tsuji. 53/10:45 Mutation in the autophagy-related TECPR2 gene causes hereditary spastic paraparesis. D. Oz-Levi, B. Ben-Zeev, E. Ruzzo, Y. Hitomi, A. Gelman, K. Pelak, Y. Anikster, H. Reznik- Wolf, I. Bar-Joseph, T. Olender, A. Alkelai, M. Weiss, E. Ben-Asher, D. Ge, K. Shianna, Z. Elazar, D. Goldstein, E. Pras, D. Lancet. 54/11:00 Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. J. Melki, J. Zhou, M. Tawk, F. D. Tiziano, J. Veillet, M. Bayés, F. Nolent, V. Garcia, S. Servidei, E. Bertini, F. Castro-Giner, Y. Renda, S. Carpentier, N. Andrieu-Abadie, I. Gut, T. Levade, H. Topaloglu. 55/11:15 Genetic variants in chromatin modifying genes cause D4Z4 hypomethylation, DUX4 expression, and contraction-independent facioscapulohumeral muscular dystrophy (FSHD2). D. G. Miller, R. J. L. F. Lemmers, L. M. Petek, J. Balog, P. J. van der Vliet, G. J. Block, J. W. Lim, G. N. Filippova, A. M. Amell, G. W. E. Santen, B. Bakker, M. J. Bamshad, S. J. Tapscott, R. Tawil, S. M. van der Maarel. 56/11:30 Unexpected extension of the phenotype spectrum associated with SMAD3 mutations in aneurysms-osteoarthritis syndrome. M. Aubart, D. Gobert, N. Hanna, C. Muti, J. Roume, V. Cusin, B. Grandchamp, L. Gouya, D. Detains, G. Jondeau, C. Boileau. 57/11:45 Whole-exome sequencing for autosomal recessive non-syndromic deafness: 93% of known genes covered and OTOGL and SLITRK6 are novel genes. M. Tekin, O. Diaz-Horta, D. Duman, J. Foster II, A. Sirmaci, M. Gonzalez, N. Mahdieh, M. Bonyadi, F. B. Cengiz, R. Ulloa, S. Zuchner, S. Blanton. 58/12:00 Whole exome sequencing and more to unravel the genetics and genotype-phenotype correlations for deafness. H. Kremer, M. Schraders, C. Zazo Seco, J. Oostrik, I. Feenstra, A. M. M. Oonk, E. van Beelen, M. van Bers, K. Neveling, J. A. Veltman, R. J. C. Admiraal, H. P. M. Kunst, R. J. E. Pennings, E. H. Hoefsloot. 59/12:15 A mutation in Ca 2+ binding protein 2, expressed in cochlear inner hair cells, causes autosomal recessive hearing impairment. I. Schrauwen, S. Helfmann, A. Inagaki, F. Wolk, M. A. Tabatabaiefar, M. M. Picher, M. Sommen, C. Zazo Seco, H. Kremer, A. Dheedene, C. Claes, E. Fransen, M. A. Chaleshtori, P. Coucke, A. Lee, T. Moser, G. Van Camp. 60/12:30 Comprehensive diagnosis for hearing loss using personal genomics: The first 100 cases. E. Shearer, E. A. Black-Ziegelbein, M. S. Hildebrand, A. P. DeLuca, R. W. Eppsteiner, S. E. Scherer, T. E. Scheetz, T. L. Casavant, R. J. H. Smith. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

80 78 INVITED AND PLATFORM SESSIONS Wednesday, November 7 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session A (11-19) SESSION 17 Chromosomes and Disease Room 132, Lower Level North, Moscone Center Moderators: Christa Lese Martin, Emory Univ.; Blake Ballif, Signature Genomics, Spokane, WA 61/10:30 Characterization of de novo copy-number variations in two subjects with a constitutional CNV mutator phenotype. P. Liu, K. Walter, K. Writzl, V. Gelowani, S. Lindsay, C. M. B. Carvalho, M. Withers, J. Wiszniewska, A. Patel, B. Rautenstrauss, M. Hurles, J. R. Lupski. 62/10:45 Associations between gene expression and phenotypes in 16p11.2 rearrangements. E. Migliavacca, K. Mannik, F. Zufferey, N. D. Beckmann, L. Harewood, A. Mace, Z. Kutalik, L. Hippolyte, A. Maillard, V. Siffredi, R. M. Witwicki, G. Didelot, S. Jacquemont, S. Bergmann, J. S. Beckmann, 16p11.2 European Consortium Collaborators. 63/11:00 De novo triplication can arise from a duplication of the 17p12 region and confers a severe Charcot-Marie-Tooth, type 1A phenotype. V. Gelowani, P. Liu, F. Zhang, S. B. Shachar, S. D. Batish, E. Roney, V. Drory, A. Orr-Urtreger, J. R. Lupski. 64/11:15 A long, non-coding RNA from the Prader- Willi critical region forms a subnuclear cloud and recruits transcriptional activating complexes to the SNORD 116 locus in postnatal neurons. W. T. Powell, R. Coulson, F. Crary, S. Wong, D. H. Yasui, J. M. LaSalle. 65/11:30 Molecular analysis of patients whose clinical features overlap the 22q11.2 deletion syndrome. S. Saitta, T. Busse, D. McDonald-McGinn, E. Zackai, S. Woyciechowski, J. Garbarini, E. Goldmuntz, C. Van Ravenswaaij, L. Hoefsloot, B. Emanuel, D. Driscoll. 66/11:45 Mouse model implicates GNB3copy number in a novel childhood obesity syndrome. I. S. Goldlust, K. E. Hermetz, L. M. Catalano, R. A. Cozad, R. T. Barfield, K. N. Conneely, J. G. Mulle, S. Dharamrup, M. Hegde, K. Kim, B. Angle, A. Colley, A. E. Webb, E. C. Thorland, J. Ellison, J. Rosenfeld, B. C. Ballif, L. G. Shaffer, L. A. Demmer, Unique Rare Chromosome Support, M. K. Rudd. 67/12:00 Modeling neurogenesis impairment in Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21. Y. Hibaoui, I. Grad, S. R. Sailani, A. Letourneau, S. Dahoun, S. Gimelli, M. F. Pelte, F. Béna, S. E. Antonarakis, A. Feki. 68/12:15 Discovery and interpretation of balanced chromosomal aberrations in neurodevelopmental abnormalities and prenatal diagnostics. M. E. Talkowski, V. Pillalamarri, I. Blumenthal, C. Hanscom, Z. Ordulu, J. Rosenfeld, L. G. Shaffer, J. F. Gusella, C. C. Morton. 69/12:30 Predisposition of acrocentric short arm fusions due to nuclear location, nucleolar disorganization, and telomere-induced DNA damage. K. M. Stimpson, L. L. Sullivan, S. Chen, B. A. Sullivan. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

81 INVITED AND PLATFORM SESSIONS 79 Wednesday, November 7 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session A (11-19) SESSION 18 Prenatal and Perinatal Genetics Room 130, Lower Level North, Moscone Center Moderators: Natalie Blagowidow, Harvey Inst. for Human Genet., Baltimore; David Chitayat, Mount Sinai Hosp., Toronto, Canada 70/10:30 Lessons learned from next-gen cytogenetics: Whole genome sequence-based prenatal diagnosis of apparently balanced de novo chromosome rearrangements. Z. Ordulu, M. Talkowski, V. Pillalamarri, S. Pereira, I. Blumenthal, C. Hanscom, A. M. Lindgren, N. Hussain, S. Connolly, L. E. Wilkins-Haug, J. F. Gusella, C. C. Morton. 71/10:45 The use of chromosome microarray analysis as a first-line test in pregnancies with a priori low risk for detection of submicroscopic chromosomal abnormalities. F. Fiorentino, S. Napoletano, C. Caiazzo, M. Sessa, S. Bono, L. Spizzichino, S. Michiorri, A. Gordon, A. Nuccitelli, G. Rizzo, M. Baldi. 72/11:00 The challenge of preconceptional, preimplantation, and prenatal genetic diagnoses of mitochondrial DNA disorders. J. Steffann, S. Monnot, N. Gigarel, P. Vachin, E. Herzog, P. Burlet, N. Frydman, A. Benachi, G. Chalouhi, Y. Ville, R. Frydman, A.-S. Lebre, A. Rotig, D. C. Samuels, C. Elie, A. Munnich, J.-P. Bonnefont. 73/11:15 The incidence and spectrum of genomic imbalance in products of conception: New insights from SNP microarray analysis of 2,400 miscarriage specimens. B. Levy, S. Sigurjonsson, B. J. Pettersen, M. K. Maisenbacher, Z. P. Demko, R. Lathi, R. Tao, V. Aggarwal, M. Rabinowitz. 74/11:30 Noninvasive whole-genome sequencing of a human fetus. J. O. Kitzman, M. W. Snyder, M. Ventura, A. P. Lewis, R. Qiu, L. E. Simmons, H. S. Gammill, C. E. Rubens, D. A. Santillan, M. K. Santillan, J. C. Murray, H. K. Tabor, M. J. Bamshad, E. E. Eichler, J. A. Shendure. 75/11:45 Spina bifida risk is conferred by multiple polymorphisms in folate one-carbon pathway genes. D. Gilbert, K. Lazaruk, J. Stein, J. Hardin, J. Witte, G. Shaw, E. Lammer, N. Marini, J. Rine. 76/12:00 Bioinformatics approach for identifying the genetic contributions to preeclampsia. A.Uzun, I. Kurihara, J. Tavormina, R. Cabezas, A. Laliberte, A. Dewan, E. Triche, J. Padbury. 77/12:15 Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations. M. Legendre, M. Gonzales, G. Goudefroye, F. Bilan, P. Parisot, M. J. Perez, M. Bonnière, B. Bessières, J. Martinovic, A.-L. Delezoide, F. Jossic, C. Fallet- Bianco, M. Bucourt, J. Tantau, P. Loget, L. Loeuillet, N. Laurent, B. Leroy, H. Salhi, C. Rouleau, F. Guimiot, C. Chelin, A. Bazin, C. Alby, A. Kitzis, Y. Ville, F. Encha-Razavi, B. GilbertDussardier, M. Vekemans, T. Attié-Bitach, SOFFOET. 78/12:30 Genetic normalization of day-3 embryos: Results from two independent preimplantation genetic screening laboratories. P. Brezina, E. Littman, Y. Sun, V. Phan, R. Anchan, A. Barker, M. Hughes, G. R. Cutting, W. G. Kearns. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

82 80 INVITED AND PLATFORM SESSIONS Wednesday, November 7 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session A (11-19) SESSION 19 Vascular and Congenital Heart Disease Room 123, Lower Level North, Moscone Center Moderators: Amy Roberts, Children s Hosp. Boston; Bart L. Loeys, Univ. of Antwerp., Belgium 79/10:30 Heterozygous germline mutations in a prototypical TGF repressor cause Shprintzen- Goldberg syndrome with aortic aneurysm. A. J. Doyle, J. J. Doyle, M. E. Lindsay, S. L. Bessling, N. Huso, D. Schepers, L. Gillis, G. Mortier, L. Van Laer, D. W. Mohr, M. J. Caulfield, A. F. Scott, C. J. Curry, B. Loeys, A. S. McCallion, H. C. Dietz. 80/10:45 Loss-of-function mutations intgfb2 cause Loeys-Dietz syndrome: Towards solving the TGF paradox in aortic aneurysmal disease. B. Loeys, M. E. Lindsay, D. Schepers, N. Ajit Bolar, J. Doyle, E. Gallo, J. Fert-Bober, M. J. E. Kempers, E. Fishman, Y. Chen, L. Myers, D. Bjeda, G. Oswald, B. M. Anderlid, M. Y. Yang, E. M. H. F. Bongers, J. Timmermans, A. C. Braverman, N. Canham, G. R. Mortier, H. G. Brunner, P. H. Byers, J. Van Eyk, L. Van Laer, H. Dietz. 81/11:00 Genetic dissection of aortic disease in the Marfan syndrome. F. Ramirez, L. Carta, M. Del Solar, M. Lindsay, H. Dietz, J. R. Cook. 82/11:15 Bicuspid aortic valve, aortic coarctation and patent ductus associated with MATR3 disruption in human and mouse. F. Quintero- Rivera, Q. J. Xi, K. M. Keppler-Noreuil, J. H. Lee, A. W. Higgins, R. Anchan, A. E. Roberts, G. A. P. Bruns, R. Berezney, B. D. Gelb, R. V. Lacro, D. J. Harris, A. Kamp, I. P. Moskowitz, W. Lu, C. C. Morton, J. F. Gusella, R. L. Maas. 83/11:30 Identification of the cause of blue rubber bleb nevus syndrome. J. Soblet, N. Limaye, M. Cordisco, A. Dompmartin, O. Enjolras, S. Holden, A. D. Irvine, C. Labrèze, A. Lanoel, P. N. Rieu, S. Syed, C. J. van der Vleuten, R. Watson, S. J. Fishman, J. B. Mulliken, L. M. Boon, M. Vikkula. 84/11:45 Identifying genetic determinants of congenital heart defect in Down syndrome. M. R. Sailani, P. Makrythanasis, S. Deutsch, A. Valsesia, E. Migliavacca, F. Santoni, A. Sharp, C. Serra-Juhe, S. Vicari, R. Rabionet, Y. Grattau, G. Dembour, A. Megarbane, R. Touraine, S. Kitsiou, H. Fryssira, C. Chatzisevastou-Loukidou, E. Kanavakis, G. Merla, L. Perez-Jurado, X. Estivill, J. Delabar, S. E. Antonarakis. 85/12:00 Transcriptome-wide decreased variation in gene expression of Down syndrome fibroblasts: Selection or canalization? K. Popadin, A. Letourneau, F. Santoni, S. E. Antonarakis. 86/12:15 Mutations in OLFML2B within the QT interval associated region 1q23.3 disturb cardiac repolarization, predispose to Long-QT syndrome and to sudden infant death syndrome. A. Pfeufer, C. Congiu, Z. Schäfer, H. Prucha, M. Vennemann, I. Sinicina, N. Strutz-Seebohm, H. Kartmann, M. Schell, E. Kremmer, E. R. Behr, N. H. Bishopric, R. J. Myerburg, L. Crotti, P. J. Schwartz, A. A. Hicks, P. P. Pramstaller, W. Rottbauer, S. Kääb, T. Meitinger, M. Näbauer, M. Cohen, M. Donner, D. T. Mage, H. W. Mewes, T. Bajanowski, G. Seebohm, M. Ueffing, C. J. Gloeckner. 87/12:30 The impact of inherited genetic variants associated with lipid profile, hypertension, and coronary artery disease on the risk of intracranial and abdominal aortic aneurysms. F. N. G. van `t Hof, Y. M. Ruigrok, A. F. Baas, L. A. L. M. Kiemeney, S. H. Vermeulen, A. G. Uitterlinden, F. Rivadeneira, A. Hofman, G. J. E. Rinkel, P. I. W. de Bakker. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

83 INVITED AND PLATFORM SESSIONS 81 Wednesday, November 7 4:30 PM 6:30 PM SESSION 20 Invited Presidential Symposium: Gene Discovery and Patent Law: Present Experience in the U.S. and in Europe Hall D, Lower Level North, Moscone Center With the present extraordinary pace of gene discovery, the question of who, if anyone, owns newly discovered genes will be critical to research and practice in human genetics. This issue was before the U.S. Supreme Court and remanded to the Federal Circuit Court of Appeals as Association for Molecular Pathology et al. v. Myriad Genetics, No where the decision was affirmed. In order to understand the many legal issues represented by this case, the role of this case in the larger context of legal issues in genetics, and the consequences of the decision on this case for research and services in human genetics, we have asked a panel of experts to educate us. Hank Greely, Professor of Law and Director of the Center for Law and Biosciences at Stanford University, will moderate the panel and present an overview of issues on which genetics and the law have come in contact in the U.S. Lori Andrews, Professor of Law at IIT Chicago-Kent College of Law and Fellow of the Hastings Institution, will describe the issues of the Myriad case and the roles of lawyers, practitioners and advocates in the evolution of the case. Mark Lemley, Professor of Law and Director of the Program in Law, Science, and Technology at Stanford University, will describe the meaning of patents in the context of intellectual property in general and gene discovery in particular. Gert Matthijs, Professor and Head of the Laboratory for Molecular Diagnostics at the Center for Human Genetics at University of Leuven, Belgium, will discuss the challenge to gene patenting brought to the European Patent Office by European human geneticists, the consequences for genetics services of the 2008 EPO decisions, and the present issues of gene patents in Europe. We intend these presentations to be educational rather than confrontational. Each speaker will present both their own views and alternative, opposing points of view. Our goal is to understand the complexity of these issues from the legal perspective. Considerable time after the presentations will be devoted to answering questions from the audience. We hope ASHG members will enjoy looking at these questions from a different angle and will find this perspective useful in their future research. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

84 82 INVITED AND PLATFORM SESSIONS Thursday, November 8 8:00 AM 10:00 AM Concurrent Invited Session II (21-28) SESSION 21 Mendelian Randomization: Using Genetic Variants to Inform Causality in Observational Epidemiology Room 135, Lower Level North, Moscone Center Moderators: David M. Evans, Univ. of Bristol, U.K.; Lyle J. Palmer, Univ. of Ontario, Canada A central problem in classical observational epidemiology concerns whether an association between a medically relevant exposure and a disease outcome reflects a causal relationship, or whether the purported association is a spurious result of latent confounding, bias or reverse causality. For example, does an inverse correlation between red wine drinking and heart disease, mean that red wine prevents heart attacks? The gold standard in proving whether an association reflects a causal relationship is the randomized controlled trial (RCT), in which participants are randomly assigned into groups that differ on average only in terms of their treatment (exposure) effect. However, RCTs are typically expensive, of long duration and in some cases, ethically or practically infeasible to implement. Mendelian randomization is a relatively new methodology that uses genetic variants that have been robustly associated with medically relevant exposures from genetic association studies (e.g. genetic variants related to BMI, smoking, alcohol etc.) to determine whether these exposures are truly causally related to disease outcomes. This session describes the principles behind Mendelian randomization, explains how Mendelian randomization can be used in epidemiological and gene expression studies to assess causality, describes its assumptions and limitations, and finally discusses extensions and promising alternatives to the method. 8:00 AM Mendelian randomization: Overcoming the limitations. G. D. Smith. Univ. of Bristol, U.K. 8:30 AM Utilizing multiple variants to improve Mendelian randomization studies. B. Pierce. Univ. of Chicago. 9:00 AM Application of Mendelian randomization analyses in prospective studies from Denmark. A. Tybjærg-Hansen. Univ. of Copenhagen, Denmark. 9:30 AM Mendelian randomization for HDL levels and implications for clinical risk prediction. B. F. Voight. Univ. of Pennsylvania Sch. of Med. Thursday, November 8 8:00 AM 10:00 AM Concurrent Invited Session II (21-28) SESSION 22 Common and Rare CNVs: Genesis, Patterns of Variations and Human Diseases Hall D, Lower Level North, Moscone Center Moderators: Chack Yung Yu, Nationwide Children s Hosp. and The Ohio State Univ.; Edward J. Hollox, Univ. of Leicester, U.K. Copy number variation (CNV) is a part of human genomic variation. There are two types of CNVs. The first type is common CNVs that occur at regions with complex genomic structures and engage genes involving in gene-environment interactions. The diversity of common CNVs both in terms of copy number and sequence variation is remarkable, yet because of their complex and challenging nature, they are under-studied. The second type is de novo or recent CNVs involved deletions and duplications of genomic DNA fragments that are rare individually but moderately frequent collectively, particularly among subjects with developmental, neurologic and psychiatric disorders. This session will highlight the complexity of common CNVs and discuss their roles in immune-mediated and cognitive diseases. In addition, the session will feature mechanistic studies to understand the generation of CNVs, and illustrate techniques for the detection and quantification of common and rare CNVs. 8:00 AM CNVs engaged in immune complex handling and autoimmune diseases: Complement C4 and immunoglobulin Fc-gamma receptors. C. Y. Yu. Nationwide Children s Hosp. and The Ohio State Univ. 8:30 AM Human lineage-specific CNVs: DUF 1220 domain copy number linked to cognitive disease and brain evolution. J. M. Sikela. Univ. of Colorado Sch. of Med., Aurora. 8:55 AM TAR: A mixed genomic disorder caused by a low-frequency regulatory SNP combined with a 1q21.1 microdeletion. W. H. Ouwehand. Cambridge Univ. and Wellcome Trust Sanger Inst., Cambridge, U.K. 9:20 AM Genetic and environmental risk factors for de novo CNVs. T. W. Glover. Univ. of Michigan. 9:40 AM Frequency estimation of low-level somatic mosaicism for pathogenic CNVs. P. T. Stankiewicz. Baylor Col. of Med. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

85 INVITED AND PLATFORM SESSIONS 83 Thursday, November 8 8:00 AM 10:00 AM Concurrent Invited Session II (21-28) SESSION 23 Advancing Gene Therapy to the Clinic: Molecular Medicines Come of Age Gateway Ballroom 104, Lower Level South, Moscone Center Moderator: Beverly Davidson, Univ. of Iowa The first evidence for uptake and expression of exogenous DNA in mammalian cells occurred in the 60s and 70s, and in 1980 the first experiment was performed in which patients were given plasmid DNA expressing protein lacking in their blood cells. Over the next 25 years researchers focused on improved vector development and better delivery modalities, along with more appropriate clinical trial design, to improve the chances to positively impact disease course in patients with genetic diseases. In this symposium we will present exciting advances in gene therapy for the eye (Jean Bennett), the liver (Kathy High), blood disorders (Maria-Gracia Roncolo), the leukodystrophies (Nathalie Cartier), and lysosomal storage diseases affecting the brain (Beverly Davidson). Data presented will span from preclinical studies in animal models to advanced clinical trials in affected individuals using several vector platforms. 8:00 AM Safety and efficacy of AAV-mediated gene transfer to liver for severe hemophilia B. K. High. Children s Hosp. of Philadelphia. 8:25 AM Safety and efficacy after AAV2 re- administration in subjects with congenital blindness due to RPE65 mutations. J. Bennett. Univ. of Pennsylvania. 8:45 AM Advancing gene therapy for ADA-SCID and beyond. M- G. Roncarolo. Univ. Vita-Salute San Raffaele., Milan, Italy. 9:10 AM Gene therapy for the leukodystrophies. N. Cartier. Saint Vincent de Paul Hosp., Paris, France. 9:30 AM AAV gene therapy for childhood onset neurological disease caused by lysosomal enzyme deficiencies. B. Davidson. Univ. of Iowa. Thursday, November 8 8:00 AM 10:00 AM Concurrent Invited Session II (21-28) SESSION 24 RNA Splicing in Human Development, Diseases and Natural Variation Room 124, Lower Level North, Moscone Center Moderators: David E. Symer, The Ohio State Univ. Comprehen. Cancer Ctr.; Richard A. Padgett, Lerner Res. Inst., Cleveland RNA splicing has been identified and studied for decades, but its roles in normal human biology and in contributing to human diseases have not been fully described to date. The presentations in this session will address the latest breakthroughs in understanding how RNA splicing and processing contribute to human development, diseases including various cancers and neurodegeneration, and natural variation. Also discussed will be the development of animal models of aberrant RNA splicing, and optimization of the latest technologies of RNA-seq and bioinformatics analysis of RNA splicing variation. 8:00 AM Functional consequences of minor spliceosomal snrna mutations in human development and natural variation. D. E. Symer. The Ohio State Univ. Comprehen. Cancer Ctr. 8:25 AM Multicopy snrna genes and neurodegeneration. S. L. Ackerman. HHMI/The Jackson Lab., Bar Harbor, ME. 8:50 AM Understanding the chemical mechanisms and biological implications of splicing reactions. R. A. Padgett. Lerner Res. Inst., Cleveland. 9:15 AM Overlaying RNA maps onto human disease. R. B. Darnell. HHMI and Rockefeller Univ. 9:40 AM Seq-ins the Myotonic Dystrophy Transcriptome. E. Wang. MIT INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

86 84 INVITED AND PLATFORM SESSIONS Thursday, November 8 8:00 AM 10:00 AM Concurrent Invited Session II (21-28) SESSION 25 Genomic Medicine: ELSI Goes Mainstream Room 132, Lower Level North, Moscone Center Moderators: Wylie Burke, Univ. of Washington; James P. Evans, Univ. of North Carolina at Chapel Hill Next-generation sequencing of the human genome has the potential to predict disease risk, identify disease causation, and refine therapeutic interventions. As research-based sequencing moves into clinical practice, however, a number of ethical and social questions will enter mainstream practice, and will need to be addressed in a practical manner to inform best practices. For example, how do key stakeholders (patients, providers, researchers, and the public) view the risks and benefits of genome sequencing, and how can benefits be optimized and risks mitigated? How do we address children s rights as well as other family members rights with respect to potentially shared information learned from sequencing individuals? Empirical data can contribute to a better understanding of these issues; but what kinds of data are most relevant and how can they be used to inform practice and policy? How do we navigate the increasingly blurred line between research and clinical care? These issues will be discussed and empirical data presented by a panel of experts investigating the ethical and social issues of genome sequencing in a variety of research and patient populations. 8:00 AM Views of patients, parents of patients, and clinicians toward whole genome sequencing for clinical care management. A. A. Lemke. Med. Col. of Wisconsin. 8:30 AM My46: An innovative web-based approach to managing and returning results from exome and whole genome sequencing. H. K. Tabor. Seattle Children s Hosp. 9:00 AM Returning actionable results to family members in a pancreatic cancer biobank: Views of probands and family members. B. Koenig. Sch. of Nursing, UCSF. 9:20 AM Approaches and attitudes on return of WGS/WES results. K. Ormond. Stanford Univ. 9:40 AM Next steps in development of best practices for use of genome sequencing in clinical care. A. McGuire. Baylor Col. of Med. Thursday, November 8 8:00 AM 10:00 AM Concurrent Invited Session II (21-28) SESSION 26 Model Organism Genetics, Human Biology and Human Disease Gateway Ballroom 103, Lower Level South, Moscone Center Moderators: Phil Hieter, Univ. of British Columbia; Hal Dietz, Johns Hopkins Univ. Sch. of Med. Yeast, worms, flies, zebrafish, and mice are key model organisms that offer powerful experimental approaches for the study of biological processes relevant to human biology and disease. The genome sequencing projects of the 1990s reemphasized the striking extent to which all organisms are built from the same genes, and highlighted the enormous value of model experimental organisms for the study of evolutionarily conserved gene function. Few, if any, processes at the gene level are known to be unique to humans. Indeed, key aspects of most human disorders can be modeled in experimentally tractable organisms through the analysis of orthologous genes and pathways, using the genetic, biochemical and cell biological toolboxes that have been developed in each model organism. This symposium will accent the current relevance of model organism studies for the understanding, diagnosis, and treatment of human disease, and anticipate the future role of model organisms in human disease research. We chose to highlight a diverse set of biological processes and experimental systems to make the point that the principles of cross species analysis of basic gene function extend to the study of all human disorders. 8:00 AM Budding yeast: Lessons from yeast applied to the study of human genetic diseases of protein traffic. R. Schekman. Univ. of California, Berkeley. 8:30 AM The nematode worm: Mechanisms regulating aging in worms and man. C. Kenyon. UCSF. 9:00 AM The zebrafish: Zebrafish heart development and function. D. Stainier. Max Planck Inst. for Heart and Lung Res., Bad Nauheim, Germany. 9:30 AM The laboratory mouse: Mouse models of glaucoma and retinal ganglion cell loss. S. John. HHMI/The Jackson Lab., Bar Harbor, ME. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

87 INVITED AND PLATFORM SESSIONS 85 Thursday, November 8 8:00 AM 10:00 AM Concurrent Invited Session II (21-28) Thursday, November 8 8:00 AM 10:00 AM Concurrent Invited Session II (21-28) SESSION 27 Next-Generation Sequencing in Isolated Populations: Opportunities for Accelerated Gene Discovery in Complex Traits Room 134, Lower Level North, Moscone Center Moderators: William K. Scott, Univ. of Miami; Jeffrey R. O Connell, Univ. of Maryland Baltimore This session will present recent developments in the application of whole-exome or whole-genome sequencing (collectively `next-generation sequencing or NGS) in samples from genetically isolated populations. Such populations have long been the focus of gene discovery efforts for complex traits because of the hypothesized reduction in the genetic complexity of the trait, and the enrichment of rare alleles. Prior genome-wide linkage efforts could detect large genomic regions potentially harboring rare alleles, while genome-wide association efforts could detect smaller areas with more common alleles. NGS allows the direct examination of both common and rare alleles and can be analyzed in both frameworks. Characterisics of isolated population may facilitate the blending of NGS with these prior approaches, by deep sequencing a small number of individuals to use as a reference panel for imputation within pedigrees or on the population level, by `filtering detected variants against pedigree relationships (or kinship estimates) in individuals with the trait. However, since the structure of the population must be taken into account, application of existing reference panels or methods for these analyses must be done carefully. The speakers for this session will discuss approaches to using NGS data for gene discovery for complex traits in isolated populations, reviewing methodologic approaches specific to such studies and illustrating their use in data sets drawn from such populations. 8:00 AM Using low-pass whole genome sequencing to create a reference population for genome imputation in an isolated population: Examples from the SardiNIA study. S. Sanna. Cittadella Univ. di Monserrato, Italy. 8:30 AM Fine-mapping linkage of age-related traits using whole-exome sequencing in a midwestern Amish population sample. W. K. Scott. Univ. of Miami. 9:00 AM The many-of-few: The power of genetic isolates for discovery and function of rare variants. J. R. O Connell. Univ. of Maryland Baltimore. 9:30 AM Studying rare variants in the Genetic Research in Isolated Populations program. C. van Duijn. Erasmus Med. Ctr. Rotterdam, Netherlands. SESSION 28 Transforming Medical Student Education in Genetics and Genomics: How Do We Improve Health and Individualize Care through Medical School Genetic and Genomic Curricula? Room 130, Lower Level North, Moscone Center Moderators: Joann N. Bodurtha, Johns Hopkins Univ.; Joan Scott, NCHPEG, Lutherville, MD This session will provide national perspectives on integrating genetics and genomics in medical student education. Controversies, ranging from the marketing of curriculum change to addressing personal genotyping, and lessons learned will be emphasized. Challenges in 4-year integration, evaluation, ethical issues and competing priorities will be included. Drs. Valle, Burke, and Potocki will describe 3 different models of curriculum development and delivery. Drs. Demmer and Salari will provide contrasting experiences in introducing personal genotyping by students into the curriculum. 8:00 AM Genes to Society 3 years of implementation. D. Valle. Johns Hopkins Univ. 8:30 AM The Vermont Integrated Curriculum: The UVM experience. L. Burke. Univ. of Vermont Col. of Med. 8:55 AM Effecting change: Building a genetics curriculum that supports the physicians of tomorrow. L. Potocki. Baylor Col. of Med. 9:20 AM Lessons learned from the introduction of personalized genotyping into a medical school curriculum. L. Demmer. Carolinas Medical Center. 9:40 AM Personal genotyping in a medical school curriculum on genomics and personalized medicine. K. Salari. Stanford Univ. Sch. of Med. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

88 86 INVITED AND PLATFORM SESSIONS Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) SESSION 29 Next-Generation Sequencing: Methods and Applications Hall D, Lower Level North, Moscone Center Moderators: John S. Witte, UCSF; Priya Duggal, Johns Hopkins Bloomberg Sch of Publ. Hlth. 88/10:30 The value of population-specific reference panels for genotype imputation in the age of whole-genome sequencing. C. Fuchsberger, B. Howie, M. Laakso, M. Boehnke, G. Abecasis on behalf of Genetics of Type-2 Diabetes Consortium. 89/10:45 Fast and accurate 1000 Genomes imputation using summary statistics or lowcoverage sequencing data. B. Pasaniuc, N. Zaitlen, G. Bhatia, A. Gusev, N. Patterson, A. L. Price. 90/11:00 Accurate haplotype estimation using phase informative sequencing reads. O. Delaneau, J.-F. Zagury, J. Marchini. 91/11:15 An LD-based method for genotype calling and phasing using low-coverage sequencing reads and a haplotype scaffold. A. Menelaou, J. Marchini. 92/11:30 Mixed functional linear model for sequence-based quantitative trait association studies unifying population and family study designs. M. Cao, Y. Zhu, M. Xiong. 93/11:45 Rare variant extensions of the transmission disequilibrium test detects associations with autism exome sequence data. Z. He, B. O Roak, J. Smith, G. Wang, M. Kan, S. Hooker, B. Li, N. Krumm, D. Nickerson, E. Eichler, S. Leal. 94/12:00 Methods for noninvasive prenatal determination of fetal genomes. M. W. Snyder, J. O. Kitzman, M. Ventura, A. P. Lewis, R. Qiu, L. E. Simmons, H. S. Gammill, C. E. Rubens, D. A. Santillan, M. K. Santillan, J. C. Murray, H. K. Tabor, M. J. Bamshad, E. E. Eichler, J. A. Shendure. 95/12:15 Associating complex traits with rare variants identified by NGS: Improving power by a position-dependent kernel approach. U. Bodenhofer, S. Hochreiter. 96/12:30 The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Demographic and behavioral influences on telomeres and relationship with all-cause mortality. C. Schaefer, S. Sciortino, M. Kvale, K. Lapham, J. Lin, D. Ranatunga, S. Rowell, M. Sadler, S. Miles, W. McGuire, D. Ludwig, L. Walter, I. Listerman, S. Van Den Eeden, R. Whitmer, C. Quesenberry, N. Risch, E. Blackburn. Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) SESSION 30 Genetics and Intellectual Disability Gateway Ballroom 103, Lower Level South, Moscone Center Moderators: Roger Reeves, Johns Hopkins Univ.; Heidi Rehm, Harvard Univ. 97/10:30 Diagnostic exome sequencing in patients with intellectual disability of unknown cause. J. de Ligt, M. H. Willemsen, B. W. M. van Bon, T. Kleefstra, H. G. Yntema, T. Kroes, A. T. Vulto-van Silfhout, D. A. Koolen, P. de Vries, C. Gilissen, A. Hoischen, H. Scheffer, B. B. A. de Vries, H. G. Brunner, J. A. Veltman, L. E. L. M. Vissers. 98/10:45 C-terminal deletions of the AUTS2 locus cause distinct syndromic features and cognitive impairment. E. Voorhoeve, G. Beunders, C. Golzio, L. Pardo, J. Rosenfeld, M. Talkowski, I. Simonic, A. Lionel, S. Vergult, R. Pyatt, J. van de Kamp, A. Nieuwint, M. Weiss, P. Rizzu, D. Posthuma, L. Verwer, H. Meijers-Heijboer, B. Menten, G. Mortier, S. Scherer, E. Eichler, S. Girirajan, N. Katsanis, A. Groffen, E. Sistermans. 99/11:00 Autism traits in the RASopathies. I. Corbin, G. Desachy, K. Rauen, L. Weiss. 100/11:15 Identification of novel recessive mutations in genes for intellectual disability. B. De Vries, J. H. M. Schuurs-Hoeijmakers, A. T. Vulto-van Silfhout, L. E. L. M. Vissers, J. de Ligt, C. Gilissen, I. van de Vondervoort, M. T. Greally, C. W. Ockeloen, M. H. Willemsen, E. M. Bongers, G. Hira, J. Y. Hehir- Kwa, R. Pfundt, T. Kleefstra, K. Neveling, S. Reinateo, A. Vitello, P. Failla, D. Greco, M. Fichera, O. Galesi, B. W. M. van Bon, J. A. Veltman, C. Romano, M. A. Willemsen, H. G. Brunner, H. van Bokhoven, A. P. M. de Brouwer. 101/11:30 Causal de novo SNVs, indels and CNVs in children with undiagnosed developmental disorders. M. Hurles, M. van Kogelenberg, K. Morley, T. Fitzgerald, S. Gerety, A. Tivey, S. Gribble, S. Al-Turki, S. Clayton, C. Wright, J. Barrett, H. Firth, D. FitzPatrick, N. Carter on behalf of DDD Project. 102/11:45 Making headway with the molecular and clinical definition of rare genetic disorders with intellectual disability. M. H. Willemsen, W. M. Wissink-Lindhout, L. E. M. Vissers, A. P. M. de Brouwer, J. H. M. Rensen, N. de Leeuw, R. Pfundt, H. G. Yntema, J. de Ligt, J. A. Veltman, H. G. Brunner, H. M. J. Lantman - de Valk, B. C. J. Hamel, H. van Bokhoven, T. Kleefstra. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

89 INVITED AND PLATFORM SESSIONS 87 Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) (SESSION 30, continued) Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) 103/12:00 MBD5 dosage affects multiple neurodevelopmental pathways in common with other genetic syndromes. S. V. Mullegama, J. A. Rosenfeld, C. Orellana, B. W. M. van Bon, E. A. Repnikova, L. Brick, L. Dupuis, D. J. Stavropoulos, D. L. Thrush, J. G. Foster, K. Manickam, A. Lin, J. C. Hodge, M. E. Talkowski, J. F. Gusella, S. Schwartz, S. Aradhya, R. E. Pyatt, B. B. A. de Vries, R. Mendoza- Londono, L. G. Shaffer, S. H. Elsea. 104/12:15 Exome sequencing in X-linked intellectual disability family assess the role of the KIAA2022 gene in the etiology of intellectual disability. M. Rio, S. Mouton, AC. Mazery, C. Bole- Feysot, P. Nitschke, N. Bahi-Buisson, A. Munnich, L. Colleaux. 105/12:30 Biallelic mutations of a ubiquitin-ligaseencoding gene cause an Ohdo-like intellectual disability syndrome. G. Borck, B. Dallapiccola, R. Ramirez-Solis, A. Segref, H. Thiele, A. Edwards, M. J. Arends, X. Miro, J. K. White, J. Desir, M. Abramowicz, M. L. Dentici, K. Hofmann, A. Har-Zahav, E. Ryder, N. A. Karp, N. J. Ingham, G. Nuernberg, S. Abdelhak, M. Pasmanik-Chor, O. Konen, R. I. Kelley, M. Shohat, P. Nuernberg, J. Flint, K. P. Steel, T. Hoppe, C. Kubisch, D. J. Adams, L. Basel-Vanagaite. SESSION 31 GWAS from Head to Toe Room 135, Lower Level North, Moscone Center Moderators: Erik Ingelsson, Karolinska Inst., Sweden; Nora Franceschini, Univ. of North Carolina at Chapel Hill 106/10:30 Androgenetic alopecia: Identification of four new genetic risk loci and evidence for the contribution of WNT-signaling to its etiology. S. Heilmann, A. K. Kiefer, N. Kluck, D. Drichel, A. M. Hillmer, C. Herold, J. Y. Tung, N. Eriksson, S. Redler, R. C. Betz, R. Li, H. Stefansson, D. R. Nyholt, K. Song, S. H. Vermeulen, S. Kanoni, G. Dedoussis, N. G. Martin, L. A. Kiemeney, V. Mooser, K. Stefansson, J. B. Richards, T. Becker, F. F. Brockschmidt, D. Hinds, M. M. Nöthen. 107/10:45 A polymorphism in human estrogenrelated receptor beta is associated with early indications of hearing loss from acoustic overload in young adult musicians. V. C. Henrich, S. L. Phillips, S. J. Richter, S. Teglas, R. Morehouse. 108/11:00 Dissection of polygenic variation for human height into individual variants, specific loci and biological pathways from a GWAS metaanalysis of 250,000 individuals. T. Esko, A. R. Wood, S. Vedantam, J. Yang, S. Gustaffsson, S. I. Berndt, J. Karjalainen, H. M. Kang, A. E. Locke, A. Scherag, D. C. Croteau-Chonka, F. Day, R. Magi, T. Ferreira, J. Randall, T. W. Winkler, T. Fall, Z. Kutalik, T. Workalemahu, G. Abecasis, M. E. Goddard, L. Franke, R. J. F. Loos, M. N. Weedon, E. Ingelsson, P. M. Visscher, J. N. Hirschhorn, T. M. Frayling, GIANT Consortium. 109/11:15 Genome-wide association studies metaanalysis for fracture risk points to loci related to hormonal and neurological pathways: The GEFOS Consortium. L. Oei, H. F. Zheng, E. E. Ntzani, C. M. Nielson, U. Styrkarsdottir, P. M. Ridker, K. K. Tsilidis, K. Estrada, A. Enneman, A. Vernon-Smith, R. D. Jackson, S. Trompet, T. Lehtimäki, S. Kaptoge, T. B. Harris, J. Eriksson, N. Amin, A. Metspalu, P. C. Sham, E. Evangelou, J. P. A. Ioannidis, G. Thorleifsson, A. G. Uitterlinden, S. A. Cummings, T. Spector, D. P. Kiel, D. Chasman, E. Orwoll, J. B. Richards, F. Rivadeneira, GEFOS Consortium. 110/11:30 Genetic landscape of the red blood cell. J. C. Chambers, P. van der Harst, W. Zhang, I. Mateo Leach, J. Sehmi, N. Verweij, D. S. Paul, A. Rendon, U. Elling, H. Allayee, A. Radhakrishnan, J. S. Beckmann, G. V. Dedoussis, P. Deloukas, A. A. Hicks, S. Sanna, M. Uda, J. Penninger, C. Gieger, J. S. Kooner, W. Ouwehand, N. Soranzo, HaemGen RBC Consortium. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

90 88 INVITED AND PLATFORM SESSIONS Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) (SESSION 31, continued) 111/11:45 Discovery and fine-mapping of serum protein loci through trans-ethnic meta-analysis. A. P. Morris, Y. Okada, F. J. A. van Rooij, B. P. Prins, M. F. Feitosa, M. Karakas, J. Felix, B. Z. Alizadeh, L. A. Cupples, J. R. B. Perry, N. Franceschini, CHARGE Consortium Protein Working Group. 112/12:00 The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: A genome-wide association study of telomere length in a multi-ethnic cohort of 100,000 subjects. M. Kvale, K. Lapham, T. Hoffmann, S. Sciortino, L. Walter, Y. Banda, I. Listerman, J. Lin, S. Hesselson, P. Kwok, E. Blackburn, C. Schaefer, N. Risch. 113/12:15 Heritability of the variation in aging in two longitudinal family cohort studies: SardiNIA/ Progenia Study and Framingham Heart Study. J. Bragg-Gresham, S. Sanna, C. Sidore, A. Mulas, F. Busonero, A. Maschio, M. Urru, F. Reinier, R. Berutti, M. Marcelli, R. Cusano, M. Oppo, D. Pitzalis, M. Zoledziewska, A. Angius, C. Jones, A. Cao, M. Uda, S. Kardia, D. Schlessinger, F. Cucca, G. Abecasis. 114/12:30 Over 250 novel associations with human morphological traits. N. Eriksson, C. B. Do, J. Y. Tung, A. K. Kiefer, D. A. Hinds, J. L. Mountain, U. Francke. Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) SESSION 32 Cardiovascular Genetics: GWAS and Beyond Room 134, Lower Level North, Moscone Center Moderators: Cristen J. Willer, Univ. of Michigan; Panagiotis Deloukas, Wellcome Trust Sanger Inst., U.K. 115/10:30 Coronary artery disease loci identified in over 190,000 individuals implicate lipid metabolism and inflammation as key causal pathways: Evidence for independent signals in many of the risk loci. S. Kanoni, C. Willenborg, M. Farrall, T. L. Assimes, J. R. Thompson, E. Ingelsson, D. Saleheen, J. Erdmann, M. P. Reilly, R. Collins, S. Kathiresan, A. Hamsten, U. Thorsteinsdottir, J. S. Kooner, J. Danesh, C. N. A. Palmer, R. Roberts, H. Watkins, H. Schunkert, N. J. Samani, P. Deloukas for CARDIoGRAMplusC4D Consortium. 116/10:45 Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. D. Gu, X. Lu, L. Wang, S. Chen, J. Huang, H. Li, X. Yang, Y. Hao, China Atherosclerosis Genetics Consortium. 117/11:00 Discovery of 63 novel loci and refinement of known loci associated with lipid levels. C. Willer, G. R. Abecasis, M. Boehnke, L. A. Cupples, P. Deloukas, P. W. Franks, S. Gustafsson, E. Ingelsson, S. Kathiresan, K. L. Mohlke, G. M. Peloso, S. S. Rich, S. Ripatti, M. Sandhu, E. M. Schmidt, S. Sengupta, Global Lipids Genetics Consortium. 118/11:15 The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Genome-wide association study of plasma HDL and LDL and treatment response in over 100,000 subjects. T. J. Hoffmann, M. N. Kvale, Y. Banda, S. E. Hesselson, L. Walter, S. Sciortino, D. K. Ranatunga, D. Ludwig, C. Iribarren, R. Grant, P. Kwok, C. Schaefer, N. Risch. 119/11:30 Genome-wide screen with 1000 Genomes imputed data identifies 19 new lipid loci and new variants with stronger effects in previously known loci. I. Surakka, A.-P. Sarin, R. Mägi, M. Horikoshi, S. Wiltshire, T. Esko, T. Ferreira, L. Marullo, G. Thorleifsson, A. Mahajan, S. Hägg, A. Isaacs, M. Beekman, J. S. Ried, T. W. Winkler, C. P. Nelson, C. Willenborg, A. Morris, M. I. McCarthy, I. Prokopenko, S. Ripatti for ENGAGE Consortium. 120/11:45 Rare coding variation and risk for myocardial infarction: an exome chip study of ~6,000 cases and controls. R. Do on behalf of NHLBI Exome Sequencing Project - Early Onset Myocardial Infarction. 121/12:00 High exome mutational burden in 58 African Americans with persistent extreme blood pressure. K.-D. H. Nguyen, A. C. Morrison, A. Li, R. Gibbs, E. Boerwinkle, A. Chakravarti. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

91 INVITED AND PLATFORM SESSIONS 89 Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) (SESSION 32, continued) Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) 122/12:15 Chipping a hole-in-one from the FAIRE way: Use of post-gwas fine-mapping genotyping arrays for functional variant discovery. A. J. P. Smith, F. Drenos, P. Howard, C. Giambartolomei, P. J. Talmud, V. Plagnol, S. E. Humphries. 123/12:30 Strong association of one carbon metabolism genes with stroke and change in postmethionine load homocysteine levels in the Framingham Heart and Vitamin Intervention for Stroke Prevention studies. S. R. Williams, Q. Yang, F. Chen, X. Liu, K. Keen, P. Jacques, W. M. Chen, G. Weinstein, F. C. Hsu, A. Beiser, L. Wang, K. F. Doheny, P. A. Wolf, M. Zilka, J. Selhub, B. B. Worrall, S. Seshadri, M. M. Sale, Genomics and Randomized Trials Network (GARNET). SESSION 33 Clinical Genetics: Mutations, Mutations and Syndromes Gateway Ballroom 104, Lower Level South, Moscone Center Moderators: Nathaniel Robin, Univ. of Alabama at Birmingham; Anne Slavotinek, UCSF 124/10:30 Baraitser-Winter syndrome: Delineation of the phenotypic spectrum in a large series of molecularly defined patients. A. Verloes, O. A. Abdul-Rahman, J. Allanson, J. F. Atkin, M. Baraitser, H. Brunner, N. Chassaing, K. Devriendt, V. Drouin, A. Fry, J. P. Fryns, F. Giuliano, K. W. Gripp, D. Lacombe, A. Lin, G. Mancini, M. Marble, M. Nezarati, M. Nowaczyk, S. Osimani, M. Rossi, C. Rusu, Y. Sznajer, C. Van Ravenswaaij, J. Masliah, J. B. Rivière, B. W. M. van Bon, A. Hoischen, W. Dobyns, D. Pilz. 125/10:45 Three novel mutations in MED12 cause Ohdo syndrome Maat-Kievit-Brunner type. A. T. Vulto-van Silfhout, A. Hoischen, B. W. M. van Bon, W. M. Nillesen, C. Gilissen, F. Gao, J. M. Spaeth, B. C. Hamel, T. Kleefstra, M. A. A. P. Willemsen, H. van Bokhoven, H. G. Yntema, B. B. A. de Vries, H. G. Brunner, T. G. Boyer, A. P. M. de Brouwer. 126/11:00 Heterogeneity of mutational mechanisms and modes of inheritance in auriculo-condylar syndrome. C. Gordon, A. Vuillot, A. Omarjee, S. Park, J. Horst, R. McGowan, E. Tobias, S. García-Miñaúr, M. Bitner, L. Jakobsen, P. Kroisel, A. Stewart, R. Palmer, A. Munnich, M. Holder, A. Lin, A. Henderson, L. Basel- Vanagaite, E. Gerkes, L. Wilson, M. Cunningham, S. Marlin, S. Lyonnet, J. Amiel. 127/11:15 Genetic heterogeneity of Myhre syndrome. C. Le Goff, C. Michot, C. Mahaut, A. Abhyankar, W. Le Goff, V. Serre, A. Afenjar, A. Brooks, N. Brunetti-Pierri, P. Campeau, A. Destrée, M. di Rocco, D. Donnai, R. Hennekam, D. Heron, S. Jacquemont, S. Mansour, S. Marlin, R. McGowan, H. Murphy, M. Simon, I. Stolte- Dijkstra, J. Tolmie, R. Touraine, N. Van der Aa, T. Van Essen, A. Verloes, J. L. Casanova, A. Munnich, V. Cormier-Daire. 128/11:30 Seven novel families with ADCL favor clinical and molecular homogeneity. C. Bodemer, B. Callewaert, M. Kempers, E. Bourrat, M. Renard, O. Vanakker, F. Malfait, J. De Backer, P. J. Coucke, S. Hadj-Rabia, A. De Paepe. 129/11:45 Comprehensive clinical and molecular analysis of 12 families with type I recessive cutis laxa. B. Callewaert, C.-T. Su, T. Van Damme, P. Vlummens, F. Malfait, O. Vanakker, B. Schulz, M. Mac Neal, E. C. Davis, J. G. H. Lee, A. Salhi, S. Unger, K. Heimdal, S. De Almeida, U. Kornak, H. Gaspard, J. L. Bresson, K. Prescott, M. E. Gosendi, S. Mansour, G. E. Pierard, S. Madan-Khetarpal, F. C. Sciurba, S. Symoens, P. J. Coucke, L. Van Maldergem, Z. Urban, A. De Paepe. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

92 90 INVITED AND PLATFORM SESSIONS Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) (SESSION 33, continued) 130/12:00 M694V mutation in Armenian-Americans: A ten-year retrospective study of MEFV mutations testing for familial Mediterranean fever at UCLA. F. S. Ong, H. Vakil, Y. Xue, K. H. Shah, J. Z. Kuo, K. E. Bernstein, D. L. Rimoin, J. I. Rotter, J. L. Deignan, K. Das, W. W. Grody. 131/12:15 Clinical features of individuals with Floating-Harbor syndrome due to mutations in SRCAP. S. M. Nikkel, A. Dauber, R. L. Hood, M. Feingold, M. Connolly, M. J. M. Nowaczyk, S. M. White, A. Afenjar, F. Brancati, I. Cordeiro, A. Destrée, F. Forzano, E. M. Honey, D. Héron, C. M. Jacob, S. G. Kant, U. Kini, E. Kirk, E. Lemos Silveira-Lucas, L. Silveira Lucas, L. Audi Delaney, B. Santos da Cunha, V. Mericq, K. Pope, S. Price, J. M. Wit, D. E. Bulman, K. M. Boycott, FORGE Canada Consortium. 132/12:30 A prospective natural history study of DICER1-related familial pleuropulmonary blastoma syndrome shows incomplete penetrance, pleiotropy and variable expressivity. D. R. Stewart, L. Doros, G. Glenn, A. Bauer, G. Williams, A. Carr, J. Ivanovich, R. Kase, L. Harney, K. A. Schultz, C. P. Kratz, L. P. Dehner, D. A. Hill, Y. Messinger. Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) SESSION 34 Cancer Genetics II: Clinical Translation Room 124, Lower Level North, Moscone Center Moderators: Robert Pilarski, The Ohio State Univ.; Stephen Thibodeau, Mayo Clin. 133/10:30 Clinical implementation of a cancer care model based on comprehensive molecular profiling of tumor-normal pairs. J. C. Taylor, K. Kaur, S. Henderson, E. Domingo, A. Cutts, J. Woods, C. Motley, B. Dougherty, M. Middleton, B. Hassan, Y. Wang, E. Beasley, M. Naley, I. Tomlinson, A. Schuh, TSB LifeTech Consortium. 134/10:45 Clinical implementation of single nucleotide polymorphism microarrays in pediatric cancer and non-malignant hematologic disorders. X. Lu, Y. Zhao, S. Gurusiddappa, C. Lau, J. Shohet, P. Rao, K. Rabin, S. E. Plon. 135/11:00 A prospective clinical trial to evaluate DNA sequencing as a diagnostic tool to guide cancer therapy. A. M. K. Brown, P. L. Bedard, B. Tran, J. Dancey, E. Winquist, S. J. Hotte, G. Goss, S. Welch, T. Zhang, L. Stein, V. Ferretti, S. Watt, W. Jiao, K. Ng, P. Shaw, B. G. Neel, T. J. Hudson, J. D. McPherson, S. Kamel-Reid, L. Siu. 136/11:15 Whole genome sequencing of a highly aggressive melanoma identified BRAFL597 mutants associated with sensitivity to MEK inhibitors. Z. Zhao, K. B. Dahlman, J. Xia, H. Hutchinson, C. Ng, D. Hucks, P. Jia, M. Atefi, Z. Su, S. Branch, P. Lyle, D. J. Hicks, V. Bozon, J. A. Glaspy, J. L. Netterville, C. L. Vnencak-Jones, J. Sosman, A. Ribas, W. Pao. 137/11:30 Identification of novel mechanisms of drug resistance in BRCA1-deficient cancer by exome and RNA sequencing. K. K. Dhillon, T. Taniguchi. 138/11:45 BRCA1 and BRCA2 mutational spectrum in a normal population: Implications for clinical diagnostics and incidental findings. E. Ruark, K. W. Lau, A. Renwick, E. Ramsay, F. Zhang, S. Seal, N. Rahman. 139/12:00 Targeted re-sequencing of 10 ovarian cancer candidate genes in 2,240 cases and 355 controls. H. Song, M. Cieck, J. Cunningham, B. Fridley, E. Dicks, P. Harrington, S. Ramus, S. Gayther, E. Goode, P. Pharoah. 140/12:15 Enhanced detection of low-level mosaic mutations in RB1 gene in sporadic unilateral RB by ion torrent semiconductor sequencing: Risk of second cancer. Z. Chen, S. Walther, K. Moran, D. Gerhart, T. Ganguly, A. Ganguly. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

93 INVITED AND PLATFORM SESSIONS 91 Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) (SESSION 34, continued) Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) 141/12:30 Risk of colorectal cancer for monoallelic and biallelic MUTYH mutation carriers. A. K. Win, S. P. Cleary, J. G. Dowty, D. D. Buchanan, J. P. Young, N. M. Lindor, R. W. Haile, P. A. Newcomb, L. Marchand, J. L. Hopper, S. Gallinger, M. A. Jenkins, Colon Cancer Family Registry. SESSION 35 Ethical, Legal, Social and Policy Issues Room 132, Lower Level North, Moscone Center Moderators: Maureen Smith, Northwestern Univ.; Neil Lamb, HudsonAlpha Inst. for Biotechnol., Huntsville, AL 142/10:30 Newborn screening for cystic fibrosis: Preliminary results on the false positive experience. C. J. Barg, F. A. Miller, R. Z. Hayeems, P. Durie, J. C. Carroll, P. Chakraborty, B. K. Potter, Y. Bombard, K. Tam, L. Taylor, E. Kerr, C. Davies, J. Milburn, F. Ratjen, A. Guttmann. 143/10:45 Conflicting views on newborn and infant genetic screening: Perspectives of relatives of children with genetic conditions causing developmental delay and parents of healthy children. S. A. Metcalfe, A. D. Archibald, A. L. Atkinson, C. Hickerton, S. Lawton, B. J. McClaren, S. H. Wong. 144/11:00 Do research participants really want to know? The Seattle Colorectal Cancer Family Registry experience on the return of research genetic test results. M. Laurino, D. Fisher, W. Grady, P. Newcomb. 145/11:15 The student-athletes knowledge of sickle cell trait and the impact of mandatory genetic testing. N. Lovick, L. Mar, M. Treadwell, J. Youngblom, C. Hartshorne. 146/11:30 Impact of direct-to-consumer pharmacogenomic testing. C. S. Bloss, N. J. Schork, E. J. Topol. 147/11:45 Impact of genomic risk for type 2 diabetes on health behaviors. S. B. Haga, W. Barry, R. Mills, J. Sullivan, H. F. Willard, L. P. Svetkey, G. S. Ginsburg. 148/12:00 African American attitudes toward exome and whole genome sequencing. J. Yu, J. Crouch, S. M. Jamal, H. K. Tabor, M. J. Bamshad. 149/12:15 Personalized health literacy in the age of personalized medicine: Results from a deliberative public engagement exercise. B. J. Wilson, J. C. Carroll, S. G. Nicholls, S. M. Craigie, H. Etchegary, D. Castle, B. K. Potter, J. Little, L. Lemyre on behalf of Emerging Team in Genomics in Screening. 150/12:30 Dynamics, definitions and discrepancies: Public perspectives on the systematic collection and use of family health history in routine health care. H. Etchegary, B. J. Wilson, S. M. Craigie, S. G. Nicholls, D. Castle, J. C. Carroll, J. Allanson, B. K. Potter, P. Chakraborty on behalf of CIHR Emerging Team in Genomics in Screening. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

94 92 INVITED AND PLATFORM SESSIONS Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) SESSION 36 Chipping Away at Autoimmune Disease Room 130, Lower Level North, Moscone Center Moderators: Judy H. Cho, Yale Univ.; Soumya Raychaudhuri, Brigham and Women s Hosp. 151/10:30 Immunochip: Redefining the genetic architecture of multiple sclerosis. J. McCauley, International Multiple Sclerosis Genetics Consortium. 152/10:45 Dense genotyping of candidate genes indentifies 16 new susceptibility loci in ankylosing spondylitis. A. Cortes, P. C. Robinson, P. Leo, D. M. David, M. A. Brown, International Genetics of Ankylosing Spondylitis and Wellcome Trust Case Control Consortia. 153/11:00 Dense fine-mapping study identifies novel disease loci and implicates coding and non-coding variation in primary biliary cirrhosis risk. J. Z. Liu, M. A. Almarri, D. J. Gaffney, G. F. Mells, L. Jostins, H. J. Cordell, S. Ducker, D. Day, M. A. Heneghan, J. M. Neuberger, P. T. Donaldson, A. Bathgate, A. Burroughs, M. Davies, D. E. Jones, G. J. Alexander, J. C. Barrett, R. N. Sandford, C. A. Anderson, UK PBC Consortium and Wellcome Trust Case Control Consortium /11:15 Fifteen novel psoriasis susceptibility loci: Disease-specific signals highlight the role of innate immunity. L. C. Tsoi, S. L. Spain, J. Knight, E. Ellinghaus, P. E. Stuart, F. Capon, J. Ding, Y. Li, T. Tejasvi, J. E. Gudjonsson, H. M. Kang, A. M. Bowcock, U. Mrowietz, S. Koks, T. Esko, J. J. Voorhees, M. Weichenthal, P. Rahman, D. Gladman, C. E. M. Griffiths, A. Reis, J. Kere, R. P. Nair, A. Franke, J. N. W. N. Barker, G. R. Abecasis, J. T. Elder, R. C. Trembath, Genetic Analysis of Psoriasis Consortium, Wellcome Trust Case Control Consortium /11:30 MHC fine-mapping in celiac disease reveals structural basis of HLA-gluten interaction. J. Gutierrez-Achury, G. Trynka, K. A. Hunt, J. Romanos, D. van Heel, C. Wijmenga, P. I. W. de Bakker. 156/11:45 Host-microbe interactions shape genetic risk for inflammatory bowel disease. J. Barrett, International IBD Genetics Consortium. 157/12:00 Sequencing-based and multiplatform genome-wide association study for multiple sclerosis and type 1 diabetes in Sardinians. I. Zara, E. Porcu, M. Zoledziewska, M. Pitzalis, M. Valentini, A. Mulas, F. Busonero, R. Atzeni, M. Oppo, F. Reinier, R. Berutti, R. Pilu, F. Deidda, C. Sidore, R. Piras, A. Loi, S. Sanna, E. Cocco, F. Poddie, G. Farina, G. Rosati, L. Lianas, G. Cuccuru, G. Zanetti, A. Angius, M. G. Marrosu, C. M. Jones, G. R. Abecasis, S. Sanna, F. Cucca. 158/12:15 Admixture mapping for asthma in Latinos identifies additional heritable risk factors from genome-wide meta-analysis data. C. R. Gignoux, D. G. Torgerson, J. M. Galanter, L. A. Roth, C. Eng, D. Hu, S. Huntsman, R. D. Hernandez, R. A. Mathias, S. Sen, K. C. Barnes, E. G. Burchard. 159/12:30 Deep exome sequencing of psoriasis identified new association signals contribute by INDELs, CNVs and rare SNPs. X. Jin, H. Tang, H. Jiang, D. Cao, H. Shao, Q. Li, J. Shen, L. Song, Y. Shi, J. Mei, X. Yang, L. Coin, Y. Li, X. Zhang, J. Wang. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

95 INVITED AND PLATFORM SESSIONS 93 Thursday, November 8 10:30 AM 12:45 PM Concurrent Platform (abstract-driven) Session B (29-37) SESSION 37 Metabolic Disease Discoveries Room 123, Lower Level North, Moscone Center Moderators: Kimberly Chapman, Children s Natl. Med. Ctr.; Hans Andersson, Tulane Univ. Med. Ctr. 160/10:30 Mutations in DDHD2 cause recessive spastic paraplegia with intellectual disability, thin corpus callosum and periventricular white matter hyperintensities. A. P. M. de Brouwer, J. H. M. Schuurs-Hoeijmakers, E. J. Kamsteeg, S. Ben-Salem, S. T. de Bot, I. van de Vondervoort, S. Vermeer, J. Schwartzentruber, B. R. Ali, S. A. Al-Yahyaee, S. Tariq, T. Pramathan, R. Bayoumi, B. P. van de Warrenburg, W. M. van den Akker, C. Gilissen, J. A. Veltman, I. M. Janssen, A. T. Vulto-van Silfhout, S. van der Velde- Visser, A. Diekstra, C. E. Erasmus, M. A. Willemsen, L. E. L. M. Vissers, H. van Bokhoven, R. A. Wevers, L. Al-Gazali, M. T. Geraghty, B. B. A. de Vries. 161/10:45 Lipidomics of Gaucher disease: Substrate composition and nature is dependent on tissue/region and acid -glucosidase mutations: Phenotypic implications. Y. Sun, W. Zhang, Y. Xu, B. Quinn, N. Dasgupta, B. Liou, K. D. R. Setchell, G. A. Grabowski. 162/11:00 Sterol precursors induce Niemann-Pick C disease phenotypes in Smith-Lemli-Opitz syndrome causing defective LDL-cholesterol utilization that is corrected by imino-sugars. C. A. Wassif, E. Lloyd- Evans, L. J. Haslett, I. M. Williams, C. L. Toth, F. D. Porter, F. M. Platt. 163/11:15 Glucose kinetics in subjects with MELAS syndrome: Interim results. L. Emrick, A. El-Hattab, J. Hsu, F. Jarhoor, F. Scaglia, W. Craigen. 164/11:30 Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency. R. Ferriero, E. Lamantea, P. W. Stacpoole, L. Bonafè, B. Lee, M. Zeviani, N. Brunetti-Pierri. 165/11:45 Etiologies for neurocognitive delays in argininosuccinic aciduria. A. Erez, S. Nagamani, P. Campeau, O. Shchelochkov, J. Kho, K. Bissig, Q. Sun, N. Bryan, S. Cederbaum, B. Lee. 166/12:00 Enzyme substitution therapy for phenylketonuria delivered orally using a genetically modified probiotic: Proof of principle. J. Christodoulou, N. Al-Hafid, X.-Z. Tong, K. Carpenter, V. Wiley, S. Cunningham, I. E. Alexander. 167/12:15 A new inborn error of manganese metabolism caused by mutations in SLC30A10, a newly identified human manganese transporter. K. Tuschl, P. T. Clayton, S. M. Gospe, Jr., S. Gulab, S. Ibrahim, P. Singhi, R. T. Ribeiro, M. S. Zaki, M. Luz del Rosario, S. Dyack, V. Price, R. A. Wevers, P. B. Mills. 168/12:30 Combined methylmalonic acidemia and homocystinuria, cblc type: A prospective clinical protocol focusing on neurologic and neurodevelopmental parameters in a cohort of preschool children diagnosed on expanded newborn screening. J. D. Weisfeld-Adams, H. A. Bender, A. M. Akerstedt, E. Miles-Mason, T. P. Naidich, S. Lipson, T. Bottiglieri, S. P. Young, G. A. Diaz. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

96 94 INVITED AND PLATFORM SESSIONS Thursday, November 8 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session C (38-46) SESSION 38 A Sequencing Jamboree: Exomes to Genomes Hall D, Lower Level North, Moscone Center Moderators: Nancy Cox, Univ. of Chicago; Orli Bahcall, Nature Genetics 169/4:30 Whole-exome sequencing of 10,000 type 2 diabetes cases and controls from five major ancestry groups. T. M. Teslovich, A. P. Morris, P. Fontanillas, M. A. Rivas, X. Sim, J. Flannick, N. Burtt, H. Chen, A. G. Day-Williams, A. Mahajan, G. Atzmon, P. Cingolani, L. Moutsianas, H. M. Highland, T2D- GENES Consortium. 170/4:45 Rare and low frequency coding variants are associated with LDL cholesterol levels: Findings from the NHLBI Exome Sequencing Project. L. A. Lange, Y. Hu, C. Xue, Z. Tang, C. Bizon, E. M. Lange, J. D. Smith, E. H. Turner, G. Jun, H.-M. Kang, K. P. Li, G. M. Peloso, C. L. Wassel, A. P. Reiner, E. Boerwinkle, B. M. Psaty, C. J. O Donnell, S. Kathiresan, K. E. North, D. Lin, G. P. Jarvik, L. A. Cupples, C. Kooperberg, J. G. Wilson, D. A. Nickerson, G. R. Abecasis, S. S. Rich, R. P. Tracy, C. J. Willer on behalf of NHLBI Exome Sequencing Project. 171/5:00 Exome sequencing of extreme phenotypes identifies DCTN4 and CAV2 as modifiers of chronic Pseudomonas aeruginosai nfection in cystic fibrosis. M. J. Emond, T. Louie, J. Emerson, S. McNamara, W. Zhao, R. A. Mathias, M. R. Knowles, F. A. Wright, M. J. Reider, H. K. Tabor, D. A. Nickerson, K. C. Barnes, R. L. Gibson, M. J. Bamshad. 172/5:15 A high resolution study of type 2 diabetes genetic architecture through whole-genome sequencing of 2850 European individuals: The GoT2D Study. J. Flannick, C. Fuchsberger, K. J. Gaulton, N. P. Burtt, H. M. Kang, C. Hartl, R. D. Pearson, GoT2D Consortium. 173/5:30 Mapping quantitative traits with integrated whole exome/genome/array panel in individuals of European descent. X. Sim, M. A. Rivas, A. K. Manning, A. E. Locke, C. M. Lindgren, GoT2D Consortium. 174/5:45 Whole genome sequence analyses describe the genetic architecture of complex traits: The Cohorts for Heart and Aging Research in Genetic Epidemiology Consortium. A. C. Morrison, A. Voorman, A. D. Johnson, X. Liu, J. Yu, A. Li, D. Muzny, F. Yu, K. Rice, G. Zhu, G. Heiss, C. J. O Donnell, B. Psaty, L. A. Cupples, R. Gibbs, E. Boerwinkle. 175/6:00 Genome sequencing and analysis in autism spectrum disorder. S. Walker, A. Prasad, L. Lau, B. Thiruvahindrapuram, B. Fernandez, R. Yuen, C. R. Marshall, E. Fombonne, W. Roberts, L. Zwaigenbaum, P. Szatmari, S. W. Scherer. 176/6:15 Deep whole genome sequencing in pedigrees illuminates the contribution of low frequency and private mutations to the genetic architecture of metabolic quantitative traits. A. K. Manning, A. R. Wood, P. Fontanillas, G. Jun, P. Cingolani, M. Almeida, C. Fuchsberger, T. D. Dyer, M. Rivas, K. Gaulton, J. Maller, J. Curran, J. Grunstad, T. W. Blackwell, T. M. Teslovich, D. M. Lehman, R. Grossman, J. Laramie, S. E. Lincoln, M. Boehnke, M. I. McCarthy, T. M. Frayling, R. Sladek, R. Duggirala, J. Blangero, G. Abecasis, D. Altshuler, T2D-GENES. 177/6:30 Whole genome sequencing of 2,100 individuals in the founder Sardinian population. C. Sidore, S. Sanna, A. Kwong, H. M. Kang, R. Cusano, M. Pitzalis, M. Zoledziewska, A. Maschio, F. Busonero, M. Lobina, A. Angius, R. Lyons, B. Terrier, C. Brennan, R. Atzeni, A. Mulas, M. Dei, M. G. Piras, S. Lai, F. Reinier, R. Berutti, C. Jones, M. Marcelli, M. Urru, M. Oppo, D. Schlessinger, G. Abecasis, F. Cucca. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

97 INVITED AND PLATFORM SESSIONS 95 Thursday, November 8 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session C (38-46) Thursday, November 8 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session C (38-46) SESSION 39 Admixture and Demography Gateway Ballroom 103, Lower Level South, Moscone Center Moderators: Katarzyna Bryc, Harvard Univ.; John Novembre, UCLA 178/4:30 Differential relatedness of African Americans to populations within West Africa. K. Bryc, A. Williams, N. Patterson, S. Musani, M. Sale, W. Chen, J. Divers, M. Ng, D. W. Bowden, J. G. Wilson, D. Reich. 179/4:45 Fine scale population genetic structure of African Americans. E. Y. Durand, M. Macpherson, B. T. Naughton, J. Mountain, C. B. Do. 180/5:00 A model-based approach for analysis of spatial structure in genetic data. W. Yang, J. Novembre, E. Eskin, E. Halperin. 181/5:15 People of the British Isles: An analysis of the genetic contributions of European populations to a UK control population. S. Leslie, B. Winney, G. Hellenthal, S. Myers, P. Donnelly, W. Bodmer. 182/5:30 The applicability of the Balding-Nichols model to a dataset of over 100,000 Brazilian individuals. R. V. Rohlfs, A. Bhaskar, V. R. C. Aguiar, K. Lohmueller, A. M. Castro, A. C. S. Ferreira, F. S. V. Malta, Y. Song, I. D. Louro, R. Nielsen. 183/5:45 Rare genetic variants in deep sequencing of neutral regions from a homogeneous population refine models of recent explosive human population growth. A. Keinan, E. Gazave, A. Coventry, S. Gottipati, D. Chang, L. Ma, D. Muzny, E. Boerwinkle, C. Sing, R. Gibbs, A. Clark. 184/6:00 Estimating human population sizes using the coalescent with recombination. S. Sheehan, K. Harris, Y. S. Song. 185/6:15 Reconstructing historical contributions to modern gene pools using the sequentially Markovian coalescent conditional sampling distribution. A. Platt, J. Novembre. 186/6:30 On the Sardinian ancestry of the Tyrolean Iceman. M. Sikora, M. Carpenter, A. Moreno-Estrada, B. M. Henn, P. A. Underhill, I. Zara, M. Pitzalis, C. Sidore, F. Reinier, M. Marcelli, A. Angius, C. Jones, T. T. Harkins, A. Keller, A. Zink, G. Abecasis, S. Sanna, F. Cucca, C. D. Bustamante. SESSION 40 Analysis of Multilocus Systems Room 135, Lower Level North, Moscone Center Moderators: Brendan Keating, Univ. of Pennsylvania; Laura Almasy, Texas Biomed. Res. Inst., San Antonio 187/4:30 Gene-based epistasis analysis in genomewide association studies. L. Ma, A. Brautbar, E. Boerwinkle, C. F. Sing, A. G. Clark, A. Keinan. 188/4:45 Building human phenotype networks from shared genetic risk variants. C. Darabos, K. Desai, M. Giacobini, M. Lupien, J. H. Moore. 189/5:00 Incorporating network dynamics to prioritize genes through genome-wide association studies. L. Hou, M. Chen, C. K. Zhang, J. Cho, H. Zhao. 190/5:15 Large-scale multi-phenotype metaanalysis evaluates pleiotropic effects at FADS1 and GIPR loci. V. Lagou, R. Mägi, K. Fischer, M. Akerlund, I. Surakka, M. Kaakinen, J. S. Ried, A. Mahajan, M. Horikoshi, L. Marullo, K. Strauch, C. Gieger, S. Ripatti, A. P. Morris, V. Lyssenko, I. Prokopenko for ENGAGE (European Network for Genetic and Genomic Epidemiology) Consortium. 191/5:30 Building and assessing protein-protein interaction networks from genome-wide association results in cancer. L. T. Hiraki, A. D. Joshi, S. Lindstrom, A. T. Chan, S. Chanock, P. Kraft. 192/5:45 A smoothed functional principal component analysis for pathway analysis with next-generation sequencing data. J. Zhao, Y. Zhu, E. Boerwinkle, M. Xiong. 193/6:00 Variants in exons and in transcription factors affect gene expression in trans. A. Kreimer, I. Pe er. 194/6:15 The continuation of theory by other means: ForSim as a forward simulator for improved understanding of the genetic architecture of complex traits and its evolution. K. M. Weiss, J. H. Lee, J. D. Terwilliger, B. W. Lambert. 195/6:30 Incorporating phylogenetic conservation and pedigree information in tests of rare-variant association. H. Hu, C. D. Huff, H. Coon, S. Guthery, S. V. Tavtigian, J. C. Roach, Z. Kronenberg, J. Xing, A. F. A. Smit, G. Glusman, A. K. Holloway, V. Garg, B. Moore, R. Hubley, W. S. Watkins, H. Li, S. Z. Montsaroff, D. E. Abbott, L. E. Hood, K. S. Pollard, D. J. Galas, D. Srivastava, M. G. Reese, L. B. Jorde, M. Yandell. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

98 96 INVITED AND PLATFORM SESSIONS Thursday, November 8 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session C (38-46) SESSION 41 Genes Underlying Neurological Disease Room 134, Lower Level North, Moscone Center Moderators: Stylianos Antonarakis, Univ. of Geneva Med. Sch.; Laurie Ozelius, Mount Sinai Med. Sch. 196/4:30 TMTC4: A novel candidate gene for callosal development. L. Fernandez, J. Li, M. Wakahiro, E. Rider, T. Bartman, E. Sherr. 197/4:45 CLK2 missense mutation in a family with pontocerebellar hypoplasia type 7. V. R. C. Eggens, Y. Namavar, M. A. Haagmans, K. Fluiter, E. J. Bradley, P. G. Barth, B. T. Poll-The, F. Baas. 198/5:00 Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. J. Warman Chardon, L. Huang, M. Carter, K. Friend, T. Dudding, J. Schwartzentruber, R. Zou, P. Schofield, S. Douglas, D. Bulman, K. Boycott. 199/5:15 VPS37A causes a novel form of complex hereditary spastic paraparesis. T. Falik-Zaccai, Y. Zivony-Elboum, W. Westbroek, D. Savitzki, Y. Shoval, Y. Anikster, A. Waters, R. Kleta. 200/5:30 Genome-wide association study identifies two novel susceptibility loci for musician s dystonia. K. Lohmann, A. Schmidt, A. Schillert, S. Winkler, K. Siegesmund, H.-C. Jabusch, M. Kasten, J. L. Groen, C. Hemmelmann, J. Hagenah, J. Graf, N. Brüggemann, A. Grünewald, F. Baas, A. Münchau, K. E. Zeuner, S. Schreiber, G. Deuschl, M. A. J. de Koning-Tijssen, E. Altenmüller, A. Ziegler, C. Klein. 201/5:45 Autosomal recessive axonal neuropathy with neuromyotonia: A novel disease entity caused by mutations in HINT1. J. Baets, M. Zimon, L. Almeida-Souza, J. Nikodinovic, Y. Parman, E. Battaloglu, V. Guergueltcheva, I. Tournev, M. Auer- Grumbach, T. Müller, P. Van Damme, W. N. Löscher, N. Barisic, Z. Mitrovic, S. C. Previtali, H. Topaloglu, G. Bernert, A. Beleza-Meireles, S. Todorovic, B. Ishpekova, K. Peeters, A. F. Hahn, S. Züchner, V. Timmerman, V. Milic Rasic, A. R. Janecke, A. Jordanova, P. De Jonghe. 202/6:00 De novo gain of function KCNT1 channel mutations cause seizures and developmental delay in malignant migrating partial seizures of infancy. G. Barcia, M. R. Fleming, A. Deligniere, V. Gazula, M. R. Brown, M. Langouet, H. Chen, J. Kronengold, A. Abhyankar, R. Cilio, P. Nitschke, A. Kaminska, N. Boddaert, J. L. Casanova, I. Desguerre, A. Munnich, O. Dulac, L. K. Kaczmarek, L. Colleaux, R. Nabbout. 203/6:15 Investigating the genetic etiology of familial epilepsies using next-generation sequencing. E. K. Ruzzo, E. L. Heinzen, R. Wedel, K. V. Shianna, I. E. Scheffer, S. F. Berkovic, R. Ottman, D. B. Goldstein. 204/6:30 Autoregulation of the DYT6-gene THAP1. A. Erogullari, P. Seibler, D. Braunholz, A. Grünewald, R. Depping, J. Eckhold, A. Rakovic, T. Lohnau, G. Gillessen-Kaesbach, C. Klein, K. Lohmann, F. J. Kaiser. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

99 INVITED AND PLATFORM SESSIONS 97 Thursday, November 8 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session C (38-46) SESSION 42 Cancer Genetics III: Common Variants Gateway Ballroom 104, Lower Level South, Moscone Center Moderators: Kathleen Cooney, Univ. of Michigan; Meredith Yeager, NCI/NIH 205/4:30 Identification of 23 novel prostate cancer susceptibility loci using a custom array (the icogs) in an international consortium, PRACTICAL. R. Eeles, A. Amin Al Olama, S. Benlloch, E. Saunders, D. Leongamornlert, M. Tymrakiewicz, M. Ghoussaini, C. Luccarini, J. Dennis, S. Jugurnauth-Little, T. Dadaev, PROTECT Group, G. Giles, G. Severi, F. Wiklund, H. Gronberg, C. Haiman, F. Schumacher, B. Henderson, L. Le Marchand, S. Lindstrom, P. Kraft, D. Hunter, S. Gapstur, S. Chanock, S. Berndt, PRACTICAL Consortium, Z. Kote-Jarai, D. Easton. 206/4:45 Large-scale genotyping identifies more than 40 novel breast cancer susceptibility loci. K. Michailidou, P. Hall, A. Gonzalez-Neira, M. Ghoussaini, J. Dennis, R. L. Milne, M. K. Schmidt, J. Chang- Claude, S. E. Bojesen, M. K. Humphreys, Q. Wang, M. Garcia-Closas, P. D. P. Pharoah, G. Chenevix-Trench, A. M. Dunning, J. Benitez, D. F. Easton, Breast Cancer Association Consortium. 207/5:00 Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. A. C. Antoniou, X. Wang, L. McGuffog, A. Lee, M. M. Guedet, K. B. Kuchenbaecker, P. Soucy, J. Simard, K. Offit, D. F. Easton, G. Chenevix-Trench, F. J. Couch, Consortium of Investigators of Modifiers of BRCA1/2. 210/5:45 Three independent loci within the TERT- CLPTM1L locus associated with telomere length and risk of breast and ovarian cancer. G. Chenevix- Trench, S. E. Bojesen, K. A. Pooley, S. Johnatty, J. Beesley, K. Michailidou, J. Tyrer, S. L. Edwards, H. C. Shen, K. Lawrenson, H. Pickett, M. Stutz, C. Smart, J. French, P. L. Mai, M. H. Greene, S. Gayther, R. Reddel, P. D. P. Pharoah, E. L. Goode, A. Berchuk, D. F. Easton, A. C. Antoniou, A. M. Dunning on behalf of CIMBA, OCAC and BCAC. 211/6:00 Statistical fine mapping of regions containing melanoma susceptibility genes identified through genome-wide association studies. J. H. Barrett, J. C. Taylor, M. Brossard, A. M. Goldstein, P. A. Kanetsky, E. M. Gillanders, J. A. Newton Bishop, D. T. Bishop, F. Demenais, M. M. Iles, GenoMEL Consortium. 212/6:15 Combining expression phenotypes with high density imputation to identify melanoma risk genes. M. H. Law, G. W. Montgomery, K. M. Brown, A. E. Cust, N. G. Martin, G. J. Mann, N. K. Hayward, S. MacGregor, Q-MEGA and AMFS Investigators. 213/6:30 Meta-analysis identifies four new loci for testicular germ cell tumor. C. C. Chung, Z. Wang, P. A. Kanetsky, C. Turnbull, K. McGlynn, R. L. Erickson, M. H. Greene, M. A. T. Hildebrandt, R. I. Skotheim, C. Kratz, M. B. Cook, F. Schumacher, R. Koster, M. Yeager, K. B. Jacobs, S. M. Schwartz, D. T. Bishop, H. K. Gjessing, V. Cortessis, N. Rahman, X. Wu, S. J. Chanock, K. L. Nathanson. 208/5:15 Identification of the first locus to modify breast cancer risk specifically in BRCA2 mutation carriers. K. Kuchenbaecker, M. Gaudet, J. Vijai, R. Klein, T. Kirchhoff, L. McGuffog, D. Barrowdale, A. Dunning, A. Lee, P. Hall, F. Couch, J. Simard, D. Altshuler, D. Easton, G. Chenevix-Trench, A. Antoniou, K. Offit, Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) Collaborators. 209/5:30 Fine-scale mapping and functional analysis of the breast cancer 11q13 (CCND1) locus. M. Ghoussaini, K. B. Meyer, S. Edwards, J. D. French, K. Michailidou, S. Ahmed, S. Khan, M. J. Maranian, C. S. Healey, P. D. P. Pharoah, H. Nevanlinna, M. A. Brown, G. Chenevix-Trench, D. F. Easton, A. M. Dunning, BCAC. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

100 98 INVITED AND PLATFORM SESSIONS Thursday, November 8 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session C (38-46) SESSION 43 Genetics of Craniofacial and Musculoskeletal Disorders Room 124, Lower Level North, Moscone Center Moderators: Irini Manoli, NHGRI/NIH; Siddharth Prakash, Univ. of Texas Hlth. Sci. Ctr. at Houston 214/4:30 Next-generation sequencing detects mutations in ISPD as a common cause of Walker- Warburg syndrome with defective glycosylation of dystroglycan. T. Roscioli, E.-J. Kamsteeg, K. Buysse, I. Maystadt, J. van Reeuwijk, C. van den Elzen, E. van Beusekom, M. Riemersma, R. Pfundt, L. E. L. M. Vissers, M. Schraders, M. F. Buckley, H. G. Brunner, H. Zhou, J. A. Veltman, C. Gilissen, G. M. S. Mancini, M. A. Willemsen, D. Petkovi Ramada, D. Chitayat, C. Bennett, E. Sheridan, E. A. J. Peeters, G. M. B. Tan- Sindhunata, H. Kayserili, O. Abd El-Fattah El-Hashash, D. L. Stemple, D. J. Lefeber, Y.-Y. Lin, H. van Bokhoven. 215/4:45 The identification of a novel gene identified by exome sequencing reveals the upstream components of the RAS/MAPK signaling pathway involved in Noonan syndrome. H. Yntema, W. Nillesen, J. Paardekooper Overman, M. Bonetti, J. de Ligt, H. Venselaar, M. Tartaglia, S. G. M. Frints, L. E. L. M. Vissers, J. den Hertog, I. van der Burgt. 216/5:00 DYNC2H1 mutations are commonly found in Jeune asphyxating thoracic dysplasia (JATD) without extraskeletal features while IFT140 mutations cause JATD with renal involvement. M. Schmidts, H. H. Arts, Z. Yap, E. M. H. F. Boengers, D. Anthony, M. M. Oud, S. Al-Turki, L. Duijkers, J. Stalker, J. B. Yntema, A. Hoischen, R. Bogdanovic, A. Peco Antic, C. Gillisen, H. Kayserili, I. Veltman, A. Kutkowska, E. J. Kamsteeg, R. C. M. Hennekam, P. Scambler, P. L. Beales, UK10K Consortium, N. V. A. M. Knoers, R. Roepman, H. M. Mitchison. 217/5:15 Dominant missense mutations in ABCC9 cause Cantú syndrome. G. van Haaften, M. Harakalova, J. J. T. van Harssel, P. Terhal, S. van Lieshout, K. Duran, I. Renkens, D. J. Amor, L. C. Wilson, E. P. Kirk, C. L. S. Turner, D. Shears, S. García- Miñaúr, M. M. Lees, A. Ross, H. Venselaar, G. Vriend, H. Takanari, M. B. Rook, M. A. G. van der Heyden, M. E. Swinkels, I. J. Scurr, S. F. Smithson, N. V. Knoers, J. J. van der Smagt, I. J. Nijman, W. P. Kloosterman, M. M. van Haelst, E. Cuppen. 218/5:30 Reduced dosage of ERF causes complex craniosynostosis in humans and mice, and links ERK1/2 signaling to regulation of osteogenesis. S. R. F. Twigg, I. Paraki, S. J. McGowan, M. Allegra, A. L. Fenwick, V. P. Sharma, E. Vorgia, A. Zaragkoulias, E. Sadighi Akha, S. J. Knight, H. Lord, T. Lester, L. Izatt, A. K. Lampe, S. N. Mohammed, F. J. Stewart, A. Verloes, L. C. Wilson, D. Johnson, S. A. Wall, P. Hammond, J. Hughes, S. Taylor, G. Mavrothalassitis, A. O. M. Wilkie. 219/5:45 Mutations in the multidomain protein MEGF8 identify a new subtype of Carpenter syndrome associated with defective lateralization. D. L. Lloyd, S. R. Twigg, N. Elcioglu, D. Jenkins, C. D. O. Cooper, N. Akarsu, E. Taskiran, N. Al-Sannaa, A. Annagür, G. Gillessen-Kaesbach, I. Stefanova, S. J. L. Knight, J. A. Goodship, B. Keavney, P. L. Beales, O. Gileadi, S. McGowan, A. O. M. Wilkie. 220/6:00 Increased frequency of FBN1 variants in adolescent idiopathic scoliosis. J. G. Buchan, D. A. Alvarado, M. C. Willing, M. B. Dobbs, C. A. Gurnett. 221/6:15 Exome sequencing in idiopathic scoliosis reveals rare variants in VANGL, a planar cell polarity gene involved in axial development. S. Sharma, J. A. Herring, X. Gao, D. Zhang, C. Wise. 222/6:30 Recessive mutations in FKBP10, a PPIase known to cause type XI OI, extend the phenotype to a congenital contracture syndrome (Kuskokwim disease), and cause diminished collagen crosslinking in matrix. A. M. Barnes, M. Weis, W. A. Cabral, E. Makareeva, E. L. Mertz, W. Paton, G. Duncan, C. Trujillo, S. Leikin, D. R. Eyre, S. J. Bale, J. C. Marini. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

101 INVITED AND PLATFORM SESSIONS 99 Thursday, November 8 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session C (38-46) Thursday, November 8 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session C (38-46) SESSION 44 Tools for Phenotype Analysis Room 132, Lower Level North, Moscone Center Moderators: Donna Maglott, NCBI/NIH; Gregory E. Crawford, Duke Univ. 223/4:30 PRIMUS: Pedigree Reconstruction and Identification of the Maximum Unrelated Set. J. Staples, D. Nickerson, J. Below. 224/4:45 Pharmacogenoinformatics: Novel approach of in silico drug designing based on genetic variation of MDR1 gene involved in statin resistance. A. Munshi, M. Sai Babu, A. Venkateswara Rao, A. Jyothy. 225/5:00 A general, integrated variant prioritization method for rapid determination of disease causing mutations from next-generation sequencing data. B. D. O Fallon, W. Wooderchak-Donahue, P. Bayrak- Toydemir. 226/5:15 Visually integrating and exploring high throughput phenome-wide association (PheWAS) results using PheWAS-view and PhenoGram. S. A. Pendergrass, S. Dudek, D. C. Crawford, M. D. Ritchie. 227/5:30 PhenoDB: A new web-based tool for the collection, storage and analysis of phenotypic features. A. Hamosh, J. Hoover-Fong, V. R. Sutton, N. Sobreira, C. Boehm, F. Schiettecatte, D. Valle. 228/5:45 A novel metabolomics analysis workflow provides new biological insights into the genetic basis of human metabolic variation. H. Dharuri, P. Henneman, D. O. Mook-Kanamori, K. Suhre, K. Willems van Dijk, P. A. C. `t Hoen. 229/6:00 Integration of large-scale gene annotation, electronic medical records, and incidence data to produce phenotype-specific posterior probabilities to aid interpretation of genome-wide variant data. I. M. Campbell, S. W. Cheung, A. Patel, S. R. Lalani, P. Stankiewicz, M. B. Ramocki, J. R. Lupski, C. A. Shaw. 230/6:15 The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: CREX, computerized methodology to identify health conditions using the EMR for GWAS. S. Sciortino, L. Walter, D. Ranatunga, L. Shen, D. Ludwig, J. Kay, L. Sakoda, N. Risch, C. Schaefer. 231/6:30 An informatics approach to analyzing the incidentalome. M. C. Adams, J. S. Berg, N. Nassar, C. Bizon, K. Lee, C. P. Schmitt, K. C. Wilhelmsen, J. P. Evans. SESSION 45 Therapy of Genetic Disorders Room 130, Lower Level North, Moscone Center Moderators: Cynthia J.R. Curry, UCSF; Brunhilde Wirth, Univ. of Cologne, Germany 232/4:30 Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. M. Taniguchi, K. Kobayashi, M. Kanagawa, C. C. Yu, T. Oda, A. Kuga, H. Kurahashi, H. O. Akmen, S. DiMauro, T. Yokota, S. Takeda, T. Toda. 233/4:45 Hematopoietic stem cell transplantation for adolescent and adult onset cerebral X-linked adrenoleukodystrophy. T. Matsukawa, T. Yamamoto, S. Seo, K. Kumano, M. Ichikawa, Y. Takahashi, H. Ishiura, J. Mitsui, M. Tanaka, J. Goto, M. Kurokawa, S. Tsuji. 234/5:00 Treating Pelizaeus-Merzbacher disease with clinically applicable compounds, curcumin and chloroquine: Preclinical studies. K. Inoue, T. Morimura, Y. Numata, L.-H. Yu, L. Gotoh, R. Yamamoto, N. Inoue, B. Antalfy, K. Deguchi, H. Osaka, Y. Goto. 235/5:15 Systemic L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a mouse model of Menkes disease. S. Kaler, A. Donsante, P. Sullivan, D. Goldstein, C. Holmes. 236/5:30 Response to VPA therapy in SMA patients is concordant from blood to neurons and influenced by CD36. B. Wirth, L. Heesen, I. Hölker, T. Bauer, J. Schreml, K. Zimmermann, M. Thoenes, M. Walter, J. Dimos, M. Peitz, O. Brüstle, R. Heller, L. Garbes. 237/5:45 Melatonin, a new biomarker reflecting brain serotonin metabolism in individuals with phenylketonuria: Evaluation of large neutral amino acid therapy by a randomized, double-blind crossover study. S. Yano, K. Moseley, C. Azen. 238/6:00 Beyond cholesterol: Antioxidant treatment for patients with Smith-Lemli-Opitz syndrome. E. Elias, R. Braverman, S. Tong. 239/6:15 Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47, XXY syndrome at 36 and 72 months of age. C. Samango-Sprouse, E. Stapleton, T. Sadeghin, F. Mitchell, T. Dixon, M. Kingery, A. Gropman. 240/6:30 A mechanism and treatment strategy for pregnancy-associated aortic dissection in Marfan syndrome. J. P. Habashi, N. Huso, D. Bedja, G. Rykiel, J. J. Doyle, H. C. Dietz. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

102 100 INVITED AND PLATFORM SESSIONS Thursday, November 8 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session C (38-46) SESSION 46 Pharmacogenetics: From Discovery to Implementation Room 123, Lower Level North, Moscone Center Moderators: Toni Pollin, Univ. of Maryland Sch. of Med.; Edward Ramos, NHGRI/NIH 241/4:30 Pharmacogenomics, ancestry and clinical decision making for global populations. E. Ramos, A. Doumatey, H. Huang, D. Shriner, G. Chen, S. Callier, J. Zhou, A. Adeyemo, H. Mcleod, C. Rotimi. 242/4:45 Cell line profiling in oncology (CELLO) as a discovery platform for systematic identification of genetic and genomic biomarkers of drug sensitivity. J. Zhong, H. Niu, J. Cai, S. Middleton, H. Bian, J. Hakenberg, C. Saisanit, F. Birzele, W. Berkofsky-Fessler, J. Rosinski, N. Sanapareddy, Z. Albertyn, B. Chen, S. Bader, G. Chen, M. Xia, L. Vassilev, A. Belousov, L. Essioux. 243/5:00 Screening of the TPMT gene before thiopurine treatment results in a lower leucopenia occurrence in patient with inflammatory bowel disease. M. J. H. Coenen, C. J. van Marrewijk, L. J. J. Derijks, S. H. Vermeulen, O. H. Klungel, A. L. M. Verbeek, H. Scheffer, B. Franke, H. J. Guchelaar, D. J. de Jong, TOPIC Study. 244/5:15 PGRNseq: A new sequencing-based platform for high-throughput pharmacogenomic implementation and discovery. A. S. Gordon, J. D. Smith, Q. Xiang, M. L. Metzker, R. A. Gibbs, E. R. Mardis, D. A. Nickerson, R. S. Fulton, S. E. Scherer. 245/5:30 Genetic variation in the GRK4 gene associates with susceptibility to hypertension and response to angiotensin receptor blockade. M. White, Z. Wang, H. Sanada, M. Yoneda, S. M. Williams, J. Bartlett, L. Gordon, S. Chen, L. Asico, C. Escano, V. Villar, C. Zeng, L. Wong, J. Jones, R. Felder, G. Eisner, P. Jose. 246/5:45 Genome-wide discovery of drugdependent human liver enhancers. R. P. Smith, K. M. Morrissey, X. Sun, T. J. Hoffman, K. M. Giacomini, N. Ahituv. 247/6:00 Genome-wide association study of vancomycin pharmacokinetics using a de-identified biorepository. S. L. Van Driest, T. L. McGregor, Z. Lu, S. Vear, C. B. Creech, P. J. Kannankeril, K. B. Brothers, A. Potts, E. Bowton, J. T. Delaney, Y. Bradford, S. Wilson, L. Olson, D. C. Crawford, B. Saville, D. M. Roden, J. C. Denny. 248/6:15 Integrating multiple levels of phenotypic information to map genetic determinants of glucocorticoid sensitivity. J. Maranville, S. Baxter, D. Witonsky, A. Di Rienzo. 249/6:30 Common and rare genetic variation in maturity-onset diabetes of the young genes influence response to interventions for diabetes prevention. L. Billings, l. Tipton, A. Warner, J. McAteer, A. Shuldiner, D. Ehrmann, A. Manning, D. Dabelea, P. Franks, S. Kahn, T. Pollin, W. Knowler, D. Altshuler, K. Jablonski, J. Florez. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

103 INVITED AND PLATFORM SESSIONS 101 Friday, November 9 8:00 AM 10:15 AM Concurrent Platform (abstract-driven) Session D (47-55) Friday, November 9 8:00 AM 10:15 AM Concurrent Platform (abstract-driven) Session D (47-55) SESSION 47 Structural and Regulatory Genomic Variation Hall D, Lower Level North, Moscone Center Moderators: Mike Lovett, Washington Univ. in St. Louis; Greg Elgar, MRC NIMR, London, U.K. 250/8:00 Germline mosaicism does not explain the maternal age effect on trisomy. R. Rowsey, B. Murdoch, P. Hunt, C. Dickerson, T. Woodruff, T. Hassold. 251/8:15 Female meiosis II errors prevalence and their impact on human embryo viability. A. Kuliev, Z. Zlatopolsky, I. Kirillova, J. Cieslak-Janzen. 252/8:30 A population isolate reveals enriched recessive deleterious variants underlying neurodevelopmental traits. O. Pietiläinen, J. Suvisaari, W. Hennah, V. Leppä, T. Paunio, M. Torniainen, S. Ripatti, S. Ala-Mello, K. Rehnström, A. Tuulio-Henriksson, T. Varilo, J. Tallila, K. Kristiansson, M. Isohanni, J. Kaprio, J. Eriksson, M. Jarvelin, R. Durbin, J. Lonnqvist, M. Hurles, H. Stefansson, N. Freimer, M. Daly, A. Palotie. 253/8:45 The role of trans-acting factors on recombination in oocytes with nondisjoined chromosomes 21. C. D. Middlebrooks, N. Mukhopadhyay, S. W. Tinker, E. G. Allen, L. J. H. Bean, F. Begum, R. Chowdhury, V. Cheung, E. Feingold, S. L. Sherman. 254/9:00 Large-scale function-based enhancer discovery. D. E. Dickel, Y. Zhu, A. S. Nord, J. A. Akiyama, A. Visel, L. A. Pennacchio. 255/9:15 A single enhancer on human chromosome 11 directly controls >1,000 promoters and distal regulatory elements genome-wide. J. A. Stamatoyannopoulos, H. Wang, G. J. Cost, H. Quh, Y. Santago, J. Belton, R. McCord, S. Orlando, S. Neph, L. Zhang, T. Canfield, E. Giste, R. Sandstrom, R. S. Hansen, R. E. Thurman, P. D. Gregory, J. Dekker, F. D. Urnov. 256/9:30 Identification of trait- and disease-relevant genetic polymorphisms in microrna target sites. S. Busche, B. Ge, T. Kwan, K. Wong, S.-H. Chen, M. Georges, D. Ginzinger, T. Pastinen. 257/9:45 Mapping functional p53 response elements and their variants in human genome. X. Wang, M. R. Campbell, V. G. Cheung, D. A. Bell. 258/10:00 A SNP associated with skin cancer and pigmentation disrupts a melanocyte enhancer in an intron of IRF4. D. U. Gorkin, S. K. Loftus, D. Lee, M. A. Beer, W. J. Pavan, A. S. McCallion. SESSION 48 Neuropsychiatric Disorders Gateway Ballroom 103, Lower Level South, Moscone Center Moderators: Dimitrios Avramopoulos, Johns Hopkins Univ.; Tatiana Foroud, Indiana Univ. Sch. of Med. 259/8:00 Genetic and functional abnormalities of the melatonin biosynthesis pathway in patients with bipolar disorder. S. Jamain, B. Etain, A. Dumaine, F. Bellivier, C. Pagan, L. Francelle, H. Goubran-Botros, S. Moreno, J. Deshommes, K. Moustafa, K. Le Dudal, F. Mathieu, C. Henry, J. P. Kahn, J. M. Launay, T. W. Mühleisen, S. Cichon, T. Bourgeron, M. Leboyer. 260/8:15 Massively-parallel sequencing of the brain transcriptome reveals differential expression of novel genes in bipolar disorder. N. Akula, J. Barb, X. Jiang, J. Wendland, K. Choi, S. Sen, B. K. Lipska, J. E. Kleinman, H. C. Bravo, D. T. Chen, P. J. Munson, F. J. McMahon. 261/8:30 Rare and common gain-of-function alleles of the serotonin transporter gene, SLC6A4, associated with Tourette disorder.p. R. Moya, J. R. Wendland, A. M. Andrews, L. M. Rubenstein, K. R. Timpano, G. A. Heiman, J. A. Tischfield, R. A. King, S. Rammamoorthy, F. J. McMahon, D. L. Murphy. 262/8:45 GLRB is the third major gene-of-effect in hyperekplexia or startle disease. S. K. Chung, A. Bode, C. A. Hunt, A. Derrick, T. D. Cushion, S. Wood, C. Drew, O. W. Howells, R. H. Thomas, J. G. Mullins, J. Lynch, M. I. Rees. 263/9:00 Functional analysis of rare chimeric genes in schizophrenia. C. Rippey, C. Remmers, M. Cahill, A. Nord, T. Walsh, M. Lee, M. Gasperini, P. Penzes, J. McClellan, M.-C. King. 264/9:15 Excess homozygosity in the major histocompatibility complex in schizophrenia. S. Mukherjee, S. Guha, M. Ikeda, N. Iwata, A. K. Malhotra, I. Pe er, A. Darvasi, T. Lencz. 265/9:30 Significant risk of new mutations for Huntington disease: CAG-size specific risk estimates of intermediate allele repeat instability. A. Semaka, C. Kay, C. Doty, J. A. Collins, M. R. Hayden. 266/9:45 Mutations in AKT3 lead to hemimegalencephaly. A. Poduri, G. D. Evrony, X. Cai, P. C. Elhosary, R. Beroukhim, M. K. Lehtinen, L. B. Hills, E. L. Heinzen, A. Hill, R. S. Hill, B. J. Barry, B. F. D. Bourgeois, J. J. Riviello, A. J. Barkovich, P. M. Black, J. Madsen, K. L. Ligon, C. A. Walsh. 267/10:00 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. J. Lee, M. Huynh, G. Mathern, J. Gleeson. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

104 102 INVITED AND PLATFORM SESSIONS Friday, November 9 8:00 AM 10:15 AM Concurrent Platform (abstract-driven) Session D (47-55) SESSION 49 Common Variants, Rare Variants, and Everything in Between Room 135, Lower Level North, Moscone Center Moderators: Steve Rich, Univ. of Virginia; Rasika Mathias, Johns Hopkins Univ. Sch. of Med. 268/8:00 Minimal differences in single nucleotide variation calls between blood- and cell line-derived DNA from the same individuals. C. M. Schafer, N. G. Campbell, G. Cai, J. S. Sutcliffe, J. D. Buxbaum, K. Roeder, ARRA Autism Sequencing Consortium. 269/8:15 The impact of genetic variation on diabetes-related quantitative traits from whole exome sequences: The T2D-GENES Consortium. H. M. Highland, X. Sim, A. Manning, M. Rivas, G. Atzmon, S. Choi, B. K. Cornes, J. Dupuis, J. C. Florez, P. Fontanillas, T. Frayling, E. R. Gamazon, I.-S. Huh, H. K. Im, J. Kim, Y. J. Kim, C. M. Lindgren, A. E. Locke, J. B. Meigs, A. P. Morris, N. Palmer, I. Prokopenko, T. M. Teslovich, T2D-GENES Consortium. 270/8:30 Whole-exome sequencing in multiplex families identifies novel rare variants in multiple sclerosis. A. H. Beecham, J. L. McCauley, A. Hadjixenofontos, P. L. Whitehead, I. Konidari, A. Aviram, Y. Pasco, S. L. Hauser, J. R. Oksenberg, D. J. Hedges, J. M. Vance, J. L. Haines, M. A. Pericak- Vance. 271/8:45 A Mendelian randomization study on vitamin D status and blood pressure: A metaanalysis in up to 89,042 individuals. K. S. Vimaleswaran, D. J. Berry, A. Cavadino, M. R. Järvelin, E. Hyppönen, D-CarDia Collaboration. 272/9:00 APOE modulates the relationship among triglycerides, cholesterol, and CHD through pleiotropy and gene-gene interactions. T. J. Maxwell, C. M. Ballantyne, J. M. Cheverud, C. S. Guild, C. E. Ndumele, E. Boerwinkle. 273/9:15 Statistical inference of tissue-consistent and tissue-specific eqtls. T. Flutre, X. Wen, J. Pritchard, M. Stephens. 274/9:30 Estimates of penetrance for common pathogenic copy number variations. J. A. Rosenfeld, B. P. Coe, E. E. Eichler, H. Cuckle, L. G. Shaffer. 275/9:45 Combining Illumina gene expression microarrays from different tissues: Methodological aspects. K. Heim, C. Schurmann, A. Schillert, C. Müller, T. Zeller, C. Herder, J. Kruppa, T. Illig, G. Homuth, K. Strauch, A. Peters, H. Wallaschofski, M. Dörr, T. Meitinger, P. S. Wild, S. Blankenberg, U. Völker, M. Roden, A. Teumer, H. Prokisch, A. Ziegler on behalf of MetaXpress Consortium. 276/10:00 A DNA variant caller adapted to assess mitochondrial DNA variation in lymphocytes from 1,000 Sardinians. J. Ding, C. Sidore, O. Meirelles, M. K. Trost, F. Busonero, R. Nagaraja, F. Cucca, G. R. Abecasis, D. Schlessinger. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

105 INVITED AND PLATFORM SESSIONS 103 Friday, November 9 8:00 AM 10:15 AM Concurrent Platform (abstract-driven) Session D (47-55) Friday, November 9 8:00 AM 10:15 AM Concurrent Platform (abstract-driven) Session D (47-55) SESSION 50 Population Genetics Genome-Wide Room 134, Lower Level North, Moscone Center Moderators: Melissa A. Wilson Sayres, Univ. of California, Berkeley; Sarah Tishkoff, Univ. of Pennsylvania 277/8:00 Direct measure of human somatic basesubstitution mutation rate in monozygotic twins. J. B. Richards, R. Li, A. Montpetit, T. D. Spector, C. Polychronakos. 278/8:15 Estimating human mutation rate using autozygosity in a founder population. C. D. Campbell, J. X. Chong, M. Malig, A. Ko, B. L. Dumont, L. Han, L. Vives, B. J. O Roak, P. H. Sudmant, M. Abney, C. Ober, E. E. Eichler. 279/8:30 The myth of random mating: Evidence of ancestry-related assortative mating across 3 generations in Framingham, MA. R. Sebro, G. Peloso, J. Dupuis, N. Risch. 280/8:45 Combined analysis of loss-of-function variants in protein-coding genes from over 16,000 individuals. D. G. MacArthur, M. Lek, K. Shakir, S. Balasubramanian, E. Lim, B. M. Neale, L. Habegger, S. Gabriel, P. Sullivan, S. Kathiresan, M. I. McCarthy, M. Boehnke, S. Purcell, S. A. McCarroll, M. B. Gerstein, D. Altshuler, M. A. DePristo, M. J. Daly. 281/9:00 Abundant selection explains low diversity on human Y chromosomes. M. Wilson Sayres, K. Lohmueller, R. Nielsen. 282/9:15 The genomic geography of close relatives across Europe. P. Ralph, G. Coop. 283/9:30 Evolutionary history and adaptation inferred from whole-genome sequences of diverse African hunter-gatherers. J. Lachance, B. Vernot, C. Elbers, B. Ferwerda, A. Froment, J. Bodo, G. Lema, W. Fu, T. Nyambo, T. Rebbeck, K. Zhang, J. Akey, S. Tishkoff. 284/9:45 Mapping the human genome s missing pieces using population admixture. G. Genovese, R. E. Handsaker, H. Li, N. Altemose, A. M. Lindgren, K. Chambert, B. Pasaniuc, A. Price, D. Reich, C. C. Morton, M. R. Pollak, J. G. Wilson, S. A. McCarroll. 285/10:00 When ancestry runs deep: Trans-species polymorphisms in apes. L. Segurel, E. Leffler, Z. Gao, S. Pfeifer, A. Auton, O. Venn, L. Stevison, A. Venkat, J. L. Kelley, J. Kidd, C. Bustamante, R. Bontrop, M. Hammer, J. Wall, P. Donnelly, G. McVean, M. Przeworski. SESSION 51 Endless Forms Most Beautiful: Variant Discovery in Genomic Data Gateway Ballroom 104, Lower Level South, Moscone Center Moderators: Terry Furey, Univ. of North Carolina at Chapel Hill; Deanna Church, NCBI/NIH 286/8:00 Dark matter of the diseasome: Annotating personal genomes for gene regulatory disease risk alleles. G. Bejerano. 287/8:15 Causal mutation discovery using nextgeneration sequencing data: Development and application of a pipeline to reduce false positive calls and to map regions of shared homozygosity and IBD. S. Gulsuner, T. Walsh, A. C. Watts, M. K. Lee, T. Ozcelik, M. C. King. 288/8:30 A new framework for large-scale genomic variant discovery and validation using pooled sequencing data. G. del Angel, M. Carneiro, E. Banks, R. Poplin, C. Hartl, M. A. DePristo. 289/8:45 Discovery of genomic variants from RNAsequencing data. R. Piskol, G. Ramaswami, J. B. Li. 290/9:00 zcall: A rare variant caller for array-based genotyping. J. I. Goldstein, A. Crenshaw, J. Carey, G. Grant, J. Maguire, M. Fromer, C. O Dushlaine, J. L. Moran, K. Chambert, C. Stevens, P. Sklar, C. Hultman, S. Purcell, S. McCarroll, P. F. Sullivan, M. J. Daly, B. M. Neale, Swedish Schizophrenia Consortium, ARRA Autism Sequencing Consortium. 291/9:15 Copy number detection and variant classification in the DDD project. T. W. Fitzgerald, K. I. Morley, M. van Kogelenberg, E. Bragin, P. Vijayarangakannan, A. Tivey, S. Clayton, S. Gribble, C. Wright, D. FitzPatrick, H. Firth, J. Barrett, N. Carter, M. Hurles. 292/9:30 Removal of mapping biases in sequencebased functional data improves regulatory element identification at heterozygous variants. M. Buchkovich, K. L. Mohlke, T. S. Furey. 293/9:45 SNP discovery in diverse human populations by rapid, very-low-cost next-generation sequencing of reduced representation libraries. T. F. Cooke, M. C. Yee, M. Muzzio, R. Bell, O. E. Cornejo, C. D. Bustamante, E. E. Kenny. 294/10:00 HIBAG -- HLA genotype imputation with attribute bagging. X. Zheng, J. Shen, C. Cox, J. Wakefield, M. Ehm, M. Nelson, B. Weir. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

106 104 INVITED AND PLATFORM SESSIONS Friday, November 9 8:00 AM 10:15 AM Concurrent Platform (abstract-driven) Session D (47-55) SESSION 52 Clinical Genetics: Complex Mechanisms and Exome-Discovery Room 124, Lower Level North, Moscone Center Moderators: Michael Gambello, Emory Univ.; Antonie D. Kline, Harvey Inst. for Human Genet., Baltimore 295/8:00 Systematic identification of causal mutations in Mendelian disorders using exome sequence data. M. Lek, N. F. Clarke, L. B. Waddell, B. Thomas, M. A. DePristo, M. J. Daly, K. N. North, D. G. MacArthur. 296/8:15 Exome sequencing of a large cohort of patients with congenital digestive system disorders. M. Yourshaw, S. F. Nelson, M. G. Martín. 297/8:30 Novel defect in kinetochore assembly causes short stature and microcephaly of postnatal onset. C. Y. Hung, J. E. Dallman, O. Rittinger, J. W. Bauer, M. Tekin, O. A. Bodamer. 298/8:45 Mutations in PIGO, a member of the GPI anchor synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. P. M. Krawitz, Y. Murakami, J. Hecht, U. Krüger, S. E. Holder, G. R. Mortier, B. Chiaie, E. Baere, M. D. Thompson, T. Roscioli, S. Kielbasa, T. Kinoshita, S. Mundlos, P. N. Robinson, D. Horn. 299/9:00 The 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. S. Jacquemont, F. Zufferey, E. H. Sherr, N. D. Beckmann, E. Hanson, A. Maillard, L. Hippolyte, A. Mace, C. Ferrari, Z. Kutalik, J. Andrieux, R. Bernier, S. Bouquillon, B. Delobel, W. Andrew-Faucett, R. P. Goin- Kochel, L. Harewood, S. Lebon, D. H. Ledbetter, C. Lese-Martin, K. Mannick, D. Martinet, M. B. Ramocki, S. J. Spence, K. Steinmann, J. Tjernagel, J. E. Spiro, A. Reymond, W. Chung, J. S. Beckmann on behalf of Simons VIP Consortium, and 16p11.2 European Consortium. 300/9:15 Ras/MAPK dysregulation caused by MEK2 haploinsufficiency: A novel mechanism for a RASopathy phenotype. M. J. M. Nowaczyk, B. Thompson, S. Zeesman, U. Moog, P. A. Sanchez-Lara, R. Falk, P. Magoulas, L. Brueton, S. M. Ahmudavalli, J. H. Fong, D. Batista, K. Rauen. 301/9:30 Analysis of ESP5400 exomes for results of clinical utility in genes for conditions tested as part of newborn screening programs and age-related macular degeneration. H. K. Tabor, S. M. Jamal, J. H. Yu, A. S. Gordon, W. S. Post, A. D. Johnson, T. A. Graubert, D. A. Nickerson, P. L. Auer, M. J. Bamshad on behalf of NHLBI Personal Genomics Project Team and NHLBI Exome Sequencing Project. 302/9:45 High congenital malformation rates in a Chernobyl ionizing radiation impacted population isolate in Ukraine. W. Wertelecki, L. Yevtushok, N. Zymak-Zakutnia, S. Lachenko. 303/10:00 Somatic mosaicism is responsible for congenital melanocytic naevus syndrome, and underpins the associated risk of melanoma. V. A. Kinsler, A. C. Thomas, N. W. Bulstrode, S. Abu-Amero, K. McKenzie, E. Chanudet, P. Stanier, E. Healy, N. J. Sebire, G. E. Moore. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

107 INVITED AND PLATFORM SESSIONS 105 Friday, November 9 8:00 AM 10:15 AM Concurrent Platform (abstract-driven) Session D (47-55) Friday, November 9 8:00 AM 10:15 AM Concurrent Platform (abstract-driven) Session D (47-55) SESSION 53 From SNP to Function in Complex Traits Room 132, Lower Level North, Moscone Center Moderators: Praveen Sethupathy, Univ. of North Carolina at Chapel Hill; Aravinda Chakravarti, McKusick-Nathans Inst. of Genet. Med., Baltimore 304/8:00 The type 2 diabetes risk allele of rs increases ARAP1 promoter activity and is associated with increased ARAP1 mrna in pancreatic islets. J. R. Kulzer, M. L. Stitzel, M. A. Morken, F. S. Collins, K. L. Mohlke. 305/8:15 NOS1AP is the major genetic electrocardiographic QT-interval regulator. A. Kapoor, R. B. Sekar, V. Pihur, M. K. Halushka, G. F. Tomaselli, A. Chakravarti. 306/8:30 A regulatory polymorphism in Csk, a Lyp binding partner, associates with systemic lupus erythematosus and affects B cell signaling, maturation and activation. N. Manjarrez-Orduño, E. Marasco, S. A. Chung, M. S. Katz, J. F. Kiridly, K. R. Simpfendorfer, J. Freudenberg, D. H. Ballard, E. Nashi, T. J. Hopkins, D. S. Cunninghame Graham, A. T. Lee, M. J. H. Coenen, B. Franke, D. S. Swinkels, R. Graham, R. P. Kimberly, P. M. Gaffney, T. J. Vyse, T. W. Behrens, L. A. Criswell, B. Diamond, P. K. Gregersen. 307/8:45 ITGAM coding variant, rs (R77H) that is associated with systemic lupus erythematosus (SLE) susceptibility affects its own expression in monocytes and ligand binding activities in SLE patients. A. K. Maiti, X. Kim-Howard, P. Motghare, J. M. Anaya, L. Loogers, S. K. Nath. 308/9:00 Loss-of-function of semaphorins 3C and 3D in Hirschsprung disease. Q. Jiang, K. P. Kilambi, T. Heanue, M. X. Sosa, Q. Wang, J. J. Gray, A. L. Kolodkin, D. D. Ginty, A. Chakravarti. 309/9:15 Functional assessment of human coding polymorphisms affecting skin pigmentation using zebrafish. Z. Tsetskhladze, V. Canfield, K. Ang, S. Wentzel, K. Reid, A. Berg, S. Johnson, K. Kawakami, K. Cheng. 310/9:30 Dosage effects of 169 Chr21 genes on early development events in zebrafish. S. Edie, N. Zaghloul, D. Klinedinst, J. Lebron, N. Katsanis, R. Reeves. 311/9:45 Two birds, one stone: Epistasis profiling of many single-nucleotide variants in a human gene. O. Zill, J. Kitzman, J. Shendure, S. Fields. 312/10:00 Discovery and replication of pathwaybased trans-eqtl associations. L. Wiley, W. Bush. SESSION 54 Genetic Counseling and Clinical Testing Room 130, Lower Level North, Moscone Center Moderators: Susan Hahn, Univ. of Miami, Hussman Inst. for Human Genomics; Andrew Faucett, Geisinger Hlth. Syst., Danville, PA 313/8:00 Utilization of chromosomal microarrays in pediatrics. A. H. Seeley, C. E. Keegan, C. S. Remmert, B. A. Tarini. 314/8:15 Maximizing detection and minimizing noise: The first report of large scale whole exome sequencing data interpretation in a clinical laboratory. F. Xia, J. Beuten, M. Bainbridge, Z. Niu, M. Vatta, M. R. Bekheirnia, R. E. Person, M. Hardison, J. G. Reid, D. P. Sexton, A. C. Hawes, P. A. Pham, M. Wang, N. Saada, W. Liu, H. Sun, M. Scheel, Y. Ding, A. Roy, J. Wiszniewska, A. Willis, D. M. Muzny, S. E. Plon, J. R. Lupski, A. L. Beaudet, R. A. Gibbs, C. M. Eng, Y. Yang. 315/8:30 Efficient detection of causative mutations for rare diseases: Rethinking clinical practice. H. Lee, J. Deignan, T. Toy, B. Harry, M. Yourshaw, P. Taylor, S. Webb, N. Dorrani, K. Das, F. Quintero, S. Kantarci, D. A. Wong, W. W. Grody, E. Vilain, S. F. Nelson. 316/8:45 Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study. B. B. Biesecker, F. M. Facio, H. Eidem, T. Fisher, S. Brooks, A. Linn, K. A. Kaphingst, L. G. Biesecker. 317/9:00 Changes to control perceptions following disclosure of APOE-coronary artery disease associations during genetic susceptibility testing for Alzheimer s disease: Findings from the REVEAL Study. K. Christensen, J. S. Roberts, W. R. Uhlmann, P. J. Whitehouse, T. O. Obisesan, D. L. Bhatt, L. A. Cupples, R. C. Green. 318/9:15 Decreased prediction ability of common genetic variants on breast cancer risk with age: Possible underlying models and impact on risk prediction. H. Aschard, S. Lindstrom, P. Kraft. 319/9:30 Large-sample size, comprehensive catalog of variants and advanced machine learning technique boost risk prediction for inflammatory bowel disease. Z. Wei, W. Wang, J. Bradfield, E. Frackelton, C. Kim, F. Mentch, R. Baldassano, H. Hakonarson, International IBD Genetics Consortium. 320/9:45 A comparison of risk estimates for complex diseases: Navigenics SNP-based testing and family history assessment. L. Aiyar, C. Shuman, R. Hayeems, L. Velsher, S. Wodak, D. Chitayat, J. Davies. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

108 106 INVITED AND PLATFORM SESSIONS Friday, November 9 8:00 AM 10:15 AM Concurrent Platform (abstract-driven) Session D (47-55) (SESSION 54, continued) 321/10:00 Web-based case conferencing: An effective source of cancer genetics training for community-based clinicians. K. Blazer, J. Weitzel. Friday, November 9 8:00 AM 10:15 AM Concurrent Platform (abstract-driven) Session D (47-55) SESSION 55 Mitochondrial Disorders and Ciliopathies Room 123, Lower Level North, Moscone Center Moderators: Catherine E. Keegan, Univ. of Michigan; Mitzi Murray, Univ. of Washington 322/8:00 Combination of modern and traditional techniques identify MCKD1 causal frameshift variants within the MUC1 VNTR. A. Kirby, A. Gnirke, D. Jaffe, V. Bareová, N. Pochet, B. Blumenstiel, C. Ye, D. Aird, C. Stevens, J. Robinson, M. Calibi, I. Gat-Viks, E. Kelliher, R. Daza, M. DeFelice, H. Hlková, J. Sovová, C. Antignac, M. Guttman, R. Handsaker, K. Lindblad- Toh, S. Gabriel, P. S. Hart, A. Regev, C. Nusbaum, S. Kmoch, A. Bleyer, E. Lander, M. Daly. 323/8:15 ARL13B, INPP5E, PDE6D and CEP164 form a functional network involved in Joubert syndrome and nephronophthisis. S. Seo, M. C. Humbert, K. Weihbrecht, C. C. Searby, Y. Li, R. M. Pope, V. C. Sheffield. 324/8:30 Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene. I. Perrault, S. Saunier, S. Hanein, E. Filhol, A. Bizet, F. Collins, M. Salih, S. Gerber, N. Delphin, E. Silva, V. Baudouin, M. Oud, N. Shannon, M. Le Merrer, O. Roche, C. Pietrement, C. Bole-Feysot, P. Nitschke, M. Zahrate, P. Beales, H. Arts, A. Munnich, J. Kaplan, C. Antignac, V. Cormier-Daire, J.-M. Rozet. 325/8:45 Mutations in ALDH1B1, which encodes a mitochondrial protein belonging to the aldehyde dehydrogenase family, result in hepatic failure and mitochondrial respiratory chain deficiency. S. Salhi, V. Serre, M. Beinat, P. Nitschke, O. Bernard, A. Slama, A. Munnich, A. Rotig. 326/9:00 Targeted exome sequencing of 102 patients with clinical evidence of mitochondrial disease. D. S. Lieber, S. E. Calvo, K. Shanahan, N. G. Slate, S. Liu, S. G. Hershman, N. B. Gold, B. A. Chapman, M. Borowsky, D. R. Thorburn, G. T. Berry, J. D. Schmahmann, D. M. Mueller, K. B. Sims, V. K. Mootha. 327/9:15 Genetic diagnosis of mitochondrial disorders by whole-exome sequencing. C. J. Carroll, V. Brilhante, P. Isohanni, R. Pöyhönen, L. Euro, U. Richter, T. Lahtinen, A. Götz, H. Almusa, P. Ellonen, H. Pihko, B. Battersby, H. Tyynismaa, A. Suomalainen. 328/9:30 Constitutive activation of STIM1 causes tubular aggregate myopathy. J. Laporte, F. Chevessier, A. Maues de Paula, C. Koch, S. Attarian, C. Feger, D. Hantaï, P. Laforêt, K. Ghorab, J. M. Vallat, M. Fardeau, D. Figarella-Branger, J. Pouget, M. Koch, C. Ebel, N. Levy, B. Eymard, M. Bartoli, J. Bohm. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

109 INVITED AND PLATFORM SESSIONS 107 Friday, November 9 8:00 AM 10:15 AM Concurrent Platform (abstract-driven) Session D (47-55) (SESSION 55, continued) 329/9:45 Mutation in PNPT1 gene, which encodes a mitochondrial polyribonucleotide nucleotidyltransferase, causes encephalopathy with choreo-athetotic movements. V. Vedrenne, A. Gowher, P. De Lonlay, P. Nitschke, V. Serre, N. Boddaert, C. Altuzarra, A. M. Mager-Heckel, F. Chretien, N. Entelis, I. Tarassov, A. Munnich, A. Rotig. 330/10:00 Comprehensive analysis of 101 nuclear genes for molecular diagnosis of mitochondrial disorders. R. Bai, J. Higgs, S. F. Suchy, S. Buchholz, D. Arjona, B. Boggs, C. Chinault, N. Smaoui, S. Benhamed, J. Compton, Y. Shevchenko, G. Richard, S. Bale, F. D. Kendall, S. Parikh, A. L. Gropman, W. Chung, A. Goldstein, S. E. Palmer, J. A. Panzer, S. W. Yum, M. J. Falk. Friday, November 9 10:30 AM 11:15 AM SESSION 56 Gruber Genetics Prize Award Presentation and Rosalind Franklin Young Investigator Award Announcement Hall D, Lower Level North, Moscone Center The Genetics Prize is awarded annually by The Gruber Foundation. The Genetics Prize is presented to a leading scientist, or up to three, in recognition of groundbreaking contributions to any realm of genetics research. The recipient will be presented with a gold medal and a $500,000 unrestricted cash award. Recipient: Douglas Wallace, PhD Prof. of Pathol. and Lab. Med., Univ. of Pennsylvania Ctr. of Mitochondrial and Epigenomic Med., Children s Hosp. of Philadelphia The 2012 Genetics Prize of The Gruber Foundation will be presented to pioneering geneticist Douglas C. Wallace for the discovery of mutations in the mitochondrial genome and their impact on human health and disease. Dr. Wallace will deliver a lecture entitled, A Bioenergetic Perspective on Origins, Health, and Disease. Life is the interplay between structure (anatomy), energy (vital force), and the information to encode the structural and energetic systems. Classical Western biomedical thought has taken an anatomical perspective on disease and a Mendelian perspective on genetics. However, these perspectives are proving increasingly inadequate to explain the biological and genetic basis of complex diseases, cancer, and aging. To augment this classical perspective, we need to consider the bioenergetics of the eukarotic cell which is centered on the symbiotic bacterium known as the mitochondrion. The mitochondrion has its own DNA, the mitochondrial DNA (mtdna), which encodes the core cellular energy genes. Mutations in the mtdna have been found to cause the full range of complex disease phenotypes, the thousands of mtdnas per cell provides an alternative explanation for quantitative genetic traits, and the analysis of mtdna variation in human populations has offered new insights into ancient ancestral migrations and adaptation to alternative environments. The causal role of bioenergetic changes in complex disease has been validated by the introduction of mtdna mutations into mice which then manifest common complex disease phenotypes. The recognition of the dichotomy between anatomical-chromosomal genes and bioenergetic-mtdna genes has generated new insights INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

110 108 INVITED AND PLATFORM SESSIONS Friday, November 9 10:30 AM 11:15 AM (SESSION 56, continued) into the molecular genetic basis of human health and disease, offered a new perspective on the neutralistselectionist debate, and provided an explanation for the force that drives the evolution of complex biological forms. The Gruber Genetics Prize has been presented annually since Laureates are: Rudolf Jaenisch, H. Robert Horvitz, David Botstein, Mary-Claire King, Robert H. Waterston, Elizabeth H. Blackburn, Maynard V. Olson, Allan C. Spradling, Janet Davison Rowley, Gerald Fink, Ronald Davis. Nominations for the 2013 Prize are currently open. The deadline is December 15, For further information see ROSALIND FRANKLIN YOUNG INVESTIGATOR AWARDS: Every three years, the Peter and Patricia Gruber Foundation presents the Rosalind Franklin Young Investigator Awards to two young women geneticists. One award is for research in genetics of humans and other mammals, and one award is for research in genetics of other model organisms. The awards are for career development and are $75,000 over three years. Winners of the Rosalind Franklin Award are in their first three years in an independent faculty level position in any area of genetics. The winners are selected by a committee of women geneticists, including former winners of the award. The recipients of the Rosalind Franklin Young Investigator Awards are: Valerie Horsley, PhD, Assistant Professor of Molecular, Cellular, and Developmental Biology at Yale University, for her studies of the epithelial stem cell niche delineated by mouse genetic models; and Friday, November 9 11:15 AM 11:45 AM SESSION 57 ASHG William Allan Award Presentation Hall D, Lower Level North, Moscone Center The William Allan Award is presented annually by ASHG to recognize substantial and far-reaching scientific contributions to human and medical genetics, carried out over a lifetime of scientific inquiry and productivity. Introduction: Tayfun Özcelik Bilkent Univ., Ankara, Turkey Recipient: Uta Francke, MD Prof. Em., Stanford Univ. Med. Ctr. Dr. Francke was chosen for her outstanding and tireless contributions to human and medical genetics fields, for her major impact on the study of many human disorders, for the breadth and depth of her applications of chromosomal analyses and molecular studies, and for her innovative uses of mouse models for understanding human genetic disease. The award recognizes her seminal work which extends back to the early days of medical and human genetics and includes more than 500 peer-reviewed publications. Among Francke s exemplary achievements are advances in understanding Charcot-Marie-Tooth, Marfan, Rett, Prader-Willi, Williams, and Wiskott- Aldrich syndromes, which have had a major impact on the studying and treatment of these disorders. In essence, her lifetime of scientific discoveries and numerous contributions to the field over the decades have been far-reaching and have made a significant impact on advancing both basic and clinical human genetics. Dr. Francke has been one of the most respected scientists in the genetics community and is a stellar example of a tireless scientist, always seeking answers to important questions that interested her. Mary Gehring, PhD, Member of the Whitehead Institute and Assistant Professor of Biology at MIT, for her studies of imprinting and epigenetic regulation in Arabidopsis. Other finalists were Genevieve Konopka, PhD, Assistant Professor of Neuroscience at UT Southwestern and Avital Rodal, PhD, Assistant Professor of Biology at Brandeis University. Past Recipients: John Opitz (2011); Jurg Ott (2010); Hunt Willard (2009); Haig Kazazian (2008); Arthur Beaudet (2007); Dorothy Warburton (2006); Francis Collins (2005); Louis Kunkel (2004); David Weatherall (2003); Albert de La Chapelle (2002); Charles Epstein (2001); Stephen Warren (1999); Bert Vogelstein (1998); Philip Leder (1997); Robert Elston (1996); Kurt Hirschhorn (1995); Douglas Wallace (1994); Antonio Cao & Michael Kaback (1993); Alec Jeffreys (1992); Janet Rowley & Alfred Knudson (1991); Kary Mullis (1990); David Bostein & Ray White (1989); T. Caspersson (1988); L. L. Cavalli-Sforza (1987); Mary Lyon (1986); Joseph Goldstein & Michael Brown (1985); Y. W. Kan (1984); Frank Ruddle (1983); Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

111 INVITED AND PLATFORM SESSIONS 109 Friday, November 9 11:15 AM 11:45 AM (SESSION 57, continued) Elizabeth Neufield (1982); Patricia Jacobs (1981); Walter Bodmer (1980); F. Clarke Fraser (1979); Charles Scriver (1978); Victor McKusick (1977); Philip Levin and A.S. Wiener (1975); Curt Stern (1974); Barton Childs (1973); Arno Motulsky (1970); Jerome Lejeune (1969); Harry Harris (1968); Vernon Ingram (1967); James Neel (1965); Newton Morton (1962). Friday, November 9 11:45 AM 12:45 PM SESSION 58 ASHG Membership and Business Meeting Hall D, Lower Level North, Moscone Center Reports highlighting current Society business will be presented. This is an opportunity for members to learn about recent ASHG activities and to provide suggestions to leaders. There will be a moment of silence for those members and colleagues we have lost in Discussion from the floor is encouraged. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

112 110 INVITED AND PLATFORM SESSIONS Friday, November 9 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session E (59-67) SESSION 59 Genome Structure and Variation Hall D, Lower Level North, Moscone Center Moderators: John Moran, Univ. of Michigan Med. Sch.; Ryan Mills, Univ. of Michigan Med. Sch. 331/4:30 A map of human genetic variation: Update from the 1000 Genomes Project. F. Yu, 1000 Genomes Consortium. 332/4:45 Towards a whole genome map of heritable copy number variation. S. Aradhya, L. Matyakhina, D. Pineda Alvarez, D. Riethmaier, A. Fuller, G. Richard, J. Meck. 333/5:00 Charting the population-scale landscape of short tandem repeat variation in humans. M. Gymrek, J. Chen, C. O Dushlaine, M. Daly, D. Reich, Y. Erlich. 334/5:15 Whole-genome sequencing analysis of ipsc lines uncovers lineage-manifested CNVs. A. E. Urban, A. Abyzov, D. Palejev, L. Rosenberg- Belmaker, Y. Zhang, J. Mariani, L. Tomasini, A. Ferrandino, A. Szekely, M. Wilson, M. Haney, E. Grigorenko, A. Huttner, S. Weissman, M. Gerstein, F. Vaccarino. 335/5:30 SNP markers identify areas with restricted recombination suggesting structural variation across the human genome is widespread. P. G. Hysi, B. Tamraz, A. Nag, C. Venturini, J. S. Rahi, T. D. Spector, C. J. Hammond. 336/5:45 Mapping the L1 interactome reveals RISCassociated helicase MOV10 as a potent inhibitor of retrotransposition. J. Goodier, L. Cheung, H. H. Kazazian. 337/6:00 FoSTeS/MMBIR replicative repair mechanisms are error prone: High frequency of nucleotide variation at the breakpoint junctions. C. M. B. Carvalho, M. B. Ramocki, D. Pehlivan, P. Fang, L. M. Franco, J. W. Belmont, P. J. Hastings, J. R. Lupski. 338/6:15 Telomere position effect in patients with subtelomeric deletions. J. Gerfen, M. K. Rudd, H. Mason-Suares. 339/6:30 De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining. M. F. Arlt, S. Rajendran, S. R. Birkeland, K. M. McSweeney, T. E. Wilson, T. W. Glover. Friday, November 9 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session E (59-67) SESSION 60 Advances in Neurodegenerative Disease Gateway Ballroom 103, Lower Level South, Moscone Center Moderators: Jeff Vance, Univ. of Miami; Tricia Thornton-Wells, Vanderbilt Univ. 340/4:30 A genome-wide association study for cerebrospinal fluid tau and amyloid beta 42 identify new candidate variants implicated in Alzheimer s disease. J. S. K. Kauwe, C. Cruchaga, O. Harari, K. Mayo, S. Bertelsen, M. Bailey, D. McKean, P. G. Ridge, T. J. Maxwell, E. Peskind, D. Galasko, A. M. Goate, ADGC, ADNI, GERAD. 341/4:45 Analysis of whole transcriptome specific to the temporal pole of late-onset Alzheimer s disease. C. E. Humphries, M. A. Kohli, P. W. Whitehead, W. F. Hulme, L. Nathanson, D. C. Mash, M. A. Pericak-Vance, J. R. Gilbert. 342/5:00 Rare variants from high-density exome genotyping in late-onset Alzheimer s disease: Update from Alzheimer s Disease Genetics Consortium. L.-S. Wang, A. C. Naj, C. Cruchaga, S. Mukherjee, C.-F. Lin, O. Valladares, L. B. Cantwell, R. Graham, T. Behrens, P. K. Crane, A. M. Goate, M. A. Pericak-Vance, G. D. Schellenberg, Alzheimer s Disease Genetics Consortium. 343/5:15 Common variants in ABCA7 and GRIN3B, HMHA1 and SBNO2, are associated with late-onset Alzheimer s disease in African Americans. C. Reitz, G. Jun, J. Buros, B. Vardarajan, L.-S. Wang, J. D. Buxbaum, E. B. Larson, N. Graff-Radford, D. Evans, N. Ertekin-Taner, M. Logue, C. T. Baldwin, R. C. Green, L. L. Barnes, L. B. Cantwell, M. D. Fallin, J. Manly, K. L. Lunetta, M. I. Kamboh, D. A. Bennett, K. Hall, A. M. Goate, G. S. Byrd, W. A. Kukull, T. M. Foroud, J. L. Haines, M. A. Pericak-Vance, L. A. Farrer, G. Schellenberg, R. Mayeux, ADGC Consortium. 344/5:30 Genome-wide association analyses of onset age in late-onset Alzheimer disease demonstrate no strong effect outside of the APOE region. A. C. Naj, Y. S. Park, R. Rajbhandary, K. L. Hamilton, G. W. Beecham, E. R. Martin, R. Mayeux, J. L. Haines, L. A. Farrer, G. D. Schellenberg, M. A. Pericak-Vance, Alzheimer s Disease Genetics Consortium. 345/5:45 Identification by exome analysis of the molecular bases of familial idiopathic basal ganglia calcification not related to SLC20A2 mutation. G. Nicolas, C. Pottier, D. Maltête, S. Coutant, A. Rovelet- Lecrux, S. Legallic, Y. Vaschalde, L. Guyant-Maréchal, J. Augustin, O. Martinaud, L. Defebvre, P. Krystkowiak, J. Pariente, I. Le Ber, T. Frebourg, D. Hannequin, D. Campion. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

113 INVITED AND PLATFORM SESSIONS 111 Friday, November 9 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session E (59-67) (SESSION 60, continued) Friday, November 9 4:30 PM 6:45PM Concurrent Platform (abstract-driven) Session E (59-67) 346/6:00 Mutations in DNAJ cause autosomal dominant Parkinson disease in the Mennonite community. C. Vilarino-Guell, A. Rajput, S. Appel- Cresswell, B. Shah, I. Yu, C. Thompson, C. Szu Tu, J. Trinh, M. Encarnacion, D. W. Dickson, A. J. Stoessl, M. L. Rajput, M. J. Farrer, A. H. Rajput. 347/6:15 C9ORF72 repeat expansion is a risk factor for Parkinson disease. K. Nuytemans, G. Bademci, M. M. Kohli, G. Beecham, V. Inchausti, A. Dressen, L. Wang, J. I. Young, F. Nahab, C. Singer, E. R. Martin, J. R. Gilbert, M. Benatar, J. L. Haines, W. K. Scott, S. Zuchner, M. A. Pericak-Vance, J. M. Vance. 348/6:30 Age-dependent penetrance of ALS+/-FTD due to C9orf72 hexanucleotide intronic repeat expansion mutations. B. N. Smith, S. Topp, J. Barnwell, A. Al-Chalabi, J. Kirby, P. J. Shaw, H. Pall, K. E. Morrison, V. de Jong, F. Bass, C. E. Shaw, C. M. Lewis. SESSION 61 Missing Heritability, Interactions and Sequencing Room 135, Lower Level North, Moscone Center Moderators: Dana Crawford, Vanderbilt Univ.; Alkes Price, Harvard Sch. of Publ. Hlth. 349/4:30 Empirical and theoretical studies on genetic variance of rare variants for complex traits using whole genome sequencing in the CHARGE Consortium. C. Zhu, A. Morrison, J. Reid, C. J. O Donnell, B. Psaty, L. A. Cupples, R. Gibbs, E. Boerwinkle, X. Liu. 350/4:45 Leveraging admixture analysis to resolve missing and cross-population heritability in GWAS. N. Zaitlen, A. Gusev, B. Pasaniuc, G. Bhatia, S. Pollack, A. Tandon, E. Stahl, R. Do, B. Vilhjalmsson, E. Akylbekova, A. Cupples, M. Fornage, L. Kao, L. Lange, S. Musani, G. Papanicolaou, J. Rotter, I. Ruczinksi, D. Siscovick, X. Zhu, S. McCarroll, G. Lettre, J. Hirschhorn, N. Patterson, D. Reich, J. Wilson, S. Kathiresan, A. Price, CARe Analysis Core. 351/5:00 Applying a quantitative genetics test of evolutionary neutrality to finger ridge-count, a classical model trait in humans. S. E. Medland, P. M. Visscher, G. W. Montgomery, D. M. Evans, N. G. Martin. 352/5:15 Does common variation contribute to the shared genetic basis for schizophrenia and autism? P. H. Lee, S. Ripke, S. Santangelo, M. Daly, Psychiatric GWAS Consortium - Schizophrenia & Autism Working Group. 353/5:30 Ultrafast genome-wide interaction scan on case-control data implicates epistatic calcium channels in bipolar disorder. S. Prabhu, I. Pe er. 354/5:45 Computational challenges in the analysis of low coverage sequence data in thousands of individuals. Y. Luo, L. Jostins, C. A. Anderson, J. C. Barrett, UK10K, UKIBDGC. 355/6:00 Sparse sequencing of 6,000 cases and 6,000 controls from Chinese women for genomewide association study of major depression. X. Gan, R. Mott, J. Flint, CONVERGE Consortium. 356/6:15 Deep targeted sequencing of 12 breast cancer loci in 4,700 women across four different ethnicities. P. Kraft, S. Lindstrom, B. Chapman, G. Chen, C. Chen, O. Hofman, D. Mirel, C. Haiman. 357/6:30 Population stratification of human disease-associated SNPs, and their relevance to human disease networks. S. M. Raj, G. E. Hoffman, A. G. Clark. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

114 112 INVITED AND PLATFORM SESSIONS Friday, November 9 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session E (59-67) SESSION 62 Exome Sequencing Uncovers Etiology of Mendelian Disease Room 134, Lower Level North, Moscone Center Moderators: Cheryl Maslen, Oregon Hlth. & Sci. Univ.; Jun Z. Li, Univ of Michigan 358/4:30 Loss of function mutations in known human disease genes in 572 exomes. J. Johnston, K. Lewis, D. Ng, S. Gonsalves, J. Mullikin, L. G. Biesecker. 359/4:45 The problem of multiple plausible molecular diagnoses in next-generation sequencing data: The NIH Undiagnosed Diseases Program experience. D. Adams, C. Boerkoel, K. Fuentes- Fajardo, P. Cherukuri, M. Sincan, C. Toro, C. Tifft, W. Gahl, T. Markello. 360/5:00 Exome sequencing to identify the cause of Mendelian diseases. J. Lupski, C. Gonzaga- Jauregui, W. Wiszniewski, D. Pehlivan, E. Karaca, A. Stray- Pedersen, S. Jhangiani, J. Reid, D. Muzny, R. A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics. 361/5:15 Domain-specific mutations in CDKN1C cause two disorders with opposing phenotypes: The undergrowth disorder IMAGe syndrome or the overgrowth disorder Beckwith-Wiedemann syndrome. V. Arboleda, H. Lee, R. Parnaik, A. Fleming, A. Banerjee, B. Ferraz-de-Souza, E. Delot, I. A. Rodriguez-Fernandez, D. Braslavsky, I. Bergadá, E. C. Dell Angelica, S. F. Nelson, J. A. Martinez- Agosto, J. C. Achermann, E. Vilain. 362/5:30 SCID newborn screening and exome sequencing identifies ataxia telangiectasia and low T cells early in life. J. M. Mallott, A. Kwan, J. Church, D. Gonzalez, S. Rana, U. Sunderam, R. Srinivasan, S. E. Brenner, L. F. Tang, F. Lorey, J. Puck. 363/5:45 Identification of a new melanocyte differentiation gene underlying human autosomal recessive albinism. K. Grønskov, C. M. Dooley, E. Østergaard, R. N. Kelsh, L. Hansen, M. P. Levesque, K. Vilhelmsen, D. Stemple, T. Rosenberg. 364/6:00 Exome sequencing results in 230 patients with severe developmental disorders in the DDD project. M. van Kogelenberg, K. Morley, T. Fitzgerald, S. Gerety, A. Tivey, S. Al-Turki, S. Clayton, C. Wright, J. Barrett, H. Firth, D. FitzPatrick, N. Carter, M. Hurles on behalf of DDD Project. 365/6:15 Genetic etiology of isolated congenital asplenia. A. Bolze, L. Abel, A. Puel, N. Trede, L. Selleri, J.-L. Casanova. 366/6:30 Whole genome sequencing in two brothers with heterotaxy reveals BCL9L as a novel gene associated with autosomal recessive heterotaxy (HTX6). C. J. Saunders, N. A. Miller, S. E. Soden, E. Farrow, D. L. Dinwiddie, N. P. Safina, S. Humphray, P. Saffrey, Z. Kingsbury, J. C. Weir, J. Betley, R. J. Grocock, J. E. Petrikin, K. P. Hall, S. F. Kingsmore. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

115 INVITED AND PLATFORM SESSIONS 113 Friday, November 9 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session E (59-67) Friday, November 9 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session E (59-67) SESSION 63 Transcriptional Regulation, Variation and Complexity Gateway Ballroom 104, Lower Level South, Moscone Center Moderators: Barbara Stranger, Brigham and Women s Hosp., Harvard Med. Sch; Ross Hardison, Penn State 367/4:30 The complete GENCODE human annotation: New insights into the functionality of transcriptional complexity. J. M. Mudge, A. Frankish, GENCODE Consortium, T. Hubbard, J. L. Harrow. 368/4:45 Genetic analyses in the Genotype-Tissue Expression (GTEx) project. K. Ardlie, N. Cox, D. DeLuca, E. Dermitzakis, B. Foster, G. Getz, R. Guigo, S. Jewell, D. Koller, J. Liu, J. Londsdale, D. Mash, M. McCarthy, M. Moser, D. L. Nicolae, A. Nobel, J. Pritchard, I. Rusyn, J. Thomas, W. Winckler, F. Wright, J. Zhu, GTEx Consortium. 369/5:00 Characterizing the genetic basis of transcriptome diversity in a large RNA sequencing study. A. Battle, S. Mostafavi, X. Zhu, S. B. Montgomery, J. B. Potash, M. M. Weissman, C. Haudenschild, C. McCormick, R. Mei, A. E. Urban, D. F. Levinson, D. Koller. 370/5:15 Genetic and molecular basis of RNA-DNA sequence differences in humans. V. G. Cheung, A. Bruzel, L. McDaniel, A. L. Richards, J. M. Toung, I. X. Wang. 371/5:30 Characterizing gene expression variation across seven diverse human populations. A. R. Martin, H. A. Costa, J. M. Kidd, B. M. Henn, M. C. Yee, F. Grubert, S. B. Montgomery, H. M. Cann, M. P. Snyder, C. D. Bustamante. 372/5:45 Comparative eqtl analyses within and between seven tissue types suggest mechanisms underlying cell type specificity of eqtls. B. Engelhardt, C. Brown. 373/6:00 Identification of novel genetic determinants of induced innate immune responses and context specific eqtl in human primary monocytes. B. P. Fairfax, S. Makino, J. C. Knight. 374/6:15 Gene-level and exon-level expression QTL signals in the UK Brain Expression Consortium dataset. M. E. Weale, A. Ramasamy, D. Trabzuni, R. Walker, C. Smith, M. Ryten, J. Hardy, UK Brain Expression Consortium. 375/6:30 First complete haplotype of the human immunoglobulin heavy chain locus from a single individual and characterization of novel allelic and structural variation. K. Meltz Steinberg, C. T. Watson, J. Huddleston, P. H. Sudmant, R. L. Warren, M. Malig, J. Schein, A. J. Willsey, J. B. Joy, J. K. Scott, T. Graves, R. K. Wilson, R. A. Holt, F. Breden, E. E. Eichler. SESSION 64 Epigenetics Room 124, Lower Level North, Moscone Center Moderators: Bernd Wollnik, Univ of Cologne, Germany; Beth A. Sullivan, Duke Univ. 376/4:30 The epitranscriptome reveals novel mechanisms of RNA regulation and spatiotemporal dynamics. C. E. Mason, K. Meyer, Y. Saletore, P. Zumbo, O. Elemento, S. Jaffrey. 377/4:45 Epigenome-wide profiling of circulating DNA in colorectal cancer. R. Cortese, Y. Li, A. Kwan, B. Zanke, Z. Zhang, A. Petronis. 378/5:00 Alterations in genomically imprinted mirna and snorna clusters in a mouse model of fetal alcohol spectrum disorders. B. I. Laufer, K. Mantha, M. L. Kleiber, E. J. Diehl, S. M. F. Addison, S. M. Singh. 379/5:15 KDM6A escapes X-inactivation and controls expression of reproduction-related homeobox genes in female ES cells and ovary: Deficiency may explain embryonic and ovarian failure in Turner. C. M. Disteche, J. B. Berletch, X. Deng, D. Nguyen. 380/5:30 Genome-wide scan of DNA methylation in the aging brain and its relation to Alzheimer s disease. P. L. De Jager, G. Srivastava, M. L. Eaton, L. E. Chibnik, B. Keenan, N. Taner, A. Myers, B. Bernstein, A. Meissner, M. Kellis, D. A. Bennett. 381/5:45 RNA-mediated transcriptional silencing in Friedreich ataxia. Y. K. Chutake, A. M. Castro, S. I. Bidichandani. 382/6:00 P53 regulates 5-hydroxymethylcytosinemediated epigenetic landscape through GADD45A. Y. Li, Y. Zhu, K. Szulwach, L. Lin, C. Street, H. Wu, D. Chen, P. Jin. 383/6:15 Maps of open chromatin highlight cell type-specific patterns of regulatory sequence variation at hematological trait loci. C. A. Albers, D. S. Paul, A. Rendon, K. Voss, J. Stephens, P. van der Harst, J. C. Chambers, N. Soranzo, W. H. Ouwehand, P. Deloukas, HaemGen Consortium. 384/6:30 Functional epialleles at an endogenous human centromere. B. A. Sullivan, K. A. Maloney, L. L. Sullivan, E. D. Strome, J. Matheny. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

116 114 INVITED AND PLATFORM SESSIONS Friday, November 9 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session E (59-67) SESSION 65 Advances in Ocular Genetics Room 132, Lower Level North, Moscone Center Moderators: Erica Davis, Duke Univ. Med. Ctr; Arupa Ganguly, Univ. of Pennsylvania 385/4:30 Rare insertion polymorphisms identified by exome sequencing may be associated with agerelated macular degeneration. L. Farrer, J. Kozubek, M. Schu, J. Farrell, M. Morrison, K. Mayne, D. Morgan, R. Robinson, A. Swaroop, D. Schaumberg, K.-H. Park, E. E. Tsironi, G. Silvestri, I.-K.. Kim, R. Chen, C. Huff, G. Jun, M. deangelis. 386/4:45 The role of SIX6 in primary open-angle glaucoma. M. Ulmer, B. Whigham, D. Parker, X. Qin, N. Katsanis, Y. Liu, A. Ashley-Koch, R. R. Allingham, M. Hauser, NEIGHBOR Consortium Investigators. 387/5:00 Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a mouse model of primary open angle glaucoma. G. S. Zode, K. E. Bugge, E. M. Stone, V. C. Sheffield. 388/5:15 Meta-analysis of GWAS on corneal thickness identifies a total of 27 associated loci, including six risk loci for eye disease keratoconus. S. Macgregor on behalf of CCT Consortium. 389/5:30 Mouse models reveal an essential role for RERE in eye development. B. Kim, Z. Yu, O. Shchelochkov, M. Justice, B. Lee, D. Scott. 390/5:45 Mutations in the nuclear NAD synthesizing enzyme NMNAT1 cause autosomal recessive Leber congenital amaurosis with early-onset severe macular atrophy and optic atrophy. J. Rozet, I. Perrault, S. Hanein, X. Zanlonghi, V. Serre, M. Nicouleau, S. Defoort-Delhemmes, N. Delphin, L. Fares-Taie, S. Gerber, O. Xerri, C. Edelson, A. Goldenberg, A. Duncombe, G. Le Meur, C. Hamel, E. Silva, P. Nitschke, P. Calvas, A. Munnich, O. Roche, H. Dollfus, J. Kaplan. 391/6:00 RNA-DNA differences in mirna transcriptome of retina and retinoblastoma. A. Ganguly, J. Leipzig, J. Richards, J. Purrazzella, T. Ganguly. 392/6:15 Knock-in of human KIAA0649P in to the mouse Rb1 locus: Modeling the mechanism of imprinted RB1 expression in humans. L. Steenpass, D. Kanber, M. Hiber, K. Buiting, D. Lohmann, B. Horsthemke. 393/6:30 Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa. K. J. Wert, R. J. Davis, S. H. Tsang. Friday, November 9 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session E (59-67) SESSION 66 Cancer Genetics: Somatic Variants Room 130, Lower Level North, Moscone Center Moderators: Charis Eng, Cleveland Clinic; Jennelle Hodge, Mayo Clin. 394/4:30 The genomic landscape of childhood pre- B acute lymphoblastic leukemia. J. Spinella, R. Vidal, J. Healy, V. Saillour, E. Bareke, C. Richer, S. Busche, B. Ge, T. Pastinen, D. Sinnett. 395/4:45 Genomic analysis of serial chronic lymphocytic leukemia samples suggests that epigenetic changes, rather than clonal evolution, drive progression of disease. E. N. Smith, C. DeBoever, L. Rassenti, E. Ghia, S. Rozenzhak, P. Shepard, H. Alakus, O. Harismendy, C. Barrett, T. J. Kipps, K. A. Frazer. 396/5:00 Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. A. Fujimoto, Y. Totoki, T. Abe, K. A. Boroevich, F. Hosoda, H. H. Nguyen, M. Aoki, N. Hosono, M. Kubo, F. Miya, Y. Arai, H. Takahashi, T. Shirakihara, M. Nagasaki, T. Shibuya, K. Nakano, K. Watanabe-Makino, H. Tanaka, H. Nakamura, K. Chayama, N. Kamatani, S. Miyano, H. Nakagama, Y. Nakamura, T. Tsunoda, T. Shibata, H. Nakagawa. 397/5:15 Breast cancer evolution revealed by deep whole-genome sequencing of early neoplasias and their concurrent carcinomas. A. Sidow, D. Kashef- Haghighi, D. Newburger, Z. Weng, T. Sweeney, S. Batzoglou, R. West. 398/5:30 Intra-tumor genetic heterogeneity in cancer tissues: The key to assessing its significance is the distribution profile of gene variants not just their presence in tumors. B. Gottlieb, C. Alvarado, C. Wang, B. Gharizadeh, F. Babrzadeh, L. K. Britel, M. Trifiro. 399/5:45 Next generation sequencing and chromosomal microarray analysis provide novel insight into the genomic landscape of metastatic breast cancer. M. Li, Y. Wen, E. Fang, Y. Li, P. Chen, G. Douglas, C. Carmack, K. Osborne. 400/6:00 The 3D topographic mapping of genetic variations in treatment of naïve advanced ovarian cancer.e. Cuppen, M. de Pagter, M. Hoogstraat, G. Cirkel, J. Kreeftmeijer, C. Lee, E. Levandowsky, T. Guy, K. Duran, R. `t Slot, T. Jonges, S. van Lieshout, M. Lolkema, R. Zweemer, M. Koudijs, I. Nijman, E. Voest, T. Harkins, W. Kloosterman. 401/6:15 Transcriptome sequence analysis of human colorectal cancer samples to reveal functional attributes. H. Ongen, T. F. Orntoft, B. Oster, L. Romano, A. Planchon, C. L. Andersen, E. T. Dermitzakis. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

117 INVITED AND PLATFORM SESSIONS 115 Friday, November 9 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session E (59-67) (SESSION 66, continued) Friday, November 9 4:30 PM 6:45 PM Concurrent Platform (abstract-driven) Session E (59-67) 402/6:30 Regulatory regions are somatic mutation cold spots in cancer genomes. S. Sunyaev, P. Polak, M. S. Lawrence, R. E. Thurman, N. Stoletzki, P. Stojanov, E. Rynes, L. A. Garraway, S. Mirkin, G. Getz, J. A. Stamatoyannopoulos. SESSION 67 Developmental Insights into Human Malformations Room 123, Lower Level North, Moscone Center Moderators: Lucy Osborne, Univ. of Toronto, Canada; Rhona Schreck, Cedars-Sinai Med Ctr. 403/4:30 TECTONIC3 mutations cause orofaciodigital syndrome type IV (Mohr-Majewski). S. Thomas, M. Legendre, S. Saunier, B. Bessières, C. Alby, M. Bonnière, A. Toutain, L. Loeuillet, K. Szymanska, F. Jossic, D. Gaillard, M. Tahar Yacoubi, S. Mougou-Zerelli, A. David, M.-A. Barthez, Y. Ville, C. Bole-Feysot, P. Nitschke, A. Munnich, C. A. Johnson, F. Encha-Razavi, V. Cormier-Daire, C. Thauvin-Robinet, M. Vekemans, T. Attié-Bitach. 404/4:45 Abnormal development of NG2+PDGFR + neural progenitor cells causes neonatal hydrocephalus in a ciliopathy mouse model. C. S. Carter, T. W. Vogel, Q. Zhang, T. O. Moninger, D. R. Thedens, K. M. Keppler-Noreuil, D. Y. Nishimura, C. C. Searby, K. Bugge, V. C. Sheffield. 405/5:00 Malformation of the brain cortex, as the only expression of a ciliopathy, results from mutation in human Rotatin. G. M. S. Mancini, F. W. Verheijen. 406/5:15 Whole exome resequencing identifies mutations in LRRC6 as a novel single-gene cause of primary cliary dyskinesia. M. Chaki, H. Y. Gee, E. A. Otto, K. Diaz, T. W. Hurd, J. Halbritter, S. J. Allen, M. B. Zariwala, M. R. Knowles, F. Hildebrandt. 407/5:30 Temporally and spatially resolved catalogues of in vivo forebrain enhancers. A. S. Nord, L. Taher, J. Akiyama, M. J. Blow, A. Holt, R. Hosseini, S. Phouanenavong, I. Plajzer-Frick, M. Shoukry, V. Afzal, E. M. Rubin, I. Ovcharenko, J. L. R. Rubenstein, L. A. Pennacchio, A. Visel. 408/5:45 SRY regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease. Y. Li, Z. L. Tabatabai, M.-M. Garcia-Barceló, P. K. H. Tam, Y.-F. C. Lau. 409/6:00 MAP3K1 mutations in 46 XY DGDs alter crosstalk in downstream signal transduction pathways to cause abnormal human gonadal development. J. Loke, A. Pearlman, H. Ostrer. 410/6:15 Soft tissue aspects of the Williams-Beuren syndrome facial phenotype can be attributed to GTF2IRD1. S. J. Palmer, C. P. Canales, P. Carmona- Mora, P. Kaur, P. W. Gunning, E. C. Hardeman. 411/6:30 Notch gain of function inhibits chondrocyte differentiation via Rbpj-dependent suppression. S. Chen, J. Tao, Y. Bae, M. Jiang, T. Bertin, Y. Chen, T. Yang, B. Lee. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

118 116 INVITED AND PLATFORM SESSIONS Saturday, November 10 8:00 AM 8:20 AM SESSION 68 ASHG Award for Excellence in Human Genetics Education Hall D, Lower Level North, Moscone Center The ASHG Award for Excellence in Human Genetics Education was established to recognize those who have made significant contributions of exceptional quality and great importance to human genetics education. Past Recipients: Giovanni Romeo (2011); Thomas Gelehrter (2010); Bruce Korf (2009); John Carey, Lynn Jorde & Louisa Stark (2008); Robert Elston (2007); Roberta Pagon (2006); Joseph McInerney (2005); Robert Gorlin (2004); Joan Marks (2003); Kurt Hirschhorn (2002); Charles Scriver (2001); F. Clarke Fraser (2000); Arno Motulsky (1999); C.C. Li (1998); Victor McKusick (1997); Barton Childs (1996); Margaret Thompson (1995). Introduction: Kay Davies, Univ. of Oxford Recipient: Alan E. H. Emery, MD, PhD, DSc Em. Prof. of Human Genetics, Univ. of Edinburgh; Hon. Fellow, GreenTempleton Col., Univ. of Oxford Professor Emery is being recognized for his distinguished work in education through lecturing, mentoring, establishment of programs, and for his writings, which include over 400 peer-reviewed articles and 26 books on all aspects of human and medical genetics (as well as poetry and the relationship between Medicine and Art). Indeed, Professor Emery has been one of the most prolific authors of important genetics texts in the world. His books have covered all aspects of medical genetics, prenatal diagnosis, genetic counseling, statistics, molecular genetics, and historical perspectives. His texts including Elements of Medical Genetics (general), Methodology in Medical Genetics (statistics), Introduction to Recombinant DNA (molecular genetics) and Principles and Practice of Medical Genetics with David Rimoin (medical), remain among the most important texts in their fields. One of his textbooks has been republished in twelve editions and translated into seven languages. Professor Emery was the first to describe a form of muscular dystrophy now referred to as Emery-Dreifuss Muscular Dystrophy (EDMD or EMD) and the defective protein Emerin is named after him. Among his many accolades, Professor Emery is a fellow or honorary fellow in ten different societies, including the Royal Society of Medicine and the Royal Society of Arts. Emery has also received many awards, including the Lifetime Achievement Award from the World Federation of Neurology and the Cockcroft Medal from the University of Manchester, plus several honorary degrees. For many in the field of human genetics, Professor Emery is simply known as the expert. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

119 INVITED AND PLATFORM SESSIONS 117 Saturday, November 10 8:20 AM 8:40 AM SESSION 69 ASHG Victor A. McKusick Leadership Award Presentation Hall D, Lower Level North, Moscone Center ASHG established this prestigious award in honor of Dr. Victor A. McKusick and his inspiring contributions to the human genetics field. The McKusick Leadership Award is presented to an individual whose professional achievements have fostered and enriched the development of the field of human genetics. Recipients of this award exemplify the enduring leadership and vision required to ensure that the field of human genetics will flourish and successfully assimilate into the broader context of science, medicine, and health. Introduction: Joann A. Boughman, Univ. Syst. of Maryland Recipient: year later, he was chosen by President Obama to serve as the director of the National Institutes of Health. Dr. Collins has received many awards for his achievements in science and technology, including the Presidential Medal of Freedom in November 2007, the National Medal of Science in 2009, and election into the Institute of Medicine and the National Academy of Sciences. Dr. Collins has also made singing for science an emphasis of his professional career. His efforts in education and outreach are commended by many. These efforts include, among many others, creating clinical partnerships with four historically black colleges and universities to develop clinical research degrees and conduct treatment trials among minority patients, and establishing the National Center for Advancing Translational Sciences to enhance the process of translating scientific discoveries into new drugs, diagnostics, and devices. Dr. Collins continues to play a vital role in the advancement of genetics and medical research and the improvement of health and medicine. Francis S. Collins, MD, PhD Director, National Institutes of Health Dr. Collins has been named as the 2012 winner in recognition of his extensive achievements in genetics research, his efforts to advance health science and technology through policy and education, and his stellar leadership of the genetics community in mapping the human genome. The revolution that was dreamed of at the start of the Human Genome Project is currently being realized. Today s medical geneticists, genetic counselors, and other health professionals are increasingly able to identify and test genes associated with both single-gene and complex disease. Today s medical researchers are increasingly able to investigate treatments and therapies for diseases with genetic causes. These medical and scientific advances would not have been possible without Dr. Collin s leadership and dedication to studying the molecular genetics of diseases, for the benefit of health and medicine. During the completion of the NIH-based Human Genome Project, Dr. Collins served as the Director of the National Human Genome Research Institute. However, prior to taking on that leadership role, he had already contributed much to human genetics. He took part in the identification of the gene for cystic fibrosis in 1989, the gene for neurofibromatosis in 1990, and the gene for Huntington s disease in His laboratory is known for its past and continuing focus on the function of genes involved in breast cancer, diabetes, Hutchinson-Gilford progeria syndrome, and many other conditions. In 2008, Dr. Collins stepped down from the NHGRI, and less than Past Recipients: Leon E. Rosenberg (2011); Charles J. Epstein (2010); Arno G. Motulsky (2009); Victor A. McKusick (2008); Walter Nance (2007); David Rimoin (2006). INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

120 118 INVITED AND PLATFORM SESSIONS Saturday, November 10 8:40 AM 8:45 AM SESSION 70 AJHG C.W. Cotterman Awards Announcement Hall D, Lower Level North, Moscone Center Presenter: David L. Nelson, Editor, The American Journal of Human Genetics Baylor Col. of Med Each September, the editorial board of The American Journal of Human Genetics elects two articles published in the journal in the previous year that best represent outstanding scientific contributions to the field of human genetics. Two Cotterman Awards are given annually. Monetary awards of $1000 and a certificate will be presented to the recipients for the top two papers published in the Journal during the previous year on which the first author was either a pre- or post- doctoral trainee and an ASHG member. Saturday, November 10 8:45 AM 8:55 AM SESSION 71 ASHG Charles J. Epstein Trainee Awards for Excellence in Human Genetics Research: Announcement of Winners Hall D, Lower Level North, Moscone Center Presenter: C. E. Pearson, Awards Committee Chair Hosp. for Sick Children ASHG honors excellence in research conducted by predoctoral and postdoctoral trainees, including genetic counseling trainees, through merit-based awards that recognize highly competitive abstracts submitted for the Annual Meeting. These awards were renamed in 2012 to honor the late Dr. Charles Epstein. 60 Semifinalists were selected based on abstract score and awarded complimentary registration plus $750 each. Of those semifinalists, 18 finalists (selected by the Awards Committee) received an additional $250. The finalists presentations were reviewed by the ASHG Awards Committee and volunteer judges during the Annual Meeting. Six winners announced today will receive an additional $1000 each. Members of the Awards Committee are Christopher Pearson, Chair; Goncalo Abecasis, Georgia Dunston, Maximilian Muenke, Pragna Patel, Sharon Plon. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

121 INVITED AND PLATFORM SESSIONS 119 Saturday, November 10 8:55 AM 9:20 AM SESSION 72 ASHG Curt Stern Award Presentation Hall D, Lower Level North, Moscone Center The Curt Stern Award is given annually by ASHG in recognition of major scientific achievement in human genetics that has occurred in the last 10 years. The work could be a single discovery or a series of contributions on similar or related topics. This Award honors the memory of Dr. Curt Stern ( ), an outstanding pioneer in human genetics who served as ASHG president in Introduction: Evan Eichler, Univ. of Washington Recipient: Jay A. Shendure, MD, PhD Assoc. Prof., Dept. of Genome Sciences, Univ. of Washington Dr. Shendure was selected for his outstanding contributions to the broad development and application of exome sequencing and its truly revolutionary effects on human genetics, as well as for the development of methods for high-throughput functional analysis of non-coding areas of DNA. This work has been - and will continue to be - of great impact to human disease gene discovery and understanding in clinical genetics. Importantly, these contributions have permitted individual (particularly small) clinical and laboratory groups to make significant contributions to our understanding of disease. Most recently, Dr. Shendure and colleagues non-invasively sequenced the whole genome of a fetus, using DNA from the blood of the mother and the saliva of the father. This work will lead to major changes in prenatal diagnosis as the field moves toward non-invasive yet comprehensive testing. Dr. Shendure is one of the most promising young scientists in our genetics community. He will certainly continue to lead the way in developing techniques that will have great impact on patients. Past Recipients: David Altshuler (2011); Vivian Cheung (2010); David Haussler and James Kent (2009); Evan Eichler (2008); Jeffrey Murray (2007); Hal Dietz (2006); Patrick Brown (2005); Neil Risch (2004); David Page (2003); James Lupski (2002); Daniel Pinkel and Joe Gray (2001). Saturday, November 10 9:40 AM 11:40 AM Concurrent Invited Session III (73-80) SESSION 73 Returning Results from Large-Scale Sequencing: Where the Rubber Meets the Road Gateway Ballroom 103, Lower Level South, Moscone Center Moderators: Leslie G. Biesecker, NHGRI/NIH; Robert C. Green, Brigham and Women s Hosp. Medicine is on the brink of a revolution, as large-scale medical sequencing (LSMS) is now available for patient care, marking the dawn of genomic medicine. LSMS may be used in patients with a family history or symptoms of a disease for diagnosis or to predict future health risks for prevention and surveillance. Developing standards and procedures for the use of LSMS in clinical medicine is critical and there is a need for empiric data to determine how to interpret, analyze, and return results. A critical question is how to handle secondary findings from LSMS. Speakers in this session will share their pioneering research initiatives that explore the translation of LSMS into meaningful clinical information and the delivery to patients. The speakers will report on a range of studies, including patients ascertained with diseases, healthy volunteers, adults, and children, research versus clinical, and rare versus common disease. All of the speakers will focus on results, and not just opinions, to inform the practice of genomic medicine and future research studies on the return of results. Dr. Biesecker will introduce the session and present ClinSeq, a large cohort LSMS study with return of results to subjects. Dr. Green will present the results of two efforts to formulate consensus on return of incidental findings in LSMS. Dr. Kingsmore will present experience with neonatal and pediatric diagnosis by LSMS. Finally, Dr. Veltman will present the results of a pilot using LSMS to diagnose genetically heterogeneous diseases with required return of all medically relevant results. 9:40 AM ClinSeq: A pilot study of large-scale medical sequencing in research and implications for clinical genomic medicine. L. G. Biesecker. NHGRI/NIH. 10:10 AM Expert concordance and discordance for return of incidental findings from whole genome sequencing. R. C. Green. Brigham and Women s Hosp. 10:40 AM Using next-generation sequencing for carrier testing for severe childhood recessive diseases. S. F. Kingsmore. Children s Mercy Hosp., Kansas City, KS. 11:10 AM Diagnostic implementation of exome sequencing: Results from 500 patients. J. Veltman. Genomic Disorders Nijmegen, Netherlands. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

122 120 INVITED AND PLATFORM SESSIONS Saturday, November 10 9:40 AM 11:40 AM Concurrent Invited Session III (73-80) SESSION 74 Genomic Approaches to Mendelian Disorders Hall D, Lower Level North, Moscone Center Moderators: Jay Shendure, Univ. of Washington; David Valle, Johns Hopkins Univ. Sch. of Med. Although the gene(s) underlying approximately 3,000 Mendelian disorders are known, there are thousands of well-defined or suspected Mendelian disorders for which the genetic basis remains unknown. The past three years have been witness to an explosion of interest in applying new technologies such as exome and genome sequencing to identify the genetic basis of Mendelian disorders that have proven intractable to conventional strategies. In this session, we will describe the progress as well as current challenges facing efforts to scale and accelerate the application of next-generation technologies to Mendelian disorders, e.g. the U.S.-based Mendelian Genome Centers as well as related international efforts. Topics that will be explored include primary research results from leading groups in this field; advances and ongoing challenges in phenotype curation, sequencing technology, and data analysis; and the broader implications of these efforts for biology and medicine. 9:40 AM Genomic approaches to Mendelian disorders. D. Valle. Johns Hopkins Univ. Sch. of Med. 9:55 AM FORGE Canada: A nation-wide effort to understand the genomics of childhood disorders. K. Boycott. Children s Hosp. of Eastern Ontario, Canada. 10:10 AM Current challenges in exome or genomebased analysis of Mendelian disorders. J. Shendure. Univ. of Washington. 10:40 AM Lessons from 500 diagnostic exomes. H. G. Brunner. Radboud Univ. Nijmegen Med. Ctr., Netherlands. 11:10 AM Genes, genomes and the future of medicine. R. Lifton. Yale Univ. Saturday, November 10 9:40 AM 11:40 AM Concurrent Invited Session III (73-80) SESSION 75 Emerging Applications of Identity by Descent Segment Detection Gateway Ballroom 104, Lower Level South, Moscone Center Moderators: Sharon R. Browning, Univ. of Washington; Brian L. Browning, Univ. of Washington Identity by descent (IBD) is fundamental to genetics and has diverse applications. Recently developed statistical methods and genome-wide SNP data have made it possible to detect haplotypes shared identically by descent between individuals with common ancestry up to generations ago. With sequence data, shared haplotypes from even more distant ancestry can be detected. Patterns of IBD segment sharing within and between populations reveal important population demographic features including recent effective population size and migration patterns. IBD segment sharing is directly relevant to disease gene mapping and estimation of heritability. Individuals who share a genetic basis for a trait are more likely to have IBD sharing compared to randomly chosen individuals, and this forms the basis for IBD mapping and heritability estimation. Analysis of data from extended pedigrees was extremely difficult with standard linkage approaches, but is now possible using approaches based on detected IBD segments. Detected IBD can be present across pedigrees, which enhances power to detect association with the trait. Further, in population samples there is potential to utilize detected IBD segments to improve power to detect association when multiple variants within a gene influence the trait. IBD segments can also be used to greatly improve haplotype phase estimates, which is critical to understanding the functional consequence of genetic variation. IBD-based longrange phasing has previously been shown to be effective in isolated populations such as Iceland, but recent advances have extended its application to large outbred populations. In this session, we explore these exciting new developments. 9:40 AM Sharing by descent, phasing, rare variants and population structure. A. Kong. decode Genet., Reykjavik, Iceland. 10:10 AM Length distributions of identity by descent reveal fine-scale demographic history. I. Pe er. Columbia Univ. 10:40 AM Identity by descent within and between pedigrees. E. A. Thompson. Univ. of Washington. 11:00 AM Using high resolution identity by descent: From detecting selection to explaining trait variability. M. Abney. Univ. of Chicago. 11:20 AM Extending the limits of IBD segment detection with sequence data and new statistical methods. B. L. Browning. Univ. of Washington. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

123 INVITED AND PLATFORM SESSIONS 121 Saturday, November 10 9:40 AM 11:40 AM Concurrent Invited Session III (73-80) SESSION 76 The Functional Consequences of microrna Dysregulation in Human Disease Room 134, Lower Level North, Moscone Center Moderators: Cheryl L. Thompson, Case Western Reserve Univ.; Ahmad Khalil, Case Western Reserve Univ. MicroRNAs (mirnas) are an evolutionarily conserved class of small non-coding RNAs that have been shown to regulate the expression levels of numerous proteincoding genes. Although integral to animal biology, their role in human disease has only recently been studied. Previously, numerous mirnas have been demonstrated to be dysregulated in multiple diseases, including cancer, cardiovascular disease, neurological disease and many others. However, the exact functions and mechanisms of these mirnas in human diseases are yet to be fully elucidated. A number of recent studies have now begun to shed light on the role of mirnas in disease, providing insights into mechanisms for imitation and progression of disease as well as targets for preventive and therapeutic intervention. In this session we have assembled a group of world leaders in the field of mirna and human diseases. The speakers will discuss their latest research on mirnas, which will cover a range of topics from targets of mirnas, animal models of mirna action as well as the role of circulating mirnas in diagnostics. 9:40 AM OncomiR-1 in cancer and development: A tale of mice and men. A. Ventura. Sloan-Kettering Inst. 10:10 AM microrna reprogramming in cancer: Mechanisms and consequences. J. Mendell. Univ. of Texas Southwestern Med. Ctr. 10:40 AM Exploring circulating mirnas as bloodbased diagnostic biomarkers. M. Shapero. Affymetrix, Santa Clara, CA. 11:10 AM Circulating micrornas in obesity and postmenopausal breast cancer. C. L. Thompson. Case Western Reserve Univ. Saturday, November 10 9:40 AM 11:40 AM Concurrent Invited Session III (73-80) SESSION 77 Centralizing the Deposition and Curation of Human Mutations Room 132, Lower Level North, Moscone Center Moderators: Robert L. Nussbaum, UCSF; David H. Ledbetter, Geisinger Hlth. Syst., Danville, PA Hundreds of thousands of disease-causing variants have been identified in patients with disease, yet only a small fraction of that data, and the interpretation of it, is accessible to researchers and clinicians. The centralization of data on human genomic variation is a critical step in accelerating advances within the field of genomic medicine. Such centralization of variant data will not only enable more efficient approaches to data analysis, but will also ensure the use of a uniform set of standards across the many communities contributing data and intending to use the resources for research and clinical applications. This session will highlight groups that have recently joined efforts to solve this challenge and create a free and useful human genomic mutation database for the community. 9:40 AM Improving the accuracy of variant identification. D. Church. NLM/NIH. 10:10 AM The ISCA Consortium: Standardization and sharing of structural variation data. C. L. Martin. Emory Univ. Sch. of Med. 10:40 AM Introducing ClinVar. D. Maglott. NCBI, NLM/NIH. 11:10 AM Community involvement in centralized mutation curation. H. L. Rehm. Harvard Med. Sch. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

124 122 INVITED AND PLATFORM SESSIONS Saturday, November 10 9:40 AM 11:40 AM Concurrent Invited Session III (73-80) SESSION 78 Stem Cells and Personalized Medicine Room 135, Lower Level North, Moscone Center Moderator: Stephen H. Tsang, Columbia Univ. Speakers will discuss applications of patient-specific and disease-specific stem cell lines, including disease modeling, drug screening, and regenerative medicine. Panelists will bring experience in clinical genetics, genetic manipulation in stem cells, and disease modeling. The FDA has recently approved phase I/II clinical trials to investigate the safety and efficacy of embryonic stem cell-based retinal cell transplantation, but such therapy requires immunosuppression. Patient-specific stem cells may offer an alternative to embryonic stem cells that will skirt the need for immunosuppressive therapy as well as the social and political ramifications of embryonic stem cell research, but their utility even extends far beyond such groundbreaking advances. 9:40 AM Stem cells and personalized medicine in retinal degenerations. S. H. Tsang. Columbia Univ. 10:10 AM Direct reprogramming to generate patient-specific stem cells and neurons. M. Wernig. Stanford Sch. of Med. 10:40 AM A chemical approach to controlling cell fate. S. Ding. UCSF. 11:10 AM Patient-specific stem cells and cardiovascular genetics. B. Conklin. UCSF. Saturday, November 10 9:40 AM 11:40 AM Concurrent Invited Session III (73-80) SESSION 79 Should Noninvasive Prenatal Diagnosis Augment or Replace Current Prenatal Screening and Diagnosis? Room 124, Lower Level North, Moscone Center Moderators: Mark E. Nunes, Kaiser Permanente, San Diego; Mildred K. Cho, Stanford Univ. The discovery of circulating cell-free fetal nucleic acid (cffdna) in maternal blood plasma in 1997 allowed for the development of noninvasive prenatal diagnosis (NIPD) offered commercially in a medical setting in North America beginning in October From the initial discovery, ethical issues were raised in that the method could most easily be validated seeking circulating Y chromosome transcripts. The method subsequently has been validated for fetal Rh typing and fetal aneuploidy, but the next-generation sequencing methods used to analyze cffdna allow any Mendelian trait or disorder with a known gene to be detected by the method. This technology convergence, coupled with the test being offered at 10-weeks gestation, could provide a level of access and choice in women s reproductive decision making unprecedented since the introduction of oral contraception. We will briefly introduce the topic, and then debate the ethical, legal, and social issues of broadening the scope and availability of NIPD. The technique will be placed in the context of the history of seeking fetal markers and cells in maternal circulation. The ethical context will be outlined, with competing issues of autonomy and societal interest. The legal context, within the current debate surrounding reproductive freedom, will be discussed. The possible impact on society and medical practice will be described. 9:40 AM Lessons from the clinical introduction of noninvasive prenatal diagnosis: How we got here. A. T. Bombard. Sequenom Inc., San Diego. 10:05 AM Cell-free fetal DNA in prenatal diagnosis: Where we are going? D. Bianchi. Tufts Univ., Boston. 10:30 AM Academia and industry in the development of noninvasive prenatal diagnosis. M. K. Cho. Stanford Univ. 10:55 AM Ethical and policy implications of early noninvasive prenatal diagnosis. J. S. King. UC Hastings Col. of the Law, San Francisco. 11:20 AM Discussion. M. E. Nunes. Kaiser Permanente, San Diego. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

125 INVITED AND PLATFORM SESSIONS 123 Saturday, November 10 9:40 AM 11:40 AM Concurrent Invited Session III (73-80) SESSION 80 Selection Signatures and the Genetics of Autoimmunity and Infectious Diseases Room 130, Lower Level North, Moscone Center Moderators: Judy H. Cho, Yale Univ.; Richard A. Spritz, Univ. of Colorado Denver Anschutz Med. Campus The overlap of autoimmune and infectious disease loci is one of the seminal findings of the GWAS era. The presence of a relatively limited and recurring number of major autoimmune and infectious diseaseassociated genes and pathways may well correspond with functional networks that evolved in response to historically significant infectious pathogens. It may be speculated that the plethora of common functional polymorphisms identified through GWAS in autoimmune diseases evolved through positive selection; in subsequent eras and environmental conditions, these once beneficial polymorphisms confer increased susceptibility to autoimmunity. Support for this concept is provided by the observation that uncommon, often highly penetrant, mutations in overlapping genes and pathways are associated in infectious diseases such as severe mycobacterial infections. Predictive functional networks may be optimized by integration of complementary data sources, notably selection signatures. Novel approaches of identifying signatures of positive selection at single and multiple loci will require integration of genetic association data with biologic data that optimally models relevant selection conditions. 9:40 AM Genetics and Autoimmunity. J. H. Cho. Yale Univ AM The genetics of autoimmunity. R. A. Spritz. Univ. of Colorado Denver. 10:10 AM Selection signatures and mechanisms of host-microbe interactions. P. Sabeti. Harvard Univ. 10:40 AM Interactions of HLA class I with killer-cell immunoglobulin-like receptors: Influences on human disease. P. Parham. Stanford Univ. 11:10 AM Toward a genetic theory of infectious diseases. J.-L. Casanova. Rockefeller Univ. INVITED AND PLATFORM SESSIONS Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

126 124 INVITED AND PLATFORM SESSIONS Saturday, November 10 12:00 NOON 1:00 PM SESSION 81 Closing Plenary: Human Genetics 2012 and Beyond: Present Progress and Future Frontiers Hall D, Lower Level North, Moscone Center Moderator: Joel N. Hirschhorn, 2012 Program Committee Chair Boston Children s Hosp., Harvard Med. Sch. and Broad Inst. Presenter: Chris Gunter, HudsonAlpha Inst. for Biotechnol. Panelists: Han Brunner Radboud Univ. Nijmegen Jay Shendure Univ. of Washington Dian Donnai Univ. of Manchester Lynn Jorde Univ. of Utah An outstanding panel of expert human geneticists with varying perspectives will make will make brief presentations and then participate in a wide-ranging discussion on the most exciting advances and important upcoming challenges in their areas of human genetics. Topics will be driven by questions from the panelists and the audience, but will include many of the following perspectives: The importance of education for the public, scientists, and clinicians The impact of new technology on human genetics and genomics Advances that define biological mechanisms Challenges of interpretation of exome and genome sequencing Translation of advances into clinical care During the course of the 62nd Annual Meeting, registrants are encouraged to post their thoughts on scientific or clinical advances they have heard about at the meeting, and on upcoming important challenges in human genetics, via ASHG s social media outlets (Twitter, Facebook). Twitter: Use hashtag #ASHG2012 Facebook: You can also address your comments through Twitter directly to Chris during the meeting. Posts by meeting participants will be followed and summarized at the beginning of the session by Chris Gunter, 2012 Program Committee Member. After the brief presentations by the panelists, there will be opportunities for audience members to ask questions of one or more panel members. At the conclusion of the session, the moderator will provide a brief summary, and the meeting will be adjourned by the 2012 President, Mary-Claire King. Hal Dietz Johns Hopkins Univ. Taking photographs or sound recordings in all meeting rooms is strictly prohibited. Thank you for your cooperation.

127 POSTER SESSIONS 125 POSTER SESSIONS Moscone Center, Exhibit Hall, Lower Level South The program and abstract/poster board number next to each listing is followed by a W (Wednesday), or T (Thursday), or F (Friday) to indicate the day on which authors must be present at their poster boards. To encourage discussion and to facilitate the exchange of information, posters are sorted by related topics. Refer to the schedule below for presentation times and for the poster mounting/removal schedule. Posters should remain up all three days. Wednesday, November 7 10:00 am 10:30 am Authors place posters on boards. Posters should remain up for all three days 10:00 am 4:30 pm Posters open for viewing 2:15 pm 4:15 pm Poster Session I (W) 2:15 pm 3:15 pm (odd poster board numbers; author must be present) 3:15 pm 4:15 pm (even poster board numbers; author must be present) POSTER SESSIONS Thursday, November 8 7:00 am 4:30 pm Posters open for viewing 2:15 pm 4:15 pm Poster Session II (T) 2:15 pm 3:15 pm (odd poster board numbers; author must be present) 3:15 pm 4:15 pm (even poster board numbers; author must be present) Friday, November 9 7:00 am 4:30 pm Posters open for viewing 2:15 pm 4:15 pm Poster Session III (F) 2:15 pm 3:15 pm (odd poster board numbers; author must be present) 3:15 pm 4:15 pm (even poster board numbers; author must be present) 4:15 pm 4:30 pm Authors must remove posters 4:30 pm Exhibit Hall and Posters closed NOTE: For safety reasons, no registrant will be admitted into the Exhibit Hall or poster area for any reason after 4:30 pm on Friday. No exceptions can be made to this policy. IMPORTANT: Do not leave materials or belongings under poster boards or in the poster area. ASHG is not responsible for any articles left in the poster area or any other area.

128 126 POSTER SESSIONS Overview of Poster Schedule The program number and the abstract/poster board number are one and the same. It appears in bold print followed by the letter W (Wednesday), T (Thursday) or F (Friday). The title and author names follow. The first author listed is the presenting author. Please check the addendum for author changes or cancellations. Abstract/Poster Board Numbers Session Topic/Title Page Genome Structure, Variation and Function Pharmacogenetics Metabolic Disorders Therapy for Genetic Disorders Development Cytogenetics Cancer Genetics Statistical Genetics and Genetic Epidemiology Cardiovascular Genetics Genetic Counseling and Clinical Testing Ethical, Legal, Social and Policy Issues in Genetics Genetics Education Health Services Research Complex Traits and Polygenic Disorders Psychiatric Genetics, Neurogenetics and Neurodegeneration Molecular Basis of Mendelian Disorders Prenatal, Perinatal and Reproductive Genetics Clinical Genetics and Dysmorphology Evolutionary and Population Genetics Epigenetics Bioinformatics and Genomic Technology

129 POSTER SESSIONS 127 Genome Structure, Variation and Function 412W Capture of chromosome conformation changes in breast cancer cell lines. C. Liu, C. Woo, P. Yim, S. Dong, J. Stevens. 413F Myc-induced anchorage of the rdna intergenic spacer region to nucleolar matrix modulates growthstimulated changes in higher-order rdna architecture. C. Shiue, A. Nematollahi-Mahani, A. Wright. 414W CENcode: Linear assembly and epigenetic annotation of human centromeres. K. E. Hayden, J. Kent. 415F Impact of genetic variation on genome-wide epigenetic profiles and gene expression phenotypes. A. Reymond, H. Kilpinen, S. Waszak, A. Gschwind, E. Migliavacca, R. M. Witwicki, S. Raghav, A. Orioli, L. Romano-Palumbo, M. Wiederkehr, S. Turnherr, D. Hacker, M. Gutierrez-Arcelus, L. J. Core, J. T. Lis, N. Hernandez, B. Deplancke, E. T. Dermitzakis. 423F The use of matepair sequencing in the detection of structural variation in patients with ID and/or congenital anomalies. S. Vergult, E. Van Binsbergen, T. Sante, S. Nowak, O. Vanakker, S. Janssens, K. Claes, B. Poppe, N. Van der Aa, F. Roelens, A. De Paepe, F. Speleman, E. Cuppen, W. Kloosterman, B. Menten. 424W At the crossroads of structure and function: SNP genotypes indexed by copy number yield novel eqtls. L. K. Davis, E. R. Gamazon, N. J. Cox. 425F Extensive genetic variation in somatic human tissues. M. O Huallachain, K. J. Karczewski, S. Weissman, A. E. Urban, M. Snyder. 426W Copy number variations in a cohort of Brazilian sickle cell anemia patients with and without cerebrovascular accident. G. Ananina, F. Menaa, M. A. Bezerra, A. S. Araujo, P. R. S. Cruz, G. P. Gil, F. F. Costa, M. B. Melo. 427F Prevalence and effects of the obesity associated deletion on chromosome 16p11.2 in the Swedish Obese Subjects study. J. C. Andersson-Assarsson, S. Romeo, L. Sjöström, L. M. S. Carlsson. POSTER SESSIONS 416W Capturing long-range chromatin interactions of chromatin regulatory elements. N. Heidari, D. H. Phanstiel, W. Soon, M. P. Snyder. 417F PRDM9 directs genetic recombination away from functional genomic elements. K. Brick, F. Smagulova, P. Khil, R. D. Camerini-Otero, G. Petukhova. 418W ATRX interacts with the MRN complex to play a key role in the replication of non-canonical DNA structures associated with tandem repeats. R. Gibbons, D. Clynes, C. Jelinska, H. Ayyub, D. R. Higgs. 419F Genome-wide copy number variation analysis of a branchio-oto-renal syndrome cohort identifies a recombination hotspot associated with an EYA1 deletion and novel candidate genomic regions. F. Alasti, P. Brophy, B. Darbro, J. Dierdorff, C. Nishimura, B. Cobb, J. Clarke, M. Hakeman, A. Bassuk, R. J. H. Smith, J. R. Manak. 420W Delineation of the reliability of in silico copy number variation calls from different Illumina SNP arrays. S. Herms, L. Priebe, F. Degenhardt, M. M. Noethen, S. Cichon, P. Hoffmann. 421F The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Detecting copy number variation in a multiethnic cohort of 100,000. C. Sabatti, Z. Zhang, Y. Banda, M. Kvale, T. Hoffman, S. Hesselson, H. Tang, P.-Y. Kwok, C. Schaefer, N. Risch. 422W Genomic copy number variation affects brain structure volumes in schizophrenia. T. H. Wassink, J. Manak, D. Rudd, E. Epping, F. Fleming, G. Zeien, S. Ziebell, B. C. Ho, N. C. Andreasen. 428W Molecular study of the inverted repeats responsible for triplication of the PLP1 locus. C. R. Beck, C. M. B. Carvalho, J. R. Lupski. 429F Novel sequence-based CNV detection framework allows fine-mapping of the CFH region in 150 Chinese Singaporeans with age-related macular degeneration. E. Bellos, L. Coin, T. Y. Wong, C. Y. Cheng, G. Cheung, M. Hibberd, V. Kumar, S. Davila. 430W Incidental copy-number variants identified by routine genome testing in a clinical population. P. M. Boone, Z. T. Soens, I. M. Campbell, P. Stankiewicz, S. W. Cheung, A. Patel, A. L. Beaudet, S. E. Plon, C. A. Shaw, A. L. McGuire, J. R. Lupski. 431F Parental age and burden of genomic copy number variation. J. Buizer-Voskamp, H. M. Blauw, M. P. M. Boks, K. R. Van Eijk, J. H. Veldink, E. A. M. Hennekam, J. A. S. Vorstman, F. Mulder, H. Tiemeier, A. G. Uitterlinden, L. A. Kiemeney, L. H. Van den Berg, R. S. Kahn, C. Sabatti, R. A. Ophoff. 432W Genome-wide analyses of recurrent genomic rearrangements: Identification of three novel genomic disorders. P. Dittwald, T. Gambin, P. Szafranski, J. Li, R. S. Amato, M. Divon, K. Maliszewski, E. E. Dolgado Bohorquez, L. Elton, A. C.-H. Tsai, D. Scott, S.-H. L. Kang, A. M. Breman, S. R. Lalani, C. Bacino, W. Bi, A. Milosavljevic, J. R. Lupski, A. L. Beaudet, C. A. Shaw, A. Patel, A. Gambin, S. W. Cheung, P. Stankiewicz. 433F DUF1220 domain copy number loss implicated in 1q21-associated microcephaly. L. Dumas, M. O Bleness, J. Davis, C. M. Dickens, N. Anderson, J. G. Keeney, J. Jackson, M. Sikela, A. Raznahan, J. Giedd, J. Rapoport, S. S. C. Nagamani, A. Erez, N. Brunetti-Pierri, R. Sugalski, J. R. Lupski, T. Fingerlin, S. W. Cheung, J. M. Sikela. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

130 128 POSTER SESSIONS 434W Age-related somatic structural changes in the nuclear genome of human blood cells. L. A. Forsberg, C. Rasi, H. R. Razzaghian, G. Pakalapati, L. Waite, K. S. Thilbeault, A. Ronowicz, N. E. Wineinger, H. K. Tiwari, D. Boomsma, M. P. Westerman, J. R. Harris, R. Lyle, M. Essand, F. Eriksson, T. L. Assimes, C. Iribarren, E. Strachan, T. P. O Hanlon, L. G. Rider, F. W. Miller, V. Giedraitis, L. Lannfelt, M. Ingelsson, A. Piotrowski, N. L. Pedersen, D. Absher, J. P. Dumanski. 435F Genome-wide scan of common copy number variant regions in post-traumatic stress disorder. G. Guffanti, A. Aiello, M. Uddin, D. Wildman, S. Galea, K. Koenen. 436W Genetic variation among somatic cells revealed by single nucleus sequencing. I. M. Hall, M. L. Lindberg, J. Piper, K. J. Brennand, F. H. Gage, M. J. McConnell. 437F Structural haplotypes and recent evolution of the human 17q21.31 locus. R. E. Handsaker, L. M. Boettger, M. C. Zody, S. A. McCarroll. 438W Population genetics of haptoglobin and haptoglobin-related protein: 50 years of human copy number variation. E. Hollox, A. Menard, F. Yang, B. Fu, M. Sironi, R. Hardwick. 439F Microduplication in 5p15.33 including CLPMT1L and TERT genes identified in a patient with cleft lip and palate, cardiopathy and urogenital abnormalities. G. Izzo, E. L. Freitas, A. C. V. Krepischi, D. R. Bertola, M. R. Passos-Bueno, C. Rosenberg. 440W Integration of microarray and NGS generated data for copy number analysis. R. Keshavan, S. Verma, S. Shams. 441F Comparative performance of three algorithms in detecting CNV associated with obesity and nonalcoholic fatty liver disease. W. Li, J. Littrell, S. Gawrieh, M. Olivier. 442W Increased rate of rare genic copy number variants in Parkinson s disease among Ashkenazi Jews. X. Liu, C. Cheng, S. Kisselev, H. Mejia-Santana, E. Louis, L. Cote, H. Andrews, C. Waters, B. Ford, S. Frucht, S. Fahn, K. Marder, J. Lee, L. Clark. 443F A map of copy number variation in admixed populations in Xinjiang. H. Lou, S. Li, R. Fu, X. Pan, L. Jin, S. Xu. 444W Human CNVs and ultraconserved elements: A rapid progression to mutual exclusivity. R. B. McCole, C. Y. Fonseka, C.-T. Wu. 445F Prediction of 3551 human haploinsufficient genes. S. Meader, F. Honti, C. Webber. 446W Prioritization of copy number variation loci associated with autism from AutDB: An integrative multi-study genetic database. I. Menashe, E. C. Larsen, S. Banerjee-Basu. 447F Copy number variant analysis in a deeply phenotyped cohort of individuals with intellectual disability. E. Mercier, Y. Qiao, J. Gillis, S. Lewis, E. Separovic, P. Pavlidis. 448W A novel susceptibility gene, UGT2B17, is associated with familial ankylosing spondylitis. D. O Rielly, M. Uddin, R. Inman, D. Gladman, W. Maksymowych, R. Yazdani, P. Rahman. 449F Evolution of copy number variation in the rhesus macaque b-defensin region. B. Ottolini, T. Schwarzacher, C. L. Bevins, J. V. Solnick, G. Doxiadis, E. J. Hollox. 450W Characterization of copy number variation involving the salivary agglutinin gene DMBT1. S. Polley, D. Hains, E. Hollox. 451F Single exon deletion in PCCA gene in patient with propionic acidemia highlights challenges to clinical whole exome CNV analysis. G. Scharer, G. Creadon- Swindell, E. Spector, C. Coughlin, T. Shaikh. 452W Identifying autism loci using homozygosity analysis and copy number variation analysis. K. E. Schmitz-Abe, T. W. Yu, T. K. Kim, R. S. Hill, E. M. Morrow, M. E. Greenberg, K. Markianos, C. A. Walsh. 453F Rare exonic deletions contribute to autoimmune diabetes susceptibility. C. Shtir, D. Smith, H. Guo, J. Barrett, M. Hurles, N. Walker, V. Plagnol, J. Cooper, J. Howson, O. Burren, S. Rich, J. Todd. 454W An atypical microduplication overlapping the C2orf27A gene at 2q21.1 co-segregates with Tourette syndrome in a three generation family. M. Uddin, D. D. O Reilly, P. Rahman, T. R. Purchase, H. White, S. Luscombe, S. J. Moore, T. L. Young, K. A. Hodgkinson. 455F Detection of copy number variation from exomes in the DDD and UK10K projects. P. Vijayarangakannan, T. Fitzgerald, C. Joyce, S. McCarthy, M. Hurles, DDD and UK10K Projects. 456W Alterations in RBFOX1: Real finding or red herring? L. Walters, A. Bailes, L. Erdman, A. McKinney, S. Ramsey, C. Weber, S. Hashimoto, L. Lamb Thrush, J. Atkin, G. Herman, S. Hickey, K. Manickam, C. Crowe, S. Thomas, C. Astbury, J. Gastier-Foster, S. Reshmi, R. E. Pyatt. 457F Analyses of copy number variation reveal putative susceptibility loci in MTX-induced mouse neural tube defects. J.-H. Wang, X.-W. Wang, T. Guan, Q. Xiang, M.-S. Wang, Z. Zhang, Z. Guan, G.-L. Wang, Z.-Q. Zhu, Q. Xe, G.-N. Li, J. Guo, F. Wang, Z.-G. Wang, B. Niu, T. Zhang. 458W Large range of copy number variation for human alpha-defensin genes DEFA1 and DEFA3: Lower copy number is a risk factor for autoimmune diseases. H. Wang, B. Zhou, Y. L. Wu, S. Bowden, R. Hoffman, J. Ahearn, D. Birmingham, B. Rovin, L. Hebert, A. Schwaderer, D. Hains, C. Y. Yu. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

131 POSTER SESSIONS F Analysis of structural variation in the Genome of the Netherlands project. K. Ye, V. Guryev, W. Kloosterman, L. Francioli, J. Y. Hehir-Kwa, E. Lameijer, A. Abdellaoui, J. de Ligt, V. Koval, N. Amin, F. van Dijk, L. C. Karssen, H. Mei, Genome of the Netherlands Consortium. 460W Copy number variation of the Y chromosome in autism spectrum disorder. R. K. Yuen, E. Kolomietz, M. Vlasschaert, A. Merkoulovitch, J. R. MacDonald, C. R. Marshall, S. W. Scherer. 461F Novel method of CNV analysis in FcgR locus and its application to immune-related diseases. A. Zhernakova, L. Franke, A. Ioan, G. Trynka, K. Fransen, R. Weersma, S. Rantapää-Dahlqvist, P. Gregersen, C. Wijmenga, T. Huizinga, R. Toes. 462W An improved diagnostic workflow using SNP arrays reveals novel insights into CNVs in mental retardation. X. Zhou, J. M. Wang, B. Wang, J. Wang, T. Ji, X. Zhang, X. Ma, Y. Jiang. 463F Copy number variation in autism spectrum disorders. B. Sheppard, C. Ladd-Acosta, B. K. Lee, J. Bonner, G. Windham, L. Schieve, L. Croen, A. Reynolds, D. Schendel, C. Newschaffer, M. D. Fallin. 464W Understanding revisions to the human reference genome and assembly model. D. Church, P. Flicek, T. Graves, T. Hubbard, V. Schneider, The Genome Reference Consortium. 465F Evolutionary history and genome organization of DUF1220 protein domains. M. O Bleness, C. M. Dickens, D. Albracht, H. Kotkiewicz, T. Graves, R. Wilson, J. Sikela. 466W Retrotransposition of gene transcripts leads to structural variation in mammalian genomes. A. D. Ewing, T. Ballinger, D. Earl, D. Haussler. 467F Whole genome sequencing of ips cells reveals somatic mutation arising at latest stages of reprogramming. M. Cortes, J. S. Seo. 473F A complex rearrangement of the OCA2 gene in two unrelated albino patients. B. Arveiler, E. Lasseaux, D. Cailley, M. L. Vuillaume, C. Rooryck, A. Rouault, J. Toutain, D. Lacombe, F. Morice-Picard. 474W A four base pair insertion in WNT16a identified through exome sequencing is associated with type 2 diabetes. L. Been, M. Fortner, E. Howard, M. Lerner, D. Brackett, D. Sanghera. 475F Obstetric complication-associated ANXA5 promoter polymorphisms affect gene expression via DNA secondary structures. H. Inagaki, S. Ota, H. Nishizawa, H. Miyamura, K. Nakahira, M. Suzuki, S. Nishiyama, Y. Udagawa, I. Yanagihara, H. Kurahashi. 476W The influence of genomic context on mutation patterns inferred from extremely rare variants. V. M. Schaibley, M. Zawistowski, D. Wegmann, D. Kessner, M. G. Ehm, M. R. Nelson, P. L. St. Jean, G. Abecasis, J. Novembre, S. Zöllner, J. Z. Li. 477F Sequencing the unsequenceable: Expanded CGG repeats in the human FMR1 gene. P. Hagerman, J. Eid, P. Peluso, D. Rank, J. Yin, L. Hickey, E. Loomis. 478W Three novel NR5A1 gene mutations in patients with 46,XY karyotype and disorders of sex development. H. C. Fabbri, J. G. Andrade, A. T. Maciel- Guerra, G. Guerra-Junior, M. P. de Mello. 479F A deletion and a novel nonsense SRY mutation in 46,XY Brazilian patients with disorder of sex development. C. S. C. Piveta, B. P. B. Araújo, P. D. Pereira, F. B. Coeli-Lacchini, A. T. Maciel-Guerra, G. Guerra-Junior, I. L. Monlleó, M. P. de Mello. 480W Whole genome sequencing in autism identifies hotspots for germline mutation. J. Michaelson, H. Zheng, M. Gujral, Y. Shi, D. Malhotra, X. Jin, D. Greer, A. Bhandari, R. Corominas, A. Peoples, A. Koren, S. McCarroll, L. Iakoucheva, Y. Li, J. Wang, J. Sebat. 481F Molecular basis of male infertility: An Indian perspective. H. Sharma, R. Prasad, R. Mohan, S. K. Singh. POSTER SESSIONS 468W Possible genomic impact of SVA retrotransposon in humans similar to that in gibbons. T. Hara, Y. Hirai, H. Hirai, A. Koga. 469F Functional studies of tandem repeat variation in the human genome using multiplexed capture and high-throughput sequencing. A. Guilmatre, G. Highnam, D. Mittelman, A. J. Sharp. 470W Meta-analysis with dbgap data on genome-wide association studies for Alzheimer s disease. J. H. Kim. 471F A survey of the mutational load in genes associated with rare Mendelian disorders and autism. A. R. Rao, S. F. Nelson. 472W Inferring mechanisms of indel mutation from whole genome sequence. I. H. C. Turner, Z. Iqbal, G. McVean. 482W Phase-defined complete HLA genotyping by amplicon sequencing and read-backed phasing. K. Hosomichi, T. Hayano, I. Inoue. 483F Characterization of sequence variants from the first direct-to-consumer exome pilot project. A. Shmygelska, E. Harrington, C. McLean, A. Chowdry, B. Naughton. 484W Targeted sequencing applications and project design. R. Fulton. 485F Inverted low-copy repeats and genome instability: A genome-wide analysis. T. Gambin, P. Dittwald, C. Gonzaga-Jauregui, C. M. B. Carvalho, J. R. Lupski, A. Gambin, P. Stankiewicz. 486W DNA from 1D to 3D: Effect of single nucleotide change on DNA conformational structure. P. W. Yim, C. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

132 130 POSTER SESSIONS Liu, C. Woo, Y. Shi, J. Stevens, S. Dong. 487F Analysis of dinucleotide mutation rates and composition of human genome. G. Zhang, D. W. Nebert. 488W The L141R and G153D variations associated with exfoliation glaucoma do not affect enzymatic functions of the lysyl oxidase-like protein 1. Y. Kim, S. Kim. 489F Exploration of HIV susceptibility by exome sequencing. S. Liu, W. Scott, D. Dykxhoorn. 490W Linkage disequilibrium analysis of polymorphisms of FRAS1 related extracellular matrix 1 (FREM1). J. F. Tuff, N. Kaplonski, V. Ly, B. Liang, S. Tyler, F. A. Plummer, M. Luo. 491F Exome sequencing of subjects with familial 1q21.1 CNV and variable phenotype. C. Harvard, F. Mo, F. Tang, Y. Qiao, S. Hamilton, S. Marles, B. McGillivary, C. Colins, M. E. S. Lewis, P. Pavlidis, E. Rajcan-Separovic. 492W Deep resequencing of the NOS2 gene suggests multiple potential mechanisms underlying the association of several complex diseases with a common synonymous SNP. L. Wang, J. Santos, A. Dressen, A. Mehta, M. Pericak-Vance, J. Vance, W. Scott. 493F Characteristics and analysis of exonic SNPs and indels discovered by low-pass and exome sequencing. J. Schmidt, J. Gollub, J. Barts, C. Davies, B. Wong, R. Shigeta, G. Hsiao, M. Nitzberg, E. Shell, J. Peete, S. Hsu, A. Kohli, T. Ha, D. Brown, L. Bellon, T. Webster. 494W Somatic mosaicism in the blood compartment of a 115-year-old woman. H. Holstege, D. Sie, W. Pfeiffer, T. Nicholas, M. A. Miller, T. Harkins, C. Lee, T. Ross, B. Ylstra, H. Meijers-Heijboer, M. Reinders, G. Holstege, E. Sistermans, S. Levy. 495F High-resolution melting analysis of STAT3 involved in autosomal dominant hyper IgE syndrome using bulge-inducing primers to eliminate polymorphisms and snapback primers for genotyping. M. T. Seipp, N. H. Augustine, A. Kumanovics, H. R. Hill, C. T. Wittwer. 496W PON-P: Integrated predictor for pathogenicity of missense variants. M. Vihinen, A. Olatubosun, J. Väliaho, J. Härkönen, J. Thusberg. 497F Data submissions to EBI variation archives. I. Lappalainen, V. Kumanduri, J. Almeida-King, L. Skipper, J. D. Spalding, M. Maguire, P. Flicek. 498W The power of large numbers: frequencies of rare pathogenic mutations in the 23andMe database. E. R. Chang, D. A. Hinds, N. Eriksson, J. M. Macpherson, C. B. Do, B. T. Naughton. 499F Finding from CAGI: The Critical Assessment of Genome Interpretation, a community experiment to evaluate phenotype prediction. S. Brenner, S. Repo, J. Moult, CAGI Participants. 500W Polymorphic regulation of gene expression by the histone demethylase KDM4C. B. L. Gregory, V. G. Cheung. 501F Mitochondrial sequence variation in twins. Y. Bouhlal, S. Martinez, H. Gong, K. Dumas, J. T. C. Shieh. 502W Polymorphisms in primer binding site affect genotyping accuracy of FCGR2B rs in Caucasians. J. M. Reynolds. 503F Identification of rare variants contributing to pain sensitivity in the normal population: an exome sequencing study. B. Zhang, F. M. K. Williams, S. Scollen, D. Coa, Y. Memari, C. Hyde, Y. Shi, J. Harris, I. Harrow, A. Malarstig, B. Dougherty, R. McEwen, J. C. Stephens, K. Patel, C. Menni, D. Hodgkiss, G. Surdulescu, W. He, B. Sidders, D. Ziemek, N. Soranzo, X. Jin, S. B. McMahon, S. L. John, J. Wang, T. D. Spector. 504W Discovering retrotransposon insertion polymorphisms associated with human phenotypes by TIP-chip. T. D. Babatz, D. Avramopoulos, J. D. Boeke, K. H. Burns. 505F Fork stalling and template switching mechanism generates a novel rearrangement associated with incontinentia pigmenti. M. I. Conte, S. Raimo, M. Paciolla, A. Pescatore, E. Esposito, M. G. Miano, F. Fusco, M. V. Ursini. 506W The ENCODE effort combining RNA-seq and RT-PCR-seq allows to catalog thousands of novel lncrnas. C. Howald, A. Tanzer, J. Chrast, F. Kokocinski, T. Derrien, N. Walters, J. Manuel Gonzalez, A. Frankish, B. L. Aken, T. Hourlier, J. Vogel, S. White, S. M. J. Searle, J. Harrow, T. Hubbard, R. Guigò, A. Reymond. 507F Evolution of microrna-3 UTR interactions and their impact on whole transcriptome regulation. A. Z. Pietrzykowski, E. Kruse, N. Kinstlinger, L. Tejeda, S. Hamza, Y. Wang. 508W Let-7 coordinately downregulates genes on the amino acid sensing pathway to repress mtor and activate neuronal autophagy. A. N. Dubinsky, S. Djakovic, R. Zahra, C. Hsu, B. E. Morrison, A. R. La Spada. 509F Deep sequencing of hypoxic breast cancer reveals deregulation of non-coding RNAs, non ploy-a RNAs and natural anti-sense transcripts. H. Choudhri, C. Camps, J. Shoedel, S. Oikonomopoulos, L. Winchester, F. Buffa, D. Moralli, E. Volpi, P. Ratcliffe, A. Harris, D. Mole, J. Ragoussis. 510W Integrative annotation and functional characterization of human long non-coding RNAs in bladder cancer. W. Tang, L. Prokunina-Olsson. 511F microrna-xx regulates vascular smooth muscle cell phenotypes and prevents neointimal formation. Y. Wang, H. Wang, Y. Liao, P. Tsai, K. Chen, H. Cheng, R. Lin, S. Juo. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

133 POSTER SESSIONS W Comparative analysis of strand-specific RNA sequencing approaches. D. Munafo, P. Liu, C. Sumner, L. Apone, B. Langhorst, E. Yigit, L. Merrill, F. Stewart, E. Dimalanta, T. Davis. 513F micrornas modulating the expression of FMR1 mrna: Implications in the pathophysiology of FXTAS. S. Zongaro, R. Hukema, L. Davidovic, S. D Antoni, M. V. Catania, R. Willemsen, B. Mari, B. Bardoni. 514W Dysfunction of mirnas biogenesis in association with neuronal differentiation in focal cortical dysplasia. S. H. Avansini, F. R. Torres, D. B. Dogini, F. Rogério, A. C. Coan, R. Secolin, C. S. Rocha, A. F. Costa, A. L. F. Costa, A. C. S. Piaza, L. A. M. Reis, E. P. L. Oliveira, H. Tedeschi, L. S. Queiroz, F. Cendes, I. Lopes-Cendes. 515F Genome-wide mirna signatures of human longevity. A. ElSharawy, A. Keller, F. Flachsbart, A. Wendschlag, G. Jacobs, N. Kefer, T. Brefort, P. Leidinger, C. Backes, E. Meese, S. Schreiber, P. Rosenstiel, A. Franke, A. Nebel. 516W Peripheral blood mononuclear cells micrornas predict treatment outcome of chronic hepatitis C. E. Hsi, C. Huang, M. Yu, C. Dai, S. Juo, C. Chou, J. Huang, W. Chuang. 525F The genetic basis of human drug response variation. M. Kaganovich, D. Spacek, M. Snyder. 526W Dietary protein regulates gene expression of amino acid-degrading enzymes through PPARa. A. V. Contreras, C. Rangel, V. Ortiz, G. Aleman, B. Palacios, E. Tejero, N. Torres, A. R. Tovar. 527F Patterns of allele-specific gene expression in ten human tissues. K. R. Kukurba, T. Nance, R. Piskol, M. H. Tan, J. B. Li, S. B. Montgomery. 528W Gene expression variation in the response of human monocyte-derived dendritic cells to LPS and influenza dns1 stimulation. M. N. Lee, C. Ye, A. C. Villani, W. Li, P. I. Chipendo, M. H. Lee, P. L. De Jager, C. O. Benoist, A. Regev, N. Hacohen. 529F Gene expression profiling in a large cohort of Europeans with Sjögren s syndrome reveals viral, immune, and interferon-related pathways. J. A. Ice, H. Li, J. A. Kelly, I. Adrianto, S. B. Glenn, K. S. Hefner, E. S. Vista, D. U. Stone, R. Gopalakrishnan, G. D. Houston, D. M. Lewis, M. D. Rohrer, P. Hughes, J. B. Harley, C. G. Montgomery, J. Chodosh, J. A. Lessard, J.-M. Anaya, B. M. Segal, N. L. Rhodus, L. Radfar, M. B. Frank, R. H. Scofield, C. J. Lessard, K. Moser Sivils. POSTER SESSIONS 517F Copy number variation of mirna in individuals with intellectual disability. Y. Qiao, C. Harvard, E. Mercier, S. Lewis, P. Pavlidis, E. Rajcan-Separovic. 518W Novel human variation in micrornas associated with disease, biomarkers, and drug metabolism. R. Afi Rawlings-Goss, S. Tishkoff. 519F The tale about MIR147B regulate catalase AEI by one SNP in the 5 - UTR. Z. Wang, B. Wang, K. Zhang, L. Jin, W. Huang. 520W Inactivation of the mir-183/96/182 cluster results in syndromic retinal degeneration: The mir-183/96/182 cluster is required for normal function of the retina and other sensory organs. S. Xu, S. Lumayag, C. Haldin, C. Cowan, B. Kovacs, P. Larsen, D. Valle, P. D. Witmer. 521F microrna analysis in human ocular scleral tissue. T. Young, X. Luo, F. Hawthorne, S. Feng, P. Gonzalez. 522W Founder mutation in a transposable element leads to the identification of a long noncoding RNA in a progressive infantile encephalopathy. A. Henrion Caude, P. Munier, E. Benko, S. Hanein, E. Westhof, N. Boddaert, I. Desguerre, S. Bandiera, M. Girard, D. Rodriguez, A. Munnich, M. Fähling, S. Lyonnet, F. Cartault. 523F Human single nucleotide polymorphisms influence non-coding RNA expression. V. Magadi Gopalaiah, H.-J. Westra, J. Karjalainen, D. V. Zhernakova, B. Hrdlickova, R. Almeida, A. Zhernakova, M. H. Hofker, J. Fu, S. Withoff, L. Franke, C. Wijmenga. 524W Identifying source locations for Alu transcripts within human testes. S. Linker, P. Deininger, D. Hedges. 530W A normalization procedure for removal of residual multiplex PCR amplification bias from ultradeep sequencing of the TCR repertoire. M. J. Rieder, C. Carlson, A. Sherwood, R. Emerson, C. Desmaris, M. Chung, J. Parsons, M. LaMadrid-Herrmannsfeldt, D. Williamson, R. Livingston, H. Robins. 531F Expression QTL analysis of a gene expression signature which predicts advanced non-alcoholic fatty liver disease. M. Garrett, C. Moylan, J. Gibson, H. Yang, H. Pang, A. Dellinger, A. Suzuki, H. Tillmann, C. Guy, M. Abdelmalek, S. Murphy, A. Diehl, M. Hauser, A. Ashley- Koch. 532W Bead-based method for capturing specific microrna in human urine: A non invasive way of detecting clinical conditions. M. Rath, T. Xu, C. Trinh, K. Tran, J. Stevens, A. Shi, M.-P. Gauthier. 533F Experimental depletion and regeneration of human mitochondrial DNA to investigate its role in nuclear gene regulation. S. Kumar, C. Bellis, M. P. Johnson, H. H. H. Goring, T. D. Dyer, J. Blangero, J. E. Curran. 534W Primary mitochondrial diseases dysregulate the transcriptional and post-transcriptional regulatory systems in a tissue-specific pattern. Z. Zhang, M. Tsukikawa, E. Polyak, J. Ostrovsky, C. Clarke, E. Place, E. Rappaport, G. Reiner, M. Yudkoff, R. Naviaux, R. Haas, J. Baur, M. Falk. 535F Genetic variation in expression response to endoplasmic reticulum stress in human B cells. W. Bernal, M. Morley, V. Cheung. 536W Dynamic network connectivity mapping of T-cell activation in Caucasians and African Americans W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

134 132 POSTER SESSIONS identifies a common set of asthma-associated hub genes. J. Chu, W. Qiu, V. Carey, K. Barnes, C. Ober, F. Martinez, R. Lemanske, A. Liu, S. London, S. Weiss, B. Raby. 537F Immunity genes and pathways are associated with human microbiome composition at host body sites. R. Blekhman, J. Goodrich, K. Huang, R. Bukowski, Q. Sun, R. E. Ley, D. Gevers, A. G. Clark. 538W Ribosome footprints on Williams syndrome region genes in the mouse brain. R. Weiss, M. Howard, L. Dai, J. Korenberg. 539F Regulatory mutations in the 5 UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber congenital amaurosis. F. Coppieters, A. Baert, C. Van Cauwenbergh, M. Bauwens, S. De Jaegere, T. de Ravel, F. Meire, N. Abdelmoula Bouayed, L. Florentin-Arar, B. P. Leroy, E. De Baere. 540W Disruption of a cis-acting microrna site in FMR1 results in reduced translation of an FMRP reporter. J. Suhl, R. Muddashetty, G. Bassell, S. Warren. 541F Is the biosynthesis of the major phospholipid class phosphatidylcoline in mammalian cells regulated by microrna? K. Hokynar, S. Hänninen, M. Hermansson, P. Somerharju. 542W Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation. E. de Klerk, A. Venema, S. Y. Anvar, J. J. Goeman, O. Hu, J. T. den Dunnen, S. M. van der Maarel, V. Raz, P. A. C. t Hoen. 543F Identification of human RNA editing sites using publically available RNA-sequencing data. G. Ramaswami, J. B. Li. 544W Human ADAR proteins regulate RNA editing and gene expression as revealed in systems study. I. Wang, J. Toung, A. Richards, E. So, Y. Zhao, W. Ankener, J. Devlin, Y. Liu, V. Cheung. 545F Integrating functional and computational genomics to develop neuronal regulatory vocabularies. X. Reed, L. Taher, G. M. Burzynski, C. Fletez-Brant, D. Lee, D. S. Gary, M. A. Beer, I. Ovcharenko, A. S. McCallion. 546W Transcriptome genomic analysis using RNA-seq in three tissues of a twin cohort. A. Buil, A. Brown, M. Davies, A. Viñuela, M. Gallardo, D. Glass, M. Blasco, R. Durbin, T. D. Spector, E. T. Dermitzakis for EUROBATS Consortium. 547F The genetics of gene expression, splicing and transcriptional efficiency through poly-a selection and ribosomal depletion RNA sequencing in humans. M. Pala, M. Marongiu, A. Mulas, R. Cusano, F. Crobu, F. Reinier, R. Berutti, M. G. Piras, C. Joens, D. Schlessinger, G. Abecasis, A. Angius, S. Sanna, F. Cucca, S. B. Montgomery. 548W Quantification of chitinase transcripts in human tissues. M. Ohno, K. Tsuda, M. Sakaguti, Y. Sugahara, F. Oyama. 549F Two functional variants in the promoter region of UBE2L3 confer risk for systemic lupus erythematosus. S. Wang, G. B. Wiley, F. Wen, J. Warner, J. Robertson, J. M. Guthridge, M. Dozmorov, J. D. Wren, J. A. James, P. M. Gaffney. 550W A 660 kb deletion centromeric to the lamin B1 gene (LMNB1) mimics LMNB1 duplication and causes adult-onset autosomal dominant leukodystrophy. E. Giorgio, D. Robyr, E. Di Gregorio, D. Lacerenza, G. Vaula, A. Brusco, S. E. Antonarakis, A. Brussino. 551F Variation in transcription factor binding among humans. F. Grubert, M. Kasowski, C. Heffelfinger, M. Hariharan, A. Asabere, S. Waszak, L. Habegger, J. Rozowsky, M. Shi, A. Urban, M. Hong, K. Karczewski, W. Huber, S. Weissman, M. Gerstein, J. Korbel, M. Snyder. 552W Widespread R-loop formation in the human genome: Implications for epigenetic control and beyond. Y. Lim, P. Ginno, P. Lott, I. Korf, F. Chedin. 553F Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. R. Luo, S. Sanders, Y. Tian, I. Voineagu, N. Huang, S. Chu, L. Klei, C. Cai, J. Ou, J. Lowe, M. Hurles, B. Devlin, M. State, D. Geschwind, ACE Network Consortium. 554W Transcriptional alterations underlying variable phenotypic expressivity associated with 16p11.2 microdeletion/microduplication syndrome within multiplex autism families. I. Blumenthal, J. Z. Levin, Y. Shen, C. Ernst, C. C. Morton, J. F. Gusella, M. E. Talkowski. 555F Differential reduced expression of IRS-1 in visceral and subcutaneous adipose depots in morbidly obese and type2 diabetic subjects and their correlation with metabolic profiles with 2 novel mutations sequenced in Asian Indians. M. Sharma, K. Luthra, S. Aggarwal, N. Vikram, A. Misra. 556W Quantitative analysis of the human beta cell transcriptome. A. C. Nica, H. Ongen, J. Irminger, S. Dupuis, A. Planchon, L. Romano, S. E. Antonarakis, P. A. Halban, E. T. Dermitzakis. 557F Novel sequence motif regulates pluripotency. Y. Song, S. Bao, G. Niu, Y. Zhao, H. Zhu. 558W Quantitative expression analysis of mouse chitinases: Acidic mammalian chitinase is the major transcript in stomach. F. Oyama, M. Ohno, K. Tsuda, M. Sakaguchi, Y. Sugahara. 559F The Japanese firefly, Luciola cruciata, gene: Small intron and their insufficiency of splicing in CHO cells. M. Ishii, R. Kojima, S. Fukuda, M. Sakaguchi, Y. Sugahara, M. Kamaya, F. Oyama. 560W Expression QTL interactions in a cohort of 869 W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

135 POSTER SESSIONS 133 individuals reveals sex specific, cis-cis, trans-cis and trans-trans interactions. J. Bryois, A. Buil, D. M. Evans, D. F. Conrad, S. M. Ring, M. Hurles, P. Deloukas, G. D. Smith, E. T. Dermitzakis. 561F Tissue-specific effects of genetic variation and DNA methylation on gene regulation. E. T. Dermitzakis, M. Gutierrez-Arcelus, S. B. Montgomery, T. Lappalainen, H. Ongen, A. Yurovsky, J. Byrois, A. Buil, T. Giger, L. Romano, A. Planchon, E. Falconnet, I. Padioleau, C. Borrel, A. Letourneau, P. Makrythanasis, M. Guipponi, C. Gehrig, S. E. Antonarakis. 562W Multi-scale integration systematically connects disease-associated variants to molecular pathology. K. J. Karczewski, J. T. Dudley, R. Chen, A. J. Butte, M. Snyder. 571F Regulatory impact of alternative polyadenylation in human B-lymphoblastoid cells. O. K. Yoon, T. Y. Hsu, J. H. Im, R. B. Brem. 572W Identification of a novel CFTR mrna isoform in nasal epithelial cells. A. Hinzpeter, A. de Becdelièvre, E. Bieth, F. Brémont, C. Costa, C. Gameiro, A. Aissat, M. Goossens, P. Fanen, E. Girodon. 573F Cytokine induced genetic-epigenetic interactions at autoimmune thyroiditis susceptibility gene variants. M. Stefan, W. Zang, M. Keddache, Y. Tomer. 574W DMD transcript imbalance regulates dystrophin levels. P. Spitali, J. C. van den Bergen, B. Wokke, A. A. M. Janson, R. van den Eijnde, J. J. G. M. Verschuuren, J. T. den Dunnen, P. A. C. t Hoen, A. Aartsma-Rus. POSTER SESSIONS 563F Analysis of primary natural killer cells reveals multiple novel cell-specific eqtl. S. Makino, B. P. Fairfax, E. Ng, J. C. Knight. 564W The impact of polymorphisms within probe sequences on expression QTL studies. A. Ramasamy, D. Trabzuni, R. J. Gibbs, A. Dillman, D. G. Hernandez, S. Arepalli, R. Walker, C. Smith, A. A. Shabalin, Y. Li, A. B. Singleton, M. R. Cookson, J. Hardy, M. Ryten, M. E. Weale, North American Brain Expression Consortium and UK Brain Expression Consortium. 565F PGC-1a regulates TFEB to promote autophagy lysosome-mediated turnover of aggregate-prone neurodegenerative disease proteins. T. Tsunemi, B. E. Morrison, T. D. Ashe, A. R. La Spada. 566W The SLE associated TT.A polymorphism downstream of TNFAIP3 demonstrates lower affinity for NF- B and SATB1 and reduced enhancer activity. F. Wen, A. K. Templeton, S. Wang, J. M. Guthridge, M. B. Humphrey, P. M. Gaffney. 567F Transcriptome and genome sequencing uncovers functional variation in human populations. T. Lappalainen, M. Sammeth, N. Kurbatova, J. Monlong, M. Friedländer, M. A. Rivas, T. Wieland, O. Karlberg, M. Barann, P. A. C. t Hoen, T. Griebel, M. Sultan, D. MacArthur, E. Lizano, T. Strom, S. Schreiber, H. Lerach, S. E. Antonarakis, G. J. van Ommen, R. Sudbrak, R. Häsler, A. Brazma, A.-C. Syvänen, P. Rosenstiel, T. Meitinger, R. Guigo, I. Gut, X. Estivill, E. T. Dermitzakis, Geuvadis Consortium. 568W Impact of private variants on human transcriptome architecture. X. Li, K. Karczewski, K. Smith, K. Kukurba, S. Montgomery. 569F Predicting disease-relevant cis-regulatory SNPs via tissue-specificity of allelic expression and chromatin state. N. Light, V. Adoue, P. Lundmark, B. Ge, T. Kwan, A.-C. Syvänen, T. Pastinen. 570W Characterization of the basic regulatory elements involved in the regulation of OTC gene expression in human. O. Luksan, L. Dvorakova, M. Jirsa. 575F Protein inhibitor of activated STAT3 modulates the activity of anterior segment dysgenesis transcription factors in trabecular meshwork cells. T. Footz, L. Huang, M. Walter. 576W Statin-induced alternative splicing in HepG2 cells. C. Stormo, M. K. Kringen, O. K. Olstad, J. P. Berg, A. P. Piehler. 577F Functional RNA editing sites identified by comparative transcriptome analysis. R. Zhang, G. Ramaswami, L. P. Keegan, T. Deng, M. A. O Connell, J. B. Li. 578W Meta-analysis of transcriptome data using pathway-based approach reveals biologically relevant asthma genes. T. Mersha, S. Amirisetty, G. Hershey. 579F Whole transcriptome analysis of velocardiofacial syndrome using next-generation sequencing. Y. Zhang, J. Jin, X. Zhu, M. Haney, Y. Kluger, S. Weissman, A. Urban. 580W Genome-wide search for novel human uorfs and N-terminal protein extensions using ribosomal footprinting. J. Hampe, C. Fritsch, A. Herrmann, M. Nothnagel, K. Szafranski, K. Huse, S. Schreiber, M. Platzer, M. Krawczak, M. Brosch. 581F Variation in protein levels and its genetic determination in human lymphoblastoid cell lines. L. Wu, S. I. Candille, Y. Choi, H. Tang, M. Snyder. 582W The impact of loss of function variants on the transcriptome. M. A. Rivas, T. Lappalainen, M. Sammeth, D. G. MacArthur, N. Kurbatova, T. Wieland, M. Lek, T. Griebel, M. Barann, M. Sultan, J. Carlsson, P. Hoen, T. Strom, S. Schreiber, H. Lehrach, S. E. Antonarakis, G. van Ommen, R. Sudbrak, R. Hasler, A. Brazma, A.-C. Syvänen, P. Rosenstiel, T. Meitinger, R. Guigo, I. Gut, X. Estivill, M. I. McCarthy, E. T. Dermitzakis, Geuvadis Consortium. 583F Mapping cis and trans regulatory effects across multiple tissues in twins: The MuTHER Study. K. Small, E. Grundberg, A. Hedman, A. Nica, A. Buil, S. Keildson, J. Bell, T. Yang, A. Barrett, J. Nisbet, D. Meduri, S.-Y. Shin, D. Glass, J. Min, L. Parts, L. Tsaprouni, F. Nestle, S. O Rahilly, N. Soranzo, C. M. Lindgren, K. Zondervan, W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

136 134 POSTER SESSIONS K. Ahmadi, E. Schadt, K. Stefansson, G. Davey Smith, M. McCarthy, P. Deloukas, E. Dermitzakis, T. Spector, MuTHER Consortium. 584W Identifying age- and sex-associated gene expression profiles in.7,000 whole-blood samples. M. J. Peters, R. Joehanes, T. Esko, K. Heim, H. Völzke, L. Pilling, J. Brody, Y. F. Ramos, B. E. Stranger, M. W. Christiansen, S. Gharib, R. Hanson, A. Hofman, J. Kettunen, D. Levy, P. Munson, C. O Donnell, B. Psaty, F. Rivadeneira, A. Suchy-Dicey, A. G. Uitterlinden, H. Westra, I. Meulenbelt, D. Enquobahrie, T. Frayling, A. Teumer, H. Prokisch, A. Metspalu, J. B. J. Van Meurs, A. D. Johnson on behalf of CHARGE Gene Expression Working Group. 585F Simplified sample preparation and streamlined library preparation method for deep sequencing ribosome protected mrna fragments. R. Vaidyanathan, S. Kuersten, A. Radek, S. Swami, D. Vo, L. Penalva. 586W Genetics and epigenetic regulation of eukaryotic transcriptome. Y. Wakabayashi, T. Ni, D. Corcoran, W. Yang, U. Ohler, W. Peng, C. O Donnell, J. Zhu. 587F Differential protein expression in human-induced pluripotent and embryonic stem cells. S. Brown-Ford, M. Pellitteri-Hahn, A. De La Forest, B. Halligan, S. Duncan, M. Olivier. 588W Understanding the molecular mechanisms underlying autism spectrum disorders using ipscderived neurons. B. A. DeRosa, J. M. Van Baaren, G. K. Dubey, J. M. Lee, M. L. Cuccaro, J. M. Vance, M. A. Pericak-Vance, D. M. Dykxhoorn. 589F Whole exome sequencing in familial non-hht brain arteriovenous malformations. N. Bendjilali, L. Tang, D. E. Guo, R. Hernandez, M. Segal, C. E. McCulloch, S. Inoue, A. Koizumi, W. L. Young, L. Pawlikowska, H. Kim. 590W The investigation of angiotensin converting enzyme I/D and plasminogen activator inhibitor-1 4G/5G polymorphisms in venous thromboembolism patients in Turkish patients. H. Salifoglu, H. Kaya, M. Karkucak, D. Torun, Y. Tunca. 591F Organization of alphoid sequence clusters on human chromosome 21. W. Ziccardi, C. Putonti, J. Doering. 592W A high-resolution genome-wide map of meiotic double-strand breaks in humans. F. Pratto, K. Brick, P. Khil, F. Smagulova, G. Petukhova, R. D. Camerini-Otero. 593F Genome-wide scan of disease-inversion association. J. Ma, C. I. Amos. 594W HOXA11 and MMP2 gene expressions in women with pelvic organ prolapsus. N. Yilmaz, G. Ozaksit, Y. K. Terzi, S. Yilmaz, B. Budak, O. Aksakal, F. I. Sahin. 595F Large scale whole genome and whole exome sequencing of rhesus monkeys (Macaca mulatta) in five primate research centers. M. Raveendran, D. Rio Deiros, G. L. Fawcett, Z. Johnson, N. H. Kalin, R. W. Wiseman, B. Ferguson, E. Vallender, S. Kanthaswamy, D. M. Muzny, R. Gibbs, J. Rogers. 596W Whole genome haplotyping by dilution, amplification and sequencing. F. Kaper, S. Swamy, B. Klotzle, J. Cottrell, S. Munchel, M. Bibikova, S. Kruglyak, M. Ronaghi, M. A. Eberle, J. B. Fan. 597F Mechanism and potential diversity of T-cell receptor rearrangement from sequence repertoires. A. Murugan, T. Mora, A. Walczak, C. Callan. 598W Expression of mouse acidic mammalian chitinase in Escherichia coli and characterization of its properties. A. Kashimura, Y. Kida, M. Ohno, K. Ishikawa, M. Sakaguchi, F. Oyama. 599F Functional analysis of mouse chitinase-like protein Ym1. Y. Kida, M. Sakaguchi, Y. Sugahara, F. Oyama. 600F Targeted deep sequencing by mobile element scanning (ME-Scan) reveals Alu insertions throughout the genome and around the world. D. J. Witherspoon, W. S. Watkins, Y. Zhang, J. Xing, M. A. Batzer, L. B. Jorde. Pharmacogenetics 601T Identification of HNRNPA1 as a novel regulator of cholesterol metabolism. C. Yu, E. Theusch, D. A. Nickerson, K. Lo, M. Kutilova, R. M. Krauss, M. W. Medina. 602T Novel association of dual anti-platelet drug response with a functional variant in PPARG. A. S. Fisch, J. Liu, J. P. Lewis, L. M. Yerges-Armstrong, J. R. O Connell, B. D. Mitchell, R. B. Horenstein, N. Ambulos, K. Ryan, Q. Gibson, J. Shelton, A. R. Shuldiner. 603T Genetic variations associated with gemcitabine treatment outcome in pancreatic cancer. L. Li, B. Fridley, G. Jenkins, E. Carlson, K. Kalari, G. Petersen, R. McWilliams, L. Wang. 604T Large scale phenotyping using the 1000 Genomes Project lymphoblastoid cell line panel. D. Spacek, M. Kaganovich, M. Snyder. 605T The association of SLC6A4 with antidepressantinduced mania: The long and the short of it. J. M. Biernacka, D. L. Walker, J. Geske, S. Winham, S. Crow, M. Chauhan, S. McElroy, M. Frye. 606T Interactions between polymorphisms in eicosanoid metabolism genes and vasodilator responses in humans. L. N. Gordon, C. R. Lee, M. Pretorius, R. N. Schuck, L. H. Burch, D. C. Zeldin, S. M. Williams, N. J. Brown. 607T Pharmacogenetics of schizophrenia: Predicting early response to antipsychotic therapy. M. Gupta, S. Jain, R. Kukreti. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

137 POSTER SESSIONS T Identification of novel polymorphisms associated with efficiency of metformin treatment in type 2 diabetes patients. J. Klovins, L. Tarasova, L. Zarina, V. Pirags, OPTIMED Consortium. 609T Cholesteryl ester transfer protein polymorphisms, statin use, and their impact on cholesterol levels and cardiovascular events. M. Leusink, N. C. Onland-Moret, F. W. Asselbergs, B. Ding, S. Kotti, N. R. van Zuydam, A. C. Papp, N. Danchin, L. Donnelly, A. D. Morris, D. I. Chasman, P. A. F. M. Doevendans, O. H. Klungel, P. M. Ridker, W. H. van Gilst, T. Simon, F. Nyberg, C. N. A. Palmer, W. Sadee, P. van der Harst, C. Verstuyft, P. I. W. de Bakker, A. de Boer, A.-H. Maitland-van der Zee. 610T Association study of inflammation-related genes and depressive disorders and antidepressant response. M.-W. Lin, Y.-T. Chang, I.-H. Lin, Y.-M. Bai. 611T Are CYP2C9 and VKORC1 polymorphisms associated with increased bleeding or thrombosis risk among Blacks receiving warfarin anticoagulation? F. Mili, T. A. Deans, W. C. Hooper, P. Weinstein, C. Lally, H. Austin, N. Wenger. 612T Twelve candidate genes and antidepressant response in obsessive-compulsive disorder. G. Zai, E. Brandl, J. Deluce, J. L. Kennedy, M. A. Richter. 613T A genome-wide integrative study of micrornas in human liver. W. Liu, F. Innocenti, E. Gamazon, S. Mirkov, J. Ramirez, S. Huang, N. Cox, M. Ratain. 614T Protein quantitative trait loci identify novel proteins predictive for chemotherapeutic induced phenotypes. A. L. Stark, R. J. Hause, Jr., L. K. Gorsic, N. N. Antao, S. S. Wong, D. F. Gill, S. H. Chung, S. M. Delaney, C. D. Brown, K. P. White, R. B. Jones, M. E. Dolan. 615T Functional genetic variation in RHOA is associated with the cholesterol-lowering effects of statin treatment. E. Theusch, D. Naidoo, F. Bauzon, K. Stevens, L. Mangravite, Y. L. Kuang, R. M. Krauss, M. W. Medina. 616T The modulation of CYP3A4 expression by the efflux pump ABCB1 in HepG2 cells. W. Shou, B. Wang, Z. Wang, J. Shi, W. Huang. 617T Genetic determinants of dabigatran plasma levels and their relation to bleeding. G. Pare, N. Eriksson, T. Lehr, S. Connolly, J. Eikelboom, M. D. Ezekowitz, T. Axelsson, S. Haertter, J. Oldgren, P. Reilly, A. Siegbahn, A.-C. Syvänen, C. Wadelius, M. Wadelius, H. Zimdahl- Gelling, S. Yusuf, L. Wallentin. 618T Genome-wide study of resistant hypertension using existing genomic data and electronic medical records. L. Dumitrescu, M. D. Ritchie, J. C. Denny, S. J. Bielinski, P. Peissig, J. A. Pacheco, M. G. Hayes, G. P. Jarvik, R. Li, I. J. Kullo, C. G. Chute, R. L. Chisholm, E. B. Larson, C. A. McCarty, D. M. Roden, M. de Andrade, D. C. Crawford on behalf of emerge Network. 619T Genetic and clinical determinants of warfarin dose: A RE-LY genomics substudy. N. Eriksson, L. Wallentin, L. Berglund, T. Axelsson, S. Connolly, M. Ezekowitz, J. Oldgren, P. Guillaume, P. Reilly, A. Siegbahn, A.-C. Syvänen, C. Wadelius, S. Yusuf, M. Wadelius. 620T The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: A genome-wide association study of quetiapineinduced weight gain derived from electronic medical records and outpatient pharmacy data. N. Gonzaludo, S. Sciortino, L. Walter, N. Risch, P. Y. Kwok, C. Schaefer. 621T Genome-wide association analysis of pain reduction in rheumatoid arthritis patients treated with anti-tnf medication. M. Umicevic Mirkov, H. Scheffer, S. Krintel, S. H. Vermeulen, J. Johansen, W. Kievit, M. A. F. van de Laar, P. C. L. van Riel, B. Franke, M. Hetland, M. J. H. Coenen. 622T A genome-wide association analysis of corticosteroid response in asthmatics. Q. Duan, B. E. Himes, B. Schuemann, K. G. Tantisira, S. T. Weiss. 623T microrna-based approach expands on genomewide association study and identifies SNPs important for response to glucocorticoids in asthma patients. H. Im, E. R. Gamazon, D. Lenkala, K. Wu, G. Clemmer, S. T. Weiss, N. J. Cox, K. Tantisira, R. S. Huang. 624T SLC9A9 variant as a novel biomarker of response to interferon beta: Results from a pharmacogenetic study on Italian, U.S. and French multiple sclerosis patients. F. Martinelli Boneschi, F. Esposito, E. Lim, P. Brambilla, M. Sorosina, M. Romeo, M. Rodegher, N. Bohossian, N. A. Patsopoulos, B. Kenan, V. Martinelli, D. Brassat, G. Comi, P. De Jager. 625T Polygenic heritability estimates of asthma and treatment-related phenotypes. M. J. McGeachie, E. A. Stahl, B. E. Himes, S. A. Pendergrass, M. D. Ritchie, R. M. Plenge, K. G. Tantisira. 626T Web-based phenotyping yields replication of genetic associations with sensitivity to warfarin. J. L. Mountain, A. K. Kiefer, M. Mullins, T. K. Acquaye, C. B. Marsh, J. A. Johnson, H. L. McLeod, J. Y. Tung, N. Eriksson, K. E. Barnholt. 627T Follow-up study of genetic risk factors for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. T. Ozeki, T. Mushiroda, A. Takahashi, M. Kubo, Y. Shirakata, Z. Ikezawa, M. Iijima, T. Shiohara, K. Hashimoto, Y. Nakamura. 628T Re-examination of the CATIE pharmacogenetics whole-genome dataset using a run of significiant findings approach, focus on tardive dyskinesia. C. Zai, V. Gonçalves, A. Tiwari, G. Oh, V. de Luca, D. Mueller, J. Knight, J. Kennedy. 629T A Bayesian approach to genome-wide genetic association studies with survival time as outcome. L. Chien, I. Chang, C. Hsiung. POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

138 136 POSTER SESSIONS 630T IL28B genotypes associated with IFN-induced virologic response in clinical studies evaluating eltrombopag treatment in HCV-infected patients with low platelet counts. M. Chiano, L. Condreay, L. Briley, D. Pulford, D. Fraser, K. Johansson, D. Briley, E. Harris, S. Bhatti, D. Theodore, F. Campbell, S. Vasey, M. Arning, C. Spraggs. 631T Mapping the incidentalome: Quantifying incidental findings generated through a clinical pharmacogenomics project. K. B. Brothers, M. J. Westbrook, M. F. Wright, S. L. Van Driest, T. L. McGregor, J. C. Denny, R. L. Zuvich, E. W. Clayton. 632T The Coriell Personalized Medicine Collaborative pharmacogenomics appraisal and evidence scoring sytem. N. Gharani, M. A. Keller, C. A. Stack, T. J. Schmidlen, R. S. Kasper, J. P. Jarvis, N. P. Gerry, E. S. Gordon, M. F. Christman. 633T PharmGKB: From pharmacogenomics knowledge to clinical interpretation and implementation. L. Gong, M. Whirl-Carrillo, J. M. Hebert, E. M. McDonagh, K. Sangkuhl, C. F. Thorn, D. Klein, R. B. Altman, T. E. Klein. 634T Development of a scoring tool to prioritize clinical pharmacogenomic testing. S. F. Manzi. 635T Pharmacogenomic research undertaken by PharmGKB consortia groups. E. M. McDonagh, M. Whirl Carrillo, L. Gong, J. M. Hebert, K. Sangkuhl, C. F. Thorn, D. Klein, R. B. Altman, T. E. Klein. 636T Effects of CYP2C9 and VKORC1 polymorphisms on clinical outcomes and warfarin response: Focusing on personalized medicine. P. C. J. L. Santos, R. A. G. Soares, C. M. C. Strunz, J. E. Krieger, A. C. Pereira. 637T Performance of a biomarker risk algorithm for a primary prevention trial of Alzheimer s disease. M. W. Lutz, D. K. Burns, D. G. Crenshaw, A. M. Saunders, A. D. Roses. 638T A study of asthma pharmacogenomics using RNAseq. B. E. Himes, R. Hu, P. Wagner, D. Chan, B. Klanderman, R. A. Panettieri Jr., K. Tantisira, S. T. Weiss, Q. Lu. 639T Genetic moderators of treatment response to methylphenidate and guanfacine in children and adolescents with ADHD. E. L. Nurmi, K. S. Mallya, F. Whelan, C. P. Laughlin, J. J. McGough, S. K. Loo, R. M. Bilder, J. T. McCracken. 640T Identifying genes that influence acute ethanol responsive behaviors in Caenorhabditis elegans. J. T. Alaimo, A. G. Davies, J. C. Bettinger. 641T Characterization of Northeast Asian ADME gene variation via exome sequencing. D. H. Hovelson, Z. Xue, S. Rashkin, X. Zhan, M. G. Ehm, A. Yeo, I. J. Jang, I. Ieiri, J. E. Lee, L. R. Cardon, S. L. Chissoe, G. Abecasis, M. R. Nelson. 642T Drug metabolizing enzyme genes and nicotine and cotinine metabolism. A. W. Bergen, H. S. Javitz, M. Michel, R. Krasnow, D. Nishita, C. N. Lessov-Schlaggar, H. Hops, N. J. Markward, S. Hall, T. Baker, D. V. Conti, R. F. Tyndale, N. L. Benowitz, G. E. Swan. 643T Identification of a SNP in the UGT1A1 promoter associated with increased serum bilirubin levels. M. K. Kringen, A. P. Piehler, R. M. Grimholt, M. S. Opdal, K. B. F. Haug, P. Urdal. 644T Well-characterized cohorts and exome data: Investigating antipsychotic pharmacogenomics in the South African context. B. Drogemoller, D. Niehaus, G. Wright, B. Chiliza, L. Asmal, L. Koen, R. Emsley, L. Warnich. 645T Can genetic variation of CES1A predict methylphenidate response in ADHD patients? A. Cassidy, E. Sizer, D. Rutschow, K. Hogg, J. Berg, D. Coghill. 646T Whole exome analysis of African American warfarin pharmacogenomics. R. Daneshjou, K. Aquino- Michaels, B. Burkley, L. H. Cavallari, J. A. Johnson, N. A. Johnson, T. E. Klein, K. J. Karczewski, T. Langaee, S. R. Patel, M. Perera, H. Sagreiya, H. Tang, N. Tatonetti, R. B. Altman. 647T Survey of rare variants in pharmacogenes for patients with statin-induced myopathy identified in a biorepository linked to electronic medical records. M. T. Oetjens, Q. Feng, A. R. Ramirez, E. Bowton, T. Clark, D. M. Roden, D. C. Crawford, R. A. Wilke. 648T Genetic determinants of fetal hemoglobin response to hydroxyurea. V. A. Sheehan, A. Sabo, J. R. Crosby, T. A. Howard, D. M. Muzny, B. Davis, A. Li, U. Nagaswamy, E. Boerwinkle, R. A. Gibbs, R. E. Ware, J. M. Flannagan. 649T Translating genetic associations to new medicines. M. G. Ehm, S. L. Chissoe, M. R. Nelson, D. M. Waterworth, L. C. McCarthy, H. Tipney, T. Pastinen, M. Saleh, P. Gros, P. Agarwal, M. Lathrop, L. R. Cardon, J. B. Richards, P. Sanseau. 650T Association of CYP3A4 and CYP3A5 genotypes with treatment-related hyperlipidemy. L. E. Wong- Ley, L. E. Figuera, R. Ortiz-Orozco, M. Perez-Nuño, P. Aguiar-Garcia, F. A. Ortega-Gutierrez, A. Nuñez- Zenteno.ñ 651T Pharmacogenetic investigation of diarrhea in pazopanib-treated patients with renal cell carcinoma. Z. Xue, L. Huang, C. N. Sternberg, R. A. Figlin, L. McCann, C. F. Spraggs, C. Carpenter, L. N. Pandite, C. Xu. 652T Multi-ethnic glutathione S-transferase copy number profiling. S. Martis, R. Vijzelaar, J. Sload, H. Mei, L. Edelmann, R. J. Desnick, S. A. Scott. 653T Pharmacogenomics of cardiovascular disease treatment in subjects from the Lithuanian population. A. Pranculis, I. Pepalytė, J. Arasimavičius, Z. A. Kučinskienė, V. Kučinskas. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

139 POSTER SESSIONS T Systematic functional characterization of cytochrome P450 2E1 promoter variants in the Chinese Han population. S. Qin, L. He. 666T SUCLG1 mutations causing mitochondrial depletion syndrome with congenital anomalies. H. C. Andersson, M. Landsverk, T. Yeh, D. Cejas, D. Singh, L. J. Wong. 655T Influence of common polymorphisms in ABCB1 gene on interaction between methadone and p-glycoprotein. Y. Teng, C. Hung, M. Chiou. Metabolic Disorders 656T Genetic regulation of circulating glycine concentration in the Finnish population. J. Kettunen, T. Tukiainen, M. Ala-Korpela, J. Eriksson, O. Raitakari, M. R. Järvelin, T. Lehtimäki, V. Salomaa, M. Perola, A. Palotie, S. Ripatti. 657F Functional and physical interaction of the mitochondrial electron transport chain and fatty acid oxidation and its disruption in fatty acid oxidation deficient animals. J. Vockley, Y. Wang, E. Goetzman, J. Palmfeldt, N. Gregersen. 658T Dysregulation of central nervous system sphingolipid metabolism as a unifying mechanism for neuro-cognitive manifestations of Gaucher disease and HIV infection. A. F. Elias, N. J. Haughey, K. Mackey, T. Pitman, A. W. Thomas, S. Wakefield, S. P. Yang. 659F Autism spectrum disorders functioning levels and metabolic alterations. N. Arciniegas, N. Linares, M. Cabrera-Rios, S. Carlo. 660T Creatine transporter deficiency: Novel mutations and functional studies. O. Ardon, X. Yin, N. Longo, A. Shilon-Hadass, G. Gabis, C. Hoffman, M. Tzadok, G. Heimer, S. Sadan, B. Ben-Zeev, Y. Anikster. 661F Mice deficient for succinyl-coa synthetase exhibit functionally significant mtdna depletion and are a model for mitochondrial disease. T. Donti, M. Ge, K. Eldin, B. Graham. 662T Role of medium chain acyl-coa dehydrogenase in the metabolism of sodium phenylbutyrate. K. Kormanik, H. Kang, D. Cuebas, B. Scharschmidt, J. Vockley, A.-W. Mohsen. 663F Common dysfunctional variants of ABCG2 decrease extra-renal urate excretion and cause hyperuricemia. H. Matsuo, T. Takada, A. Nakayama, T. Shimizu, H. Kasuga, H. Nakashima, T. Nakamura, Y. Takada, Y. Kawamura, Y. Utsumi, H. Ogata, M. Nakamura, Y. Sakurai, T. Hosoya, N. Shinomiya, H. Suzuki, K. Ichida. 664T Exploring the phenotype of MMACHC deficiency (cblc) in zebrafish with morpholinos and zinc finger nuclease targeted mutagenesis. J. L. Sloan, K. Bishop, T. L. Blake, R. J. Chandler, B. P. Brooks, R. Sood, C. P. Venditti. 665F Comparative study of gene expression profiling of skin fibroblasts of Leigh syndrome French Canadian subjects and controls. J. Tardif, C. Laprise, LSFC Consortium. 667F A mouse model of mitochondrial complex I deficiency exhibits progressive cardiac disease and seizures. W. J. Craigen, T. Donti, Y. C. Lai, S. Ather, X. Wehrens, B. H. Graham. 668T Enzyme function affected by mutations in the sucrase-isomaltase gene. J. Huang, Z. Wu, S. Uhrich, C. R. Scott. 669F Hyperammonemia and urea cycle homeostasis in methylmalonic acidemia. R. J. Chandler, H. Morizono, P. J. McGuire, C. P. Venditti. 670T Propionic acidemia: Is there a decreased in tricarboxylic acid cycle enzyme functions? K. Chapman, A. Markowitz-Shulman, G. Cunningham, J. Cabrera-Luque, M. Summar. 671F Cap myopathy: A distinct form of congenital myopathy. S. J. Piteau, G. Smith, S. Ludwin, J. MacKenzie. 672T Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. E. Morava, S. Wortmann, F. Vaz, T. Gardeitchik, L. E. L. M. Vissers, J. Schuurs-Hoeijmakers, R. Rodenburg, A. Grünewald, C. Klein, T. Kozicz, P. van Hasselt, M. Harakalova, W. Kloosterman, I. Barić, K. Naess, Z. Krumina, C. Gilissen, H. Bokhoven, J. A. Veltman, J. A. M. Smeitink, D. J. Lefeber, R. A. Wevers, A. P. M. de Brouwer. 673F Somatic cell diagnostic studies may miss some patients with mutations in MMAA and MMAB genes responsible for isolated methylmalonic aciduria. L. Dempsey Nunez, M. L. Illson, J. Kent, Q. Huang, A. Brebner, D. Watkins, B. M. Gilfix, C. Wittwer, D. S. Rosenblatt. 674T The clinical spectrum of combined malonic and methylmalonic aciduria, a defect in the intramitochondrial fatty-acid-biosynthesis pathway. I. Manoli, J. L. Sloan, J. J. Johnston, L. Peller, J. C. Sapp, L. G. Biesecker, C. P. Venditti. 675F Neurochemical profiles in children with inborn errors of metabolism determined by in vivo 1H-magnetic resonance spectroscopy. W. Al-Hertani, E. Mason, T. Tam, B. Schmitt, S. Blaser, H. Branson, A. Schulze. 676T Analyzing functional phenotypes in fibroblasts from patients with clinically-diagnosed mitochondrial disease. B. Graham, T. Donti, A. Bessee, W. Craigen, P. Bonnen. 677F Clinical molecular laboratory analysis of the genes of fatty acid oxidation. M. T. Hardison, M. Landsverk, L. Wong. 678T Fabry disease: Molecular analysis of GLA in females with no family history. D. Doheny, I. Nazarenko, POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

140 138 POSTER SESSIONS J. Kim, R. Dobrovolny, R. Desnick. 679F Maple syrup urine disease due to a new point mutation at BCKDHB in Iranian family. M. Hamid, G. R. Shariati, A. H. Saberi, M. Mohammadi. 680T Peanut consumption increases levels of plasma very long chain fatty acids in humans. C. T. Lam, D. A. Wong, S. D. Cederbaum, B. Lim, Y. Qu. 681F Diagnostic testing for multiple treatable metabolic neurodegenerative disorders by nextgeneration sequencing. S. van Koningsbruggen, O. R. Mook, G. Visser, M. A. Haagmans, R. C. Hennekam, G. S. Salomons, P. Verwaijen, H. R. Waterham, F. A. Wijburg, M. M. Mannens. 682T Prevalence of GNE p.m712t and hereditary inclusion body myopathy in Sangesar population of Northern Iran. H. Khademian, R. Carbajo, E. Mehravar, L. Sandoval, J. Garcia-Figueroa, Z. Khokher, D. No, Y. Valles- Ayoub, D. Darvish. 683F Clinical application of massively parallel sequencing for molecular diagnosis of genetically heterogeneous glycogen storage diseases. J. Wang, H. Cui, N.-C. Lee, W.- L. Hwu, Y. H. Chien, W. J. Craigen, L.-C. Wong, V.-W. Zhang. 684T Findings from the ZOOM genetic screening study of Niemann-Pick disease type C in adults with neurological and psychiatric signs. P. Bauer, D. J. Balding, H. H. Klünemann, D. Linden, D. Ory, M. Pineda, J. Priller, F. Sedel, A. Muller, H. Chadha-Boreham, R. Welford, D. S. Strasser, J. E. Wraith, M. C. Patterson. 685F Detection of mucopolysacchariduria in driedurine filter paper samples: A useful technique for regions where transportation of liquid samples is challenging. R. Giugliani, F. Bender, G. Marasca, R. Guidobono, J. De Mari, M. Burin, G. Civallero. 686T Analysis of non-reducing ends of glycosaminoglycans for the diagnosis and monitoring of therapy in mucopolysaccharidoses type I and type II. T. Yuzyuk, E. Schwarz, J. Brown, B. Crawford, M. Pasquali. 687F Rare, bizarre, and complex illnesses with unusual medical events in patients should be a signal to trigger a mitochondrial work-up: Clinical decision tree for mitochondrial disorder workup is provided. A. Perszyk. 688T Clinical re-sequencing of 450 genes to diagnose mitochondrial disorders: Results from the first 119 patients. J. DaRe, V. Vasta, T. Tran, J. Penn, L. Susswein, J. Booker, S. Hahn. 689F Insulin resistance: Development of a clinical assay for INSR mutation detection. M. Procter, O. Ardon, A. Carey, H. Amiri, N. Longo, R. Mao. 690T Comparative transcriptome profiles in Gaucher disease mice treated with imiglucerase or velaglucerase alfa. N. Dasgupta, Y.-H. Xu, S. Oh, Y. Sun, L. Jia, S. Barnes, M. Keddache, G. A. Grabowski. 691F Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. G. Baldo, F. Mayer, B. Martinelli, F. Meyer, P. de Oliveira, A. Tavares, L. Meurer, T. de Carvalho, U. Matte, R. Giugliani. 692T Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patients. B. Bembi, G. Ciana, L. Deroma, A. M. Franzil, A. Dardis. 693F Evaluation of long-term enzyme replacement therapy for children with Fabry disease. A. M. Hebert, T. Taber, L. Lacbawan, M. Banikazemi, O. Goker-Alpan. 694T Combined therapy in a patient with Gaucher type III. J. Navarrete, P. Galindo, R. Delgado, A. Limon. 695F Biochemical characterization of myelin abnormalities in the corpus callosum in MPS I dogs. S.-H. Kan, S. Q. Le, J. K. Yee, M. Guzman, N. M. Ellinwood, P. I. Dickson. 696T Enzyme replacement therapy in a Gaucher type 3 patient: Report of a paradigmatic case. F. Vairo, A. D. Dornelles, S. D. Mittelstadt, M. Wilke, D. Doneda, C. B. O. Netto, I. V. D. Schwartz. 697F Alteration in liver TGFb expression and signaling in MPS I canines and the effect of enzyme replacement therapy. M. Vera, S. Q. Le, S. H. Kan, P. I. Dickson. 698T Korean experience with citrin deficiency. B. H. Lee, Y. M. Kim, G. H. Kim, K. M. Kim, H. W. Yoo. 699F Molecular diagnosis in mitochondrial respiratory chain deficiency using exome sequencing. R. Kopajtich, T. B. Haack, B. Haberberger, K. Danhauser, J. A. Mayr, W. Sperl, U. Ahting, G. F. Hoffmann, M. Tesarova, E. Frisch, M. Schülke, I. Wittig, P. Freisinger, D. Ghezzi, M. Zeviani, A. Rötig, E. Graf, T. M. Strom, T. Meitinger, H. Prokisch. 700T Occurrence of lysosomal storage disorders in children with hepatomegaly or hepatosplenomegaly: An institutional experience. M. Mistri, C. Ankeleshwaria, A. Bavdekar, M. Kamate, C. Datar, F. Sheth, J. Sheth. 701F Exome sequencing reveals that mutations in the genes encoding aminoacyl trna synthetases cause a variety of clinical syndromes. M. T. Geraghty, M. J. M. Nowaczyk, P. Humphreys, J. Schwartzentruber, C. L. Beaulieu, A. Smith, L. Huang, J. Majewski, D. E. Bulman, K. M. Boycott, FORGE Consortium. 702T Novel mutations in the PC gene in patients with type B pyruvate carboxylase deficiency. E. Oestergaard, M. Duno,. LB. Møller, H. S. Kalkanoglu-Sivri, A. Dursun, D. Aliefendioglu, H. Leth, M. Dahl, E. Christensen, F. Wibrand. 703F Bioinformatics and genotypic evaluation of the IDUA gene and protein in MPS I patients diagnosed in Colombia, Ecuador and Perú. H. Velasco, J. Gonzalez, T. Pineda. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

141 POSTER SESSIONS T A founder mutation causing a severe methylenetetrahydrofolate reductase deficiency in Bukharian Jews. S. Ben-Shachar, T. Zvi, A. Rolfs, A. B. Klobus, Y. Yaron, A. Bar-Shira, A. Orr-Urtreger. chronic pain. C. Goizet, V. Dousset, M. Cadenne, E. Maurat, S. François, C. Blanchard, P. Poulizac, S. Tabuteau, C. Hubert, S. Laborde, P. Casenave, X. Ferrer, G. Solé, I. Coupry, F. Bauduer, T. Levade, D. Lacombe. 705F Somatic cell and molecular studies on an atypical patient with combined homocystinuria and methylmalonic aciduria (cblc). A. Brebner, C. Ficicioglu, D. Watkins, T. Pastinen, D. S. Rosenblatt. 706T Exome sequencing reveals a homozygous ABCD4 mutation in an adolescent with hyperpigmentation, ischemia, hyperhomocysteinemia, and methylmalonic aciduria. J. C. Kim, A. Brebner, N. C. Lee, W. L. Hwu, Y. H. Chien, S. Fahiminiya, J. Majewski, D. Watkins, D. S. Rosenblatt. 707F Molecular characterization of the GALK1 gene in Filipino patients with non-classical galactosemia. C. L. T. Silao, K. N. Hernandez, D. M. Canson, S. C. Estrada. 717F Infantile onset severe phenotype of cblg disorder in a patient and abnormal neurotransmitter metabolites. R. Jobling, S. Hewson, S. Mercimek- Mahmutoglu. 718T Abnormal central tegmental tract signal in a patient with mild glycogen storage disease type 1a. D. L. Renaud, S. T. Janousek, D. K. Freese, W. F. Schwenk. 719F Mild clinical and atypical somatic cell findings in a cblf patient detected by expanded newborn screening. D. Rosenblatt, A. Brebner, I. R. Miousse, J. C. Kim, M. T. Geraghty, D. Watkins, C. Armour. 720T Fumarase deficiency. Expanding the phenotype. K. Siriwardena, W. Al-Hertani, J. Kronick, D. Chitayat. POSTER SESSIONS 708T Exome sequencing reveals a frequent Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. H. Smeets, M. Gerards, R. Kamps, I. Boesten, E. Jongen, B. de Koning, K. Schoonderwoerd, A. Sefiani, I. Ratbi, W. Coppieters, L. Karim, I. de Coo, B. van den Bosch. 709F SATB2 acts as an activator of the UPF3B gene. P. Leoyklang, K. Suphapeetiporn, C. Srichomthong, S. Tongkobpetch, H. Dorward, A. R. Cullinane, M. Huizing, W. A. Gahl, V. Shotelersuk. 710T Low bone strength is a manifestation of phenylketonuria in mice and is attenuated by a glycomacropeptide-based diet. R. D. Blank, P. Solverson, S. G. Murali, S. J. Litscher, D. M. Ney. 711F Natural history study of patients with hereditary inclusion body myopathy. J. K. De Dios, J. Shrader, G. Joe, C. Ciccone, A. Mankodi, J. Dastgir, C. Bonnemann, M. Bevans, D. Draper, J. McKew, M. Huizing, W. A. Gahl, N. Carrillo-Carrasco. 712T Hepatic carnitine palmitoyltransferase 1A deficiency: Adulthood complications and a Durango, Mexico founder mutation. N. M. Gallant, N. Vatanavicharn, D. Salazar, W. R. Wilcox. 713F Basis of immune dysregulation in Gaucher disease. C. Martin, L. Kozhaya, T. Taber, D. Unutmaz, O. Goker-Alpan. 714T Longitudinal change in brain volumes and cognitive function in MPS IIIA. I. Nestrasil, K. Delaney, B. Yund, A. Ahmed, K. Rudser, V. Kovac, P. Haslett, C. Richard, C. Whitley, E. Shapiro. 715F Is the profile of medical signs and symptoms associated with specific genotype in mucopolysaccharidosis type I? A. Ahmed, R. Cooksley, C. Whitley, E. Shapiro. 716T Prevalence of Fabry disease in patients with 721F Renal growth in isolated methylmalonic acidemia. P. Kruszka, I. Manoli, J. Sloan, C. P. Venditti. 722T Plasmalogen deficiency in the Pex7 hypomorphic mouse, a model of rhizomelic chondrodysplasia punctata, causes neonatal lethality associated with late lung maturational defects. N. Braverman, X. He, S. Jiralerspong, G. Nimmo, Y. Chen, J. Hacia, A. Moser, W. Cui. 723F Phenylketonuria and defective metabolism of tetrahydrobiopterin. A. Al-Aqeel. 724T Two cases of neonatal onset type II citrullinemia diagnosed by urine organic acids based newborn screening. Y. Watanabe, K. Tashiro, K. Aoki, T. Inokuchi, Y. Seki, T. Yanagi, T. Mizuochi, J. Okada, M. Yoshino, T. Matsuishi. 725F Translational research in newborn screening: Implementation of a consensus data set for the long-term follow-up of patients to improve scientific understanding and optimize health outcomes. S. Berry, K. Hassell, A. Brower, Joint Committee of NBSTRN Clinical Centers Workgroup and NCC/RC Long-Term Follow-Up Workgroup. 726T Newborn screening for infantile Pompe disease: Report of a pilot study in National Center for Child Health and Development. M. Kosuga, K. Kida, N. Fuji, T. Okuyama. 727F The identification of infants with Fabry, Pompe, and mucopolysaccharidosis-i from newborn blood spots. C. R. Scott, S. Elliott, N. Buroker, L. I. Thomas, M. Glass, F. Turecek, M. H. Gelb. 728T Bare lymphocyte syndrome type III, a novel mutation in RFXAP and failure to identify with newborn screening for severe combined immunodeficiency. L. Randolph, J. Chase, M. Aguilera, J. Siles, J. Church. 729F Standard value of urine HVA/VMA ratio in the W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

142 140 POSTER SESSIONS early neonatal period to screen for Menkes disease. M. Yagi, N. Kusunoki, T. Lee, H. Awano, T. Yokota, A. Miwa, A. Shibata, I. Morioka, Y. Takeshima, K. Iijima. 730T Correlation of phenylalanine concentration with neuropsychiatric symptom scores in phenylketonuria patients. T. Morgan, N. Owen, A. Bawcom, G. Wey, L. Ashford, J. Phillips. 731F A rare disease simple treatment: Sepiapterin reductase deficiency with a novel mutation. I. M. Zamir, B. Ben-Zeev, A. Mimouni-Bloch, S. Msilaty-Gross, Y. Anikster. 732T A phase 2a study to investigate the effects of a single dose of migalastat HCl, a pharmacological chaperone, on alpha-gal A activity in subjects with Fabry disease. F. K. Johnson, P. N. Mudd, Jr., S. Sitaraman, R. Winkler, J. Flanagan, R. Khanna, K. J. Valenzano, D. J. Lockhart, P. Boudes on Behalf of Study AT Principal Investigators. 733F A novel drug target site for medium chain acyl- CoA dehydrogenase deficiency: Implications for future drug therapy. H. Kang, J. Vockley, A.-W. Mohsen. 734T Immune response against enzyme replacement therapy alters enzyme distribution in mucopolysaccharidosis I mice. S. Le, S.-H. Kan, M. Vera, P. Dicskon. 735F Hepatic gene transfer of TFEB results in clearance of mutant alpha-1-antitrypsin. N. Pastore, P. Piccolo, F. Annunziata, R. M. Sepe, F. Vetrini, D. Palmer, P. Ng, K. Blomenkamp, J. Teckman, A. Ballabio, N. Brunetti- Pierri. 736T Neuronal differentiation of induced pluripotent stem cells from Gaucher disease fibroblasts. J. B. Florer, C. N. Mayhew, Y. Sun, G. A. Grabowski. 737F Resveratrol and bezafibrate both dramatically induce transcription of aspartoacylase: A potential new treatment for Canavan disease? B. S. Andresen, T. K. Doktor, J. O. Sass, J. Bastin, F. Djouadi, T. J. Corydon, E. Christensen, A. M. Lund, H. S. Andersen. 738T The ingestion of a high protein diet during gestation magnifies the in vivo production of metabolites in MMA mice in utero. D. Brown, J. Senac, J. Sloan, I. Manoli, C. Venditti. 739F Danshen extract regulates energy metabolism by activating the AMPK-SIRT1-PGC-1a. Y. H. Cho, C. R. Ku, H. Lee, E. J. Lee. 740T Protocols for sick day management and emergency interventions for mitochondrial disorder patients are important for family education, treatment and support. M. Fredrich, A. Perszyk. 741F High fat diet paradoxically improves cold survival in a mouse model of medium-chain acyl-coa dehydrogenase deficiency. S. E. McCandless, L. Rice, C. L. Hoppel. 742T Sapropterin treatment for toddlers with PKU. N. L. Pallone. 743F Ubiquinol preparations are numerous and selection of appropriate mitochondrial supplement requires careful scrutiny by family and doctor. N. Franklin, A. Perszyk. 744T The role of N-acetylcysteine in treating mitochondrial liver disease. A.-K. Niemi, G. M. Enns. 745F Phase 3 study of migalastat HCl for Fabry disease: Stage 1 results. K. Nicholls, C. Feliciani, S. Shankar, F. Ezgu, S. G. Janmohamed, S. M. Laing, R. Schroyer, A. C. Bragat, S. Sitaraman, V. Sniukiene, R. E. Winkler, P. Boudes. 746T Differential risk for Parkinson disease in males and females with Gaucher disease. D. Elstein, R. Alcalay, T. Dinur, G. Altarescu, E. Ben-Chetrit, A. Zimran. 747F Potential cluster of MPS IV A in Northeast Brazil. F. Kubaski, A. C. Brusius-Facchin, P. F. V. Medeiros, C. S. E. Gondim, R. Giugliani, S. Leistner-Segal. 748T Persistent thrombocytopenia in type I Gaucher disease: Evaluation and management. H. Rosenbaum. 749F Chemotactic factors critical for increased immunological cell invasion in Gaucher disease mice. M. K. Pandey, N. A. Jabre, G. A. Grabowski. 750T Systematic screening for treatable inborn errors of metabolism in intellectual disability patients: First study results. S. Stockler, R. Salvarinova, G. Horvath, Y. Lillquist, H. Vallance, S. Sinclair, M. Lafek, T. Murphy, A. Lehman, M. Patel, M. Demos, M. Connolly, C. van Karnebeek, TIDE BC, Treatable Intellectual Disability Endeavor in British Columbia. 751F A novel homozygous mutation in EARS2 causing a fatal multisystem infantile disease. A. Pyle, B. Talim, H. Griffin, H. Topaloglu, M. Santibanez-Koref, P. F. Chinnery, R. Horvath. 752T Novel phenotype associated with OPA mutations? M. Tesarova, V. Stranecky, H. Kratochvilova, Z. Hajkova, J. Sladkova, J. Spacilova, H. Hansikova, T. Honzik, H. Hartmannova, L. Noskova, L. Piherova, E. Lalonde, J. Majewski, S. Kmoch, J. Zeman. 753T Evaluating pain, negative mood, and resilience in patients affected by Fabry disease. A. M. Lelis, R. Duran, L. Beckman, J. Garbanati, W. Wilcox, J. Mirocha. Therapy for Genetic Disorders 754W Comparison of the differentiation potential of human mesenchymal stem cells and several animal species. F. Piryaei, M. Ramezani, M. Kadivar, F. Piryaei. 755W Bone marrow-derived cells as a stable source of sialic acid for mice with GNE myopathy. M. C. Malicdan, W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

143 POSTER SESSIONS 141 K. Momma, F. Funato, Y. K. Hayashi, I. Nonaka, M. Huizing, W. Gahl, C. F. Boerkoel, I. Nishino, S. Noguchi. Goker-Alpan, G. M. Pastores, B. Rosenbloom, J. Ibrahim, G. M. Cohn, D. Zahrieh, P. K. Mistry. 756W Lysine restricted diet as novel therapy for pyridoxine dependent epilepsy: First observational study. C. van Karnebeek, H. Hartmann, S. Jaggawantru, J. P. Collet, B. Plecko, S. Stockler, Pyridoxine Dependent Epilepsy Consortium. 757W High-fat diet rescues lethality of homozygous knockin R155H mice with VCP-associated disease. K. J. Llewellyn, A. Nalbandian, C. Nguyen, V. E. Kimonis. 758W Serin diet relieves symptoms of hereditary sensory and autonomous neuropathy type 1A caused by a c.992 C.T, p.(ser331phe), mutation in SPTLC1. B. Rautenstrauss, E. Wilichowski, E. Holinski-Feder, T. Hornemann. 759W Pilot trial of high-dose carnitine supplementation in young, non-dysmorphic males with autism spectrum disorders. R. Goin-Kochel, F. Scaglia, C. Schaaf, D. Dang, A. Laakman, K. Nowell, A. L. Beaudet. 769W Safety and tolerability of velaglucerase alfa enzyme replacement therapy in patients aged $65 years with type 1 Gaucher disease: A multicenter, open label trial. J. Ibrahim, G. M. Pastores, B. Rosenbloom, O. Goker-Alpan, G. M. Cohn, D. Zahrieh, P. K. Mistry. 770W A double blind, placebo controlled trial of minocycline in children with fragile X syndrome. R. Hagerman, M. J. Leigh, D. V. Nguyen, T. I. Winarni, S. Rivera, A. Schneider, T. Chechi, D. Hessl. 771W Enhancing suppression of nonsense mutations in Duchenne muscular dystrophy. P. S. Lai, R. Elangovan, S. K. H. Tay, P. S. Low. 772W Long-term safety of migalastat HCl in patients with Fabry disease. D. P. Germain, R. Giugliani, G. M. Pastores, K. Nicholls, S. Shankar, R. Schiffmann, D. Hughes, A. B. Mehta, S. Waldek, A. Jovanovic, K. Benistan, J. K. Simosky, V. Sniukiene, R. Winkler, P. F. Boudes. POSTER SESSIONS 760W Results of the phase II multicenter, single arm, phase II controlled trial IEDAT-01. L. Chessa, V. Leuzzi, A. Plebani, R. Micheli, A. R. Soresina, I. Quinti, D. D Agnano, C. Bozzao, P. Lulli, M. Magnani. 761W Generation and characterisation of FRDA mouse model cell lines. C. Sandi, S. Al-Mahdawi, V. Ezzatizadeh, S. Virmouni, M. Sandi, M. Pook. 762W Non-penetrance in RP17? An investigation into the molecular mechanisms underlying retinitis pigmentosa 17 with the view to developing novel genebased therapies. A. Pandor, S. Prince, R. Ramesar. 763W Pharmacological evaluation of a CNP analogue for the treatment of achondroplasia. F. Lorget, N. Kaci, J. Peng, C. Benoist-Lasselin, E. Mugniery, T. Oppeneer, D. Wendt, S. Bullens, S. Bunting, L. Tsuruda, C. O Neill, F. Di Rocco, A. Munnich, L. Legeai-Mallet. 764W Role of vitamin D in osteoarthritis knee: A six month double blind, randomized, placebo control trial. S. R. Nath, D. Sanghi, S. Raj, K. Baghel, A. Mishra. 765W Use of the amniotic fluid transcriptome to identify novel antenatal treatments for fetuses affected with Down syndrome. F. Guedj, L. Massingham, K. Johnson, U. Tantravahi, D. Bianchi. 766W Treatment of basal cell carcinomas with a hedgehog pathway inhibitor vismodegib in basal cell nevus syndrome. A. Treherne, S. Bale, W. Chen, J. R. Toro. 767W TGFb signaling exerts dimorphic effects on aortic aneurysm formation and progression in Marfan syndrome. L. Carta, J. R. Cook, M. Del Solar, E. Chiu, N. Clayton, C. Nelson, B. Wentworth, F. Ramirez. 768W Safety of velaglucerase alafa in type 1 Gaucher disease patients with anti-imiglucerase antibodies. O. 773W Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 results after 4 years of treatment. M. J. Peterschmitt, E. Lukina, N. Watman, M. Dragosky, G. M. Pastores, E. Avila Arreguin, H. Rosenbaum, A. Zimran, E. Sysoeva, R. Aguzzi, L. H. Ross, A. C. Puga. 774W Ammonia control in children ages 2 months through 5 years with urea cycle disorders: Comparison of sodium phenylbutyrate and glycerol phenylbutyrate. W. Smith, G. Diaz, U. Lichter-Konecki, S. A. Berry, C. O. Harding, S. E. McCandless, C. LeMons, K. A. Dickinson, D. Coakley, T. Moors, M. Mokhtarani, B. F. Scharschmidt, B. Lee. 775W A comprehensive genetic and functional analysis of a large cohort of patients with Kabuki syndrome: Suggestions for therapy. L. Micale, C. Fusco, B. Augello, M. N. Loviglio, C. Maffeo, M. T. Pellico, L. Zelante, G. Merla. 776W Differential effects of ramipril and losartan therapy on phenotype in mice model for Marfan syndrome. B. L. Lima, G. P. Cardozo, G. R. Fernandes, L. V. Pereira. 777W Curcumin facilitates a transitory cellular stress response in Trembler-J mice. Y. Okamoto, K. Mehrdad, D. Pehlivan, W. Wiszniewski, G. Snipes, J. Lupski. 778W Novel therapeutic assays for epidermolysis bullosa simplex. J. Lacroix, T. Farez, G. Leclerc, A. Dupérée, J. Powell, C. McCuaig, C. Morin, V. Legendre- Guillemin, M. Bchetnia, C. Laprise. 779W Sodium butyrate and valproic acid as a splicing restoring agents in erythroid cells of b-thalassaemic patients. M. Taghizadeh, S. Mansoori Derakhsham, M. Shekari Khaniani, A. Hoseinpour Pheysi. 780W Bisphosphonate therapy in Hajdu-Cheney W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

144 142 POSTER SESSIONS syndrome: Response, suggested protocol and future directions in treatment. M. D. Irving, W. M. Drake, J. Pittaway, D. Dafou, M. A. Simpson, R. T. Trembath. 781W A small chemical, TG003, enhances skipping of mutated dystrophin exons: The third example revealing a decrease of exonic splicing enhancer density in common. A. Nishida, Y. Takeshima, N. Kataoka, M. Yagi, H. Awano, T. Lee, K. Iijima, M. Hagiwara, M. Matsuo. 782W Bezafibrate as treatment option in patients with mitochondrial complex I deficiency. B. M. Haberberger, P. Freisinger, V. Strecker, M. Steger, H. Heide, B. F. Müller, T. Beckhaus, K. Heim, U. Ahting, B. Rolinski, J. Mayr, A. Rötig, W. Sperl, M. Zeviani, I. Wittig, T. Meitinger, H. Prokisch. 783W FMF patients homozygous for M694V have incomplete response to colchicine. H. Yonath, M. Lidar, N. Shechter, F. Sikron, S. Sadetzki, P. Langevitz, A. Livneh, E. Pras. 784W CNS administration of recombinant human tripeptidyl peptidase-1 attenuates neurodegeneration, improves function, and increases lifespan in a canine model of classical late infantile neuronal ceroid lipofuscinosis. B. Vuillemenot, M. Katz, D. Kennedy, J. Coates, C. Sibigtroth, R. Whiting, F. Wininger, R. Reed, E. Adams, M. Butt, R. Cahayag, S. Keve, L. Tsuruda, D. Musson, C. O Neill. 785W Intrathecal enzyme replacement therapy improves diffusion tensor imaging abnormalities and volume loss in the corpus callosum in canine mucopolysaccharidosis I. P. Dickson, S. Chen, I. Nestrasil, V. Kovac, J. Jens, S. Q. Le, S.-h. Kan, M. A. Guzman, J. Provenzale, E. G. Shapiro, C. H. Vite, A. Mlikotic, N. M. Ellinwood. 786W Enzyme replacement therapy using chemically modified enzyme markedly enhances therapeutic efficacies for bone lesions in mucopolysaccharidosis VII murine model. S. Tomatsu, D. Rowan, J. Grubb, B. Haupt, A. Montaño. 787W A phase 2 multicenter, open label, switch over trial to evaluate the safety and efficacy of Abcertin (imiglucerase) in patients with type 1 Gaucher disease previously treated with imiglucerase. H. W. Yoo, B. H. Lee, J. S. Lee, J. M. Ko, Y. B. Sohn. 788W Results of 12 months use of taliglucerase alfa for Gaucher disease in an unselected cohort of adult patients on an Israeli compassionate use program. A. Zimran, H. Maayan, G. Altaescu, M. Tiomkin, M. Phillips, D. Elstein. 789W Gaucher disease type 2: Outcomes of enzyme replacement therapy and impact on quality of life. C. Prada, R. Hopkin, L. Bailey, A. Lovell, N. Leslie, G. Grabowski. 790W Efficiency of various antisense oligonucleotides for correcting ATM pre-mrna in a patient with ataxiatelangiectasia with a deep intronic splicing mutation. S. Cavalieri, E. Pozzi, R. Cavalli, R. A. Gatti, A. Brusco. 791W In utero brain-directed AAV gene therapy results in rapid, robust, and specific transduction of mouse choroid plexus epithelia. M. Haddad, A. Donsante, S. G. Kaler. 792W Gene and stem cell treatment for alpha-1 antitrypsin deficiency. B. Feinerman. 793W Identifying motor neuron transduction efficiencies that are efficacious in SMA mice and achievable by intrathecal delivery in a large animal model. S. Cheng, M. Passini. 794W Differential response to exogenous MeCP2 in mouse models of Rett syndrome. J. Young, V. Camarena, M. Saez, A. Abrams, K. Bayetti, A. Castle, K. Walz. 795W Preclinical trial of trauma-induced osteoarthritis therapy by overexpressing matrix protein and reducing inflammation by gene-transfer. M. Z. C. Ruan, K. Guse, A. Erez, B. C. Dawson, Y. Chen, B. Lee. 796W Towards lentiviral gene therapy for the treatment of MNGIE. R. De Coo, M. Stok, R. Yadak, H. Smeets, N. Van Til, G. Wagemaker. 797W Directing mirna-regulatory PNAs to breast cancer cells with synthetic targeting peptides. Y.-Y. Jin, C.-P. Chen, M. L. Thakur, E. Wickstrom. 798W Effective inhibition of human cytomegalovirus gene expression and lytic replication by DNA-based external guide sequence. H. Li, X. Jia, L. Sun, T. Zhou, Z. Deng. 799W Oncogenic EGFR allele specific inhibition by RNA interference for cancer therapy lacking adverse effects. M. Takahashi, T. Chiyo, T. Okada, H. Hohjoh. 800W Remission induction of spinocerebellar ataxia 6 by systems therapy with medicinal herbs. T. Okabe. 801W Disease progression in MPS IIIA (Sanfilippo syndrome type A) is associated with genotype and age at diagnosis. C. B. Whitley, I. Nestrasil, K. Delaney, R. Cooksley, P. Haslett, C. Richard, E. Shapiro. 802W Therapeutic efficacy of D-penicillamine encapsulated alginate/chitosan nanoparticles in rat model of copper toxicity with neurobehavioral impairments. R. Prasad, A. Pal, S. Attri, B. Thappa, R. Vasishta. 803W High-efficiency gene correction of a Parkinson s disease associated LRRK2 gene variant in patientderived ips cells. B. Schuele, J. Laganiere, S. K. Mak, B. J. Vu, M. Vangipuram, Y. A. Huang, D. E. Paschon, O. Macaranas, A. Flierl, R. Sundararajan, P. D. Gregory, F. D. Urnov, J. W. Langston, H. S. Zhang. 804W Inhibition of CTR1 by antisense oligonucleotides in mouse model for Wilson disease reduces copper accumulation and improves liver pathology. T. R. Grossman, P. Lincoln, M. McCaleb. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

145 POSTER SESSIONS 143 Development in a mouse model of CDH. S. C. Schecter, J. Wu, D. Miniati. 805F Genome-wide identification of human cardiac developmental genes located within regions associated with congenital heart disease. K. D. Ajbro, T. A. Andersen, M. Bak, J. A. Rosenfeld, K. Møllgård, S. C. Eliasson, R. R. Jakobsen, E. Bendsen, N. Tommerup, L. G. Schaffer, K. Lage, l. A. Larsen. 806F Voltage-gated sodium channels are required for proliferation of embryonic myocardium in zebrafish. J. Bennett, D. Stroud, J. Becker, D. Roden. 807F Modeling early heart development in Down syndrome using sibling hesc lines. A. Bosman, A. Letourneau, M. Zuchelli, V. Tohonen, O. Hovatta, S. E. Antonarakis, M. E. Jaconi. 808F Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development. A. de Angelis, A. D Angelo, B. Avallone, I. Piscopo, R. Tammaro, M. Studer, B. Franco. 809F Exome sequencing identifies a single mutation in the CCDC114 gene as the cause for primary ciliary dyskinesia in the Volendam population. A. Onoufriadis, T. Paff, D. Anthony, A. Shoemark, D. Micha, B. Kuit, M. Schmidts, S. Petridi, R. Wilson, C. Hogg, R. Emes, UK10K, E. M. K. Chung, G. Pals, H. M. Mitchison. 810F ALDH1A3 loss of function causes bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm. M. Yahyavi, A. S. De Preux Charles, T. Xiao, T. Bardakjian, A. Schneider, H. Baier, A. Slavotinek. 811F Differential expression of lung function genes by in utero smoke exposure during human lung development. S. Sharma, A. Kho, K. Haley, C. Vyhlidal, R. Gaedigk, L. Kobzik, J. S. Leeder, K. G. Tantisira, S. T. Weiss. 812F The C7orf58 locus is strongly associated with both bone mineral content and density at the pediatric distal radius. B. S. Zemel, M. Li, S. Deliard, C. E. Kim, L. Qu, R. M. Chiavacci, J. M. Lappe, H. J. Kalkwarf, V. Gilsanz, H. Hakonarson, S. E. Oberfield, J. A. Shepherd, S. F. A. Grant. 813F A novel GNAI3 gain-of-function mutation associated with auriculo-condylar syndrome in a Brazilian family. V. L. R. Tavares, T. T. Torres, H. Buermans, C. Masotti, D. F. Bueno, J. A. Horst, R. M. Zechi-Ceide, M. L. Cunningham, M. L. Guion-Almeida, M. R. Passos-Bueno. 814F Non-syndromic cleft lip/palate: A disease driven by deficiency in genomic repair? G. S. Kobayashi, L. A. Cruz, D. Y. Sunaga, D. F. Bueno, P. Francis-West, A. Kutta, B. V. P. Almada, S. G. Ferreira, M. Aguena, L. C. Andrade- Lima, C. F. Menck, M. R. Passos-Bueno. 815F Genetic characterization of osteopenia and bone overgrowth in Marfan syndrome mice. S. Smaldone, J. R. Cook, M. Del Solar, F. Ramirez. 816F Evaluating the genetic disruption of lung hypoplasia 817F The role of FMRP during early steps of neurodevelopment. B. Bardoni, L. Davidovic, B. Mari, O. Khalfallah. 818F rbm24a and rbm24b Are required for normal somitogenesis and craniofacial development and are essential for Notch signaling. S. Maragh, R. A. Miller, S. L. Bessling, W. Huang, M. J. Parsons, A. S. McCallion. 819F Kabuki syndrome: Functional analysis of MLL2 and KDM6A in vertebrate development. P. Van Laarhoven, L. Neitzel, E. A. Geiger, E. H. Zackai, K. B. Artinger, J. E. Ming, T. H. Shaikh. 820F Fibulin-4b is required for cardiovascular and musculoskeletal development as an antagonist of transforming growth factor-beta. Z. Urban, S. M. Khatri, A. B. Maxfield. 821F Three-dimensional study of Ror2-/- and Wnta5-/- mice craniofacial phenotype using two imaging techniques. S. Beiraghi, V. Leon-Salazar, J. Zhang, D. Idiyatullin, M. Garwood, A. S. L. Fok, M. Maga, Y. Yang. 822F Retinal disease gene identification and generation of photoreceptor gene regulatory networks by ChIP-seq analysis of multiple transcription factors. H. Hao, M. Brooks, M. Seifert, A. Swaroop. 823F Genome-wide ChIP-seq analysis to identify mouse Foxl2 binding sites in vivo. M. Marongiu, A. Sbardellati, L. Marcia, A. Meloni, R. Cusano, A. Angius, G. Fotia, F. Cucca, L. Crisponi. 824F Cc2d2a is required for cilia biogenesis. S. Veleri, T. J. Foskett, S. H. Manjunath, A. Longo, M. A. English, P. Liu, J. Lei, C. Gao, R. N. Fariss, R. Sood, R. A. Rachel, P. Liu, L. Dong, A. Swaroop. 825F Prdm16 is required during mouse craniofacial development. B. C. Bjork, F. Schnutgen, L. Furlan, B. Nelson, D. R. Beier. 826F Examination of lungs and kidneys in a mouse model of osteogenesis imperfecta. E. Carter, S. Doty, N. Pleshko, C. Raggio. 827F Pathway analysis by quantitative profiling of gene expression patterns in developing mouse retina. M. J. Brooks, I. Nasonkin, S. Perez, S. Veleri, J. Roger, M. Seifert, A. Swaroop. 828F Essential roles of FGF ligands in endochondral and intramembranous bone development. I. H. Hung, D. M. Ornitz, G. C. Schoenwolf, M. Lewandoski. 829F Taking a different pathway: Notchless plays with p53 and Wnt during embryogenesis. A. C. Lossie, C.-L. Lo, J. B. Sherrill. 830F Developmental defects in the retina of Pias3 POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

146 144 POSTER SESSIONS conditional knockout mice. J. E. Roger, H. Breit, D. Cheng, L. Dong, A. Swaroop. 831F Uncovering the function of TMED2 during trophoblast differentiation. T. Heba, A. Zakariyah, L. A. Jerome-Majewska. 832F Mouse models of neurodevelopmental disorders: Overlap between FoxG1 and MeCP2. S. A. Adams, R. Woods, S. Luu, J. M. LaSalle. 833F Comprehensive characterization of a zebrafish model for pseudoxanthoma elasticum. M. J. Hosen, O. M. Vanakker, A. Willaert, A. Huysseune, P. J. Coucke, A. De Paepe. 834F Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. D. A. Scott, M. J. Wat, T. F. Beck, A. Hernández-García, Z. Yu, D. Veenma, M. Garcia, A. M. Holder, J. J. Wat, Y. Chen, C. A. Mohila, K. P. Lally, M. Dickinson, D. Tibboel, A. de Klein, B. Lee. 835F Generation and characterization of humanized DUF1220 transgenic mice. J. G. Keeney, N. Anderson, D. Restrepo, J. M. Sikela. 836F Overexpression of Sox9 in keratinocytes changes hair follicle cycling in mice. Y. Zhang, Z. H. Zheng, Y. Q. Xu, S. L. Zhou, L. Shi, X. Zhang. 837F Integration of BAC transgenesis, evolutionary conservation, 3C, DNaseHS, and ChIP on chip data identifies a candidate osteoblast enhancer of Bmp2. E. M. Broeckelmann, S. Pregizer, D. P. Mortlock. 838F The role of Filamin b in skeletogenesis and BMP signaling in mice. J. Zieba, A. Sarukhanov, M. Ivanova, A. S. Kim, A. E. Merrill, D. Krakow. 839F The role of SOX7 in cardiovascular development. A. Hernández-Garcia, M. Wat, M. Garcia, T. F. Beck, Z. Yu, R. Schwartz, M. Dickinson, B. Lee, D. A. Scott. 840F Novel mouse models reveal the role of in the development of inner ear phenotypes seen in 1p36 deletions. H. Zaveri, B. J. Kim, O. A. Shchelochkov, F. A. Pereira, A. K. Groves, J. S. Oghalai, M. Justice, B. Lee, D. A. Scott. 841F Xenopus laevis, a model for studying the involvement of HDAC6 in a novel form of chondrodysplasia. K. Massé, C. Blanchard, D. Simon, M. Barillot, P. Helwi, C. Durand, P. Babin, A. Tingaud, P. Thiebaud, N. Thézé, D. Lacombe, B. Arveiler. 842F Genetic interaction between Sox10 and b1 integrins during enteric nervous system development. Y. Watanabe, F. Bondon-Broders, P. Paul-Gilloteaux, B. Prosper, V. Baral, S. Dufour, N. Bondurand. 843F Mowat-Wilson syndrome associated ZEB2 zinc-finger mutations lead to phenotype-correlated impairment of the transcription factor function. J. Ghoumid, L. Drévillon, SM. Alavi-Naini, M. Rio, A. Briand-Suleau, L. Goodwin, P. Raymond, N. Bondurand, C. Yanicostas, M. Goossens, S. Lyonnet, D. Mowat, N. Soussi-Yanicostas, J. Amiel, I. Giurgea. 844F Methylation status of a vault RNA, VTRNA2-1 (MIR886), is co-segregated with neural tube defects in Chinese Han families. W. Li, C. Cai. 845F A high frequency of genomic disorders in patients with congenital kidney malformations. S. Sanna-Cherchi, K. Kiryluk, K. E. Burgess, M. Bodria, M. G. Sampson, D. Hadley, S. N. Nees, M. Verbitsky, V. J. Lozanovski, A. Materna-Kiryluk, B. J. Perry, N. Ristoska- Bojkovska, M. Zaniew, H. Flogelova, K. Drnasin, V. Goj, R. P. Lifton, L. N. Clark, M. Saraga, A. F. Dominiczak, L. Gesualdo, Z. Gucev, L. Allegri, A. Latos-Bielenska, D. Cusi, F. Scolari, V. Tasic, H. Hakonarson, G. M. Ghiggeri, A. G. Gharavi. 846F Genome-wide screening and proteome analysis of developing mice diastema region. J. Y. Kim, W. J. Sohn, Y. M. Chae, Y. J. Jin, B. J. Han, Y. K. Lee, J. K. Jung, S. H. Kim, M. O. Kim, J. Y. Suh, S. Lee. 847F Foxl2, as Sox9, is involved in skeletal development through its role in cartilage maturation and bone mineralization. L. Marcia, A. Puddu, M. Lovicu, R. Piras, D. Schlessinger, A. Forabosco, M. Uda, L. Crisponi, M. Marongiu. 848F Expression and functional analysis of MMACHC during mammalian development. M. Moreno-Garcia, M. Pupavac, D. S. Rosenblatt, L. A. Jerome-Majewska. 849F Three novel human VANGL1 gene mutations in 144 Slovakian, Romanian and German patients with neural tube defects. O. Bartsch, I. Kirmes, A. Thiede, S. Lechno, H. Gocan, I. S. Florian, T. Haaf, U. Zechner, L. Sabova, F. Horn. 850F Identification of a new ENU-induced mouse model for neural tube defects. S. Lachance, M. C. Guyot, M. Justice, Z. Kibar. 851F Involvement of sperm micrornas in unidentified male factor infertility. M. G. Katz-Jaffe, B. R. McCallie, J. Stevens, W. B. Schoolcraft. 852F Comparison of the osteogenic potential of adult stem cells from different sources. R. Fanganiello, F. A. A. Ishiy, L. P. Capelo, M. Aguena, D. F. Bueno, B. V. P. Almada, M. T. Martins, M. R. Passos-Bueno. 853F The NINDS repository s publicly accessible collections of highly characterized induced pluripotent stem cells and primary fibroblasts. C. Tarn, K. Fecenko- Tacka, M. O Rourke, K. Panckeri, C. Rhoda, S. Heil, K. Hodges, M. Sutherland, R. Corriveau, M. Self. 854F Deciphering the Hmx1 pathway in the mouse retina. A. Boulling, D. F. Schorderet. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

147 POSTER SESSIONS 145 Cytogenetics Kim, J. Kim, S. Yoon. 855W Evaluation of vitamin B12 effects on DNA damage induced by paclitaxel. O. Khabour, K. Alzoubi, M. Khader. 856T Evaluation of vitamin B12 effects on DNA damage induced by pioglitazone. K. Alzoubi, O. Khabour, N. Hussain, S. Al-azzam, N. Mhaidat. 857W Cytogenetic study of induced pluripotent stem cells derived from senescent cells of elderly persons. F. Pellestor, L. Lapasset, F. Becker, J. Puechberty, A. Schneider, S. Taviaux, P. Sarda, J. M. Lemaitre, G. Lefort. 868T Detection of donor cells with a clonal abnormality 20 years after transplantation: Is this evidence of donor cell leukemia? G. Velagaleti, V. Ortega, D. Means. 869W Xp22.31 duplications: Indistinctly benign or inconspicuously pathogenic? E. D. Esplin, B. Li, V. Cox, R. Clark, C. Curry, A. Slavotinek, L. Hudgins. 870T Refining the critical region associated with Jacobsen syndrome through the identification of a small interstitial deletion at 11q23.4-q24.1 by CGH array. S. Raskin, H. Salomão, F. R. Faucz, A. Bonalumi, J. Souza, P. Grossfeld, J. Rosenfeld, V. S. Sotomaior. POSTER SESSIONS 858T Secondary aneuploidy in samples of balanced chromosomal rearrangements: No increased rate detected. O. Reish, R. Amiran, A. Kanesky, S. Gerafi, M. Mashevich. 859W Telomere loss in people with Down syndrome with and without mild cognitive impairment more than doubles after T-lymphocytes have been frozen in liquid nitrogen and short-term cultured with PHA. E. Jenkins, L. Ye, S. Krinsky-McHale, W. Zigman, N. Schupf, W. Silverman. 860T Study of aging consequences in human mesenchymal stem cells during tandem passages. H. Pour-Jafari, B. Pourjafari, F. Talebzadeh, A.R. Zamani, M. Hosseinipanah, H. Fazli. 861W Telomere structure and function in Cornelia de Lange syndrome preserved despite evidence for premature aging. A. D. Kline, H. Riethman, K. Ravichandran, M. Kaur, A. Kimball, I. D. Krantz. 862T Identifying genes associated with hearing loss through chromosomal translocations. B. B. Currall, N. G. Robertson, A. M. Lindgren, M. E. Talkowski, C. C. Morton. 863W An unbalanced whole-arm translocation der(1;13)(q10;q10) in Burkitt lymphoma. Y. Seok, S. J. Park, S. J. Kim, E. Y. Lee, J. R. Choi. 864T Two sibs with trisomy 2q 34-qter. Y. Wang, X. He, Y. Zhou, C. Wang, X. Yang, L. Zhu, Y. Yang, H. Wu, X. Liu, D. Shrestha, C. Lee, E. Carter, J. Martinez. 865W Subtelomere sequences on human acrocentric chromosome short arms. S. Baaj, A. Clarke, P. Thakkar, E. Chan, M. Khan, S. Chawla, J. Leya, J. Doering. 866T Multiple chromosomal losses and gain including the deletion of 12p13 region defined by cytogenetic microarray in a case of simultaneous T-cell prolymphocytic leukemia and renal cell carcinoma. J. Kim, J. Moon, M. Nam, J. Kim, S. Yoon. 867W A case of therapy-related acute myeloid leukemia with t(19;21)(q13.4;q22). M. Nam, J. Moon, J. 871W Triploid-diploid mixoploidy presenting with gastrointestinal complaints and growth failure. F. I. Bhamani, G. L. Elsner, M. B. Beg, R. R. Lebel. 872T Trisomy 14 mosaicism in a girl: Clinical cytogenetic and molecular analysis. R. Cruz-Alcivar, E. Lieberman, C. Salas, M. P. Navarrete Meneses, C. Cantú, K. Buiting, C. Durán-McKinster, V. Del Castillo-Ruiz, P. Pérez-Vera, Alcivar. 873W Low Klinefelter mosaicism in a male with azoospermia detected by FISH. P. A. Delgado, B. Crandall, N. Rao, P. Bui, C. A. Tirado. 874T A balanced translocation t(2;16)(q35;q24.1) associated with limb defects and craniofacial dysmorphism through presumptive misregulation of the IHH (Indian hedgehog) gene. A. C. S. Fonseca, S. Antonini, A. Bonaldi, P. A. Otto, A. M. Vianna-Morgante. 875W Detection of parental origin and meiotic error type in abortions and born alive with aneuploidies. S. Frias, S. P. Mendoza-Constantino, S. Sánchez, L. Torres, B. Molina, P. Grether, D. G. Mayén, R. Meléndez, E. Yokoyama, C. Villarroel, E. Lieberman, V. del Castillo. 876T Non-mosaic trisomy 9: A new case report. T. Greer, B. Powell, N. Hauser, J. Shen, L. Mahon, R. Owen, T. Sahoo, A. Anguiano, F. Boyar. 877W A unique phenotype of 2q24.3-2q32.1 duplication: Infantile-onset epilepsy without mesomelic dysplasia. B. Lim, J. Ko, J. Choi, M. Woo, J. Chae. 878T Importance of chromosome breakage testing in Fanconi s anemia: Involvement of specific chromosomes. V. Mohan, G. Archana, T. Preethi. 879W Collaborative multicenter cytogenetic study of microdeletion syndromes: Brazilian Network. M. Riegel, N. Barcellos, R. Mergener, R. Gus, R. Giugliani, Brazilian Network Members. 880T Iidentification of chromosome aberration in fragile X syndrome patients in Tamil Nadu population South India using cytogenetic techniques. A. Sundramoorthy. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

148 146 POSTER SESSIONS 881W A defect in the TUSC3 gene is associated with syndromic intellectual disability. A. Battaglia, L. Bernardini, S. Loddo, V. Doccini, V. Parisi, A. Novelli, T. Filippi. 882T An apparently balanced translocation t(5;6) (q35.2;p22.3) disrupting the CDKAL1 gene in a girl with clinical features of Silver-Russell syndrome. A. Bonaldi, S. A. S. Fonseca, A. C. S. Fonseca, A. M. Vianna- Morgante. 883W Report of the first case of robertsonian translocation in Down-Turner mosaicism (mos 45, X / 46,XX, 1 21, rob (21;21)(q10;q10)) with clinical evolution. M. F. Carvalho, E. F. Carvalho, K. M. Carvalho. 884T Copy number variation in imprinted regions: Narrowing critical imprinted intervals. B. C. Ballif, N. J. Neill, J. E. Fox, M. Descartes, F. Brewer, T. Stroud, J. B. Ravnan, L. G. Shaffer, J. A. Rosenfeld. 885W Detection of partial tetrasomy 12pter-12p11.22 region by array CGH and FISH in a newborn with multiple congenital abnormality. S. Ebrahim, D. Stockton, A. M. Jay, M. Hankerd, D. Schloff, M. Kristofice, A. N. Mohamed. 886T Duplication Xq28 and deletion of SHOX in a family with short stature, intellectual and developmental disability. E. F. Andersen, E. E. Baldwin, S. Ellingwood, R. Smith, A. N. Lamb. 887W Deafness and infertility syndrome: An underdiagnosed cause of hearing loss? U. Aypar, N. Hoppman-Chaney, D. Babovic-Vuksanovic. 888T Identification of 90 first-reported abnormal chromosome karyotypes in population of Eastern China with G-band and/or C-band banding techniques. L. Li, S. Zheng, J. Zhang, W. Fan. 889W Genotype-phenotype correlation in individuals with MEF2C mutations and/or 5q14.3-q15 deletion syndrome. E. Pallesi-Pocachard, J. Andrieux, A.-M. Bisgaard Pedersen, A. Carabalona, R. Steensbjerre Moller, P.-H. Kaad, E. Parrini, D. Heron, B. Keren, B. Benyahia, M. Walsh, N. Sobreira, D. Batista, V. Malan, A. Represa, T. Wang, R. Guerrini, M. Kirchhoff, C. Cardoso, M. Holder- Espinasse. 890T Full-blown expression of paternally inherited Fabry disease in a young woman due to complete skewed X-inactivation of a der(x)t(x;y)(p22.13;p11.2) mat.ishyp11.3(sry1). F. Vialard, K. Benistan, C. Beldjord, S. Heide, D. Molina-Gomes, F. Jabbour, P. De Mazancourt, D. P. Germain. 891W Whole-genome array-cgh screening in patients with autosomal dominant sensorineural hearing loss points to novel susceptibility loci. E. L. Freitas, D. T. Uehara, V. G. L. Dantas, A. G. Silva, A. C. Krepischi, R. C. Mingroni-Netto, C. Rosenberg. 892T Comparison of HER2/neu gene amplification assessment by fluorescent in situ hybridization and immunohistochemistry in Iranian breast cancer patients. M. Moradi Chaleshtori, Z. Hojati, H. Teimori, S. H. Ramazi. 893W Array CGH of normal karyotype plasma cell neoplasms reveals hidden recurrent and individual genomic copy number alternations. G. Tang, H. Zhang, C. Shaw, P. Hixson, W. Bi, C. Borgan, M. Coyle, D. Freppon, D. Vo, J. O Hare, J. Gonzalez Berjon, C. Chang, S. Cheung, A. Patel. 894T Interstitial duplication/triplication 20q13.2: Clinical, cytogenetical and genetical characterization. A. Briand-Suleau, J. Martinovic, L. Tosca, B. Tou, S. Brisset, J. Bouligand, V. Delattre, I. Giurgea, C. Goumy, C. Francannet, A. Guiochon-Mantel, A. Benachi, J. Vermeesch, G. Tachdjian, P. Vago, M. Goossens, C. Métay. 895W Array-based copy-number analysis in patients associating obesity and developmental delay/learning disabilities and additional features. C. D Angelo, I. Kohl, C. de Castro, C. Kim, D. R. Bertola, C. Lourenço, A.-B. Perez, C. Koiffmann. 896T Complex genomic reorganization in microdeletions/microduplications syndromes and molecular mechanisms for formation. L. Kulikowski, F. Piazzon, E. Zanardo, R. Dutra, A. Dias, M. Oliveira, M. Moreira, G. Novo-Filho, M. Basso, C. Negretto, A. Zandoná, M. Melaragno, C. Kim. 897W Gene mapping in the Finnish national collection of balanced translocations and inversions. T. M. Luukkonen, M. Pöyhönen, P. Ellonen, S. Lagström, J. H. Lee, K. O. J. Simola, K. Aittomäki, J. Ignatius, R. Salonen, A. Palotie, J. D. Terwilliger, T. Varilo. 898T Combined exon array CGH plus SNP genome analyses for optimized clinical diagnostics. A. Patel, W. Bi, C. Shaw, S.-H. Kang, A. N. Pursley, S. Lalani, P. Hixson, T. Gambin, A. C-H. Tsai, H.-G. Bock, M. Descartes, F. Probst, F. Sacaglia, A. L. Beaudet, J. R. Lupski, C. Eng, S. W. Cheung, C. Bacino, J. Wiszniewska. 899W Facing current diagnostic challenges in array copy number analysis. F. B. Piazzon, R. Dutra, E. Zanardo, A. Dias, M. Moreira, G. Novo-Filho, D. Christofolini, V. Meloni, M. Oliveira, A. Zandoná-Teixeira, M. Basso, C. Negretto, C. Moreira-Filho, M. Melaragno, C. Kim, L. Kulikowski. 900T Genetic analyses of Korean patients with unexplained mental retardation and developmental delay using the multiple ligation-dependent probe amplification. S. Shim, S. Sung, S. Park, K. Kang, M. Lee, S. Lyu, D. Cha, M. Kim. 901W Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder. A. C. Tabet, A. Verloes, M. Pilorge, B. Benzacken, C. Betancur. 902T The identification of submicroscopic gains and losses at the breakpoints of apparently balanced rearrangements. B. Torchia, J. A. Rosenfeld, L. G. Shaffer. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

149 POSTER SESSIONS W Complex phenotype associated with 17q21.31 microdeletion. A. Pic-Taylor, H. Dornelles-Wawruk, C. Rosenberg, A. C. Krepischi, H. P. N. Safatle, I. Ferrari, J. F. Mazzeu. 904T Association of a deletion downstream of NKX2-1 with benign hereditary chorea: Transfer of a benign CNV to likely pathogenic category. U. Surti, J. Liao, K. Coffman, J. Hu, M. Sathanoori, S. Yatsenko, S. Madan- Khetarpal, M. McGuire, A. Rajkovic. 905W Chromosomal microarray analysis in 22q11.2 deletion syndrome: New insight to LCR-mediated rearrangement. A. Tsai, D. Klepacka, M. Dodge. 906T Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals: Results from four years clinical application for over 7,800 patients. J. W. Ahn, S. Bint, A. Bergbaum, K. Mann, R. P. Hall, C. Mackie Ogilvie. 907W Identification of the critical region for 7q32q34 deletion syndrome in a 1.5 Mb region at 7q32.3q33. T.- J. Chen, J. Hoffman, K. Phelan, H. C. Andersson. 908T Clinical implementation of whole-genome array CGH in Korean patients with pediatric neurologic diseases and multiple congenital anomalies. E. Shin, K. Lee, B. Eun. 909W Chromosome and segmental imbalances detected by array CGH in samples of product of conception: a pilot study. S. Xu, X. Wang, W. Xu, F. Gong, J. Lee, X. Lu, S. Li. 910T Hemophilia A and trigonocephaly in a male with a complex chromosome rearrangement involving chromosomes X and 1. J. Liu, J. Chernos, R. Lamont, R. Perrier, B. Argiropoulos. 915W Our experience of clinical implementation of whole-genome array CGH as a first-line test in postnatal cases. V. Malan, J.-M. Lapierrre, M.-C. de Blois, C. Ozilou, S. Nusbaum, O. Raoul, M. Le Merrer, A. Harroche, R. Caumes, G. Baujat, F. Cartault, M. Rio, J. Amiel, S. Lyonnet, V. Cormier-Daire, A. Munnich, M. Vekemans, S. Romana. 916T Copy number variation in hereditary colorectal cancer. A. L. Martin, B. A. Talseth-Palmer, D. M. Grice, G. N. Hannan, R. J. Scott. 917W Using macrocephaly as a quantitative endophenotype in autism patients to enhance the identification of novel candidate genes. J. Reiner, D. Moreno-De-Luca, E. B. Kaminsky, D. H. Ledbetter, C. L. Martin. 918T Study of genomic changes in children with intellectual and developmental disabilities using chromosomal microarray. P. Sharma, N. Gupta, M. R. Chowdhury, R. Shukla, M. Ghosh, M. Kabra. 919W Association of rare copy number variations and risk for Alzheimer s disease. D. Villela, D. Schlesinger, C. K. Suemoto, L. T. Grinberg, A. C. Krepischi, C. Rosenberg. 920T Coronary artery disease genomics: CNV findings in the group of patients from Lithuania. V. Kucinskas, I. Pepalytė, A. Pranculis, l. Bagdonaite, V. Dzenkeviciute, Z. Kucinskiene. 921W An unbalanced translocation causing a 21q11.2 deletion in an infertile male. I. Holm, K. Eiklid, C. Hauge, V. Rønning, H. Wold. 922T Single cell copy number profiling in a 24-hour workflow with oligo acgh. P. Costa, S. Fulmer-Smentek, A. De Witte. POSTER SESSIONS 911W Identification of cryptic genomic imbalance in congenital and development abnormalities: An institutional experience. F. J. Sheth, J. Andrieux, M. Desai, J. Sheth, T. Mampilly, G. Mampilly, C. Neeradha, J. Vijayalakshmy, K. Godbole, S. Desai. 912T Lack of evidence for biparental inheritance of copy number variation contributing to pathogenic features in a series of clinical microarray cases. C. E. Cottrell, S. Kulkarni, H. Al-Kateb, M. Evenson, S. Anderson, D. Lamb Thrush, S. Hashimoto, A. K. Bailes, L. Erdman, A. McKinney, C. Weber, J. Weslow-Schmidt, S. Ramsey, C. Astbury, S. Reshmi, J. M. Gastier-Foster, R. E. Pyatt. 913W 7q33 Deletion in a family with intellectual disability, dysmorphic features and behavioral changes. A. Fortuna, F. Lopes, S. Sousa, J. Silva, C. Gomes, P. Maciel. 914T Investigation of the parental origin and genomic mechanisms involved in de novo pathogenic CNVs in congenital disorders. S. Hayashi, M. Naganawa, D. T. Uehara, J. Inazawa. 923W Four new polymorphic CNVs in cohort of 100 Bulgarian patients with intellectual disability/ congenital malformations and autism. S. P. Hadjidekova, D. M. Avdjieva-Tzavella, B. B. Rukova, D. V. Nesheva, R. S. Tincheva, D. I. Toncheva. 924T First detection of clonal trisomy 4 cells from 3 cases of ossifying renal tumor of infancy. J. Liu, M. Guzman, B. Pawel, D. Pezanowski, J. Roth, G. Halligan, J. de Chadarévian1. 925W 17p13.3 Microduplication syndrome: Report of additional findings. L. Mutesa, E. Chabchoub, J.- H. Caberg, A.-C. Hellin, M. Jamar, H. Peeters, G. van Buggenhout, G. Pierquin, J. Andrieux. 926T Chromosome aberrations among 4617 chromosomal studies at a pediatric Mexican hospital in 19-year period of time. J. M. Aparicio, M. L. Hurtado, M. P. Barrientos, W. B. San Martin, A. F. Nuñez, R. G. Ruiz, H. T. Gomez, S. P. Rodriguez, R. M. Zamudio, F. L. Cuellar, M. A. Cubillo, F. P. Sierra, M. G. Palma, H. O. Chavez, S. M. Chatelain. 927W Study of sodium pertechnetate on bone marrow W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

150 148 POSTER SESSIONS cells of mice, in vivo: Micronucleus assay. I. Aranha. 928T Cryptic translocactions of acrocentrics chromosomes in normal couples and couples with aneuploid miscarriages. S. Ramos, O. Castro, B. Molina, M. Angeles, P. Grether, D. Mayen, S. Frias. 929W A comparative cytogenetic resolution analysis between classic chromosome aberrations and cytokinesis-block micronucleus cytome assay. R. Saraswathy. 930T In vitro assessment of genotoxicity and cytotoxicity of methyl mercury chloride. S. Tayel, M. Naim Bushra, A. Abd Ruboh, S. Hilal, A. El Agwany. 931W The deletion 5q in myelodysplasia: Correlation of cytogenetic, peripheral blood and bone marrow findings. V. M. Srivastava, S. Yuvarani, U. Sitaram, A. Nancy, R. Ahmed, A. Abraham, A. Vishwabandya, B. George, V. Mathews, A. Srivastava. 932T The quality of the bone marrow sample for successful conventional cytogenetic analysis is important. E. Tegg, E. Raik. 933W Parental interstitial translocation underlie deletion in Langer-Giedion syndrome. B. Min, M. Seo, T. Cho, W. Park. 934T Concurrent deletions and duplications at 1p36. M. Gajecka, J. Karolak, J. Shen, C. Glotzbach, L. G. Shaffer. 935W Multiple structural abnormalities involving 4q33 in a spontaneous abortion. M. B. Sheridan, C. Wigner, D. A. S. Batista, K. Turner, C. DeScipio. 936T When transmission modifies the complexity of familial chromosome rearrangements. V. Gatinois, G. Lefort, C. Coubes, J. Puechberty, A. Schneider, S. Taviaux, M. Tournaire, M. Di Nicola, M. Girard, P. Sarda, F. Pellestor. 937W Evidence of a trisomy 9 rescue event in amniotic fluid. L. E. Northrop, M. J. Macera, V. Johbanputra, B. Levy. 938T Large-scale sequence analysis of translocation breakpoint junctions. B. Weckselblatt, M. K. Rudd. 939W Analysis of the nucleotide sequence diversity within the SUZ12 gene and its pseudogene SUZ12P as a means to investigate the signature of nonallelic homologous gene conversion. T. Mussotter, J. Vogt, K. Bengesser, J. Högel, D. N. Cooper, H. Kehrer-Sawatzki. 940T An examination of the origin of the excess of males liveborn with trisomy 21. C. Walker, S. Gandy, J. Jones, A. Harden, T. Naluai-Cecchini, E. Cheng, S. Sherman, T. Oliver. 941W Down - Turner mosaicism. L. Martelli, C. G. Picanço, C. H. P. Grangeiro, C. S. Pereira, R. M. Scaparo, S. A. Santos, J. Huber, E. S. Ramos. 942T Accurate, precise, and tunable cytogenetics with next-generation sequencing. M. A. Eberle, T. Royce, F. Kaper, J. Cottrell, J.-B. Fan. 943W Two new cases of interstitial 6q deletion, associated to microcephaly, corpus callosum hypoplasia and further brain and cerebellar malformations. V. Parisi, S. Loddo, L. Travaglini, A. Ferraris, G. Vitiello, G. Zanni, L. Bernardini, M. L. Di Sabato, M. C. Digilio, A. Novelli, E. Del Giudice, A. Rossi, E. Bertini, B. Dallapiccola, E. M. Valente. 944T Ring chromosome 13: An eventual risk for intellectual disability, surdity, congenital malformations and leukemia. I. Ben-Abdallah-Bouhjar, H. Hannachi, S. Mougou-Zerelli, H. Ben-Khelifa, A. Labalme, D. Sanlaville, H. Elghezal, A. Saad. 945W Use of oligo-snp array for the detection of abnormalities in CLL. N. C. Christacos, M. L. Slovak, M. A. Sanidad, Y. Hsu, J. C. Kelly, P. N. Mowrey, D. M. Jones. 946T Array-based comparative genomic hybridization identifies unique copy number alterations in diffuse large B-cell lymphoma subtypes: A review of published microarray data. R. Garcia. 947W Subtype of ETV6/ABL1 fusion transcript is associated with different leukemia phenotype. A. Kwon, J. Park, J. Lim, Y. Kim, K. Han, S. Lee, H. Kim, W. Min, J. Kim, M. Kim. 948T Detecting chromosomal inversions using chromatid painting strategies: Applications. F. A. Ray, E. Zimmerman, M. N. Cornforth, E. H. Goodwin, J. S. Bedford, S. M. Bailey. 949W Efficacy and implementation of a SNP microarray for the evaluation of patients with multiple myeloma. S. Schwartz, R. D. Burnside, J. McElligott, I. Gadi, J. Kesler, V. Jaswaney, K. Phillips, J. Tepperberg, B. Williford, P. Papenhausen. 950T A de novo intragenic deletion of AUST2 in a patient with autism spectrum disorder. S. Kantarci, I. E. Amarillo, J. David, E. Vilain, X. Li. 951W 22 q 11.2 Syndrome in a group of patients who attended Operation Smile Foundation in Colombia, between 2005 and I. Briceno, J. C. Martinez, A. Venegas, O. Moreno, M. Sarmiento, S. Bohorquez, M. Montiel, A. Patino. 952T Incidence of mosaicism detected by exontargeted, high-resolution array comparative genomic hybridization in 10,362 consecutive cases with special emphasis on detection of complex unbalanced structural rearrangements. W. Bi, J. Pham, C. Shaw, P. Hixson, A. Ester, A. Pursley, K. Plunkett, P. L. Magoulas, S.-H. L. Kang, S. R. Lalani, C. Bacino, P. Stankiewicz, A. Patel, S. W. Cheung. 953W A cryptic derivative chromosome 12 detected by oligo-snp array. Z. Dai, N. C. Christacos, S. Schonberg, J. Kelly, E. Wallenhorst, K. Sullivan, C. Adams, Y. Hsu, H. Walker, T. Simanivanh, P. Mowrey. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

151 POSTER SESSIONS T GLUT1 deficiency and chromosome microarray analysis. A. J. Dawson, A. Mhanni, F. Booth, D. Bernier, M. Tomiuk, J. Hartley, M. Strecker, K. Hovanes. 955W Clinically relevant mosaic findings in a total of 9,605 patients and parents by using genome-wide high resolution SNP array analysis in constitutional diagnosis. N. de Leeuw, J. Y. Hehir-Kwa, B. H. W. Faas, T. K. Rinne, M. J. E. Kempers, S. A. de Munnik, N. F. A. Leijsten, G. C. Machielsen, S. L. J. van Gessel, M. Wunderink, M. J. G. Banning, R. van Beek, M. del Rosario, B. B. A. de Vries, D. F. C. M. Smeets, R. Pfundt. 956T Genomic differences between spontaneously aborted fetuses and live-born children with 45,X monosomy. J. Domínguez Ortiz, L. Torres, S. Sanchez, V. del Castillo, L. Orosco, A. Carnevale, P. Grether, D. Mayen, S. Frias. 957W Characterization of a rare Mb duplication of Xp21.2p22.2. M. J. Macera, E. Bornstein, V. Aggarwal, L. Northrop, M. Shirazi, A. Sorbrino, B. Levy, D. Warburton, V. Jobanputra. 966T Mechanism-based analysis of human cell lines of Prader-Willi syndrome. Z. Tang, D. Berlin, M. Wineburg, A. MacMillan, D. Altamuro, L. Toji, C. Beiswanger, S. Madore, N. Gerry. 967W A child with Pitt-Hopkins syndrome and maternal somatic mosaicism at 18q21.2. K. Doudney, V. Bickley, M. Robertson, J. Watt, J. Taylor, A. Kidd, P. George. 968T Microarray benefits diagnostic pregnancy loss studies. D. L. Pickering, B. J. Dave, D. M. Golden, A. A. Haggerty, D. L. Bishay, R. L. Smith, S. A. Fisher, W. G. Sanger. 969W Method comparison study of the Illumina InfiniumDx CytoSNP-12 assay for the detection of chromosomal abnormalities in DNA extracted from peripheral blood. M. Porter, R. Golshani, J. Fabian, M. Harris. 970T A CML case with normal karyotype and positive BCR/ABL1 fusion. C. A. Tirado, J. W. Boles, J. Ochoa, R. Collins. POSTER SESSIONS 958T Single nucleotide polymorphism-based microarray comparison for detection of constitutional copy number variation and absence of heterozygosity. H. Mei, S. A. Scott, H. M. Kearney, D. del Gaudio, J. D. Weisfeld-Adams, M. P. Wasserstein, S. Das, N. Cohen, L. Edelmann. 959W Atypical copy number abnormalities in patients with suggestive phenotype of 22q11.2 deletion syndrome. M. C. Molck, T. P. Vieira, I. C. Sgardioli, M. Simioni, A. C. Xavier, J. Souza, V. L. Gil-da-Silva-Lopes. 960T Mosaicism in live born and spontaneous abortions with trisomy 13, 18, 21 and monosomy X. S. Sánchez, P. Grether, D. G. Mayén, B. Molina, M. J. Zavaleta, J. Domínguez, R. Meléndez, S. Frias. 961W Array-CGH analysis in patients with Goldenhar syndrome. P. A. C. Santos, E. L. Freitas, H. P. N. Safatle, C. Rosenberg, I. Ferrari, S. F. Oliveira, J. F. Mazzeu. 962T Complex rearrangements involving five chromosomes and at least fourteen breaks. J. Wang, B. Huang, R. Habibian, A. Hajianpour. 963W Trisomy Xp and partial tetrasomy Xq resulted from gain of a rearranged X chromosome in a female fetus: Pathogenic or not? M. Yiu, Z. Qi, A. Ki, K. Hashimoto, M. Ernster, J. Yu. 964T A de novo 0.24-Mb microdeletion of 16q24.3 encompassing ANKRD11 in a patient with KBG syndrome. H.-J. Cho, E.-J. Seo, J.-H. Lim, J.-O. Lee, H.- W. Yoo, C. K. Cheon. 965W The evaluation of subtelomeric fluorescent in situ hybridization analysis of idiopathic mental retardation / multiple congenital anomaly cases. B. Durmaz, E. Karaca, A. Durmaz, T. Atik, H. Akin, O. Cogulu, F. Ozkinay. 971W Computational methods for detecting wholegenome triploid samples with Agilent CGH1SNP arrays. A. Vadapalli, B. J. Peter, A. Ashutosh, J. Ghosh, B. Curry, A. Rajkovic, U. Surti, S. A. Yatsenko. 972T Genome-wide resolution study of CNV detection by the CytoScan HD Cytogenetics Array through a large-scale experiment. Y. S. Wang, A. H. Roter. 973W A new case of inverted duplication with terminal deletion of chromosome 12p characterized by FISH and SNP array analysis. E. Pipiras, B. Jeandidier, S. Chantot-Bastaraud, B. Benzacken, A. Delahaye. 974T GISH analysis of genome discrimination in two interspecific hybrid of sweet potato. Z. Li. 975W Latest innovations in oligo FISH enable high resolution detection of chromosomal aberrations. M. Ruvolo, V. Kulkarni, B. Mullinax, A. Bergstrom Lucas, P. Tsang, N. Faravashi, A. De Witte, M. Srinivasan, E. LeProust, S. Fulmer-Smentek. 976T Deletion 2q24.1q24.2 in a boy with generalized hypotonia and developmental delay: Further delineation. V. del Castillo, E. Yokoyama, C. Villarroel, J. L. Castrillo, S. Avila, S. Sánchez, B. Molina, S. Frías. 977W SNP arrays provide incremental, clinically significant information for patients undergoing chromosome microarray testing. V. Aggarwal, O. Nahum, B. Marmol, K. Anayane-Yeboa, B. Levy. 978T Non-mosaic duplication of chromosome 6p in a child, inherited from his mother with a mosaic unbalanced der(14)t(6;14) (6pter 6p22.3::14p13 14qter). S. M. Bain, J. K. Nicholl, W. Waters, A. H. Attwood, J. Samuel, T. A. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

152 150 POSTER SESSIONS Hocking, S. G. Brown, E. A. Haan, S. Yu. 979W Diagnostic array analysis and the necessity of high quality SNP information. R. Pfundt, J. Hehir- Kwa, N. Leijsten, S. van Gessel, M. Wunderink, T. Machielsen, R. van Beek, M. Banning, M. Rosario, N. de Leeuw. 980T Copy-number variation and UPD(16) mosaicism in a patient with apple peel intestinal atresia, ocular anomalies, microcephaly and bone-marrow failure. F. A. T. de Vries, Y. van Bever, I. M. Appel, H. Kart, L. J. C. M. van Zutven, H. B. Beverloo. Cancer Genetics 981W Tumor suppression in Apc Min/1 mice by the prostaglandin D 2 receptor PTGDR. H. Lin, A. Kwong, O. Lee, V. Buslon, S. French, E. Salido. 982T Effects of Western-style diet and genetic predisposition on the protein expression and cancer susceptibility in normal colonic mucosa. S. Lowndes, D. Dermadi Bebek, M. Pussila, N. Reyhani, L. Sarantaus, M. Nyström. 983F The Jackson Laboratory Rare and Orphan Disease Center. S. Rockwood, C. Lutz, K. Fancher, A. Picard, M. Sasner, L. Reinholdt, S. Murray, D. Bergstrom, J. Morgan, L. Donahue, GRS Team. 984W Genetic differences in transcript responses to low-dose ionizing radiation identify tissue functions associated with breast cancer susceptibility. A. J. Wyrobek, F. Marchetti, S. Bhatnagar, N. Duru, J. Han, Z. Hu, J.-H. Mao, J. W. Gray, A. M. Snijders. 985T Association of the HLA-G gene polymorphisms with cervical cancer risk. T. Chang, Y. Yang, Y. Lee, T. Chen, S. Chang, W. Lin. 986F Association of the HOXB13 G84E variant with familial, sporadic, and aggressive prostate cancer: The Mayo Clinic experience. M. S. DeRycke, L. S. Tillmans, S. K. McDonnell, S. M. Riska, J. Xu, Y. W. Asmann, D. J. Schaid, S. N. Thibodeau, International Consortium for Prostate Cancer Genetics. 987W The mir-29 family of microrna genes and let-7i associate with gastric cancer in European populations: Results from the EPIC-EURGAST study. Y. Espinosa- Parrilla, X. Muñoz, C. Bonet, N. García, A. Venceslá, E. Riboli, C. A. González, N. Sala on behalf of EPIC Gastric Cancer Working Group. 988T 3 UTR variation in PTEN and PTENP1 : Implications for microrna binding. B. G. Hernandez, C. LaViolette, T. Begay, J. A. Wilder. 989F Replacement therapy for lung adenocarcinoma risk in never-smoking women. C. Hsiao, K. Chen, G. Chang, Y. Tsai, W. Su, Y. Chen, M. Huang, C. Hsiung, C. Chen, P. Yang, GELAC Study Group. 990W Application of molecular diagnostic techniques on the study done on phosphatase and tensin homologue deleted on chromosome 10 (PTEN). R. Issa. 991T Validation, fine-mapping, and characterization of six genes related to testicular germ cell tumor in a large Swedish-Norwegian case-parent, case-control sample. R. Karlsson, W. Kristiansen, K. E. Andreassen, E. L. Aschim, R. M. Bremnes, O. Dahl, S. D. Fosså, O. Klepp, C. W. Langberg, A. Solberg, S. Tretli, P. K. E. Magnusson, H.-O. Adami, T. B. Haugen, T. Grotmol, F. Wiklund. 992F Genome-wide germline DNA autosomal copy number variation analysis in Finnish BRCA1/2-founder mutation-negative hereditary breast and/or ovarian cancer individuals. K. M. Kuusisto, O. Akinrinade, M. Vihinen, S.-L. Sallinen, J. Schleutker. 993W Mediator complex subunit 12 (MED12) mutations in uterine leiomyosarcomas. M. M. McGuire, M. Jones, G. Trucco, U. Surti, R. P. Edwards, A. Rajkovic. 994T Association of breast cancer risk factors and HLA-G gene indel 14bp polimorphyms in a Brazilian population. Y. C. N. Muniz, M. Damiani, L. D. Hausmann, B. S. Almeida, B. Fernandes, R. T. Simıes, A. R. Marrero, I. R. Souza. 995F Fine-mapping of prostate cancer susceptibility locus 11q13.5. R. Nurminen, R. Lehtonen, T. L. Tammela, T. Wahlfors, J. Schleutker. 996W Role of copy number variants in the nucleotide excision repair pathway genes and breast cancer risk in Puerto Rican women. A. Pacheco Torres, J. Matta, J. Dutil. 997T Screening of Finnish RAD51C founder mutations in prostate and colorectal cancer patients. L. M. Pelttari, R. Nurminen, A. Gylfe, L. Aaltonen, J. Schleutker, H. Nevanlinna. 998F Exome sequencing in a familial testicular germ cell tumor kindred. K. A. Schrader, S. Shah, V. Joseph, R. Murali, R. Rau-Murthy, K. Sarrel, I. Dolgalev, S. Cheguri, C. Manschreck, N. Socci, A. Viale, A. Heguy, G. Bosl, D. Feldman, M. Robson, Z. Stadler, K. Offit. 999W SLX4 mutation in hereditary breast cancer. S. Shah, Y. Kim, I. Ostrovnaya, F. Lach, R. Murali, K. Schrader, V. Joseph, K. Sarrel, R. Rau-Murthy, N. Hansen, S. Cheguri, J. Littman, L. Zhang, K. Offit, A. Smogorzewska. 1000T Contribution of ARLTS1 to prostate cancer susceptibility. S. Siltanen, H. Rauhala, T. L. Tammela, P. Kujala, T. Visakorpi, T. Wahlfors, J. Schleutker. 1001F Meta-analysis of 25 prostate cancer associated SNPs in high-risk prostate cancer families: New evidence from the International Consortium for Prostate Cancer Genetics. C. Teerlink, S. Thibodeau, D. Schaid, K. Cooney, E. Lange, C. Maier, J. Stanford, E. A. Ostrander, J. Schleutker, G. Cancel-Tassin, O. Cussenot, R. Eeles, D. Easton, W. Isaacs, J. Xu, J. Carpten, J. E. Bailey-Wilson, F. Wiklund, A. Whittemore, W. Catalona, W. Foulkes, N. Camp, L. Cannon-Albright, International W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

153 POSTER SESSIONS 151 Consortium for Prostate Cancer Genetics. 1002W CDH1 mutations in patients with lobular carcinoma of the breast. A. L. Valente, S. Rummel, C. D. Shriver, R. E. Ellsworth. 1003T Fine-mapping of breast cancer genome-wide association studies loci in women of African ancestry. Y. Zheng, T. O. Ogundiran, K. L. Nathanson, E. M. John, A. Hennis, S. Ambs, C. Adebamowo, S. M. Domchek, T. R. Rebbeck, M. S. Simon, B. Nemesure, S. Y. Wu, M. C. Leske, Q. Niu, J. Zhang, E. R. Gamazon, N. J. Cox, O. I. Olopade, D. Huo. 1004F L1 encoded ORF1p facilitates tumorigenesis and suppresses nucleus accumulation of Smad-4 in HepG2 cells. Y. Zhu, F. Feng, X. Gao, J. Yu, M. Hu, F. Zhang, Y. Wang, Q. Zhang, Y. Guo. 1005W Copy number variation analysis in 222 mutation negative polyposis patients reveals potential new candidate genes. S. Aretz, S. Horpaopan, S. Vogt, I. Spier, A. M. Zink, S. Herms, A. Laner, K. Wöllner, S. Pasternack, M. Draaken, D. Stienen, S. Uhlhaas, E. Holinski-Feder, M. M. Nöthen, P. Hoffmann. 1006T Evaluation of the RHINO gene for breast cancer predisposition in Finnish breast cancer families. T. Heikkinen, E. Huovari, S. Vilske, C. Blomqvist, J. Schleutker, A. Kallioniemi, K. Aittomäki, H. Nevanlinna. S. Han, M. Yeager, L. Moore, M. Purdue, M. Johansson, G. Scelo, V. Gaborieau, C. Berg, R. Grubb, V. Stevens, M. Thun, W. Diver, D. Albanes, S. Weinstein, J. Virtamo, L. Burdett, A. Brisuda, J. McKay, J. Fraumeni, N. Chartterjee, P. Rosenberg, N. Rothman, P. Brennan, W. H. Chow, M. Tucker, S. Chanock. 1013F Array CGH analyses in a patient with multifocal recurrent meningioma. Z. Yilmaz Celik, Y. K. Terzi, N. Altinors, F. I. Sahin. 1014W Haplotype-resolved sequencing and structural analysis of the HeLa cancer genome. A. C. Adey, J. O. Kitzman, J. Burton, J. Shendure. 1015T Role of somatic mutations in the etiopathogenesis of Maffucci syndrome. M. Amyere, M. Limaye, N. Mulliken, J. B. Dompmartin, A. Enjorlas, O. Kaitila, I. Docquier, P.-L. Godfraind, L. M. Boon, M. Vikkula. 1016F Association of polymorphisms in NNK metabolizing genes and lung cancer risk. J. L. Engle, A. K. Hull, G. Liu, A. S. Berg, C. J. Gallagher, P. Lazarus, J. E. Muscat. 1017W Myeloproliferative neoplasms and somatic mosaicism in the 23andMe participant community. D. A. Hinds, K. E. Barnholt, J. L. Zehnder, A. K. Kiefer, C. B. Do, N. Eriksson, J. L. Mountain, U. Francke, J. Y. Tung, R. L. Levine, R. A. Mesa, J. R. Gotlib. POSTER SESSIONS 1007F A gene-based association approach prioritizes candidate susceptible genes for chronic myeloid leukemia. J.-H. Park, H.-H. Won, J.-W. Kim, D. H. Kim, S.-T. Lee, S. Kim, S.-H. Kim, C. W. Jung. 1008W Proteomic analysis of gastric cancer from individuals of Northern Brazil. M. F. Leal, J. Chung, D. Q. Calcagno, P. P. Assumpção, S. Demachki, I. D. C. G. Silva, R. Chammas, R. R. Burbano, M. A. C. Smith. 1009T Fine-mapping of IL-16 gene and prostate cancer risk in African Americans. K. Batai, E. Shah, M. Ruden, J. Newsome, A. B. Murphy, C. Ahaghotu, R. A. Kittles. 1010F Fas signaling pathway-based analysis of genome-wide data and risk of gastric cancer. P. L. Hyland, S.-W. Lin, N. Hu, Z.-Z. Tang, L. Wang, C. Wang, H. Su, T. Ding, J.-H. Fan, Y.-L. Qiao, X. Xiong, W. Wheeler, C. Griffen, K. Yu, Z. Wang, L. Burdett, S. J. Chanock, S. M. Dawsey, M. A. Tucker, N. D. Freedman, A. M. Goldstein, C. C. Abnet, P. R. Taylor. 1011W Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression. Z. Kote-Jarai, E. Saunders, D. Leongamornlert, M. Tymrakiewicz, T. Dadaev, S. Jugurnauth-Little, H. Ross-Adams, A. Al-Olama, S. Benlloch, S. Halim, R. Russel, A. Dunning, D. Neal, F. Hamdy, J. Donovan, D. Easton, R. Eeles, UK Genetics Prostate Cancer Study Collaborators, PRACTICAL Consortium. 1012T Fine mapping of 12q24 shows a promising association locus for renal cell carcinoma. J. R. Toro, 1018T Acute myeloid leukemia associated with chromosome 6: Clinical and phenotypical implications in two pediatric patients with chromosome trisomy and translocation. L. Hurtado-Hernandez, J. M. Aparicio, F. L. Cuellar, M. A. L. Cubillo, M. A. H. Garrido, S. M. Chatelain. 1019F Correlating genetic alterations from array comparative genome hybridization and nextgeneration sequencing with histology and clinical outcome in melanocytic neoplasms. Y. Liu, Y. Zhou, E. George. 1020W Molecular profiling of the therapy-resistant clones in the recurrent embryonal carcinomas of the testes based upon FISH and NGS of the isolated chromosomes. R. Malecki, M. Malecki. 1021T Detection of large rearrangements in BRCA1 and BRCA2 by microarray-cgh. D. Mancini-DiNardo, T. Judkins, N. Woolstenhulme, C. Burton, S. Chen, J. Schoenberger, M. Ryder, A. Murray, M. Balzotti, N. Gutin, J. Holladay, J. Craft, C. Colvin, J. Trost, L. A. Burbidge, C. Arnell, E. Rosenthal, B. Roa. 1022F Effect of insecticide exposure in the generation of alterations in MLL, a gene associated with acute lymphoblastic leukemia. M. P. Navarrete Meneses, M. Betancourt, E. Bonilla, M. Altamirano, A. Reyes, P. Pérez-Vera. 1023W Genomic analyses of paired diagnostic/relapse childhood acute lymphoblastic leukemias identify relapse-associated genetic features of pathogenetic and clinical importance. L. Olsson, A. Castor, M. Behrendtz, A. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

154 152 POSTER SESSIONS Biloglav, E. Forestier, K. Paulsson, B. Johansson. 1024T Loss of chromosomes is the primary event in near-haploid and low hypodiploid acute lymphoblastic leukemia. S. Safavi, E. Forestier, I. Golovleva, G. Barbany, K. H. Nord, A. V. Moorman, C. J. Harrison, B. Johansson, K. Paulsson. 1025F Detection of the t(8;14) chromosomal rearrangements in paraffin embedded tissue sections of Burkitt lymphoma patients with quantitative polymerase chain reaction and fluorescence in situ hybridization methods. N. Selvi, M. Hekimgil, B. Tezcanli Kaymaz, S. Aktas, N. Ozhan, C. Gunduz, B. Kosova, Y. Dodurga, N. Topcuoglu. 1026W Molecular changes in Lynch syndrome associated and sporadic ovarian carcinomas. A. Tieva, S. Kaur, L. Renkonen-Sinisalo, H. J. Järvinen, J.-P. Mecklin, R. Bützow, P. Peltomäki. 1027T A comprehensive genetic and epigenetic study of hepatocellular carcinoma with microarrays. G. Zhang, C. Wu, D. Yu, J. Chang, W. Sun, M. Li, L. Liang, Y. Li, D. Lin. 1028F Congenital leukemia with insertion of MLL into 19p13.3 and a deletion of half a megabase of 19p13.3: Case report. H. Al-Kateb, M. Evenson, S. Kulkarni. 1029W Cytogenetic profiles of 370 cases with renal cell carcinoma: UCLA experience. P. H. Bui, P. N. Rao. 1030T Identifying of cryptic genomic alterations by high-resolution microarrays in LLA-B and LLA-T Mexican patients. C. Córdova-Fletes, B. Macias-García, A. Lugo-Trampe, N. Mendez-Ramírez, R. De la Rosa- Alvarado, H. Gutiérrez-Aguirre, D. Gómez-Almaguer, A. Hidalgo, R. Salazar-Riojas, P. Ruíz-Flores, P. Villarreal- Quiroga, O. González-Llano, A. Rojas-Martínez, H. Decanini-Arcaute, R. Ortiz-López. 1031F An unusual case of APL in a 14-year-old girl with t(15;17)(q22;q21) and t(9;22)(q34;q11.2). V. Jobanputra, C. Freeman, S. Hussein, M. J. Macera, B. Levy, V. V. Murty, M. L. Sulis, G. Bhagat. 1032W Integration of cytogenetics and FISH studies for accurate evaluation of chromosome abnormalities. N. Qin, M. Hibbard. 1033T Evaluation of FGFR1 gene amplification status and its association with clinicopathological features in breast cancer. R. M. Rodrigues-Peres, J. K. Heinrich, L. O. Z. Sarian. 1034F Large scale identification of chromosomal abnormalities in familial breast and ovarian cancer. H. W. H. Yin, L. L. Wang, E. Tsui, Y. Elshimali, D. C. Chen. 1035W Homozygous deletions of CDKN2A are present in all dic(9;20)(p13.2;q11.2)-positive BCP ALLs and may be important for leukemic transformation. V. Zachariadis, J. Schoumans, G. Barbany, M. Heyman, E. Forestier, B. Johansson, M. Nordenskjöld, A. Nordgren. 1036T C-MYC and IGH amplification in patients with intermediate high grade B-cell lymphomas. A. Zaslav, M. Bellone, F. Lan, T. Mercado, H. Lee, Y. Hu. 1037F Two deletions in the APC gene (an inherited deletion in exon 1 and a de novo deletion in exon 12) and a de novo MUTYH deletion causing familial adenomatous polyposis. G. A. Molfetta, O. C. Vincenzi, J. Huber, A. A. Marques, W. A. Silva, Jr. 1038W Mutation screening in adenomatous polyposis coli gene in patients clinically diagnosed as familial adenomatous polyposis. O. C. Vincenzi, G. A. Molfetta, J. Huber, C. Ayres, W. A. Silva, Jr. 1039T High-precision CNV analysis of FFPE samples with the ncounter Analysis System. G. Geiss. 1040F Germline copy number variation in high-risk African American families with prostate cancer. E. Ledet, X. Hu, O. Sartor, W. Rayford, M. Li, D. Mandal. 1041W haploh: Powerful haplotype-based profiling of allelic imbalance in impure tumor samples. P. Scheet, R. Xia, S. Vattathil. 1042T Protein tyrosine phosphatase receptor type J is implicated in lymphomagenesis of follicular and diffuse large B-cell lymphomas. C. A. Aya-Bonilla, M. R. Green, E. Camilleri, M. Benton, C. Keane, P. Marlton, R. Lea, M. K. Gandhi, L. R. Griffiths. 1043F Computational techniques to detect BFB in tumor genomes. S. Zakov, M. Kinsella, V. Bafna. 1044W Evaluation of cytogenetic and gene polymorphic variants in workers occupationally exposed to silica-stone quarry industry. R. Chandirasekar, K. Sasikala, B. Lakshman Kumar, R. Raichel Jacob, H. Kavitha. 1045T Differential expression of AURKA and AURKB genes in bone marrow stromal mesenchymal cells of myelodisplastic syndrome: Correlation with G-banding analysis and FISH. F. M. Oliveira, A. R. Lucena-Araujo, M. C. Favarin, E. M. Rego, R. P. Falcão, B. P. Simıes, D. T. Covas, A. M. Fontes. 1046F A new function for the VHL tumor suppressor protein: Prevention of genome instability through promotion of homologous recombinational DNA repair. M. S. Meyn, J. L. Metcalf, P. S. Bradshaw, M. Komosa, S. N. Greer, W. Y. Kim, M. Ohh. 1047W A new role for the ATM protein: Homologous recombination repair of DNA damage. P. Bradshaw, M. Komosa, M. S. Meyn. 1048T A crosstalk between ATM and FA/BRCA proteins is necessary to preserve DNA integrity during G2/M phase. L. C. Torres Maldonado, D. Sosa, M. Castañon, A. Rodriguez, B. Molina, C. Lopez Camarillo, S. Frias. 1049F A dynamic model of the FA/BRCA DNA repair pathway. A. Rodriguez, L. Torres, D. Sosa, E. Cortes, A. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

155 POSTER SESSIONS 153 M. Salazar, R. Ortoz, P. Ostrosky, L. Mendoza, S. Frias. 1050W Fanconi anemia pathway proteins act together and independently to regulate homologous recombination and synthesis of telomeric DNA in ALT-immortalized human cells. H. Root, M. Komosa, A. Larsen, D. Bazett-Jones, M. S. Meyn. 1051T Transcriptome sequencing of tumor subpopulations reveals a spectrum of therapeutic options in squamous cell lung cancer. C. L. Barrett, R. B. Schwab, H. Jung, B. Crain, D. J. Goff, C. H. M. Jamieson, P. A. Thistlethwaite, O. Harismendy, D. A. Carson, K. A. Frazer. 1052F A novel bi-allelic MSH2 mutation associated with constitutional mismatch repair deficiency syndrome, and review of the clinical phenotype. P.-Y. B. Au, R. Perrier, E. G. Puffenberger, S. Hume, R. Anderson, L. Lafay-Cousin, D. Strother, B. McInnes, J. Parboosingh, F. Bernier. 1053W Clinical and histopathologic characteristics between familial and sporadic melanoma in Barcelona, Spain. C. Badenas, P. Aguilera, C. Carrera, J. Malvehy, J. A. Puig-Butille, E. Martinez-Barrios, J. Palou, S. Puig. ovarian cancer. T. Pal, A. Mohammad, P. Sun, J. Lee, J. Fulp, Z. Thompson, A. Doty, D. Coppola, S. Nicosia, T. Sellers, J. McLaughlin, H. Risch, B. Rosen, J. Schildkraut, S. Narod. 1062W BRCA2 mutations might be detected at a high rate in a subset of cutaneous melanoma patients with pancreatic cancer in the familial history. N. Soufir, E. Rouleau, C. Derouet, A. Riffault, H. H. Hu, S. Caputo, P. Hammel, V. Descamps, N. Basset-Seguin, P. Saiag, A. Bensussan, M. Bagot, R. Lidereau, B. Grandchamp. 1063T SUFU germline mutation in a patient with Gorlin syndrome identified by next-generation sequencing. J. B. Geigl, E. Heitzer, I. Wolf, L. Cerroni, M. R. Speicher. 1064F Li-Fraumeni syndrome: A clinical, genetic, and epidemiologic cohort study. P. L. Mai, J. A. Peters, L. Hoskins, F. Walcott, R. Bremer, S. A. Savage. 1065W Early detection of cystic pleuropulmonary blastoma and cystic nephroma in an asymptomatic child with DICER1 mutation Screening considerations. F. Plourde, V. Larouche, N. Ferguson, M. St-Amant, I. Harvey, N. Taherian, N. Sabbaghian, J. R. Priest, W. D. Foulkes. POSTER SESSIONS 1054T A survey of stromal responses and their clinical associations defined by the fibromatosis signature in different types of carcinomas. J. L. Chen, I. Espinosa, A. Y. Lin, O. Y. Liao, M. van de Rijn, R. B. West. 1055F Anticipation in hereditary paraganglioma and pheochromocytoma syndromes. H. Druker, D. Malkin, S. Meyn. 1056W Evaluation of mtdna D-loop polymorphisms in Iranian breast cancer patients. M. Ghaffarpour, S. Eslamizadeh, M. Arabzadeh, B. Motahari, N. Moazami, M. Houshmand. 1057T Does high HERV-K expression participate in acute leukemia pathogenesis in children? D. Januszkiewicz-Lewandowska, K. Nowicka, J. Rembowska, J. Nowak. 1058F SMAD4 loss-of-function mutations cause wide range of clinical disorders with unpredictable age-related penetrance. N. M. Lindor, K. E. Wain, M. S. Ellingson, J. McDonald, A. D. Gammon, M. E. Roberts, D. L. Riegert-Johnson. 1059W Automatic endometrial tumor screening for Lynch syndrome. M. Myers, P. Conrad, J. Rabban, J. Terdiman, K. Loranger, A. Blanco, L. Chen. 1060T Detection of EGFR mutations by TaqMan Mutation Detection Assays powered by Competitive Allele-Specific TaqMan PCR Technology (castpcr ). N. Normanno, C. Roma, R. Pasquale, A. M. Rachiglio, C. Esposito, F. Fenizia, M. L. La Porta, A. Iannaccone, F. Bergantino, S. Costantini, A. Rico, R. Petraroli. 1061F Germline mutations and microsatellite instability status in a population-based study of women with 1066T Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation. S. Stuckless, P. Parfrey, L. Dawson, B. Barrett, J. Green. 1067F Evaluation of mismatch repair gene sequence variants in the Colon Cancer Family Registry using multifactorial likelihood analysis. B. A. Thompson, D. E. Goldgar, M. Clendenning, R. Walters, M. T. Parsons, S. Gallinger, R. W. Haile, J. L. Hopper, M. A. Jenkins, L. LeMarchand, N. M. Lindor, P. A. Newcomb, S. N. Thibodeau, J. P. Young, D. D. Buchanan, S. V. Tavtigian, A. B. Spurdle, Colon Cancer Family Registry. 1068W Development of a custom targeted AmpliSeq multiplex sequencing assay for the detection of tumorderived somatic mutations and application as part of a clinical trial. C.-J. Lih, D. J. Sims, M. G. Mehaffey, M. Dindinger, E. Levandowsky, C. C. Lee, T. T. Harkin, P. Brzoska, B. Conley, S. Kummar, P. M. Williams. 1069T A 30-year perspective of International Fanconi Anemia Registry. A. D. Auerbach, IFAR Collaboration Team. 1070F Histology and prognostic markers are powerful tools for predicting BRCA mutation status. C. D. Delozier, A. Rahman, T. Liu, C. J. Curry. 1071W Variants of uncertain significance in BRCA testing: Surgical decisions, risk perception, cancer distress, and evaluation of the genetic cancer risk assessment process. J. O. Culver, C. D. Brinkerhoff, J. Clague, K. Yang, K. E. Singh, S. R. Sand, J. N. Weitzel. 1072T The contribution of predisposition polymorphisms for body size to the inherited risk of colorectal cancer. L. Carvajal-Carmona, G. Casey, O. Sieber, G. Montgomery, J. Young, P. Baird, D. Kerr, R. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

156 154 POSTER SESSIONS Houlston, M. Dunlop, I. Tomlinson, Colon Cancer Family Registry, COGENT Consortium. 1073F The combined effect of the functional variants in cell death pathway genes on cervical cancer. K. Chattopadhyay, C. Dandara, A. Hazra, A. L. Williamson. 1074W Genetic ancestry is associated to changes in DNA repair capacity in non-melanoma skin cancer patients from Puerto Rico. H. J. Diaz-Zabala, L. Morales, J. Matta, J. Dutil. 1075T Genetic ancestry and breast cancer survival in U.S. Latinas. L. Fejerman, D. Hu, S. Huntsman, C. Eng, E. Gonzalez Burchard, E. M. John, M. C. Stern, E. Perez- Stable, E. Ziv. 1076F Genetic polymorphisms in candidate inflammation-related genes and risk of esophageal squamous cell carcinoma. A. Golozar, T. Beaty, P. Gravitt, I. Ruczinski, Y. L. Qiao, J. H. Fan, T. Ding, Z. Z. Tang, A. Etemadi, N. Hu, S. M. Dawsey, N. D. Freedman, C. C. Abnet, A. Goldstein, P. R. Taylor. 1077W Frequency of VNTR polymorphism in IL-1Ra gene in colorectal cancer. I. A. Gutíerrez, E. Cortes, A. M. Puebla, M. P. Gallegos. 1078T Individual ancestry influences the gene expression profile in breast cancer patients of admixed populations. D. Hu, E. Ziv. 1079F Risks of colorectal and other cancers following endometrial cancer in Lynch syndrome. M. A. Jenkins, N. M. Lindor, R. W. Haile, P. A. Newcomb, L. Le Marchand, S. Gallinger, J. L. Hopper, A. K. Win. 1080W Prevalence and clinical features of HOXB13 mutation carriers in prostate cancer patients from Germany. C. Maier, J. Xu, S. L. Zheng, M. Luedeke, A. E. Rinckleb, W. Vogel, S. N. Thibodeau, K. A. Cooney, W. B. Isaacs on behalf of ICPCG. 1081T Histologic types and risk factors in familial lung cancer cases from Southern Louisiana. D. Mandal, M. Haskins, A. Bencaz, J. Hutchinson, J. Chambliss, H. Rothschild, J. E. Bailey-Wilson. 1082F Using an 18 locus genotype to predict risk of breast cancer, and the relationship between age, estrogen receptor status and genetic risk. C. Merrick, C. Purdie, L. Jordan, C. Palmer, R. Tavendale, A. Ashfield, P. Quinlan, P. Armory, A. Thompson, J. Berg. 1083W Association between prostate cancer occurrence and Y-chromosomal STRs. M. Miri Nargesi, A. Nazemi, P. Amini, P. Ismail, R. Vasudevan, P. Pasalar, A. H. Abdul Razack. 1084T The clinical phenotype of endometrial cancer in women of Newfoundland and Labrador with a MSH2 Lynch syndrome mutation. A. H. G. Nichols, L. M. Dawson, J. Green, E. Dicks, P. Parfrey. 1085F A unique African prostate cancer cohort to investigate genetic and environmental risk factors of aggressive disease within Africa. E. A. Tindall, M. S. R. Bornman, S. van Zyl, D. C. Petersen, A. M. Segone, L. R. Monare, P. A. Venter, V. M. Hayes. 1086W Insulin-like growth factor biomarkers and genetic polymorphisms are associated with adenomatous polyp risk. C. B. Vaughn, H. Ochs-Balcom, J. Nie, Z. Chen, C. L. Thompson, L. Li. 1087T An unusual BRCA mutation distribution in a high risk cancer genetics clinic. A. C. Nelson-Moseke, J. M. Jeter, H. Cui, D. Roe, S. K. Chambers, C. M. Laukaitis. 1088F Functional characterization of the pancreatic cancer TERT-CLPTM1L risk locus on Chr5p J. Jia, A. Thompson, A. Bosley, H. Parikh, Z. Wang, I. Collins, G. Petersen, C. Westlake, T. Andresson, L. Amundadottir. 1089W A comprehensive approach to evaluating the impact of sequence variants of uncertain significance in 24 breast cancer genes on transcript splicing. S. Casadei, T. Walsh, C. H. Spurrell, A. M. Thornton, J. B. Mandell, S. M. Stray, M. K. Lee, M. C. King. 1090T Functional analysis of germline TP53 mutations in lymphocytes from Li-Fraumeni patients reveals a drastic biological impact of missense mutations. J.-M. Flaman, Y. Zerdoumi, C. Durambure, J. Laury-Andas, G. Bougeard-Denoyelle, T. Frebourg, French LFS Working Group. 1091F Investigation of the bladder cancer association within TP63 gene region. Y.-P. Fu, I. Kohaar, J. Earl, W. Tang, J. D. Figueroa, N. Malats, M. Garcia-Closas, N. Chatterjee, M. Kogevinas, P. Porter-Gill, D. Baris, D. Albanes, M. P. Purdue, A. Carrato, A. Tardón, C. Serra, R. García-Closas, J. Lloreta, A. Johnson, M. Schwenn, M. R. Karagas, A. Schned, W. R. Diver, S. M. Gapstur, M. Thun, J. Virtamo, D. T. Silverman, N. Rothman, F. X. Real, L. Prokunina-Olsson. 1092W Genetic variant as a selection marker for anti- PSCA immunotherapy of bladder cancer. I. Kohaar, P. Porter-Gill, P. Lenz, Y. P. Fu, A. Mumy, W. Tang, A. B. Apolo, N. Rothman, D. Baris, A. R. Schned, K. Ylaya, M. Schwenn, A. Johnson, M. Jones, M. Kida, D. T. Silverman, S. M. Hewitt, L. E. Moore, L. Prokunina-Olsson. 1093T Tumor microenvironment and genetic association with colorectal cancer risk. V. Peltekova, M. Lemire, Q. Trinh, A. Qazi, R. Bielecki, L. Hodgson-Jensen, D. D Souza, S. Zandi, T. Chong, R. De Borja, L. Timms, J. Rangrej, M. Volar, M. Chan-Seng-Yue, T. Beck, J. Kwan, K. Kozak, C. Ash, L. D. Stein, J. E. Dick, J. D. McPherson, B. W. Zanke, A. Pollett, S. Gallinger, T. H. Hudson. 1094F Evaluation of the functional effects on cell signaling caused by allelic forms of prostate stem cell antigen. P. Porter-Gill, A. Mumy, W. Tang, I. Kohaar, L. Prokunina-Olsson. 1095W Discovery and functional characterization of somatic mutations in the novel tumor suppressor DEAR1. J. Reuther, N. Chen, S. Balasenthil, A. Killary. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

157 POSTER SESSIONS T rs and rs SNPs of ABCB1 gene may be the reason of mrna stabilization which may lead to gene overexpression. M. S. Shahbazi, M. M. Mansoori, M. G. Golalipour, S. A. Alizadeh, A. J. Jahangirerad, A. T. Tahmasebifar, S. R. K. Khanduzi. 1097F Identification and functional characterization of a novel splicing form of the TPCN2 gene on 11q13.3 within a region associated with prostate cancer risk. N. Sikdar, C. Chung, J. Fang, M. Tarway, W. Tang, S. Mukherjee Dey, S. Ambs, L. Prokunina-Olsson, S. Chanock. 1098W An integrated analysis of genomic variation and transcriptome sequencing to identify novel susceptibility genes for breast cancer. E. Wagner, S. Clare, M. Radovich, Y. Liu, B. Schneider, A. M. Storniolo, C. He. 1099T Effects of breast cancer associated PALB2 c.1592delt founder mutation at the cellular level. R. Winqvist, J. Nikkilä, K. Pylkäs, H. Peltoketo, B. Xia, H. Pospiech. 1100F Global correlation of expression with prostate cancer associated variants identifies IRX4 as a prostate cancer expression trait locus. X. Xu, W. M. Hussain, N. Kitabayashi, M. A. Rubin, F. Demichelis, R. J. Klein. X. Qiu, T. Popper, K. Boyd, Q. Kuang, Y.B. Berhane, H. Henrique, N. Perera, P. Prakruthi, D. Patel, S. Momin, M. Nakhla, E. Marjan, Z. Chen, D. Cheng, R. Feld, N.B. Leighl, F.A. Shepherd, M.-S. Tsao, W. Xu, G. Liu, S. Cuffe. 1109F The PROFILE Study: Genetic prostate cancer risk stratification for targeted screening. E. K. Bancroft, E. C. Castro, N. Taylor, E. Page, E. Saunders, T. Dadaev, A. Lee, A. Antoniou, Z. Kote-Jarai, R. Eeles. 1110W Lgr5 expression and its relatedness with other tumor stem cell markers in human gastric adenocarcinoma. W. Fan, Y. W. Guo, Y. Y. Xie, Y.S. Li, W. Chen. 1111T The TP53 16 bp duplication polymorphism is associated with breast cancer. M. Gallegos, Jr., A. Gutiérrez, A. Ramos, E. Salas, J. M. Castro, A. M. Puebla, L. E. Figuera, G. M. Zúñiga. 1112F Statistics of cellular evolution in leukemia: Allelic variations in patient trajectories based on immune repertoire sequencing. H. Gao, C. Wang, A. C. Logan, C. D. Bustamante, J. Seok, D. B. Miklos, R. W. Davis, M. W. Feldman, W. Xiao. 1113W Genetic polymorphisms and colorectal cancer risk: A systematic review of meta-analyses. B. Haerian, M. Haerian. POSTER SESSIONS 1101W Interplay of tumor suppressor genes and oncogenes in ovarian cancer. M. Zhao, S. Sun, Z. Zhao. 1102T Establishment of breast, leiomyosarcoma and thyroid cancer stem cells derived from carriers of p.r337h TP53 germline mutation within one Li- Fraumeni syndrome family. L. I. Mambelli, I. Kerkis, F. Fortes, P. Hainaut, M. I. W. Achatz. 1103F Functional validation using eqtl needs cellspecific approaches. S. Kim, H.-H. Won, J.-W. Kim, D. H. Kim, S.-T. Lee, S. Kim, S.-H. Kim, C. W. Jung. 1104W Functional characterization of HLA allelotypes associated with follicular lymphoma risk. F. C. M. Sillé, L. Conde, C. F. Skibola. 1105T microrna expression for classification of histiocytic sarcomas in dogs. J. Aguirre Hernandez, J. M. Dobson, T. M. Hoather, D. R. Sargan, F. Constantino-Casas. 1106F Molecular urine assay of PCA3, MMP2, MMP9 and KLK3 in men with prostate cancer and benign prostatic hyperplasia. H. Akin, A. Simsir, F. Hazan, T. R. Ozdemir, I. Cureklibatir, G. Itirli, C. Gunduz, C. Ozkinay, F. Ozkinay. 1107W The effect of copy number variation in the phase II detoxification genes, UGT2B17 and UGT2B28, on colorectal cancer risk. A. Y. Angstadt, A. S. Berg, J. Zhu, P. Miller, T. J. Hartman, S. M. Lesko, J. E. Muscat, P. Lazarus, C. J. Gallagher. 1108T Genetic sequence variant in microrna genes and survival in non-small cell lung cancer. A.K. Azad, 1114T NRF2 and sulfiredoxin genetic polymorphisms and protein expression predict outcome in breast cancer. J. M. Hartikainen, M. Tengström, V.-M. Kosma, V. Kinnula, A. Mannermaa, Y. Soini. 1115F Complex tumor genomes inferred from plasma- DNA and circulating tumor cells of patients with cancer. E. Heitzer, M. Auer, E. M. Hoffmann, C. Beneken, M. Pichler, P. Ulz, S. Lax, J. Waldispuehl-Geigl, O. Mauermann, G. Pristauz, C. Lackner, G. Höfler, F. Eisner, E. Petru, H. Sill, H. Samonigg, K. Pantel, S. Riethdorf, T. Bauernhofer, J. B. Geigl, M. R. Speicher. 1116W Novel integrative genomics approach for associating GWAS information with triple negative breast cancer. C. Hicks, K. Backus, A. Pannuti, L. Miele. 1117T Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome. M. Jamshidi, M. K. Schmidt, T. Dörk, M. Garcia-Closas, T. Heikkinen, S. Cornelissen, S. van den Broek, P. Schürmann, A. Meyer, T. W. Park-Simon, J. Figueroa, M. Sherman, J. Lissowska, G. T. Keong, A. Irwanto, M. Laakso, S. Hautaniemi, K. Aittomäki, C. Blomqvist, J. Liu, H. Nevanlinna. 1118F Detection of FLT3 internal tandem duplication and D835 mutations in Iranian patients with acute myeloid leukemia. L. Kokabee, A. Ahmadzadeh, M. Kokabee, M. Karimipoor. 1119W Association of gastric cancer with Amerindian ancestry, socioeconomic and nutritional factors and a gene candidate study in a Latin American admixed population. L. Lacorte, R. Zamudio, G. Soares-Souza, W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

158 156 POSTER SESSIONS P. Herrera, L. Cabrera, C. Hooper, J. Cok, J. Combe, G. Vargas, W. Prado, S. Schneider, M. Rodrigues, S. Chanock, D. Berg, R. Gilman, E. Tarazona-Santos, F. Kehdy. 1120T Detection of P16 expression and human papillomavirus in oropharyngeal squamous cell carcinoma. S. Lai, V. Sandulache, J. Zevallos. 1121F BORIS expression in squamous intraepithelial lesions and cervical cancer. B. Lazalde, N. Velazquez- Hernandez, M. Barragán-Hernandez, M. A. Reyes- Romero. 1122W An informative clinical applicable serum mirnas and 302/367 test for (germ cell) cancer patients. L. H. J. Looijenga, A. J. M. Gillis, M. A. Rijlaarsdam, R. Eini, L. C. J. Dorssers, Y. van der Zwan, C. M. de Boer, S. J. White. 1123T Gene variants in chemokine and chemokine receptor with risk of prostate cancer in North Indian cohort. R. D. Mittal, R. K. Mandal. 1124F The regulatory BCL2 promoter polymorphism (-938C,A) is associated in Iranian women breast cancer patients. B. Motahari, M. Ghaffarpour, G. H. Javadi, M. Houshmand. 1125W Type II transmembrane serine protease gene variants associate with breast cancer. K. M. Nieminen, J. M. Hartikainen, V. Kataja, V.-M. Kosma, A. Mannermaa. 1126T Prevalence and prognostic impact of Ikaros deletions in childhood acute lymphoblastic leukemia treated according to NOPHO protocols. I. Ofverholm, A. N. Tran, G. Barbany, A. Nordgren, M. Heyman, M. Nordenskjöld. 1127F Genotype proline/proline of TP53 codon 72 polymorphism is enriched in breast cancer. A. M. Puebla, A. Gutiérrez, A. Ramos, E. Salas, J. M. Castro, R. Ramírez, M. P. Gallegos. 1128W 3R/3R genotype of TYMS gene is associated with non response of chemotherapy in breast cancer patients. A. Ramos, E. Salas, J. M. Castro, L. E. Figuera, A. M. Puebla, M. P. Gallegos. 1129T Characterization of breast cancer intrinsic subtypes in Mexican women using integrative multiplatform analysis. C. Rangel-Escareño, I. Imaz- Rosshandler, S. Muñoz-Montero, J. E. Castillo-Fernandez, A. Hidalgo-Miranda. 1130F International collaborative analysis of the InSiGHT database quantifies unique reports and redefines the V.U.S. challenge for DNA mismatch repair genes (MMR). R. P. Raval, L. Baez-Cabrera, J. P. Plazzer, S. Okochi, F. Macrae, M. Genuardi, T. K. Weber. 1131W Frequency of non-dna-binding Ikaros isoforms in childhood acute lymphoblastic leukemia and relapse or death risk. A. Reyes-León, R. Juárez-Velázquez, A. Medrano-Hernández, T. Cuenca-Roldán, C. Salas- Labadía, P. Navarrete-Meneses, R. Paredes-Aguilera, R. Rivera-Luna, R. Cárdenas-Cardos, G. López-Hernández, R. Bernaldez, P. Pérez-Vera. 1132T Gene expression profile of human telomere and telomerase complex in gastric cancer. L. C. Santos, F. Wisnieski, D. Q. Calcagno, M. F. Leal, T. B. Pontes, C. O. Gigek, E. S. Chen, S. Demachki, P. P. Assumpção, R. R. Burbano, M. A. C. Smith. 1133F Chemotherapy response in ovarian cancer is modulated by the DNA encoded microrna family mir-17-92a. I. Shapira, A. Lee, M. Oswald, J. Lovecchio, A. Menzin, J. Whyte, L. Dos Santos, K. Sultan, V. John, K. Cheng, S. Liang, T. Bradley, D. Budman. 1134W Single-nucleotide polymorphisms in genes encoding Toll-like receptor -2, -3, -4, and -9 in casecontrol study with bladder cancer susceptibility in North Indian population. V. Singh, N. Srivastava, R. Kapoor, R. D. Mittal. 1135T Clinical impact of MMP-3 and TIMP-3 gene polymorphisms in prostate cancer. P. Srivastava, R. Kapoor, R. D. Mittal. 1136F Role of SOCS3 promoter methylation in the pathogenesis of myeloproliferative neoplasms and secondary/reactive erythrocytosis/thrombocythemia. D. Torun, O. Nevruz, M. Akyol, S. Kozan, M. Bahce, S. Guran, C. Beyan. 1137W Association of common polymorphisms in TNF-a pathway genes and apoptotic genes with risk and prognosis of esophageal cancer. M. Umar, R. Upadhyay, S. Kumar, U. C. Ghoshal, B. Mittal. 1138T Colon cancer in a 9-year-old female due to combined inherited EPCAM deletion and hmsh2 missense mutation leading to tissue-specific bi-allelic loss of expression of hmsh2. P. J. Ainsworth, H. H. Li Chang, H. Levin, D. K. Driman, V. M. Siu, A. E. L. Cairney, N. L. Scanlan, K. Buckley. 1139F NF1 second hit leads to the upregulation of HLA class II genes and recruitment of Tregs in neurofibromas. E. M. Jouhilahti, S. Peltonen, E. P. Jokinen, T. Callens, H. Aho, E. Legius, O. Lassila, L. Messiaen, J. Peltonen. 1140W Genetic screening of colorectal cancer patients for the Lynch syndrome detection in Estonian population. M. Kask, E. Oitmaa, K. Toome, K. Raime, K. Vaidla, P. Laidre, J. Jaal, J. Soplepmann, V. Afanasjev, T. Erm, H. Roomere. 1141T CASP8AP2 and H2AFZ expression as a prognosis factor in childhood acute lymphoblastic leukemia. R. Juárez-Velázquez, A. Reyes-León, C. Salas, R. Paredes, R. Cardenas, G. López-Hernández, A. Lopez, A. Carnevale, R. Ortiz, R. Bernaldez, P. Perez-Vera. 1142F Circulating mirnas as non-invasive blood based diagnostic biomarkers. R. Duttgupta, R. Jiang, J. Gollub, T. Stamato, B. C. Getts, K. W. Jones. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

159 POSTER SESSIONS W Comparison of PCR method and RUT test for detection of Helicobacter pylori infection in gastric tissue. N. Bagheri, L. Salimzadeh, F. Azadegan, G. Rahimian, A. Taghikhani, M. Hashemzadeh, H. Shirzad. 1144T Lowered PTEN protein dosage predicts for underlying germline PTEN mutations amongst patients presenting with thyroid cancer and Cowden-like phenotypes. J. Ngeow, X. He, J. Mester, J. Lei, T. Romigh, M. Milas, M. Orloff, C. Eng. 1145F Cellular uterine leiomyomata with chromosome 1p deletions represent a distinct entity. J. C. Hodge, A. T. Florin, K. E. Pearce, A. C. Clayton, E. A. Stewart. 1154F A region of autozygosity at 8q21.3 and lung cancer risk. M. T. Landi, K. Jacobs, M. Yeager, D. Albanes, M. Thun, N. E. Caporaso, S. Chanock, J. Shi. 1155W IL28B allelic protein isoforms differentially activate interferon-stimulated genes. A. Mumy, B. Muchmore, W. Tang, H. Park, F. Sheikh, B. Rehermann, R. Donnelly, L. Prokunina-Olsson. 1156T Three novel common susceptibility loci for ovarian cancer identified by GWAS meta-analysis and replication. S. J. Ramus, P. D. P. Pharoah, Y. Y. Tsai, C. M. Phelan, A. N. A. Monteiro, S. A. Gayther, J. M. Schildkraut, T. A. Sellers on behalf of Ovarian Cancer Association Consortium. POSTER SESSIONS 1146W Cancer biomarker research using castpcr technology. T. Hartshorne, Y. Bao, B. Ching, M. Mouanoutoua, Y. Wang, D. Keys, S. Desai, J. Stevens. 1147T Naturally missing teeth and ovarian cancer: A potential genetic link. L. Morford, A. Vu, K. Kirk, M. Gilbey, G. Falcao-Alencar, M. Sakamoto, D. Fardo, J. Hartsfield Jr. 1148F A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. A. Amin Al Olama, Z. Kote-Jarai, F. R. Schumacher, F. Wiklund, S. I. Berndt, S. Benlloch, G. G. Giles, G. Severi, D. E. Neal, F. C. Hamdy, J. L. Donovan, D. J. Hunter, B. E. Henderson, S. Chanock, H. Gronberg, C. A. Haiman, P. Kraft, D. F. Easton, R. A. Eeles, PRACTICAL Consortium. 1149W Identifying genetic modifiers in two p16 melanoma pedigrees. M. H. Bailey, C. Teerlink, J. M. Farnham, L. Cannon-Albright. 1150T Genome-wide association studies identify four novel ER-negative specific breast cancer risk loci. F. J. Couch, M. Garcia-Closas, S. Lindstrom, K. Michailidou, M. K. Schmidt, M. Brook, N. Orr, S. Slager, D. J. Hunter, J. Simard, J. Benitez, A. Dunning, M. E. Sherman, G. Chenevix-Trench, S. J. Chanock, P. Hall, P. Pharoah, C. Vachon, D. F. Easton, C. A. Haiman, P. Kraft for BPC3, TNBCC, and BCAC. 1151F camp and cgmp signaling may play an important role in the development of prostate cancer. R. de Alexandre, A. Horvath, A. Manning, D. Carraro, F. Soares, M. Nesterova, S. Constantine, F. Faucz. 1152W Genome-wide association for multiple myeloma reveals overlap between variants associated with susceptibility and survival. E. Dean, D. Hu, P. Bracci, V. Krepkiy, T. Martin, J. Wolf, E. Ziv. 1153T Genetic risk factors for malignant pleural mesothelioma: A genome-wide association study. I. Dianzani, S. Guarrera, M. Betti, G. Fiorito, D. Ferrante, F. Voglino, G. Cadby, A. Russo, C. Di Gaetano, F. Rosa, E. Casalone, M. Padoan, M. Giordano, A. Aspesi, C. Casadio, F. Ardissone, E. Ruffini, P. G. Betta, R. Libener, R. Guaschino, E. Piccolini, L. Palmer, M. Neri, D. Mirabelli, D. Ugolini, S. Bonassi, C. Magnani, G. Matullo. 1157F Insights into pancreatic cancer etiology from pathway analysis of genome-wide association study data. P. Wei, H. Tang, D. Li. 1158W Pathway-based analysis of genomewide SNP data reveals new candidate genes for susceptibility to melanoma. M. Brossard, A. Vaysse, E. Corda, P. Jeannin, H. Mohamdi, V. Chaudru, N. Lavielle, B. Bressac-de Paillerets, M. F. Avril, M. Lathrop, F. Demenais. 1159T Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. V. Joseph, T. Kirchhoff, J. Brown, K. A. Schrader, A. Dutra-Clarke, C. Manschreck, N. Hansen, R. Rau-Murthy, K. Sarrel, J. Przybylo, S. Shah, S. Cheguri, Z. Stadler, L. Zhang, O. Paltiel, D. Yehuda, A. Viale, C. Portlock, D. Strauss, S. L. Lipkin, M. Lacher, M. Robson, R. J. Klein, A. Zelenetz, K. Offit. 1160F Second generation DCEG Reference Set improves performance of genotype imputation. Z. Wang, K. B. Jacobs, M. Yeager, A. Hutchinson, J. Sampson, M. Tucker, S. J. Chanock. 1161W Are there genetic variants that confer shared genetic susceptibility to pancreatic cancer and melanoma? L. Wu, K. Rabe, G. Petersen. 1162T Oncogenic rewiring by the t(11;19)(q21;p13) coactivator fusion, CRTC1/MAML2, involves direct activation of the pluripotency factor MYC. A. L. Amelio, F. X. Schaub, M. Fallahi-Sichani, M. B. Lawani, M. R. Southern, B. M. Young, L. Wu, F. J. Kaye, J. L. Cleveland, M. D. Conkright. 1163F Meta-analysis identifies microrna expression signature in non-small-cell lung cancer. T. Annilo, U. Vısa, T. Vooder, R. Kolde, J. Vilo, A. Metspalu. 1164W The effect of non-viral magnet assisted transfection on chronic myeloid leukemia cell line with downregulated mir-150. T. Balci, C. Birayavci, S. Yilmaz, Z. O. Dogan Sigva, G. Saydam, C. Gunduz. 1165T The novel resequencing diagnostic microarray: RDMGGA1.0, can detect at a diagnose level mutations in patients with breast, ovarian, colon, skin and multiple cancers. D. Bercovich, Y. Plotsky, W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

160 158 POSTER SESSIONS T. Morad, S. Allon-Shalev, AM. Lichanska, LA. Borsuk, C. Tibbetts. 1166F A new approach for an anti-diabetic drug metformin in prostate cancer. C. Biray Avci, E. Harman, S. Yilmaz, Y. Dodurga, C. Gunduz. 1167W mrna-seq of single prostate cancer circulating tumor cells reveals recapitulation of gene expression and pathways found in prostate cancer. G. Cann, Z. Gulzar, S. Cooper, M. Tat, R. Li, S. Stuart, S. Luo, M. Ronaghi, J. Brooks, A. Talasar. 1168T Detection of sequences of MMTV-like retroviruses in breast cancer from Mexican women. A. Cedro-Tanda, I. A. Cordova-Solis, D. J. Arenas- Aranda, J. Torres-López, F. A. Salamanca-Gomez, C. Moctezuma-Meza, G. Castelazo-Rodriguez, N. Garcia- Hernandez. 1169F Expression of stem cell gene, Piwil2 and testis specific genes TSGA10, TEX101 and ODF3 in breast cancer. M. Dianatpour, P. Mehdipour, M. Miryounesi, S. Savad, F. Yazarlou, M. Mobasheri, M. H. Modarressi. 1170W PMS2 screening: Could massive parallel sequencing facilitate gene analysis? J. Duclos, F. Pires, G. Legrand, C. Colas, J. Lefevre, M. Eyries, C. Wang, Y. Parc, F. Soubrier, F. Coulet. 1171T FANCD2 immunohistochemical expression is a prognostic marker in breast cancer. R. Fagerholm, K. M. Sprott, T. Heikkinen, J. Bartkova, P. Heikkilä, K. Aittomäki, J. Bartek, D. T. Weaver, C. Blomqvist, H. Nevanlinna. 1172F Effects of cassia extracts on cytotoxicity, apoptosis and gene expression in HL-60 cells. C. Gündüz, S. Yilmaz Süslüer, B. Agrap, C. Biray Avci, F. Lermioglu. 1173W Universal Lynch syndrome screening result notification: Efficacy affected by method. H. Hampel, I. Lattimer, W. L. Frankel. 1174T Allele-specific expression imbalances of MCC and reduced susceptibility to colorectal cancer in schizophrenia. L. He, G. He. 1175F RAD51 polymorphisms and breast cancer risk. M. Hosseini, M. Houshmand, A. Ebrahimi. 1176W Design and development of a next-generation sequencing assay for multiplex detection of somatic mutations in FFPE tissues. E. B. Jaeger, R. Haigis, M. Bauer, J. Yeakley, J. Betley, N. Udar. 1177T Genotypic distribution of MMP1 (1607, 1G/2G) promoter in childhood malignant gliomas. P. Kawal, R. Kumar, A. Chandra, T. N. Dhole, B. K. Ojha. 1178F Antileukemic effect of paclitaxel in combination with metformin in HL-60 cell line. C. Kayabasi, C. Birayavci, S. Yilmaz Susluer, Z. O. Dogan Sigva, T. Balci, G. Saydam, C. Gunduz. 1179W The X-linked tumor suppressor TSPX disrupts the positive feedback loop of the viral oncoprotein HBx in HBV-associated hepatocarcinogenesis. T. Kido, Y.-F. C. Lau. 1180T Comparison of minor groove binding ligands and known carcinogen blastomogenic, recombinogenic and mutagenic activity revealed by SMART in wts/1 hetesozygous flies. K. Kirsanov, E. Lesovaya, G. Belitsky, M. Yakubovskaya. 1181F GR-mediated regulation of gene expression by standard glucocorticoids and selective glucocorticoid receptor agonists in lymphoma cells. E. Lesovaya, A. Yemelyanov, K. Kirsanov, V. Gasanova, M. Yakubovskaya, I. Budunova. 1182W Sub-cellular localization of Y-box protein 1 regulates proliferation, migration and tumorigenicity in astrocytomas. X. Liu, D. Faury, C. Sollier, N. Gerges, B. Meehan, Z. Dong, P. Siegel, A. Korshunov, S. Pfister, J. Rak, N. Jabado. 1183T Integrative analysis of TCGA clinical and genomic data reveals conflicting roles of REST gene expression in recurrent glioblastoma. J. Madhusoodanan, M. Shekar, J. Su, I. Kupershmidt. 1184F Analysis of MRE11/RAD50/NBN genes in childhood acute lymphoblastic leukemia. J. Nowak, M. Mosor, I. Ziolkowska-Suchanek, K. Nowicka, D. Januszkiewicz-Lewandowska. 1185W Validation of a prostate cancer metastasis signature in a FFPE cohort of primary tumors. A. Pearlman, C. Campbell, J. Loke, S. Freedland, Y. Shao, H. Ostrer. 1186T Molecular characterization of small cell carcinoma of the ovary. P. Ramos, M. L. Russell, L. Nordstrom, S. Smith, M. T. Barrett, T. Holley, E. Lenkiewitz, J. G. Pressey, J. Farley, S. P. Anthony, G. Hostetter, A. E. McCullough, K. A. Furge, B. B. Haab, J. M. Trent, H. E. Cunliffe. 1187F Effects of Helicobacter pylori infection on MGMT and MLH1 promoter methylation status and microsatellite instability in pediatric and adult patients. M. L. Ribeiro, M. C. Alvarez, J. C. Santos, N. M. Maniezzo, M. S. Ladeira, I. C. A. Scaletsky, J. Pedrazzoli, Jr. 1188W Role of novel and GWAS identified PLCE1 genetic variants to gallbladder cancer susceptibility in north Indian population. K. L. Sharma, S. Misra, A. Kumar, B. Mittal. 1189T Serum metabolomics and prostate cancer survival. R. Szulkin, R. Karlsson, A. Heuberger, M. Hong, C. Broeckling, J. Prenni, J. Prince, F. Wiklund. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

161 POSTER SESSIONS F Analysis of TCGA patient and curated public genomic data identifies differentially regulated processes in breast cancer metastases. R. Wisotzkey, A. Umesh, J. Park, J. Shima, J. Delaney, E. Kelly, E. Chiu, M. Shekar, I. Kupershmidt. 1191W Extreme breast/ovarian cancer phenotypes in non BRCA1 and BRCA2 families of Greek ancestry. F. Fostira, A. V. Stavropoulou, I. Konstantopoulou, D. Yannoukakos. 1192T Modeling carcinogenesis in BRCA1 and BRCA2 heterozygous mammary epithelial cells. M. E. Keith, M. Tenniswood. 1193F Integrated transcriptional and functional screening identifies novel regulators of lymphoid lineage determination. E. Laurenti, S. Doulatov, I. Plumb, M. Doedens, C. April, J. B. Fan, J. Dick. Sakamoto, R. Pogue, R. W. Pereira. 1203W Comprehensive germline susceptibility variant discovery in ovarian cancer using exome sequencing data. L. Ding, K. Johnson, K. Kanchi, M. Mclellan, C. Lu, Q. Zhang, D. Koboldt, C. Kandoth, T. Graubert, T. Ley, E. Mardis, R. Wilson. 1204T Whole-exome sequencing of four patients with critera of familial hyperplastic polyposis. C. Garrec, S. Küry, P. Lindenbaum, V. Vidal, F. Airaud, J. Chettrit, E. Cauchin, J. F. Mosnier, S. Bézieau. 1205F RAD51 paralogs mutation screening in breast and ovarian cancer families. L. Golmard, V. Caux-Moncoutier, G. Davy, E. Al Ageeli, B. Poirot, C. Tirapo, D. Michaux, C. Barbaroux, C. Dubois d Enghien, L. Castéra, M.-H. Stern, C. Houdayer, D. Stoppa-Lyonnet. POSTER SESSIONS 1194W microrna in biofluids robust biomarkers for disease, toxicology or injury studies: The case of minimally invasive colorectal cancer detection. P. Mouritzen, T. Blondal, D. Andreasen, N. Tolstrup, M. W. Teilum, A. Baker, S. J. Nielsen. 1195T Detection of KRAS, BRAF, NRAS and PIK3CA cancer markers by castpcr technology. J. Au-Young, D. Keys, B. Ching, M. Mouanoutoua, D. Merrill. 1196F Identifying the causes of dyskeratosis congenita: The prototypical telomere biology disorder. S. A. Savage, N. Giri, B. Ballew, B. P. Alter. 1197W Germline BAP1 mutation: Additional case report and expanding clinical phenotype. R. Pilarski, C. M. Cebulla, T. Rich, L. Strong, M. H. Abdel-Rahman. 1198T Detection of human breast cancer gene fusions from RNA-sequencing analysis of formalin-fixed paraffin-embedded tissue specimens. Y. Ma, J. Stephans, R. Ambannavar, J. Jeong, J. Morlan, A. Dei Rossi, M. Liu, D. Sinicropi, J. Baker, K. Qu. 1199F Analysis of quantitative trait loci (eqtls) in pancreatic cancer by RNA sequencing. H. Parikh, J. Jia, W. Xiao, I. Collins, J. Hoskins, J. Powell, S. Thorgeirsson, J. Shi, G. Petersen, L. Amundadottir. 1200W Identification of fusion transcripts and copy number variations in acute lymphoblastic leukemia by next-generation RNA and DNA sequencing. M. Bonin, C. Schroeder, M. Sturm, U. Pflückhahn, M. Feldhahn, O. Kohlbacher, H. G. Rammensee, P. Lang, O. Riess, P. Bauer, M. Walter. 1201T Admixture rate estimation and post-call correction for complete genomics matched tumornormal whole genome sequencing data. M. Chen, Z. Omay, A. Serin, M. Gunel, H. Zhao. 1202F Transcriptome analysis of blast cells of patients with acute lymphoblastic leukemia in diagnosis and relapse. M. A. Chiabai, G. R. Fernandes, L. H. T. 1206W MLH1, MSH2 and MSH6 mutations identified by DNA sequencing and MLPA analysis: Experience from the Colon Cancer Family Registry. S. R. Gunawardena, M. S. DeRycke, N. M. Lindor, M. A. Jenkins, J. L. Hopper, D. D. Buchanan, S. Gallinger, P. Newcomb, L. LeMarchand, R. W. Haile, S. N. Thibodeau, Colon Cancer Family Registry. 1207T Whole-exome sequencing of a rare case of familial childhood acute lymphoblastic leukemia. J. Healy, C. Richer, J. F. Spinella, V. Saillour, R. Vidal, E. Bareke, S. Busche, B. Ge, T. Pastinen, D. Sinnett. 1208F Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania. R. Janavicius, V. Rudaitis, L. Griskevicius. 1209W A broad re-sequencing study of 409 genes in NCI-60 cell lines using the Ion Ampliseq Comprehensive Cancer Panel and Ion PGM semiconductor sequencing reveals previously unreported cell line-specific mutations. B. S. G. Kong, M. Shannon, I. Casuga, D. Joun, S. M. Chen, C.-Y. Li, D. Ruff, R. Bennett. 1210T Germline sequencing for aggressive prostate carcinoma. D. Larson, D. Koboldt, E. Appelbaum, M. O Laughlin, R. Fulton, J. Haslag-Minoff, I. Borecki, A. Kibel, R. Wilson, E. Mardis. 1211F A next-generation sequencing diagnostic panel to test all cancer susceptibility genes. S. S. Mahamdallie, E. Ruark, K.-W. Lau, A. Renwick, S. Seal, E. Ramsay, S. Hanks, J. Douglas, N. Rahman. 1212W New germline MET variants inhereditary papillary type 1 renal carcinomas within the French population. E. Rouleau, C. Lefol, S. Caputo, V. Verkarre, C. Guy, F. Copigny, C. Maugard, O. Caron, F. Eisinger, P. Berthet, Y.-J. Bignon, J. Chiesa, A. David, T. Frebourg, S. Giraud, S. Lejeune, J.-M. Limacher, H. Zattara, S. Deveaux, I. Bieche, S. Richard, R. Lidereau. 1213T Rare mutations in XRCC2 confer increased risk of breast cancer. M. Southey, D. J. Park, F. Lesueur, T. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

162 160 POSTER SESSIONS Nguyen-Dumont, M. Pertesi, F. A. Odefrey, F. Hammet, S. L. Neuhausen, E. M. John, I. L. Andrulis, M. B. Terry, M. Daly, S. Buys, F. Le Calvez-Klem, A. Lonie, B. J. Pope, H. Tsimiklis, C. Voegele, F. M. Hilbers, N. Hoogerbrugge, A. Barroso, A. Osorio, G. G. Giles, P. Devilee, J. Benitez, J. L. Hopper, S. V. Tavtigian, D. E. Goldgar, kconfab, BCFR. 1214F Identification of genetic susceptibility loci for familial prostate cancer through whole exome sequencing: The ICPCG study design. S. N. Thibodeau, M. DeRycke, S. McDonnell, S. Gunawardena, Y. W. Asmann, S. Middha, L. Cannon-Albright, J. L. Stanford, E. A. Ostrander, W. B. Isaacs, J. Xu, J. Schleutker, K. A. Cooney, E. M. Lange, J. D. Carpten, J. E. Bailey-Wilson, O. Cussenot, G. G. Giles, G. Severi, C. Maier, A. S. Whittemore, C. L. Hsieh, F. Wiklund, W. J. Catalona, W. D. Foulkes, D. Mandal, R. Eeles, D. Easton, D. Seminara, D. Schaid on behalf of International Consortium for Prostate Cancer Genetics. 1215W Discovery of novel long noncoding RNAs and aberrant alternative splicing events by RNAsequencing in childhood acute lymphoblastic leukemia. R. Vidal, J. F. Spinella, V. Saillour, C. Richer, J. Healy, E. Bareke, S. Busche, B. Ge, T. Pastinen, A. Droit, D. Sinnett. 1216T Association of polymorphisms in the FOXE1 gene, but not NKX2-1, with familial papillary thyroid carcinoma. S. G. Wilson, C.-Y. Yan, L. Ward, S. Chew, V. Panicker, S. J. Brown, S. Chiripal, J. Goldblatt, T. D. Spector, J. Walsh. 1217F XPC gene founder splicing site mutation is common in Brazilian xeroderma pigmentosum patients. M. I. W. Achatz, K. M. Santiago, F. P. Vairo, P. Ashton-Prolla, P. F. V. de Medeiros, R. M. Rocha, S. R. Rogatto. 1218W Rare variants in genes from esophageal squamous cell carcinoma genome-wide association studies identified by exome/whole genome sequencing of high-risk upper gastrointestinal cancer families. A. M. Goldstein, N. Hu, K. J. Jacobs, L.-J. He, X.-Y. Han, M. Rotunno, M. Cullen, J. Boland, H. Su, L. Wang, C. Wang, L. Burdett, M. Malasky, A. Hutchinson, M. Yeager, T. Ding, C. Giffen, M. A. Tucker, S. J. Chanock, M. Lee, P. R. Taylor. 1219T Identification of breast cancer susceptibility genes. L. Guidugli, J. N. Weitzel, X. Wang, S. Hart, F. J. Couch, C. Szabo. 1220F Mutations in SDHA are a common cause of paragangliomas and pheochromocytomas and give rise to a diverse tumor spectrum. A. R. Mensenkamp, J. U. Rao, K. L. I. van Gassen, B. Kusters, J. W. M. Lenders, H. P. M. Kunst, H. J. L. M. Timmers, M. J. L. Ligtenberg. 1221W Identifying novel cancer susceptibility genes through exome sequencing and copy number analysis of individuals with Li Fraumeni-like cancer phenotypes. S. E. Plon, L. C. Strong, B. Powell, L. Jiang, H. Cheung, D. Ritter, D. M. Muzny, D. A. Wheeler, R. A. Gibbs. 1222T Development and validation of NGS-based molecular diagnosis of inherited forms of colorectal cancer. J. Tinat, F. Charbonnier, S. Coutant, R. Marlin, G. Bougeard-Denoyelle, S. Baert-Desurmont, M. Tosi, T. Frebourg, I. Tournier. 1223F Interpretation of variants of unknown significance with a large database of genotyped and phenotyped individuals. B. T. Naughton, A. Chowdry, J. M. Macpherson, G. M. Benton. 1224W Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. E. R. Thompson, M. A. Doyle, S. M. Rowley, D. Y. H. Choong, G. K. Philip, A. H. Trainer, P. A. James, G. Mitchell, I. G. Campbell, kconfab. 1225T Cancer genetic testing panels: Preliminary experience within an adult genetics practice. C. G. Selkirk, S. M. Weiss, K. J. Vogel, A. C. Newlin, S. M. Weissman, P. J. Hulick. 1226F Thirty percent of breast cancer families negative by commercial BRCA1/BRCA2 testing are resolved by mutations in 13 other breast cancer genes, by BRCA1/ BRCA2 phenocopies, and by BRCA1/BRCA2 CNVs. T. Walsh, S. Casadei, A. M. Thornton, G. Bernier, C. H. Spurrell, S. M. Stray, J. Mandell, M. K. Lee, M.-C. King. 1227W Comparison of next-generation sequencing with traditional sequencing and MLPA for BRCA1 and BRCA2 testing. K. Chun, A. Brown, K. Ng, R. Denroche, J. D. McPherson. 1228T Genomic capture and massively parallel sequencing reveals inherited loss-of-function mutations in 8 genes in 19% of familial breast cancer patients from Greece. A. Stavropoulou, T. Walsh, F. Fostira, M. Tsitlaidou, S. Casadei, S. Glentis, G. Fountzilas, I. Konstantopoulou, M. C. King, D. Yannoukakos. 1229F Elevated rate of somatic L1 retrotransposition in colorectal tumors. S. Solyom, A. D. Ewing, E. Rahrmann, T. Doucet, H. H. Nelson, D. F. Sigmon, A. Casella, B. Erlanger, S. Wheelan, G. Faulkner, D. Haussler, D. Largaespada, H. H. Kazazian. 1230W Mutational analysis of splicing machinery genes SF3B1, U2AF1 and SRSF2 in myelodysplasia and other common tumors. S. Lee, E. Je, M. Kim, J. Oh, N. Yoo. 1231T Calling allele or haplotype-specific copy number in tumor sequence data. N. Dewal, Y. Hu, M. L. Freedman, T. LaFramboise, I. Pe er, R. A. Gibbs, D. A. Wheeler. 1232F Somatic mutation detection of tumor and matched-normal samples for semiconductor-based sequencing. A. H. Joyner, S. Utiramerur, D. Brinza, H. Breu, B. Krishnaswami, A. Shukla, J. Zhai, Y. Lou, F. Hyland, D. Thomas, E. Beasley. 1233W Acute lymphoblastic leukemia: Novel therapeutic approach based on an active patientindividualized multipeptide vaccination. C. Schroeder, M. Sturm, U. Pflückhahn, M. Feldhahn, O. Kohlbacher, W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

163 POSTER SESSIONS 161 S. Stevanovic, H. G. Rammensee, P. Lang, O. Riess, P. Bauer. 1234T No evidence for the role of somatic mutations and promoter hypermethylation of FH gene in the tumorigenesis of nonsyndromic uterine leiomyomas. S. Vaidya, K. P. Rao, Q. Hasan. 1235F Somatic mutation spectrum of metastatic melanoma through exome sequencing of 48 tumornormal pairs. M. D. Willard, J. N. Calley, S.-S. Wong, R. H. Higgs, X. Ma, P. J. Ebert, S. M. Bray, I. H. Wulur, Y. Yue, Y. Lin, J. Wang, A. Aggarwal, S. Li, C. R. Reinhard, A. B. West, T. D. Barber. 1236W RNA-seq identifies differentially expressed genes and mutations in oligodendrogliomas. E. Schrock, K. Szafranski, J. A. Campos Valenzuela, S. Schauer, D. Krex, A. Rump, K. Hackmann, G. Schackert, L. Kaderali, M. Platzer, B. Klink. 1237T Identification and quantification of somatic mutations with the Ion AmpliSeq Cancer Panel. M. Andersen, S. Roman, K. Rhodes, C. VanLoy, A. Broomer, D. Topacio, G. Roma, R. Bennett, T. Neff, C. Beadling, C. Corless. 1238F Whole-genome and targeted sequencing analysis of early stage high-grade serous ovarian cancer. M. Bibikova, S. Humphray, R. Grocock, J. Peden, F. Nielsen, Z. Kingsbury, J. Chien, E. L. Goode, V. Ho, C. April, S. Munchel, J. Cottrell, Y. Tarabishy, J. M. Cunningham, S. Kaufmann, L. C. Hartmann, K. R. Kalli, V. Shridhar, J.-B. Fan, G. Heath, D. Bentley. variants by ultra deep sequencing (.1000x) across 409 oncogenes. T. T. Harkins, C. C. Lee, M. Andersen, E. Levandowsky, M. Dindinger, J. Spangler, T. Ross, S. McLaughlin, V. Sheth. 1245W Targeted sequencing of clinically relevant genes using TargetRich gene panels. K. Jansen Spayd, I. A. Vasenkova, T. Shvetsova, D. A. Kloske, R. C. Bachmeyer, D. T. Moore, K. E. Varley. 1246T Rapid and economical re-sequencing of hundreds of genes from sample-limited specimens using the Ion AmpliSeq Comprehensive Cancer Panel and Ion PGM semiconductor sequencing. D. Joun, S, M. Chen, B. Kong, I. Causga, C.-Y. Li, D. Ruff, R. Bennett, M. Shannon. 1247F Bayes-MutSig: A novel approach to determine significantly mutated genes. N. B. Larson, H. Sicotte, J. Sinnwell, K. R. Kalari, E. Wieben, L. Wang, J. C. Boughey, M. Goetz, R. Weinshilboum, B. L. Fridley. 1248W The transcriptional landscape and mutational profile of lung adenocarcinoma. W. Lee, Y. Ju, J. Shin, J. Lee, B. Thomas, J. Lee, Y. Jung, J. Kim, J. Shin, S. Yoo, J. Kim, E. Lee, C. Kang, I. Park, H. Rhee, S. Lee, J. Kim, J. Kang, Y. Kim, J. Seo. 1249T Genes with single nucleotide variations in earlyonset female breast cancer patients identified through exome sequencing. C. Lee, N. Leng, W. Kuo, H. Yang, K. Nobuta, C. Lin, C. Chang, Y. Lu, K. Lo, L. Hu, H. Chu, W. Chou, C. Chen, W. Yao, K. Chiu, A. Cheng, C. Shen, K. Chang, C. Haudenschild, C. Chen. POSTER SESSIONS 1239W Detection of somatic mutations in tumor genomes using de novo assembly with assembly to assembly mapping. A. R. Carson, W. Pfeiffer, T. Schwartz, G. Oliveira, T. Nicholas, G. Zhang, M. A. Miller, E. J. Topol, S. Levy. 1240T Identification of therapeutic targetable mutations in cancer by whole transcriptome and genome sequencing. D. W. Craig, W. Liang, W. Tembe, A. Christoforides, J. Aldrich, T. Izatt, J. M. Trent, J. D. Carpten. 1241F Identification of somatic mutations in parathyroid tumors using whole exome sequencing. M. K. Cromer, L. F. Starker, M. Choi, R. Udelsman, C. Nelson- Williams, R. P. Lifton, T. Carling. 1242W Exome sequencing of metastatic prostate tumors, GWAS and functional analysis of the methylation regulator TET2 in prostate cancer. M. Dean, M. Nickerson, K. M. Im, K. J. Misner, W. Tan, H. Lou, D. W. Wells, K. Frederickson, T. Harkins, T. Naab, B. Gold, T. Andersson, B. Zbar, W. M. Linehan, G. S. Bova, H. Li, S. Anderson, M. Yeager. 1243T Identification of novel driver mutation in EGFR/ KRAS/ALK: Negative lung adenocarcinoma of never smokers by whole exome sequencing. S. Han, J. Yoon, J. Ahn, H. Jang, M. Lee, H. Kim, B. Cho, J. Lee. 1244F Detection of low frequency tumorigenesis 1250F Pathway analysis of somatic mutations in the whole genome sequence of aggressive tumors in African American prostate cancer patients. K. Lindquist, R. Kazma, J. A. Mefford, T. J. Hoffmann, N. Cardin, B. A. Rybicki, D. A. Chitale, A. Levin, J. S. Witte. 1251W SeqWright s next-gen sequencing of FFPE tumor tissue allows for analysis of multiple cancer markers with high sensitivity and excellent correlation to other validated clinical methods. A. C. Pond, X. X. Tan, L. T. Szkotnicki, V. Venegas, E. Zhou, Y. Mou, K. B. Thomas, P. Choppa, K. Guekunst, F. Lu. 1252T Amplicon sequencing of tumors from xenograft, FFPE and fresh frozen samples. B. Riley-Gillis, C. Qiu, O. Puig, R. Benayed. 1253F Loss of the canonical Notch mediator RBPJ is recurrent in oligoastrocytomas. P. Salo, E. I. Gaál, O. Tynninen, M. Niemelä, A. Laakso, A. Karppinen, A. Paetau, H. Mäenpää, J. Hernesniemi, M. Perola. 1254W Characterization of a small cell prostate cancer using exome sequencing. A. F. Scott, D. W. Mohr, H. Ling, G. S. Liptak. 1255T Profiling mutations in circulating tumor cells from breast cancer patients by targeted sequencing. Y. Shen, X. Xu, W. DeWitt, N. Xu, F. Z. Bischoff, K. D. Crew, D. L. Hershman, M. A. Maurer, R. Parsons, K. Kalinsky. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

164 162 POSTER SESSIONS 1256F Exome and whole genome mutational landscape in pancreatic ductal adenocarcinoma. L. Timms, A. Panchal, L. Mullen, J. Johns, R. Denroche, R. De Borja, F. Yousif, Z. Zha, M. Sam, A. M. K. Brown, T. Beck, J. D. McPherson. 1257W De novo germline mosaic BRCA1 exon deletion associated with bilateral breast cancer. M. Tischkowitz, I. Delon, A. Taylor, A. Molenda, J. Drummond, K. Oakhill, A. Girling, H. Liu, J. Whittaker, R. Treacy. 1258T Single-nucleotide variant calling from lowcoverage single-cell sequence data using tumor population structure. S. Vattathil, N. Navin, P. Scheet. 1259F Initial genomic analysis of a pure erythroid leukemia developing in association with hydroxyurea treatment for sickle cell anemia. Z. Wang, D. Darbari, Z. McIver, I. Maric, L. Diaw, Y. Song, P. Johansson, J. B. He, J. Wei, A. J. Barrett, J. Khan, J. G. Taylor. 1260W Novel L1 and Alu retrotransposon insertions in cancer-related gene loci in the NCI-60 cancer cell lines. J. Zampella, K. Burns. 1261T Exome sequencing approach for identification of causative mutations in neurofibromatosis type 1-associated plexiform neurofibromas. A. Pemov, H. Li, M. Wallace, D. R. Stewart, NISC Comparative Sequencing Program, NHGRI, NIH Intramural Sequencing Center. 1262F DICER1 RNAseIIIb domain is mutated at two different sites in two different lesions in the same patient. M. Wu, N. Sabbaghian, N. Hamel, C. Choong, A. Charles, W. Foulkes. 1263W Multiplex PCR-based targeted deep sequencing of the comprehensive human lung cancer gene panel for the detection of KRAS and EGFR mutations. Q. Peng, R. Gardner, N. Slepushkina, V. Devgan. 1264T Highly sensitive detection of rare somatic mutations in tissue and plasma. A. Marziali. 1265F Integrative investigation on breast cancer by ER, PR and HE2-defined subgroups using mrna and microrna expression profiling and cancer core pathway analysis. X. Dai, S. Khan, T. Heikkinen, P. Heikkilä, K. Aittomäki, C. Blomqvist, D. Greco, H. Nevanlinna. 1266W Novel oligoheterocycles and potential ability as anti-cancer therapy. S. Al-Aqeel. 1267T Relative telomere length differs according to DNA extraction method. L. Boardman, K. Litzelman, R. Johnson, M. Devine, R. Firl, A. Johnson, M. Vincent, J. Cunningham, C. Engelman, S. Seo, R. Gangnon, D. Rider, G. Petersen, S. Thibodeau, H. Skinner. 1268F Hereditary breast/ovarian cancer in Algerian population: Molecular analysis of BRCA1 and BRCA2 genes. F. Cherbal, R. Bakour, S. Adane, K. Boualga, N. Salhi, A. Chikh, P. Maillet. 1269W GENECAPP: Sequence-specific in vivo analysis of protein-dna interactions in human cancer cell lines. H. Guillen Ahlers, A. Ludwig-Kubinski, S. Tian, C. Anderson, A. M. Greene, J. Kennedy-Darling, M. Levenstein, R. Knoener, M. Chesnik, M. Scalf, Y. Yuan, R. Cole, M. Shortreed, L. Cirillo, R. Stewart, L. M. Smith, M. Olivier. 1270T Examination of UVR-induced DNA damage and repair and its association with apoptosis in human keratinocytes and fibroblasts. M. Karbaschi, M. D. Evans, S. Macip, M. S. Cooke. 1271F The IRS1 rs genetic variant and the protection against cancer. S. Romeo, C. Maglio, J. Andersson Assarsson, K. Sjöholm, L. Sjöström, L. M. Carlsson. 1272W Lynch syndrome: Awareness among medical students at a United States medical school. J. S. Taylor, M. K. Frey, M. Biewald, M. Worley, Jr., S. Lin, K. Holcomb. 1273T Characterization of active chromatin signatures in testicular germ cell tumor cell lines. S. J. White, Y. van de Zwan, C. M. de Boer, F. Rossello, L. H. J. Looijenga, A. J. Notini. 1274F Single nucleotide polymorphisms and cancer risk in individuals with Costello syndrome. B. A. Thompson, G. Desachy, J. Quinn, A. E. Toland, L. A. Weiss, K. A. Rauen. 1275W Assessment of Individuals with BRCA1 and BRCA2 large genomic rearrangements in high-risk breast cancer and ovarian cancer families. L. Zhang, A. Arnold, M. Harlan, M. Robson. 1276T Genetic background of familial colorectal cancer type X. T. T. Nieminen, J.-P. Mecklin, H. J. Järvinen, P. Peltomäki. 1277F Development of a robust method for establishing B cell lines using Epstein-Barr virus. I. Danjoh, R. Shirota, Y. Nakamura. 1278W Association of single nucleotide polymorphisms in ERa, ERb, CYP17A1 and CYP19A1 with breast cancer risk: A case control study from North India. S. Chattopadhyay, S. V. S. Deo, N. K. Shukla, S. A. Husain. 1279T Efficacy of Sequenom Sample ID Plus SNP genotyping in identification of FFPE tumor samples. J. K. Miller, N. Buchner, D. Pasternack, J. D. McPherson. Statistical Genetics and Genetic Epidemiology 1280W Gene-specific accelerated transcriptional W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

165 POSTER SESSIONS 163 aging in type 2 diabetes. J. Kent, M. Almeida, J. Peralta, H. H. H. Göring, J. Curran, M. Johnson, T. Dyer, S. Cole, J. Jowett, A. Comuzzie, M. Mahaney, L. Almasy, J. MacCluer, E. Moses, R. Duggirala, J. Blangero, S. Williams-Blangero. 1281T Integrating metabolomic information in genomewide association studies. R. Rueedi, M. Ledda, T. Corre, R. Salek, V. Mooser, P. Vollenweider, G. Waeber, U. K. Genick, Z. Kutalik, S. Bergmann. 1282F Application of principal components analysis to the investigation of expression profile data. H. H. H. Göring, A. R. Sanders, E. I. Drigalenko, W. Moy, J. Duan, J. E. Curran, M. P. Johnson, E. K. Moses, J. Blangero, P. V. Gejman. 1283W Prioritization of SNPs identified in micrornas and their targeted genes by integrated analysis of high throughput datasets. X. Chen, H. Zhao. 1284T Cis- and trans-eqtl analysis in 5,311 unrelated peripheral blood samples identifies novel disease pathways and helps to pinpoint causal variants. H. Westra, T. Esko, M. J. Peters, C. Schurmann, H. Yaghootkar, J. Kettunen, M. W. Christiansen, R. S. N. Fehrmann, G. J. te Meerman, A. Hofman, F. Rivadeneira, E. Reinmaa, R. C. Jansen, J. Brody, S. A. Gharib, A. Suchy-Dicey, D. Enquobahrie, A. G. Uitterlinden, C. Wijmenga, B. M. Psaty, S. Ripatti, T. Frayling, A. Teumer, A. Metsepalu, J. B. J. van Meurs, L. Franke. 1285F Ridge regression for genetic data: A semiautomatic method to guide the choice of ridge parameter. E. Cule, M. De Iorio. 1286W Defining the functional significance of genes using natural human knockouts. J. D. Hoffman, K. O. Polzin, A. E. Fish, P. Mayo, N. Schnetz-Boutaud, J. L. Haines. 1287T Intronic single nucleotide polymorphism of CALM-1 gene is significantly associated with osteoarthritis knee. S. Raj, R. Srivastava, D. Sanghi, S. Awasthi, A. Mishra. 1288F Genetic risk factor in development and progression of osteoarthritis knee. R. N. Srivastava, A. Mishra, S. Raj, D. Sanghi. C. Schacherer, J. Gardner, M. Ross, J. Gershenwald, J. Reveille, L. Wang, Q. Wei, C. Amos, J. Lee. 1292W TGFBR1 variant associated with constitutively decreased TGF-b signaling and risk for colorectal cancer. M. J. Pennison, N. Bellam, J. Zimmerman, Q. Zeng, M. Wang, M. Sadim, V. Kaklamani, N. Yi, K. Zhang, J. Baron, D. O. Stram, B. Pasche, CCFR Investigators, Colon Cancer Family Registry, National Cancer Institute. 1293T Limited survival of MEN1 patients with mutations in the JunD interacting domain and first elements for intrafamilial correlation in MEN1 syndrome: A study from the GTE cohort. J. Thevenon, A. Bourredjem, L. Faivre, A. Costa, E. Gautier, C. Bonithon-Kopp, A. Calender, C. Binquet, P. Goudet, Members of Groupe d tude des Tumeurs Endocrines. 1294F Association of vitamin D receptor gene polymorphism and vitamin D status in knee osteoarthritis. D. Sanghi, R. Srivastava, S. Raj. 1295W Association between neural genes DRD2, AVPR1a, and ASPM and endophenotypes of speech sound disorder. C. M. Stein, F. Qiu, B. Truitt, R. Raghavendra, P. Joseph, A. A. Avrich, R. P. Igo, Jr., J. Tag, L. Freebairn, H. G. Taylor, B. A. Lewis, S. K. Iyengar. 1296T Parent-of-origin effects and gender differences influence age-at-onset variation in FAP ATTRV30M kindreds. C. Lemos, T. Coelho, A. Martins-da-Silva, J. Sequeiros, A. Sousa. 1297F Genome-wide analysis of germline copy number aberrations and association with breast cancer susceptibility. Y. Sapkota, B. S. Sehrawat, S. Ghosh, P. J. Robson, C. E. Cass, J. R. Mackey, S. Damaraju. 1298W Whole-genome detection of disease-associated deletions or homozygosity in a case-control study of rheumatoid arthritis. C. C. Wu, S. Shete, E. J. Jo, Y. E. Lu, Y. Xu, W. V. Chen, C. I. Amos. 1299T T1D risk score modeling using dense genotypes in autoimmune associated genomic regions in 6,670 cases and 9,416 controls and validation in 2,601 affected sibpair families and 69 trio families. W.-M. Chen, S. Onengut-Gumuscu, P. Concannon, S. S. Rich, T1DGC. POSTER SESSIONS 1289W Functional variant within vitamin D metabolism gene ACADSB is associated with a more severe disease in multiple sclerosis. M. F. George, F. B. S. Briggs, P. P. Ramsay, H. Quach, A. Bernstein, B. Acuna, L. Shen, E. Mowry, C. Schaefer, L. F. Barcellos. 1290T Homozygous c.14576g.a variant of RNF213 predicts early-onset and severe form of Moyamoya disease. S. Miyatake, N. Miyake, H. Touho, H. Doi, H. Saitsu, K. Shimojima, T. Yamamoto, N. Okamoto, N. Kawahara, Y. Kuroiwa, M. Taguri, S. Morita, Y. Matsubara, S. Kure, N. Matsumoto. 1291F C-reactive protein as a prognostic marker in melanoma progression. S. Fang, Y. Wang, D. Sui, H. Liu, 1300F Variants in/near DNER are reproducibly associated with type 2 diabetes in Pima Indians. Y. L. Muller, M. AbdusSamad, R. Hanson, W. C. Knowler, C. Bogardus, L. Baier. 1301W Two multiple sclerosis risk variants from a large genome-wide association study are associated with disease progression in a population-based case cohort. H. Quach, M. F. George, F. B. S. Briggs, P. P. Ramsay, B. Acuna, L. Shen, E. Mowry, A. Bernstein, C. Schaefer, L. F. Barcellos. 1302T Unraveling phenotype heterogeneity in prostate cancer susceptibility in Finland utilizing covariatebased analysis. C. D. Cropp, C. L. Simpson, T. Wahlfors, W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

166 164 POSTER SESSIONS A. George, M. P. S. Jones, U. Harper, D. Ponciano- Jackson, T. L. Tammela, J. Schleutker, J. E. Bailey-Wilson. 1303F A search for genetic variants predisposing to radiation-induced meningioma. R. Bruchim, B. Oberman, R. Milgram, I. Novikov, S. Sadetzki. 1304W Variants in one-carbon metabolism and blood folate, homocysteine and B12 deficiency in a population-based study. K. S. Crider, D. R. Maneval, N. F. Dowling, L. B. Bailey, G. Kaudwell, L. Hao, Z. Li, R. J. Berry. 1305T Disease-associated genotype and allele sharing among human populations from throughout the world. M. M. DeAngelis, M. A. Morrison, D. J. Morgan, K. Mayne, R. Robinson, G. Silvestri, D. A. Schaumberg, E. E. Tsironi, I. K. Kim, J. Ramke, K. H. Park, L. A. Farrer. 1306F Hidden heritability and risk prediction based on genome-wide association studies. N. Chatterjee, B. Wheeler, J. Sampson, P. Hartge, S. Chanock, J. Park. 1307W Obesity susceptibility loci and associations across the pediatric body mass index distribution. S. F. A. Grant, H. Hakonarson, T. R. Rebbeck, J. A. Mitchell. 1308T Large-scale genome-wide association metaanalysis using imputation from 2188-haplotype 1000 Genomes reference panel identifies five novel susceptibility loci for BMI and additional novel sexspecific loci for BMI and WHR. M. Horikoshi, R. Mägi, I. Surakka, S. Wiltshire, A. Sarin, A. Mahajan, L. Marullo, T. Ferreira, S. Hägg, J. S. Ried, T. Winkler, G. Thorleifsson, N. Tsernikova, T. Esko, C. Willenborg, C. P. Nelson, M. Beekman, S. M. Willems, A. P. Morris, C. M. Lindgren, M. I. McCarthy, S. Ripatti, I. Prokopenko on behalf of ENGAGE Consortium. 1309F A two-stage genome-wide association study to identify single nucleotide polymorphisms associated with development of erectile dysfunction following radiotherapy for prostate cancer. S. Kerns, R. Stock, N. Stone, M. Buckstein, Y. Shao, C. Campbell, L. Rath, R. Hixson, J. Cesaretti, M. Terk, H. Ostrer, B. Rosenstein, Collaboration developed under Radiogenomics Consortium. 1310W Genetic variation and vitamin D sufficiency in the U.S. population (NHANES III). C. O. S. Neal, J. M. Jackson, K. S. Crider. 1311T The genome-wide association study of phenotypic robustness in human: A canalization study. R. Li, T. D. Spector, J. B. Richards. 1312F A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. K. Shameer, J. C. Denny, K. Ding, D. R. Crosslin, C. G. Chute, P. Peissig, J. Pacheco, R. Li, M. de Andrade, M. D. Ritchie, D. R. Masys, R. L. Chisholm, E. B. Larson, C. A. McCarty, D. M. Roden, G. P. Jarvik, I. J. Kullo. 1313W Heterogeneity in polygenic contribution to ischemic stroke subtypes by age at onset. M. Traylor, H. S. Markus, S. Bevan, M. Dichgans, R. Malik, H. Segal, P. M. Rothwell, C. L. Sudlow, C. M. Lewis, Wellcome Trust Case Control Consortium (WTCCC2). 1314T Strategies for developing prediction models with increased discriminatory accuracy from genome-wide association studies. J. Wu, R. M. Pfeiffer, M. H. Gail. 1315F Concurrent modeling of multiple phenotypes and genotypes in family data: Implications for cleft gene discovery. M. Govil, N. Mukhopadhyay, R. M. Silva, A. R. Vieira, S. M. Weinberg, K. Neiswanger, M. L. Marazita. 1316W A phenome-wide association study using multiple National Health and Nutrition Examination Surveys to identify pleiotropy. M. A. Hall, A. Verma, K. D. Brown-Gentry, R. Goodloe, J. Boston, S. Wilson, B. McClellan, C. Sutcliffe, H. H. Dilks, N. B. Gillani, H. Jin, P. Mayo, M. Allen, N. Schnetz-Boutaud, S. A. Pendergrass, D. C. Crawford, M. D. Ritchie. 1317T Genetic variants in pigmentation genes, skin color, and risk of skin cancer in Japanese. T. Suzuki, Y. Abe, J. Yoshizawa, Y. Hozumi, T. Nakamura, G. Tamiya. 1318F Validity of the Mendelian randomization approach: Do the principles really hold? M. Taylor, N. J. Timpson, J. P. Kemp, B. St. Pourcain, D. M. Evans, S. M. Ring, D. A. Lawlor, G. Davey Smith. 1319W Polygenic modeling of healthy aging. N. E. Wineinger, G. Atzmon, N. Barzilai, N. J. Schork. 1320T Extended haplotype association study in Crohn s disease identifies a novel Ashkenazi Jewishspecific missense mutation in the NF- B pathway gene, HEATR3. K. Y. Hui, W. Zhang, A. Gusev, N. Warner, G. Nuñez, I. Pe er, I. Peter, J. H. Cho. 1321F Association analysis of CYP2A6 polymorphism in SIDS. Y. Inaoka, M. Nakatome, F. Satoh, I. Hasegawa, M. Q. Fujita, M. Osawa. 1322W Do severity of early lung disease and meconium ileus in cystic fibrosis have common genetic contributors? W. Li, D. Su, T. Chiang, X. Li, M. R. Miller, K. Keenan, H. Corvol, F. A. Wright, S. Blackman, M. L. Drumm, G. R. Cutting, M. R. Knowles, P. R. Durie, J. M. Rommens, L. Sun, L. J. Strug. 1323T Influence of host genetics and environment on nasal carriage of Staphylococcus aureus in Danish middle-aged and elderly twins. P. S. Andersen, J. K. Pedersen, P. Fode, R. L. Skov, V. G. Fowler, Jr., M. Stegger, K. Christensen. 1324F Polygenes and estimated heritability of prostate cancer in an African American sample using GWAS data. J. He, G. Chen, B. Henderson, C. Haiman, D. Stram, Genome-Wide Association Studies of Prostate Cancer in African Americans. 1325W Using identity-by-descent information to detect W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

167 POSTER SESSIONS 165 de novo and recent mutations in population-based exome-sequencing studies. N. Solovieff, M. Fromer, D. Ruderfer, J. Moran, K. Chambert, C. Hultman, P. Sullivan, H. Williams, E. Rees, P. Gormley, A. Palotie, G. Kirov, M. Owen, M. O Donovan, P. Sklar, S. McCarroll, S. Purcell. 1326T Mitochondrial DNA polymorphism (C/T) might induce hematologic malignancy predisposition in Turkish population. N. Duzkale, A. Tatar. 1327F Significant association of LPL polymorphisms with HDL- cholesterol level in Tongan adults. I. Naka, R. Kimura, T. Inaoka, Y. Matsumura, J. Ohashi. 1328W Personalized risk prediction for prostate cancer according to specific family history. L. Cannon-Albright, F. Albright, W. Lowrance, R. Stephenson. 1329T Estimating disease risk from environmental and genetic factors to motivate behavioral changes. C. M. Lewis, J. M. Yarnall, G. H. M. Goddard, D. J. M. Crouch. structured populations. E. Kang, N. Furlotte, B. Han, J. Joo, R. Davis, A. Lusis, E. Eskin. 1338T Comparison of rare variant tests. J. Lihm, E. J. Yoon, H. Wu, T. Harris, C. Wong, J. Ceris, J. Weisburd, N. R. Mendell, W. Kim, K. Ahn, D. Gordon, S. J. Finch. 1339F Artificial intelligence analysis of prostate cancer susceptibility using a pareto-optimized computational evolution system. J. H. Moore, D. P. Hill, A. Sulovari, L. Kidd. 1340W A simple Bayesian method for modeling effect heterogenity across genetic studies. C. C. A. Spencer, P. J. Donnelly, M. Pirinen. 1341T Effectively identifying and characterizing eqtls from multiple tissues using a meta-analytic approach. J. Sul, B. Han, C. Ye, T. Choi, E. Eskin. 1342F PEDF gene polymorphism (p.met72thr) analysis in diabetic retinopathy cases. S. Passan, V. Vanita. POSTER SESSIONS 1330F Improving celiac disease risk prediction by testing non-hla variants additional to HLA variants. J. Romanos, A. Rosen, V. Kumar, G. Trynka, L. Franke, A. Szperl, J. Gutierrez-Achury, C. C. van Diemen, R. Kanninga, S. A. Jankipersadsing, A. K. Steck, G. Eisenbarth, D. A. van Heel, B. Cukrowska, V. Bruno, M. C. Mazzilli, C. Nunez, J. R. Bilbao, M. L. Mearin, D. Barisani, M. Rewers, J. Norris, A. Ivarsson, H. M. Boezen, E. Liu, C. Wijmenga, PreventCD Group. 1331W Bayesian polygenic prediction of myocardial infarction risk and lipid levels. B. Vilhjalmsson, R. Do, E. A. Stahl, B. Pasaniuc, S. Pollack, N. Zaitlen, J. Yang, M. E. Goddard, P. M. Visscher, P. Kraft, N. Patterson, S. Kathiresan, A. L. Price. 1332T Testing for the presence of liability models. C. Herold, T. Vaitsiakhovich, T. Becker. 1333F Alcohol and aldehyde dehydrogenase polymorphisms and blood pressure elevation in Japanese over 20 years. M. Isomura, T. Wang, Y. Yoshida, T. Nabika. 1334W The PPP6R3/LRP5 locus influences lean mass in children of different ethnic background and highlights pleiotropic effects on muscle-bone interactions. M. C. Medina Gomez, D. H. M. Heppe, K. Estrada, J. Van Meurs, A. Hofman, Y.-H. Hsu, D. Karasik, V. W. V. Jaddoe, M. C. Zillikens, A. G. Uitterlinden, F. Rivadeneira, GEFOS Consortium. 1335T Examining the interaction effect of SNPs associated with urinary bladder cancer. H. Schwender, S. Selinski, T. Stöcker, M. Blaszkewicz, R. Marchan, K. Ickstadt, K. Golka, J. Hengstler. 1336F Multivariate modeling for a more powerful genetic association analysis. S. Eyheramendy, C. Meza. 1337W Random-effects model for massive meta analysis in genome-wide association study with 1343W Chromosome 10 gene may be associated to response to Leishmania antigens. L. Pereira, J. Pescarini, R. Ferreira, L. M. Camargo, H. Krieger, L. M. Garrido. 1344T Genetic associations with essential amino acids in infants with patent ductus arteriosus. K. K. Ryckman, J. M. Dagle, O. A. Shchelochkov, S. L. Berberich, J. C. Murray. 1345F Low frequency SNPs are associated with congenital and severe clinical phenotypes in an eectronic medical record. J. D. Mosley, D. M. Roden, J. D. Denny. 1346W Rare variant testing for meta-analysis and survival analysis. H. Chen, T. Lumley, J. Dupuis, J. Brody, A. Morrison, B. Cornes, D. J. Lybarger, B. Davis, C. Sitlani, D. Siscovick, J. B. Meigs, L. A. Cupples. 1347T Selection of sequence variants for quantitative traits using penalized regression: Using LASSO, LARS and elastic net in the tiled regression framework. Y. Kim, B. Suktitipat, A. J. M. Sorant, A. F. Wilson. 1348F Identification of genome-wide SNPs that are informative for individual genetic heritage in the family investigation of nephropathy and diabetes. R. C. Williams, FIND Research Group. 1349W Testing copy number variant/trait associations detected using Manhattan plots. G. A. Satten, D. Ramachandran, J. G. Mulle, A. S. Allen, L. J. H. Bean, C. Maslen, S. L. Sherman, R. H. Reeves, M. E. Zwick. 1350T A novel collapsing method for rare copy number variants. J. P. Szatkiewicz, P. F. Sullivan, J. Y. Tzeng. 1351F A pseudo-score-based meta-analysis in genetic association studies: Application to Mayo Genome Consortia data. E. Ryu, R. E. Gullerud, P. A. Decker, J. Pathak, P. J. Limburg, S. J. Bielinski. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

168 166 POSTER SESSIONS 1352W Diacylglycerol kinase K variants impact hypospadias in a California study population. S. L. Carmichael, N. Mohammed, C. Ma, D. Iovannisci, S. Choudhry, L. S. Baskin, J. S. Witte, G. M. Shaw, E. J. Lammer. 1353T GEEWAS: Family-based genome-wide association studies for non-normal responses. C. Ekstrom. 1354F An multiple testing procedure for association studies appropriately incorporating admixture signals. G. Gao, W. Chen. 1355W Correcting for population structure due to rare and common variants with an approximate Bayesian regression framework. G. E. Hoffman, J. G. Mezey. 1356T Unified association analysis of genes, regions or pathways containing multiple SNPs. L. C. Lazzeroni, A. Ray. 1357F Genome-wide association study on the variation of quantitative trait as a tool to identify important genetic variants for related complex diseases: An example of CHD risk in T2D patients. Z. Liu, Q. Qi, F. Hu, L. Qi, L. Liang. 1358W Power and sample size calculations for genetic association tests in the presence of pleiotropy. D. Londono, D. Gordon. 1359T Using regression residuals to map association between genetic variants and environmentally influenced longitudinal phenotypes. A. Musolf, D. Londono, R. Wang, J. Brandon, J. A. Herring, C. A. Wise, H. Zou, M. Jin, L. Yu, S. J. Finch, T. C. Matise, D. Gordon. 1360F Enabling mixed model association analysis for large case-control studies. A. Price, N. Zaitlen, B. Vilhjalmsson, T. Hayeck, S. Pollack, J. Yang, G. B. Chen, M. Goddard, P. Visscher, N. Patterson. 1361W Accounting for parent-of-origin effects detects association between 4q35 genetic variants and combined asthma-plus-rhinitis phenotype. C. Sarnowski, G. Malerba, Q. Vincent, C. Laprise, K. Rohde, M. F. Moffatt, P. Margaritte-Jeannin, M.-H. Dizier, P. F. Pignatti, W. O. C. Cookson, M. Lathrop, F. Demenais, E. Bouzigon, EGEA Collaborative Group. 1362T Evaluation of classical multivariate methods for gene-based tests of association with multiple related traits. Y. Shu, R. Watanabe, J. Lewinger. 1363F A two-stage random forest approach to identify genetic variants using recombination hotspot information. S. Szymczak, Q. Li, Y. Kim, A. Dasgupta, J. D. Malley, J. E. Bailey-Wilson. 1364W Effect size distribution for prioritizing results of association studies. D. Zaykin, C.-L. Kuo. 1365T Modeling multivariate and correlated data in genetic association analysis. J. H. Zhao, F. Xue, Q. Tan, S. Li, J. A. Luan. 1366F A novel spatial mapping method identifies shared genetic effects across immune-mediated diseases. C. Cotsapas, J. Kasvin-Felton. 1367W Adjust local ancestry to detect rare variants in next-generation sequencing data. X. Wang, X. Zhao. 1368T Detecting association for low-frequency variants in case-control studies. C. Xing, C. Y. Lin. 1369F The empirical assessment of statistical power of rare variant association methods. K. Hao, H. Chen, H. Zhou, Z. Kan, H. Zheng, X. Liu, S. Li, T. Barber, Z. Gong, H. Gao, M. Willard, J. Xu, R. Hauptschein, P. Rejto, G. Wang, Q. Zhang, R. Cheng, K. Sung, Z. Peng, C. Zhang, Q. Zhang, R. Poon, S. Fan, J. Wang, J. Hardwick, C. Reinhard, Y. Li, J. Luk, M. Mao, H. Dai. 1370W Rare variant burden tests and meta-analysis using summary level statistics. D. Liu, G. Abecasis. 1371T A geometric framework for the evaluation of rare variant tests of association. N. Tintle, K. Liu, S. Fast, M. Zawistowski. 1372F Subset-based approach to combined genetic association analysis of heterogeneous phenotypes. S. Bhattacharjee, S. M. Boca, P. Rajaraman, K. B. Jacobs, W. A. Wheeler, B. S. Melin, P. Hartge, M. Yeager, C. C. Chung, S. J. Chanock, N. Chatterjee, GliomaScan Consortium. 1373W Genome-wide significance thresholds for SNPs ascertained by sequencing. T. Blackwell, A. K. Manning, GoT2D Investigators. 1374T On the analysis of imputed genotypes in familybased association studies. A. Cobat, A. Alcaïs, E. Schurr. 1375F Sex-specific and X-chromosome association studies of venous thromboembolism. M. de Andrade, S. M. Armasu, L. L. Chan, J. A. Heit. 1376W Correcting for the effect of cryptic relatedness and population structure among cohorts in metaanalysis of GWAS. T. Feng, N. Morris, X. Zhu. 1377T Genome-wide association study-identified genetic variants for lipid traits are associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey. R. Goodloe, K. Brown-Gentry, N. Gillani, H. Jin, P. Mayo, M. Allen, B. McClellan, J. Boston, C. Sutcliffe, N. Schnetz-Boutaud, H. Dilks, D. Crawford. 1378F A unified framework for testing for genetic associations integrating environmental exposures. S. S. Han, P. S. Rosenberg, N. Chatterjee. 1379W Efficient association analysis for groups of genetic markers that avoids confounding by genetic structure. D. Heckerman, C. Lippert, J. Listgarten. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

169 POSTER SESSIONS T A non-threshold region-specific method for detecting rare variants in common diseases. A. R. Hsieh, C. C. Chang, C. S. J. Fann. 1381F Joint admixture and association test on African American inflammatory bowel disease identifies novel significant loci. C. Huang, S. Kugathasan, D. P. McGovern, J. H. Cho, R. H. Duerr, J. D. Rioux, M. S. Silverberg, T. Dassopoulos, L. W. Datta, L. W. H. Kao, S. R. Brant. 1382W Comparison of phylogenetic and haplotype methods for the study of genotype/phenotype association in genome-wide studies. M. G. Johnson, D. L. Swofford, M. W. Lutz, D. G. Crenshaw, A. D. Roses. 1383T Benefits of using local whole exome reference panels for the imputation of rare variants in two European populations. P. Joshi, R. M. Fraser, V. Vitart, C. Hayward, R. McQuillan, O. Polasek, S. H. Wild, N. Hastie, A. F. Wright, H. Campbell, I. Rudan, C. Haley, P. Navarro, J. F. Wilson. 1384F Combined linkage and association analyses identify a novel locus for obesity near PROX1 in Asians. H. Kim, Y. Yoo, Y. Ju, S. Lee, S. Cho, J. Sung, J. Kim, J. Seo. 1385W A more powerful burden tests to detect rare genetic variants. J. Kim, J. Lee, S. Choi, M. S. Kwon, T. Park. 1386T Efficiently identifying significant associations in genome-wide association studies. E. Kostem, E. Eskin. 1387F A multi-snp locus-association method reveals a substantial fraction of the missing heritability. Z. Kutalik, G. Ehret, D. Lamparter, C. Hoggart, J. Whittaker, J. S. Beckmann, GIANT Consortium. 1388W Leveraging input and output structures for joint association mapping of epistatic and marginal eqtls. S. Lee, E. Xing. 1389T Evaluating the power of single variant association tests for low frequency variants in joint and meta-analysis. C. Ma, T. Blackwell, M. Boehnke, L. J. Scott, GoT2D Investigators. 1390F One thousand genomes imputation in the NCI Breast and Prostate Cancer Cohort Consortium (BPC3) aggressive prostate cancer genome-wide association study. M. J. Machiela, C. Chen, L. Liang, W. R. Diver, V. L. Stevens, K. K. Tsilidis, S. J. Chanock, D. J. Hunter, P. Kraft, NCI Breast and Prostate Cancer Cohort Consortium. 1391W SHAVE Shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits. O. Meirelles, J. Ding, T. Tanaka, S. Sanna, H. Yang, D. B. Dudekula, F. Cucca, L. Ferrucci, G. Abecasis, D. Schlessinger. 1392T To adjust or not to adjust, how and when to incorporate covariates into GWA studies. G. P. Page, N. Garge, E. O. Johnson. 1393F Refining association mapping in a heterogeneous population: An example in a schizophrenia case-control study. A. Ray, L. C. Lazzeroni. 1394W Improved heritability estimation from genomewide SNP data with application to epilepsy. D. Speed, G. Hemani, M. Johnson, D. Balding. 1395T GLOMS: A mixed model-score test-based system for association studies of binary traits with risk covariates in populations of related individuals. S. Stanhope, M. Abney. 1396F Tiled regression improves the false discovery rate in genome-wide association studies. B. Suktitipat, Y. Kim, A. J. M. Sorant, H. Sung, A. F. Wilson. 1397W Gene-based association tests using dimension reduction methods and marker correlation structure. D. M. Swanson, C. Lange. 1398T Impact of hidden sample structure on meta- and joint-analysis in genome-wide association studies. P. J. Walter, H. M. Kang. 1399F Natural and orthogonal association framework to detect parent-of-origin effects. F. Xiao, J. Ma, C. Amos. 1400W Efficient calculation for multi-snp genetic risk scores. T. Johnson. 1401T Gene-gene co-association and pathwaybased co-association studies for next-generation sequencing. L. Luo, M. Xiong. 1402F May consanguinity between parents be a risk factor for insulin resistance in childhood obesity? Role of mitochondrial uncoupling protein 2 gene polymorphism. S. Oguzkan Balci, N. Col-Araz, M. Nacak, M. Araz, S. Halime, A. Balat, S. Pehlivan. 1403W A gene-based association statistic for metaanalysis. P. Chanda, H. Huang, A. Alonso, J. S. Bader, D. E. Arking. 1404T Joint testing of rare and common variants in admixed populations. H. Qin, J. Li, H.-W. Deng. 1405F The role of KIR genes polymorphisms in Brazilian patients with rheumatoid arthritis and systemic lupus erythematosus. A. R. Marrero, T. D. J. Farias, C. C. Coêlho, L. D. Hausmann, D. G. Augusto, M. L. Petzl-Erler, I. A. Pereira, A. F. Zimmermann, S. C. M. S. Fialho, Y. C. N. Muniz, I. R. Souza. 1406W Genome-wide linkage, association and gene expression analysis of antibody levels against 13 common infections. R. Rubicz, R. Yolken, E. Drigalenko, M. A. Carless, T. D. Dyer, P. E. Melton, J. W. Kent, Jr., R. Duggirala, J. E. Curran, M. P. Johnson, S. A. Cole, L. Almasy, E. K. Moses, N. V. Dhurandhar, E. Kraig, J. Blangero, C. T. Leach, H. H. H. Goring. POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

170 168 POSTER SESSIONS 1407T Combining affected families, independent cases, and controls to obtain a single, more powerful test of association. W. Stewart, J. Cerise. 1408F Mixture modeling of rare variant association within exome sequencing data. B. A. Logsdon, J. Y. Dai, P. L. Auer, S. K. Ganesh, N. L. Smith, J. G. Wilson, T. A. Graubert, R. P. Tracy, L. A. Lange, H. Tang, S. Rich, G. Lettre, C. S. Carlson, R. Jackson, C. O Donnell, M. M. Wurfel, D. A. Nickerson, C. Kooperberg, A. P. Reiner, NHLBI Exome Sequencing Project, Exome Sequencing Project Blood Counts Project Team. 1409W Detecting association of rare variants by testing an optimally weighted combination of variants in family-based designs. Q. Sha, S. Fang, S. Zhang. 1410T Haplotype-based methods for detecting uncommon causal variants with common SNPs. N. Liu, W. Lin, N. Yi, D. Zhi, K. Zhang, G. Gao, H. Tiwari. 1411F Multivariate adjusted sequence kernel association test for rare variants controlling for cryptic and family relatedness. K. Oualkacha, R. Li, B. Richards, A. Ciampi, C. Greenwood, UK10K Cohorts Goup. 1412W Robust and powerful tests for rare variants using Fisher s method to combine evidence of association from two or more complementary tests. A. Derkach, J. F. Lawless, L. Sun. 1413T Leveraging family history in genome-wide association studies. A. Ghosh, S. Wacholder, P. Hartge, M. Purdue, S. Chanock, N. Chatterjee. 1414F Identifying environmental exposures for geneenvironment investigations using LASSO penalized regression methods. E. Mowry, X. Shao, F. B. S. Briggs, B. Acuna, L. Shen, A. Bernstein, C. Schaefer, L. F. Barcellos. 1415W Application of targeted maximum likelihood estimation using genome-wide association data reveals new genetic predictors of disease severity in multiple sclerosis. X. Shao, M. van der Laan, F. Briggs, P. De Jager, L. Barcellos, International Multiple Sclerosis Genetics Consortium. 1416T Case-sibling studies that acknowledge unstudied parents and enroll unmatched individuals. M. Shi, D. M. Umbach, C. R. Weinberg. 1417F A variable-selection-based novel statistical approach to identify susceptible rare variants associated with complex diseases with deep sequencing data. H. Sun, S. Wang. 1418W Causal-Seek: A strategy for finding causal variants via trans-ethnic fine-mapping. X. Wang, Y. Teo. 1419T Novel insights into the genetics of Parkinson s disease on chromosome 17. W. W. S. Lau. 1420F Joint statistical modeling of multiple phenotypes in samples with related individuals. Z. Wang. 1421W Association of three polymorphisms of IL-18 genes (137G/C, 607C/A,133C/G) in patients with allergic rhinitis in the Iranian population. S. Ramazi, M. Motovalibashi, H. Khazraei, M. Hashemzadeh Chaleshtori. 1422T Accounting for population stratification in DNA methylation studies. R. T. Barfield, L. M. Almli, V. Kilaru, A. K. Smith, K. B. Mercer, T. Klengel, D. Mehta, E. B. Binder, K. J. Ressler, K. N. Conneely. 1423F Genetic case-control matching strategies for rare-variants analysis in genome-wide association studies. A. Lacour, T. Becker. 1424W Ancestry informative principal components analysis in structured samples with known or cryptic relatedness. T. Thornton, M. Conomos. 1425T Admixture and association mapping identifies marker in FAM19A2 associated with FEV 1 /FVC in African Americans. M. M. Parker, M. G. Foreman, R. A. Mathias, T. H. Beaty, C. R. Gignoux, E. G. Burchard, J. B. Hetmanski, E. K. Silverman, J. D. Crapo, COPDGene Investigators. 1426F The gamma method for gene set analysis of RNA-seq data: Simulation results and application to a smallpox vaccine study. B. L. Fridley, G. D. Jenkins, D. E. Grill, J. M. Biernacka, R. B. Kennedy, G. A. Poland, A. L. Oberg. 1427W Evaluation of SNP and indel imputation quality using reference haplotypes from the 1000 Genomes Project. Q. Duan, E. Y. Liu, K. L. Mohlke, D. C. Croteau- Chonka, Y. Li. 1428T An efficient design to detect transplant donor and recipient genetic interactions. W. Guan, A. K. Israni. 1429F Dissecting features of causal variants. S. Sengupta, X. Wen, G. Abecasis. 1430W Genetic programming for detecting interactions of SNPs with fuzzy genotypes in association studies. T. Stöcker, H. Schwender. 1431T Rare variant analysis for family-based design. W. Yip, G. De, I. Ionita-Lazza, N. Laird. 1432F BMI trajectory from early childhood associates with leukocyte telomere length in Northern Finnish women. S. Das, J. L. Buxton, A. Rodriguez, A. Couto, M. Kaakinen, S. Sebert, P. O Reilly, L. Coin, A. I. F. Blakemore, M.-R. Jarvelin. 1433W A model for combining data on de novo mutations with case-control data to identify risk genes. X. He, S. Sanders, L. Liu, M. State, B. Devlin, K. Roeder. 1434T Variable selection in high-dimensional meta- W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

171 POSTER SESSIONS 169 analysis for genetic data. Q. He, H. Zhang, D. Y. Lin, C. L. Avery. 1435F Integrative approaches for genetic association studies via Bayesian model uncertainty. M. A. Quintana, D. V. Conti. 1436W Meta-analysis of co-regulated subnetworks in transciptomics data: Towards functional marker profiles of human aging. E. B. van den Akker, W. M. Passtoors, E. W. van Zwet, J. J. Goeman, M. Hulsman, V. Emilsson, M. Perola, B. T. Heijmans, A. B. Maier, J. N. Kok, P. E. Slagboom, M. J. T. Reinders, M. Beekman. 1437T Integrative analysis of sequencing and GWAS data improves statistical power in detecting rare variants associated with complex diseases. Y. J. Hu, Y. Li, L. A. Lange, E. M. Lange, C. Bizon, P. L. Auer, G. Heiss, C. Kooperberg, N. Franceschini, U. Peters, A. P. Reiner, L. Hsu, S. Jiao, C. S. Carlson, K. E. North, D. Y. Lin, NHLBI GO Exome Sequencing Project. 1438F Regionally-smoothed meta-analysis for GWAS studies. F. Begum, E. Feingold. 1439W Phenotype mapping using Information Explorer. Y. Arens, J. L. Ambite, C. N. Hsu, L. Lange, S. Sharma, S. Voinea. 1440T Data reduction techniques to construct new cellular and whole system biomarkers for aging. A. Brown, Z. Ding, L. Parts, D. Glass, D. Knowles, P. Deloukas, E. Dermitzakis, M. McCarthy, T. Spector, J. Winn, R. Durbin, MuTHER Consortium. 1441F Prioritization of next-generation sequencing variants using data visualization. A. Bigelow, M. Meyer, N. J. Camp. 1442W Integrating genome-wide gene expression and genotype data to predict HDL cholesterol levels in the Cholesterol and Pharmacogenetic Study. E. Holzinger, S. Dudek, A. Frase, M. Medina, R. Krauss, M. Ritchie. 1443T ATOMIC : Assess genotype calling quality using R or Affymetrix genotyping console software. A. Ziegler, A. Schillert. 1444F Single center experience with peripheral blood gene expression profiling in a large cardiovascular cohort. E. Burns, S. Feng, C. Haynes, K. Abramson, M. Chryst-Ladd, E. R. Hauser, L. K. Newby, S. G. Gregory, W. E. Kraus, S. H. Shah. 1445W Best practices and joint calling of the Illumina HumanExome BeadChip: The CHARGE consortium. M. L. Grove, B. J. Cochran, T. Haritunians, J. C. Bis, K. D. Taylor, M. Hansen, C. J. O Donnell, J. I. Rotter, E. Boerwinkle, CHARGE Exome Chip Genotyping Committee. 1446T A supervised approach for filtering and genotyping high quality short indels from nextgeneration sequencing data. A. Tan, H. M. Kang. 1447F Merging genomic data for research in the Electronic MEdical Records and GEnomics Network: Lessons learned in emerge. M. D. Ritchie, S. Setia, G. Armstrong, L. Armstrong, Y. Bradford, D. C. Crawford, D. R. Crosslin, M. de Andrade, K. Doheny, M. G. Hayes, G. Jarvik, I. J. Kullo, R. Li, T. Manolio, M. Matsumoto, C. A. McCarty, D. Mirel, S. Nelson, L. Olson, E. Pugh, S. Purcell, G. Tromp, J. L. Haines. 1448W Detecting sample contamination. M. Flickinger, G. Jun, K. F. Doheny, J. Romm, K. N. Hetrick, G. R. Abecasis, M. Boehnke, H. M. Kang. 1449T Regression models to explain departure from Hardy-Weinberg equilibrium. D. J. Schaid, J. P. Sinnwell, G. D. Jenkins. 1450F SNP genotyping is a valuable tool for assessing the quality of next-generation sequencing data. J. Park, B. Vecchio-Pagán, H. Cuppens, G. Cutting. 1451W Imputation quality thresholds for rare and common variants. G. Pistis, C. Sidore, A. Mulas, M. Zoledziewska, R. Berutti, F. Reinier, M. F. Urru, A. Maschio, M. Marcelli, A. Angius, C. Jones, G. Abecasis, S. Sanna, F. Cucca. 1452T Error rates for very low MAF SNPs on the Illumina exome array. E. W. Pugh, H. Ling, J. M. Romm, I. A. McMullen, J. R. Huyghe, M. Boehnke, K. F. Doheny. 1453F An algorithm for identifying high-order genegene interactions from pairwise statistical epistasis networks. T. Hu, A. S. Andrews, M. R. Karagas, J. H. Moore. 1454W Fine-mapping in a covariate-based genomewide linkage scan of lung cancer susceptibility. C. L. Simpson, T. Green, B. Doan, C. I. Amos, S. M. Pinney, E. Y. Kupert, M. de Andrade, P. Yang, A. G. Schwartz, P. R. Fain, A. Gazdar, J. Minna, J. S. Wiest, H. Rothschild, D. Mandal, M. You, T. A. Coons, C. Gaba, M. W. Anderson, J. E. Bailey-Wilson. 1455T Meta-analysis of 2,526 individuals demonstrates strong evidence for gene-environment interaction between NAT1 and tobacco smoke exposure in multiple sclerosis. F. B. S. Briggs, B. Acuna, L. Shen, P. Ramsay, H. Quach, A. Bernstein, I. Kockum, L. Alfredsson, T. Olsson, C. Schaefer, L. F. Barcellos. 1456F Algebraic satistics and Markov bases in geneenvironment interactions. M. Rao, S. Venkatesan. 1457W AprioriGWAS, a frequent itemset mining approach, detects angiogenesis gene interacting with CFH in age-related macular degeneration. Q. Zhang, Q. Long. 1458T Genotype-by-environment interaction for multivariate environments using the Mahalanobis distance. V. P. Diego, H. H. H. Göring, J. Blangero. 1459F Interactions between maternal genotypes and metabolites are associated with incidence of POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

172 170 POSTER SESSIONS congenital heart defects. S. Erickson, S. Chowdhury, S. L. MacLeod, M. A. Cleves, S. Melnyk, S. J. James, P. Hu, C. A. Hobbs. 1460W A unified generalized multifactor reduction method for detecting gene-gene interactions in family and unrelated samples with application to nicotine dependence. X. Lou, G. Chen, N. Liu, Y. Klimentidis, X. Zhu, D. Zhi, X. Wang. 1461T The 5p15 locus is associated with bronchial hyperresponsiveness in siblings unexposed to tobacco smoke in early life in French families ascertained through asthma. R. Nadif, P. Margaritte-Jeannin, E. Bouzigon, F. Kauffmann, M. Lathrop, F. Demenais, M.-H. Dizier. 1462F Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus. C. J. Patel, R. Chen, K. Kodama, J. P. A. Ioannidis, A. J. Butte. 1463W A new Bayesian framework for detecting geneenvironment interaction. X. Wen, M. Stephens, P. Zheng. 1464T Overlapping G x G interactions associated with caries in permanent and primary dentition. K. Cuenco, M. K. Lee, Z. Zeng, J. R. Shaffer, X. Wang, E. Feingold, D. E. Weeks, S. M. Levy, R. J. Weyant, R. J. Crout, D. W. McNeil, M. L. Marazita. 1465F Associations and interactions of genetic polymorphisms in innate immunity genes with early viral infections and susceptibility to asthma and asthma-related phenotypes. D. Daley, J. E. Park, J. He, J. Yan, L. Akhabir, D. Stefanowicz, A. B. Becker, M. Chan- Yeung, Y. Bossé, A. L. Kozyrskyj, A. L. James, A. W. Musk, C. Laprise, R. G. Hegele, P. D. Paré, A. J. Sandford. 1466W Evidence for genetic interactions beyond variability explained by single SNPs in ulcerative colitis. M. H. Wang, X. Zhu, R. H. Duerr, C. Fiocchi, J. P. Achkar, Wellcome Trust Case Control Consortium. 1467T Influence of SNPxSNP interaction on BMI in European American adolescents: Findings from the National Longitudinal Study of Adolescent Health. K. L. Young, M. Graff, K. E. North, A. S. Richardson, L. A. Lange, E. M. Lange, K. M. Harris, P. Gordon-Larsen. 1468F Analyzing genome-wide SNP interactions using the Random Forest Fishing method. W. Yang, J. Chu, C. C. Gu. 1469W Hunting for rare genetic variants in a complex disease? Do not forget about gene-environment interactions! R. Kazma, J. Witte. 1470T Searching for an enrichment of genetic interaction signals in SNPs within known proteinprotein interactions. J. E. Mollon, B. Lehne, S. Sacks, T. Schlitt, M. E. Weale. 1471F RAPID detection of gene-gene interactions underlying quantitative traits. N. Udpa, V. Bafna. 1472W Evidence of gene-environment interaction for the chromosome 4 and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate. T. Wu, I. Ruczinski, J. C. Murray, M. L. Marazita, R. G. Munger, J. B. Hetmanski, T. Murray, R. J. Redett, M. D. Fallin, K. Y. Liang, P. J. Patel, S. C. Jin, T. X. Zhang, H. Schwender, Y. H. Wu-Chou, P. K. Chen, S. S. Chong, F. Cheah, V. Yeow, X. Ye, H. Wang, S. Huang, E. W. Jabs, B. Shi, A. J. Wilcox, R. T. Lie, S. H. Jee, K. Christensen, A. F. Scott, T. H. Beaty. 1473T Pathway-based analysis of gene-gene interactions for complex diseases. J. G. Zhang, J. Li, H. W. Deng. 1474F Identification of host gene-gene interaction in saliva flow and Streptococcus mutans using MDR. M. Lee, K. T. Cuenco, Z. Zeng, X. Wang, J. R. Shaffer, E. Feingold, D. E. Weeks, R. J. Weyant, R. J. Crout, D. W. McNeil, M. L. Marazita. 1475W Meta-analysis of gene by gene interaction. R. G. Hoffmann, K. Yan, T. J. Hoffmann, P. Simpson. 1476T Identification of gene-gene interactions for Alzheimer disease using cooperative game theory. B. Vardarajan, G. Jun, R. Mayeux, J. L. Haines, M. A. Pericak-Vance, G. Schellenberg, K. L. Lunetta, L. A. Farrer, Alzheimer s Disease Genetics Consortium. 1477F Overestimation of relatedness in admixed and ancestrally heterogeneous populations using method of moments estimation. J. Morrison. 1478W Genome-wide patterns of identity-by-descent sharing in the French Canadian founder population. H. Gauvin, C. Moreau, J.-F. Lefebvre, H. Vézina, D. Labuda, M.-H. Roy-Gagnon. 1479T Identity-by-descent-based heritability analysis in the Northern Finland Birth Cohort. S. R. Browning, B. L. Browning. 1480F Efficient and flexible IBD mapping in genomewide association studies based on graph representation of IBD information. B. Han, E. Y. Kang, V. Ramensky, N. Freimer, J. Scharf, C. Mathews, D. Yu, A. Ruiz-Linares, G. Rouleau, N. Cox, D. Pauls, E. Eskin, TSAICG. 1481W Optimization of sequencing studies in population isolates using shared ancestral haplotypes. D. Glodzik, P. Navarro, V. Vitart, R. McQuillan, S. Wild, H. Campbell, A. Wright, J. Wilson, P. McKeigue. 1482T Novel statistical model and computational methods for predicting HLA alleles from dense genotype data. Y. Guan, Y. Shen. 1483F Haplotype clusters of rare variants in Korean genomes. S. Hochreiter, G. Klambauer, G. Povysil, D.-A. Clevert. 1484W Evaluation of different phasing and imputation strategies in an isolated population with a mixture of unrelated individuals and extended pedigrees. J. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

173 POSTER SESSIONS 171 O Connell, O. Delaneau, N. Pirastu, S. Ulivi, P. Gasparini, J. Marchini. 1485T Local ancestry inference using identity by descent. Z. Cai, B. L. Browning, S. R. Browning. 1486F Detection of identity by descent based on rare variants. G. Povysil, G. Klambauer, S. Hochreiter. 1487W Refined IBD: A new method for detecting identity by descent in population samples. B. L. Browning, S. R. Browning. 1488T IBD estimation with whole-genome sequence data. L. Han, M. Abney. 1489F Evaluating type 1 error and power for association and linkage in large complex pedigrees. A. C. Cummings, E. Torstenson, M. F. Davis, L. N. D Aoust, W. K. Scott, M. A. Pericak-Vance, W. S. Bush, J. L. Haines. 1490W Loss-of-co-homozygosity mapping: a novel non-parametric linkage analysis leveraging exome sequencing data. Y. Okada, N. Gupta, D. Mirel, S. Gabriel, T. Arayssi, F. Mouassess, W. A. L. Achkar, L. A. Kazkaz, R. M. Plenge. 1491T Patterns of indel variation: Comparison of calling methods and LD with SNPs. K. Huang, M. Ehm, N. Bing, Y. Liu, J. Xu, A. Slater, D. Fraser, J. Novembre, J. Li, M. Neison, Y. Li. 1492F Estimating disease associations with common, low-risk alleles using pedigree data: Applications to breast cancer. D. R. Barnes, D. Barrowdale, J. Hopper, D. Goldgar, G. Chenevix-Trench, A. C. Antoniou, G. Mitchell, kconfab Investigators, AOCS Group. 1493W Improving association tests by learning mode of inheritance from parental data. Z. Yu, D. Gillen, C. Li, M. Demetriou. 1494T Enhanced maternal origin of the 22q11.2 deletion in velo-cardio-facial/digeorge syndrome. M. Delio, T. Guo, D. McDonald-McGinn, E. Zackai, S. Herman, A. Higgins, K. Coleman, T. Wang, A. Auton, R. Shprintzen, B. Emanuael, B. Morrow. 1495F Connection between heritability and polygenic risk score: Implications for the genetic architecture of complex traits. V. V. Trubetskoy, E. R. Gamazon, M. E. Dolan, N. J. Cox, H. K. Im. 1498F Genetic pathways for ADHD show association to hyperactive/impulsive symptoms. A. Arias Vásquez, J. Bralten, B. Franke, I. Waldan, S. Faraone, J. Buitelaar. 1499W Graphical models and intervention calculus for causal inference of genetic epidemiology studies. P. Wang, L. Jin, M. Xiong. 1500T Multi-SNP analysis of GWAS reveals important gene-gene interactions and gene networks implicated in breast cancer. L. Briollais, A. Dobra, H. Massam, H. Ozcelik. 1501F Connecting genome-wide association studies with a biological gene interaction network to uncover epistasis. D. S. Himmelstein, J. S. Witte, O. G. Troyanskaya, C. S. Greene. 1502W Gene-based collapsing methods may not be powerful for pathway-based association analysis for exome sequencing data. G. Wu, D. Zhi. 1503T Gene function prediction based on 80,000 expression samples identifies downstream effects of many trait-associated SNPs in an eqtl dataset of 5,311 samples. J. Karjalainen, H. Westra, R. S. N. Fehrmann, T. Esko, M. J. Peters, E. M. Festen, G. J. te Meerman, S. B. Felix, H. Yaghootkar, J. Kettunen, M. W. Christiansen, A. Hofman, F. Rivadeneira, E. Reinmaa, R. C. Jansen, J. Brody, S. A. Gharib, A. Suchy-Dicey, D. Enquobahrie, A. G. Uitterlinden, C. Wijmenga, B. M. Psaty, S. Ripatti, T. Frayling, A. Teumer, A. Metsepalu, J. B. J. van Meurs, L. Franke. 1504F Constructing biological network using RNA-seq data. Y. Choi, M. Coram, H. Tang. 1505W Network inference, integrative dynamic omics and personalized medicine. G. I. Mias, H. Im, E. Mitsunaga, R. Chen., J. Li-Pook-Than, L. Jiang, M. Snyder. 1506T Stress-induced changes in gene interactions in human cells. R. Nayak, M. Kearns, V. G. Cheung. 1507F An exploration of the use of low coverage whole genome sequencing datasets as additional controls for exome sequenced case series. D. Gurdasani, M. S. Sandhu, P. Kellam, P. J. Openshaw, J. K. Baillie, MOSAIC and GenISIS Investigators. 1508W Genome profile-based disease risk prediction. P. Hu, E. Boerwinkle, L. Jin, M. Xiong. POSTER SESSIONS 1496W Genetic variants in DNA repair pathway genes and upper aerodigestive tract cancers: Combined analysis of data from genome-wide association studies. M.-C. Babron, R. Kazma, V. Gaborieau, J. D. McKay, P. Brennan, A. Sarasin, S. Benhamou, INHANCE Consortium. 1497T Venous thromboembolism-susceptibility pathways by gene set analyses. J. Heit, S. M. Armasu, J. P. Sinnwell, D. J. Schaid, M. de Andrade. 1509T Whole genome sequencing-based imputation: A comparison between the 1000 Genomes data and the UK10K sequencing data. J. Huang. 1510F EPACTS : A flexible and efficient sequencebased genetic analysis software package. H. M. Kang, X. Zhan, X. Sim, C. Ma. 1511W A Monte Carlo procedure for assessing cooccurring and anti-co-occurring gene mutations in cancer genome sequencing studies. P. Liu, X. Hua, H. Xu, Y. Lu. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

174 172 POSTER SESSIONS 1512T Using whole exome sequencing to identify rare causal variants for oral clefts in multiplex families. T. H. Beaty, I. Ruczinski, M. M. Parker, J. B. Hetmanski, P. Duggal, M. A. Taub, S. Szymczak, Q. Li, C. Cropp, H. Ling, E. W. Pugh, Y. H. Wu-Chou, J. E. Bailey-Wilson, M. L. Marazita, J. C. Murray, E. Mangold, M. M. Noethen, K. Ludwig, A. F. Scott. 1513F Analyzing deep whole genome sequence and genotype data of.1,000 individuals from large Mexican-American pedigrees in the T2D-GENES study. G. Jun, M. Almeida, P. Cingolani, A. Wood, C. Fuchsberger, T. M. Teslovich, T. Dyer, M. Rivas, K. Gaulton, J. Maller, J. Curran, J. Grunstad, T. Blackwell, D. Lehman, R. Grossman, S. Lincoln, J. Laramie, M. Boehnke, M. McCarthy, T. Frayling, R. Sladek, R. Duggirala, J. Blangero, G. Abecasis. 1514W A flexible and effective Poisson mixed model framework for RNA sequencing and other count data. X. Zhou, J. Tung, Y. Gilad, S. Mukherjee, M. Stephens. 1515T Sequence-based analysis identifies variants associated with serum lipids in African Americans. A. Bentley, D. Shriner, A. Doumatey, J. Zhou, H. Huang, J. Mullikin, R. Blakesley, N. Hansen, G. Bouffard, P. Cherukuri, B. Maskeri, A. Young, A. Adeyemo, C. Rotimi. 1516F Genetic factors associated with levels of immune cell types. M. Steri, V. Orrù, E. Fiorillo, G. Sole, C. Sidore, F. Virdis, M. Dei, S. Lai, A. Mulas, M. G. Piras, M. Lobina, M. Marongiu, M. Zoledziewska, M. Congia, F. Busonero, A. Maschio, M. F. Urru, M. Marcelli, R. Atzeni, D. Firinu, M. Valentini, W. Mentzen, S. Naitza, M. B. Whalen, A. Angius, C. M. Jones, D. Schlessinger, G. Abecasis, S. Sanna, F. Cucca. 1517W Characterization of rare variants in melanomaassociated genes in melanoma-prone families without CDKN2A/CDK4 mutations using exome sequencing data. R. Yang, K. Jacobs, M. Cullen, J. Boland, L. Burdett, M. Malasky, M. Rotunno, M. Yeager, S. Chanock, M. Tucker, A. Goldstein. 1518T Comparison of variant calling strategies for large-scale exome sequencing projects. J. Floyd, A. Hendricks, L. Crooks, K. Walter, S. McCarthy, C. Anderson, UK10K Consortium. 1519F A catalogue of structural variants identified in disease-based whole genome sequencing. A. Kumar, R. D. Pearson, R. E. Handsaker, K. J. Gaulton, S. A. McCarroll, M. I. McCarthy, GoT2D Consortium. 1520W On the analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. L. Liu, E. Boerwinkle, J. Buxbaum, E. Cook, Jr., B. Devlin, G. Schellenberg, J. Sutcliffe, M. Daly, R. Gibbs, K. Roeder, ARRA Autism Sequencing Consortium. 1521T Resolving dependence between overlapping reads in next-generation sequencing data. Y. Lo, G. Abecasis, S. Zöllner. 1522F Single point and rare variant analysis by whole genome sequencing in 4,000 samples in the UK10K cohorts project. J. L. Min, UK10K Consortium Cohorts Group. 1523W A statistical framework for the evaluation of de novo variation in psychiatric disease. K. E. Samocha, B. M. Neale, M. J. Daly, ARRA Autism Sequencing Consortium. 1524T Efficient two-stage analysis approach for complex trait association with arbitrary depth sequencing data. S. Yan, Y. Li. 1525F Improving the accuracy and efficiency of sequencing experiments, by using previously sequenced genomes. X. Zhan, H. M. Kang, G. Abecasis. 1526W Estimating and testing genetic effects for complex traits in sequence-based association studies and power comparisons. J. Zhou, N. Laird. 1527T A unified statistical framework to correct for unknown population stratification, family structure and cryptic relatedness in the sequence-based association studies. Y. Zhu, J. Zhao, Y. Shugart, M. Xiong. 1528F Genome-wide association study of primary tooth eruption identifies pleiotropic loci association with craniofacial distances. G. Fatemifar, C. Hoggart, L. Paternoster, J. P. Kemp, I. Prokopenko, M. Horikoshi, J. H. Tobias, S. Richmond, F. Geller, B. Feenstra, M. Melbye, T. Sørensen, A. Zhurov, A. M. Toma, S. Ring, B. S. Pourcain, N. J. Timpson, G. D. Smith, M. R. Jarvelin, D. M. Evans. 1529W General framework for meta-analysis for sequencing association studies. S. Lee, X. Lin. 1530T General class of family-based association tests for sequence data, and comparisons with populationbased association tests. I. Ionita-Laza, S. Lee, V. Makarov, J. D. Buxbaum, X. Lin. 1531F A novel statistical approach to prioritize variants from deeply sequenced NGS samples using publicly available sequence controls. L. J. Strug, A. Derkach, T. Chiang, L. Addis, S. Dobbins, I. Tomlinson, R. Houlston, D. K. Pal. 1532W Variable selection based weighting schemes for implicating rare variants in sequence data. A. E. Byrnes, M. Li, M. C. Wu, F. A. Wright, Y. Li. 1533T Accurate local ancestry inference in exome sequence samples. Y. Hu, G. Abecasis, H. Kang. 1534F Internal reference panel selection methods for genotype imputation: A novel sequencing study design strategy for genotyped samples. P. Zhang, N. A. Rosenberg, S. Zöllner. 1535W Statistical methods for inference in population genetic studies with uncertain genotype data. E. Han. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

175 POSTER SESSIONS T On association analysis of rare variants under population-substructure: An approach for the detection of subjects that can cause bias in the analysis. D. Qiao, M. Mattheisen, C. Lange. 1537F Identity-by-descent analysis of sequence data. S. M. Smith, S. R. Browning, B. L. Browning. 1538W Robust similarity regression for population substructure in rare variant aggregation analyses. J. Tzeng, C. Smith. 1539T Detecting differential expression in splice variants in the absence of annotated isoforms using RNAseq. N. J. I. Lewin-Koh, T. Bhangale, M. Huntley, J. Kaminker, F. Cai, M. van der Brug. 1551T JBASE: A Bayesian mixture model for joint analysis of sub-phenotypes and epistasis. R. Colak, T. Kim, H. Kazan, P. M. Kim, A. Goldenberg. 1552F IMProve: An R package for parallelizing 1000 Genomes based genotype imputation, statistical analyses, and extraction of independent hit loci. T. A. Johnson, Y. Nakamura, M. Kubo, T. Tsunoda. 1553W An automatic toolbox for genome-wide association analyses. J. Luan, S. J. Sharp, N. J. Wareham, J. H. Zhao. 1554T Variant association tool: A pipeline to perform quality control and association analysis of sequence and exome chip data. G. Wang, B. Peng, S. M. Leal. POSTER SESSIONS 1540F Identification of new genetics variants for T2D in WTCCC data using genome-wide interaction analysis followed by core SNP and gene determination. Z.-X. Zhu, Z.-H. Zhu, X. Tong, M. Liang, W.-C. Cui, M. Yang, L. Zhou, M. D. Li, J. Zhu. 1541W Imputing genotypes in large pedigrees: A comparison between GIGI and BEAGLE. C. Y. K. Cheung, E. Wijsman. 1542T A hidden Markov model for coalescent-based mapping of complex trait loci from sequencing data in large-scale case-control studies. Z. Geng, P. Scheet, S. Zoellner. 1543F Genetic Simulation Resources: A website for the registration and discovery of genetic data simulators. B. Peng, B. Racine, H. Chen, L. Mechanic, L. Clarke, E. Gillanders, E. Feuer. 1544W Rare-variant tests in stratified populations. M. Schmidt, D. Kinnamon, E. Martin. 1545T Software pipeline to detect SNPs and call their genotypes. M. Trost, H. M. Kang, G. Jun, G. R. Abecasis. 1546F Bidimensional scale analysis: A novel approach to genographic analysis. Q. Huang, Y. Wu, Z. Li, X. Liu, W. Xie. 1547W Genotype probability distributions on complex pedigrees, with applications to relationship testing. M. Vigeland, T. Egeland. 1548T Trait specific genetic relatedness matrices for heritability estimates using linear mixed models. J. Mefford, J. Witte. 1549F The confounding effect of cryptic relatedness on cohort studies for environmental risks. K. Shibata, G. Tamiya, M. Ueki, T. Nakamura, H. Narimatsu, I. Kubota, Y. Ueno, T. Kato, H. Yamashita, A. Fukao, T. Kayama, Yamagata University Genomic Cohort Consortium. 1550W Genome wide mutation-rate map for the analysis of recurrent de novo mutations. P. Polak, S. R. Sunyaev. 1555F MaCH-Admix: Genotype imputation for admixed populations. E. Y. Liu, M. Li, W. Wang, Y. Li. 1556W Two roads both taken: Walking the phenotypic and genotypic paths to disease gene implication. A. Javed, P. Ng. 1557T Inferring highly polymorphic gene alleles using sequence data and SNP genotypes in the Han Chinese population. S. Chang, C. Fann, A. Hsieh, C. Shiu. 1558F The design of custom-made genotyping arrays to study asthma in populations of African descent. J. Gao, Y. Hu, J. S. Lee, N. Pearson, G. Abecasis, I. Ruczinski, T. H. Beaty, Z. Qin, R. A. Mathias, K. C. Barnes. 1559W Detecting rare variants for both quantitative and qualitative traits using pedigree data. W. Guo, Y. Y. Shugart. 1560T IsoDOT detects differential RNA-isoform usage between two or more samples with high sensitivity and specificity. W. Sun. 1561F Identification of loss of heterozygosity from unpaired tumor samples using next-generation sequencing. J. Lee, N. Pearson. 1562W A robust and well-defined method for single nucleotide variant and indel detection. N. Tuzov. 1563T DETECTANCE: Graphical software for study design and planning, based on evaluation of the detectance distributions for probands conditional on the phenotypes of relatives. T. Hiekkalinna, P. Norrgrann, J. H. Lee, K. M. Weiss, M. Perola, J. D. Terwilliger. 1564F Genetic instrumental variable studies of the effects of maternal risk factors on oral clefts. G. L. Wehby, L. M. Moreno, P. Romitti, K. Christensen, L. DeRoo, A. Wilcox, R. Munger, R. Lie, J. C. Murray. 1565W The prevalence of X-linked hypohidrotic ectodermal dysplasia in Denmark. M. Nguyen-Nielsen, S. Skovbo, D. Svaneby, L. Pedersen, J. Fryzek. 1566T The PhenX Toolkit: Standard measures facilitate W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

176 174 POSTER SESSIONS cross-study analyses. C. M. Hamilton, W. Huggins, H. Pan, D. B. Hancock, J. G. Pratt, J. A. Hammond, T. Hendershot, D. R. Maiese, K. A. Tryka, K. Sher, K. Conway, M. Scott, W. R. Harlan, J. Haines, L. C. Strader, H. A. Junkins, E. M. Ramos. 1567F Comparison of genome-wide association studies for smoking behavior between self-reported and biomarker measures. A. I. Stiby, N. Timpson, M. Hickman, D. Evans, J. Kemp, G. Davey Smith, S. Ring, B. St. Pourcain, J. Henderson, J. Macleod. 1568W Design of sequencing studies in family samples, with application to the study of substance use disorders. S. Feng, S. Vrieze, B. Tarrier, J. Bragg- Gresham, X. Zhan, C. Sidore, M. McGue, W. Iacono, G. Abecasis. 1569T Family-based designs for sequencing studies. D. Thomas. 1570F From a large-scale discovery study to a replication study. C. Kuo, D. Zaykin. 1571W Optimal sample selection for large-scale next-generation sequencing experiments. G. W. Beecham, R. Rajbhandary, E. R. Martin, L. S. Wang, K. Lunetta, R. Mayeux, J. L. Haines, L. Farrer, M. Pericak- Vance, G. Schellenberg, Alzheimer s Disease Genetics Consortium. 1572T Meta-analysis of ITGAM coding variant, rs (R77H) in systemic lupus erythematosus cases and controls. X. Kim-Howard, V. Pradhan, K. H. Chua, A. Maiti, K. Ghosh, S. Nath. 1573F Understanding missing data in a large STR dataset of over 100,000 Brazilian individuals genotyped with PowerPlex 16 kit. V. R. C. Aguiar, R. V. Rohlfs, K. E. Lohmueller, A. M. Castro, F. S. V. Malta, A. C. S. Ferreira, I. D. Louro, R. Nielsen. 1574W Population based study of permanent teeth agenesis in Japanese schoolchildren. J. Machida, T. Nishiyama, M. Kamamoto, S. Yamaguchi, M. Kimura, A. Shibata, K. Yamamoto, S. Makino, H. Miyachi, K. Shimozato, Y. Tokita. 1575T Are heritability estimates of binary traits meaningful? P. H. Benchek, N. J. Morris. 1576F Genetic ancestry and mammographic density among U.S. Caucasians. J. L. Caswell, K. Kerlikowske, J. Shepherd, S. R. Cummings, D. Hu, S. Huntsman, E. Ziv. 1577W Robust partitioning of local heritability at associated GWAS loci. A. Gusev, G. Bhatia, B. Pasaniuc, N. Zaitlen, A. L. Price. 1578T Multiple mediation analysis in case-control studies: Application to detecting joint mediating effects of smoking and chronic obstructive pulmonary disease on the association between CHRNA5-A3 genetic locus and lung cancer risk. J. Wang, S. Shete. 1579F Bayesian-optimized linkage disequilibrium improves gene-based association tests. H. Huang, S. Zahid, P. Chanda, D. E. Arking, J. S. Bader. 1580W Statistical models and inference methods for the in vivo DNA methylation process. A. Q. Fu, D. P. Genereux, R. Stoeger, A. F. Burden, C. D. Laird, M. Stephens. 1581T A comparison of statistical methods for the analysis of methylome data. M. LeBlanc, B. Kulle. 1582F Designing GWAS arrays for efficient imputationbased coverage. Y. Zhan, Y. Lu, T. Webster, J. Schmidt. 1583W Does a higher BMI directly influence levels of physical activity in children? Mendelian randomization using genotypic scores. R. C. Richmond, G. Davey Smith, D. M. Evans, B. St. Pourcain, J. P. Kemp, A. R. Ness, S. M. Ring, K. Tilling, N. J. Timpson. Cardiovascular Genetics 1584T Role of GATA5, FBN1 and TGFBR2 mutation in patients with bicuspid aortic valve. N. Abdulkareem, J. A. Aragon-Martin, G. Arno, V. Ramachandran, A. Child, M. Jahangiri. 1585T Re-sequencing of 3699 individuals reveals novel low-frequency missense polymorphism in SCN10A associated with PR interval that alters channel activation. J. Brody, V. S. Macri, D. E. Arking, X. Yin, C. Liu, A. C. Morrison, A. Alonso, J. C. Bis, S. R. Heckbert, T. Lumley, C. Sitlani, L. A. Cupples, S. Pulit, C. Newton- Cheh, C. J. O Donnell, E. J. Benjamin, D. Muzny, R. Gibbs, R. Jackson, J. W. Magnani, S. S. Rich, B. M. Psaty, E. Boerwinkle, P. T. Ellinor, N. Sotoodehnia, Cohorts for Heart and Aging Research in Genetic Epidemiology, NHLBI Exome Sequencing Project. 1586T A functional SNP at APLN gene confers a risk to arterial stiffness in Chinese women. Y. C. Liao, S. W. Huang, Y. S. Wang, K. C. Chen, S. H. H. Juo. 1587T Impact of inflammatory gene polymorphisms on left ventricular dysfunction in coronary artery disease patients. A. Mishra, A. Srivastava, T. Mittal, N. Garg, B. Mittal. 1588T Identification of a new chromosomal locus for a mutation causing left ventricular non-compaction with ventricular tachycardia cardiopathology. E. Muhammad, A. Levitas, V. Sheffield, R. Parvari. 1589T Sequencing candidate genes associated with conotruncal heart defects. K. Osoegawa, M. Ladner, K. Schultz, C. Parodi, N. Mohammed, D. Noonan, G. Shaw, E. Trachtenberg, E. Lammer. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

177 POSTER SESSIONS T Significant association of two genetic variants in the ENPEP gene with lone atrial fibrillation in Koreans. D. Shin, H. Hwang, A. Park, N. Son, E. Shin, J. Lee, H. Pak, M. Lee, Y. Jang. 1591T Molecular Investigation in sudden unexplained death syndromes in New York City. Y. Tang, D. Wang, L. Eng, K. Shah, S. Um, B. Zhou, M. Prinz, B. Sampson. 1592T Associations of NINJ2 sequence variation with incident ischemic stroke: Analysis of common and rare variants in the Cohorts for Heart and Aging in Genomic Epidemiology Consortium. J. C. Bis, M. Fornage, A. L. DeStefano, J. Brody, M. A. Ikram, C. van Duijn, R. Gibbs, J. G. Reid, E. Boerwinkle, W. T. Longstreth, T. H. Mosley, S. Seshadri on behalf of CHARGE Neurology Working Group. 1593T CCR5, TNF/LTA, CCL2, IL12B, IL10, MAL/TIRAP, ACTC1 genes are associated to the development of chronic Chagas disease cardiomyopathy. C. Chevillard, A. F. Frade, P. Teixeira, B. Ianni, C. Wide Pissetti, A. Fragata, M. Hirata, M. Sampaio, B. Saba, F. Dias, E. Donadi, V. Rodrigues Jr., A. Pereira, J. Kalil, E. Cunha- Neto. 1600T CNVs contributing to the cause of congenital heart defects may include not only those containing candidate genes but regions more commonly associated with autism and other disorders. D. Warburton, M. Ronemus, J. Kline, M. Wigler, V. Jobanputra, D. Levy, K. Anyane-Yeboa, W. Chung, D. Awad. 1601T Whole exome sequencing and hypertrophic cardiomyopathy. F. Dewey, S. Cordero, M. Wheeler, A. Pavlovic, K. Bommakanti, S. Pan, C. Caleshu, R. Chen, M. Snyder, E. Ashley. 1602T Fine mapping the SCN10A gene region identifies novel associations with PR interval in African Americans from an electronic medical record population. J. Jeff, M. Ritchie, J. Denny, H. Dilks, C. Sutcliffe, M. Basford, D. Roden, D. Crawford. 1603T Association between 4q25 variants and cardioembolic stroke in the Vienna Stroke Registry. M. M. Luke, C. H. Tong, J. J. Catanese, J. J. Devlin, S. Greisenegger, C. Mannhalter. POSTER SESSIONS 1594T Analysis of candidate genes associated with intermediate traits identifies novel variants associated with coronary artery disease presence and severity. D. M. Craig, E. R. Hauser, E. Burns, M. Chryst-Ladd, C. Haynes, W. E. Kraus, I. C. Siegler, B. H. Brummett, R. C. Becker, R. B. Williams, S. H. Shah. 1595T The shared allelic architecture of adiponectin levels and coronary artery disease. Z. Dastani, T. Johnson, F. Kronenberg, C. Nelson, T. L. Assimes, W. März, J. B. Richards, CARDIoGRAM Consortium, ADIPOGen Consortium. 1596T Investigation of mutations in exons 19 and 22 MYH7 gene in HCM patients in Chaharmahal va Bakhtiyari Province, Iran. S. Heydari Sodjani, R. Pourahmad, A. Khaledifar, M. Hashemzadeh, F. Azadegan, N. Bagheri, S. Badfar. 1597T Polymorphisms in CHRNA3-CHRNA5-CHRNB4 are associated with body mass index and systolic blood pressure in smokers in the Northern Finland Birth Cohort M. Kaakinen, F. Ducci, M. J. Sillanpää, E. Läärä, M.-R. Järvelin. 1598T Genetic association studies of left ventricle dysfunction in coronary artery disease patients. B. Mittal, A. Mishra, A. Srivastava, T. Mittal, N. Garg. 1599T Associations of sequenced regions SLC17A4 and PIK3CG with common carotid intima-media thickness and plaque: A common and rare variant meta-analysis in the Cohorts for Heart and Aging in Genomic Epidemiology Consortium. C. J. O Donnell, C. C. White, N. Franceschini, J. Brody, D. Muzny, R. Gibbs, E. Boerwinkle, B. Psaty, K. E. North, L. A. Cupples, J. C. Bis on behalf of CHARGE Subclinical Atherosclerosis Working Group. 1604T Common genetic variants do not predict CAD in familial hypercholesterolemia. E. P. A. van Iperen, S. Sivapalaratnam, S. M. Boekholdt, G. K. Hovingh, S. Maiwald, M. W. Tanck, N. Soranzo, J. C. Stephens, J. G. Sambrook, M. Levi, W. H. Ouwehand, J. J. P. Kastelein, M. D. Trip, A. H. Zwinderman. 1605T Genetic sources of variation in proprotein convertase subtilisin/kexin type 9, a protein that mediates degradation of LDL receptors and increases LDL levels. E. A. Rosenthal, R. Rajagopalan, J. Ranchalis, D. Szeto, K. Akinsanya, T. P. Roddy, J. M. Castro-Perez, G. Forrest, G. Wolfbauer, J. J. Albers, J. D. Brunzell, A. G. Motulsky, M. J. Rieder, D. A. Nickerson, E. M. Wijsman, G. P. Jarvik. 1606T Twenty-three unreported genetic associations with lipid phenotypes: A dense gene-centric metaanalysis in 66,240 individuals across 32 studies. Y. Guo, F. W. Asselbergs, E. P. A. van Iperen, S. Sivapalaratnam, V. Tragante, C. Elbers, H. Hakonarson, B. J. Keating, F. Drenos, IBC-Lipids Consortium. 1607T After LDLR, APOB and PCSK9, APOE is another major gene of autosomal dominant hypercholesterolemia. M. Varret, M. Marduel, K. Ouguerram, V. Serre, D. Bonnefont-Rousselot, K. E. Berge, M. Devillers, G. Luc, J.-M. Lecerf, L. Tosolini, M. Abifadel, T. P. Leren, J.-P. Rabès, C. Boileau. 1608T Trans-ethnic fine-mapping of lipid loci in African Americans, East Asians, and Europeans identifies population-specific signals and extensive allelic heterogeneity that increases the trait variance explained. Y. Wu, L. Waite, A. Jackson, S. Buyske, C. Carty, I. Cheng, D. Duggan, L. Dumitrescu, C. Haiman, L. Hindorff, C. Hsiung, S. Hunt, K. Hveem, J. Juang, E. Kim, M. Laakso, I. Njølstad, U. Peters, R. Rauramaa, W. Sheu, Y. Sung, J. Tuomilehto, T. Wang, Y. Chen, C. Kooperberg, W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

178 176 POSTER SESSIONS M. Boehnke, D. Crawford, T. Assimes, K. North, K. L. Mohlke. 1609T Identification of a major genetic modifier in mouse models of TGFb vasculopathies. J. Calderon, H. Dietz. 1610T Upregulation of Twist1 expression during acute myocardial infarction. J. B. Nevado. 1611T Venous malformation-causing TIE2-mutations lead to AKT-mediated downregulation of PDGFB. M. Uebelhoer, M. Nätynki, J. Kangas, J. Soblet, A. Mendola, C. Godfraind, L. M. Boon, L. Eklund, N. Limaye, M. Vikkula. 1612T Islet1 is a direct transcriptional target of the homeodomain transcription factor Shox2 in the sinoatrial node of the developing heart. G. A. Rappold, I. M. Berger, A. Glaser, C. Bacon, L. Li, K. U. Schneider, N. Gretz, H. Steinbeisser, W. Rottbauer, S. Just, S. Hoffmann. 1613T Analysis of sub-category for 141 cases of congenital heat disease that have been surgically corrected during neonatal period. Q.-Y. Cao, J.-Z. Zhu, N. Zhong. 1614T Analysis of cardiomyopathy using whole genome sequencing. E. M. McNally, J. R. Golbus, L. L. Pesce, D. Wolfgeher, L. Dellefave-Castillo, M. J. Puckelwartz. 1615T The association between NOS3 gene variations and Brugada syndrome. S. Mehrtashfar, A. Ebrahimi, M. Moghadam, A. S. Khatir. 1616T Targeted sequence capture and 454 sequencing of 23 cardiomyopathy genes: Implementation into diagnostics. O. Mook, M. Haagmans, R. Lekanne dit Deprez, F. Baas, M. Jakobs, N. Hofman, I. Christiaans, M. Mannens. 1617T Targeted next-generation sequencing of thoracic aortic aneurysmal genes. L. Van Laer, D. Proost, G. Vandeweyer, J. Saenen, B. Paelinck, C. Vrints, B. Loeys. 1618T The use of next-generation sequencing in clinical diagnostics of familial hypercholesterolaemia. J. Vandrovcova, E. Thomas, S. Atanur, P. Norsworthy, C. Neuwirth, Y. Tan, L. Game, A. Soutar, T. J. Aitman, Generation Scotland. 1619T Targeted next-generation sequencing as a diagnostic test in patients with cardiomyopathies. Y. J. Vos, B. Sikkema-Raddatz, L. F. Johansson, E. N. de Boer, L. G. Boven, K. Y. van Spaendonck-Zwarts, M. P. van den Berg, J. P. van Tintelen, J. D. H. Jongbloed, R. J. Sinke. 1620T Population sampling and in vitro modeling of a 25bp deletion in MYBPC3 associated with hypertrophic cardiomyopathy. A. B. Chowdry, M. A. Mandegar, G. M. Benton, B. T. Naughton, B. R. Conklin. 1621T Co-localization of lipid biomarker associations with gene expression across human tissues. C. Giambartolomei, H.-J. Westra, M. Kivimaki, M. Kumari, E. Schadt, L. Franke, A. Hingorani, V. Plagnol. 1622T Silencing of Atp2b1 increases blood pressure through vasoconstriction. B. Oh, Y.-B. Shin, S.-M. Ji, S.-Y. Park, H.-J. Lee, K.-W. Hong, J.-E. Lim, M. Lim, Y.-H. Lee. 1623T Metabolic imprints of genetically elevated body mass index in young adults. P. Würtz, A. J. Kangas, P. Soininen, O. Raitakari, T. Lehtimäki, M. R. Järvelin, M. Ala- Korpela, S. Ripatti. 1624T Mendelian randomization studies do not support a causal effect of plasma lipids on insulin sensitivity. T. Fall, W. Xie, K. Hao, J. Ärnlöv, F. Abbasi, E. E. Schadt, G. Boran, T. Hansen, D. Greenawalt, J. J. Nolan, O. Pedersen, H. Häring, E. Ferrannini, A.-C. Syvänen, T. Quertermous, U. Smith, T. L. Assimes, M. Laakso, M. Walker, J. W. Knowles, M. N. Weedon, E. Ingelsson, T. M. Frayling on behalf of GENESIS Consortium. 1625T Dissecting the genetic architecture of coronary artery disease by genome engineering. D. J. Segal, M. S. Bhakta, K. ThevaDas, C. Sun, N. M. Grace, J. A. Nolta, A. A. Knowlton, D. M. Rocke. 1626T Application of Mendelian randomization on ascorbic acid and hypertension in.11,000 participants from 4 independent studies. K. H. Wade, N. J. Timpson, N. G. Forouhi, M.-J. Brion, R. M. Harbord, D. G. Cook, P. Johnson, A. McConnachie, R. W. Morris, S. Rodriguez, Z. Ye, S. Ebrahim, S. Padmanabhan, G. Watt, K. R. Bruckdorfer, N. J. Wareham, P. H. Whincup, S. Chanock, N. Sattar, D. A. Lawlor, G. Davey Smith. 1627T Identification of a regulatory variant that binds C/EBPb at the GALNT2 human high-density lipoprotein cholesterol locus. T. S. Roman, M. P. Fogarty, S. Vadlamudi, A. F. Marvelle, K. J. Gaulton, A. J. Gonzalez, Y. Li, K. L. Mohlke. 1628T Maternally transmitted coronary heart disease is associated with the mitochondrial trnathr 15927G.A mutation. M. X. Guan. 1629T Mitochondrial haplogroups and genomic ancestry showed association with heart failure in Brazilians. C. Fridman, M. M. S. G. Cardena, A. K. Ribeiro-dos-Santos, S. E. Santos, J. E. Krieger, A. C. Pereira. 1630T RNAi-based functional profiling of loci from blood lipid genome-wide association studies. H. Runz, P. Blattmann, C. Schuberth, R. Pepperkok. 1631T A fine mapping of the genetic variation influencing the ratio of alternatively spliced CD40 transcripts and conferring susceptibility to Kawasaki disease. Y. Onouchi, K. Ozaki, M. Terai, H. Hamada, H. Suzuki, T. Suenaga, Y. Suzuki, K. Yasukawa, R. Ebata, T. Saji, Y. Kemmotsu, K. Ouchi, F. Kishi, T. Yoshikawa, T. Nagai, K. Hamamoto, Y. Sato, K. Sasago, A. Takahashi, M. Kubo, T. Tsunoda, A. Hata, Y. Nakamura, T. Tanaka. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

179 POSTER SESSIONS T The AA genotype of tumor necrosis factor induced protein 2 rs8126 polymorphism is associated with increased mortality in septic shock. S. A. Thair, J. H. Boyd, T. A. Nakada, J. A. Russell, K. R. Walley. 1633T Significance of the NODAL p.h165r variant in complex cardiovascular malformations: A report of two lethal cases with an asymptomatic parent. Z. Ammous, A. Rajadhyaksha, P. Jayakar. 1634T Parent of origin effect in HDL levels. J. S. Lilley, I. M. Predazzi, W. S. Bush, M. F. Linton, S. M. Williams, S. Fazio. 1635T Loci on chromosomes 2q12, 6p21 and 13q14 modulate the effect of smoking on carotid intimamedia thickness in whites, blacks and Hispanics. C. Dong, L. Wang, A. Beecham, D. Cabral, C. B. Wright, S. H. Blanton, T. Rundek, H. Zhao, R. L. Sacco. 1636T A genome-wide gene-by-environment scan for mobile source air pollution in atherosclerosis and myocardial infarction identifies PIGR and HCN4. C. K. Ward-Caviness, L. Neas, C. Haynes, C. Blach, E. Burns, K. LaRocque-Abramson, E. Dowdy, W. Cascio, R. Devlin, D. Diaz-Sanchez, W. E. Kraus, S. H. Shah, S. G. Gregory, M. L. Miranda, E. R. Hauser. 1637T Genome-wide association analysis of blood pressure incorporating gene-age interactions in the CHARGE, GBPgen, and ICBP Consortia. J. Simino, CHARGE, GBPgen, and ICBP Investigators. 1638T A genome-wide association study of carotid intima-medial thickness, a preclinical marker of atherosclerosis. S. H. Blanton, A. H. Beecham, L. Wang, C. Dong, D. Cabral, B. I. Hudson, M. Kiryiya, F. Jasmine, B. Pierce, R. Demmer, A. Habibul, M. Desvarieux, R. Sacco, T. Rundek. 1639T Genome-wide association analyses of long-term blood pressure traits. S. K. Ganesh, G. B. Ehret, A. Chakravarti on behalf of CHARGE-BP and ICBP Consortia. 1640T A genome-wide association study in a Lebanese population identifies three new loci for coronary artery disease. M. Ghassibe, J. Hager, J. B. Cazier, D. Platt, Y. Kamatani, M. Farrall, D. Gauguier, P. Zalloua. 1641T An assessment of association of blood pressure with DNA variants in the Long Life Family Study and other studies. A. T. Kraja, J. H. Lee, R. Straka, I. B. Borecki, C. Kammerer, M. A. Province. 1642T Novel tissue-specific transcriptomic signatures revealed by experimental endotoxemia in healthy human subjects. Y. Liu, J. Feguson, I. Silverman, B. Gregory, M. Li, M. Reilly. 1643T Genome-wide association study for atrial fibrillation in the Japanese population. K. Ozaki, Y. Onouchi, N. Kamatani, T. Tsunoda, M. Kubo, Y. Nakamura, T. Tanaka. 1644T Cardiovascular genetics. D. Seo, Z. Liu, N. Sikka, P. Goldschmidt-Clermont, M. A. Pericak-Vance, G. W. Beecham. 1645T Functional relationship of the COL4A1/COL4A2 locus on chromosome 13q34 to coronary artery disease. A. Turner, P. Lau, S. Soubeyrand, O. Jarinova, R. McPherson. 1646T De novo copy number variants in non-syndromic left ventricular outflow tract obstruction. L. A. Umana, N. A. Hanchard, G. A. Zender, S. M. Fitzgerald-Butt, G. Zapata, P. Hernandez, M. S. Azamian, D. J. Penny, J. W. Belmont, K. L. McBride. 1647T Genetic association of CVD-related loci with lipid traits in the Heart Strategies Concentrating on Risk Evaluation (Heart SCORE) Study. X. B. Wang, S. Reis, M. M. Barmada, I. Halder, F. Y. Demirci, M. I. Kamboh. 1648T Genetic analysis of vascular disease in the Diabetes Heart Study. A. J. Cox, M. C. Y. Ng, J. Xu, C. D. Langefeld, J. J. Carr, B. I. Freedman, D. W. Bowden. 1649T SNPs associated with plasma triglyceride levels influence response during intensive cardiovascular risk reduction. D. L. Ellsworth, A. Decewicz, M. Hicks, K. A. Mamula, A. Burke, M. J. Haberkorn, H. L. Patney, M. N. Vernalis. 1650T Sex-specific association of cadherin with high density-lipoprotein cholesterol in the Long Life Family Study. M. F. Feitosa, A. T. Kraja, J. Lee, K. Christensen, J. Wang, C. Kammerer, M. A. Province, I. B. Borecki. 1651T A genome-wide association study identifies KNG1 as a genetic determinant of plasma factor XI level and activated partial thromboplastin time. J. M. Soria, M. Sabater-Lleal, A. Martinez-Perez, A. Buil, L. Folkersen, J. C. Souto, M. Bruzelius, M. Borrell, J. Odeberg, S. Silveira, P. Eriksson, A. Almasy, A. Hamsten. 1652T Gene variants are associated with soft lipid-rich coronary plaque in African Americans with replication in European Americans. L. R. Yanek, B. G. Kral, D. Vaidya, T. F. Moy, L. C. Becker, D. M. Becker. 1653T Genetic variation for leukocyte telomere length predicts incident coronary heart disease: The Framingham Heart Study. S. Hwang, A. Aviv, D. Levy, M. Mangino, S. Hunt, A. L. Fitzpatrick, J. C. Bis, E. S. Smith. 1654T Genome-wide association analysis of plasma triglyceride in Korean population. B. Gombojav, D. H. Lee, M. K. Lee, Y. M. Song, K. Lee, J. Sung. 1655T Genome-wide association study of calcific aortic valve disease. S. Guauque-Olarte, M. Lamontagne, N. Gaudreault, P. Mathieu, P. Pibarot, Y. Bossé, D. Messika-Zeitoun. 1656T Genetic variants explaining sodium intake in a population with higher sodium intake level: The Healthy Twin Study, Korea. M. Kho, Y.-M. Song, K. Lee, J.-E. Lee, K. Kim, J. Sung. POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

180 178 POSTER SESSIONS 1657T Dietary intake of saturated fatty acids modulates the genetic effects on triglyceride concentrations in a Korean genome-wide study. H. Lee, H. Jang, M. Go, J. Park, J. Choi, J. Park, Y. Ahn, B. Han, J. Lee, J. Song. 1658T A GWAS approach in search for modifiers of congenital heart disease in 22q11 microdeletion syndrome. G. M. Repetto, C. Vial, S. McGhee, N. K. Henderson-MacLennan, M. L. Guzman, M. Palomares, G. Lay-Son, K. Espinoza, T. Guo, B. Morrow. 1659T Novel genes related to hypertension: A genecentric meta-analysis with over 127,000 individuals. V. Tragante do O., S. K. Ganesh, W. Guo, Y. Guo, E. N. Smith, M. B. Lanktree, T. Johnson, B. Almoguera Castillo, J. Barnard, J. Baumert, A. G. Uitterlinden, P. van der Harst, Y. T. van der Schouw, N. J. Samani, P. B. Munroe, P. I. W. de Bakker, X. Zhu, D. Levy, B. Keating, F. W. Asselbergs, IBC BP Consortium. 1660T Additional variance of serum lipid levels explained by incorporating less significant genetic variants and allelic heterogeneity. R. Deka, G. Zhang, R. Karns, G. Sun, S. R. Indugula, H. Cheng, D. Havas- Augustin, N. Novokmet, Z. Durakovic, S. Missoni, R. Chakraborty, P. Rudan. 1661T Admixture mapping of coronary artery calcified plaque in African Americans with type 2 diabetes. J. Divers, N. D. Palmer, L. Lu, T. C. Register, J. J. Carr, P. J. Hicks, R. C. Hightower, S. C. Smith, J. Xu, A. J. Cox, K. A. Hruska, D. W. Bowden, C. E. Lewis, G. Heiss, M. A. Province, I. B. Borecki, K. F. Kerr, Y. D. Chen, W. Palmas, J. I. Rotter, C. L. Wassel, A. Bertoni, D. Herrington, L. E. Wagenknecht, C. D. Langefeld, B. I. Freedman. 1662T Genome-wide association studies of NMR-based lipoprotein subclasses in African American populations elucidate subfractions affected by SNP variation. Y. Huang, WM. Chen, K. L. Keene, F. Chen, U. Nayak, X. Hou, I. J. Spruill, K. J. Hunt, J. K. Fernandes, K. H. Lok, J. Divers, J. C. Mychaleckyj, D. L. Kamen, W. Post, S. S. Rich, J. I. Rotter, G. S. Gilkeson, W. T. Garvey, M. Cushman, M. M. Sale. 1663T Redefining fibromuscular dysplasia of the arteries as a TGF-b pathway disorder. R. Morissette, S. Ganesh, B. Griswold, L. Sloper, N. McDonnell. 1664T Integrated microrna and mrna profiling of the mouse ventricles during development of severe hypertrophic cardiomyopathy and heart failure. R. D. Bagnall, T. Tsoutsman, R. E. Shephard, W. Ritchie, C. Semsarian. 1665T Novel transcripts and pathways identified in blood one week following implant of continuous-flow left ventricular assist device. J. L. Hall, W. Guan, A. Mitchell, R. Staggs, S. Grindle, N. Adhikari, S. Hozayen, P. Eckman. 1666T Activation of TLR signaling in atherosclerosis and ischemic stroke. C.-C. Huang, R. Sieberg, G. Feng, S. Wang, M. Yu. 1667T Genetic insights into nonalcoholic fatty liver disease from the proteomic analysis of HDL particles. K. Merath, M. Zickus, R. Komorowski, J. Wallace, M. Goldbladtt, S. Gawrieh, M. Olivier. 1668T Do variations in genes encoding the argonaute proteins confer risk or protection from cardiovascular disease in Europeans? I. Predazzi, W. Bush, S. Williams. 1669T Gene expression profiling in peripheral blood cells in patients with myocardial infarction at young age. T. Zeller, C. Müller, A. Schillert, M. O. Scheinhardt, S. Szymczak, F. Ojeda, C. R. Sinning, R. B. Schnabel, S. Wilde, P. S. Wild, K. J. Lackner, T. Munzel, A. Ziegler, S. Blankenberg. 1670T A genetic study of familial intracranial aneurysm in French-Canadian and Inuits through exome sequencing. S. Zhou, L. Xiong, C. Bourassa, M. Bojanowski, N. Dupré, M. Dubé, A. Dionne-Laporte, D. Spiegelman, E. Henrion, O. Diallo, P. Dion, G. Rouleau. 1671T Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse populationbased survey as part of the Population Architecture using Genomics and Epidemiology (PAGE) Study. D. C. Crawford, L. Dumitrescu, R. Goodloe, K. Brown-Gentry, C. Sutcliffe, R. Wiseman, P. Baker, H. H. Dilks, J. Boston, B. McClellan, Jr., P. Mayo, M. Allen, N. Schnetz-Boutaud, J. L. Haines, T. I. Pollin. 1672T Resequencing of the cholesteryl ester transfer protein gene (CETP) in U.S. Whites and African Blacks with extreme HDL-C levels. D. Pirim, F. Y. Demirci, X. Wang, J. E. Hokanson, R. F. Hamman, C. H. Bunker, C. M. Kammerer, M. M. Barmada, M. I. Kamboh. 1673T Comprehensive evaluation of the effects of APOE genetic variation on plasma lipoprotein traits in U.S. Whites and African Blacks. Z. H. Radwan, F. Y. Demirci, X. Wang, F. Waqar, J. E. Hokanson, R. F. Hamman, C. H. Bunker, C. M. Kammerer, M. M. Barmada, M. I. Kamboh. 1674T Filamin-C: A novel candidate for familial restrictive cardiomyopathy identified by whole-exome sequencing. M. Tariq, E. Miller, S. Ware. 1675T Mutations in SMAD3 in a British cohort of thoracic aortic aneurysm and dissection patients. G. Arno, J. A. Aragon-Martin, O. Song, N. P. Kamali, A. Saggar, M. Jahangiri, A. H. Child. 1676T Distribution of sarcomere versus non-sarcomere gene mutations in over 2400 hypertrophic and dilated cardiomyopathy patients. S. Baxter, A. Daly, D. Macaya, N. Smaoui, G. Richard, W. Chung. 1677T Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts. A. G. Bick, J. Flannick, K. Ito, S. Cheng, R. S. Vasan, M. G. Parfenov, D. S. Herman, S. R. DePalma, N. Gupta, S. B. Gabriel, B. H. Funke, H. L. Rehm, E. J. Benjamin, J. Aragam, H. A. Taylor, E. R. Fox, C. Newton-Cheh, S. Kathiresan, C. J. O Donnell, J. G. Wilson, D. Altshuler, J. N. Hirschhorn, J. G. Seidman, C. Seidman. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

181 POSTER SESSIONS T Whole-exome sequencing for identification of novel genes and variants underlying the risk of long-qt syndrome. M. Chaix, P. Goyette, A. Alikashani, F. Latour, L. Robb, B. Mondesert, L. Rivard, S. Foisy, M. Ladouceur, R. M. Hamilton, M. Talajic, J. D. Rioux. 1679T A rare genetic mutation (FBLN-4 mutation) found in a patient presenting with diffuse severe aortopathy. K. Coleman, P. Fernhoff, S. Shankar, C. Hebson, M. Clabby, B. Kogon, B. Loeys. 1680T Rare variants in Notch pathway genes among individuals with congenital heart defects. K. McBride, G. Zender, S. Fitzgerald-Butt, J. Stemming, A. Hooper. 1681T TTN mutations from exome sequences of 17 DCM families: Clinical implications. A. Morales, N. Norton, D. Li, E. Rampersaud, E. Martin, S. Zuchner, S. Guo, M. Gonzalez, R. Hershberger. 1690T Association of 87 traits related to coronary heart disease and rare sequence variants in the ClinSeq Study. H. Sung, B. Suktitipat, K. Lewis, D. Ng, S. Gonsalves, J. K. Teer, N. F. Hansen, J. C. Mullikin, L. G. Biesecker, A. F. Wilson, NISC Comparative Sequencing Program. 1691T Exome sequencing identifies a novel splice site mutation in LMNA and multigenic heterozygosity of potential modifiers in a multi-generation family with sick sinus syndrome, dilated cardiomyopathy and sudden cardiac death. M. V. Zaragoza, E. Jensen, F. Oh, C. K. Tran, V. Hoang, S. Hakim. 1692T Whole-exome sequencing and quantitative analysis of genetic variants associated with blood pressure: The NHLBI Exome Sequencing Project. S. L. Pulit, ESP Blood Pressure Project Team, NHLBI Exome Sequencing Project. POSTER SESSIONS 1682T A novel Ser33045Ala variant of TTN gene in a family with left ventricular non-compaction and syncope: Is there a linked etiopathogenesis? A. Psychogios, A. Marsidi. 1683T Molecular autopsy for sudden death using whole genome sequencing. M. J. Puckelwartz, L. Dellefave-Castillo, D. Wolfgeher, V. Nelakuditi, M. T. Campbell, J. R. Golbus, E. M. McNally. 1684T High incidence of GLA variants in a nonselected heart disease patient population suggests that the Fabry trait is a common cardiovascular genetic risk factor. R. Schiffmann, S. Forni, C. Swift, X. Wu, D. J. Lockhart, M. Chee, T. Kitaoka, E. Chudin, S. Pond, N. H. McNeill, K. Sims, E. R. Benjamin, L. Sweetman. 1685T Exome sequencing identifies homozygous truncation mutations in MYOM2 in arrhythmogenic ventricular dysplasia/cardiomyopathy. J. Wang, C. Silverstein, H. Lee, E. Mokhonova, A. Seki, S. P. Taylor, M. Fishbein, M. Spencer, S. F. Nelson. 1686T Replication of associations from large scale re-sequencing studies. D. Waterworth, L. Li, R. Scott, C. Gillson, J. Aponte, L. Warren, M. Nelson, M. Ehm, N. Wareham, S. Chissoe. 1687T Rare copy number variants in congenital heart disease affecting gene structure. K. Dumas, Y. Bouhlal, M. McKeon, J. T. C. Shieh. 1688T Rare variants in the APOA5 promoter are associated with a paradoxical HDL-C decrease in response to fenofibric acid therapy. A. Brautbar, M. Barbalic, F. Chen, J. Belmont, S. Virani, S. Scherer, R. Hegele, C. Ballantyne. 1689T COL4A1 and COL4A2 mutations cause genetically modifiable hemorrhagic stroke. M. Jeanne, J. Jorgensen, C. Labelle-Dumais, Y. Weng, W. B. Kauffman, M. de Leau, S. M. Greenberg, J. Rosand, J. Favor, D. B. Gould. 1693T Identification of novel genes and their mutations associated with hypertrophic cardiomyopathy. X. Liu, Q. Huang, X. Dai, W. Xie. 1694T Linkage analysis and exome sequencing to identify causal variants for familial combined hyperlipidemia. A. Mak, C. R. Pullinger, M. J. Malloy, P. L. F. Tang, R. Deo, P. Y. Kwok. 1695T Exome sequencing reveals a truncation mutation in the novex-3 isoform of TTN that disrupts cardiomyocyte ultrastructure and segregates with familial dilated cardiomyopathy. J. L. Theis, V. V. Michels, S. Middha, S. Baheti, P. C. Abell Aleff, T. M. Olson. 1696T Challenges in interpreting secondary variants from massively parallel sequencing, perspectives from the ClinSeq study. D. Ng, J. J. Johnston, K. L. Lewis, S. G. Gonsalves, L. N. Singh, L. C. Peller, J. K. Teer, J. C. Mullikin, L. G. Biesecker. 1697T An intronic mutation affecting pre-mrna splicing in the COL3A1 gene as novel mechanisms causing vascular Ehlres-Danlos syndrome. A. Watanabe, B. T. Naing, M. Sasaki, K. Akutsu, S. Kosaihira, A. Gemma, T. Shimada. 1698T Impaired basement membrane function causes dilated cardiomyopathy in Marfan syndrome. J. R. Cook, L. Carta, L. Benard, E. R. Chemaly, E. Chiu, T. Hampton, N. Clayton, C. Nelson, B. Wentworth, R. J. Hajjar, F. Ramirez. 1699T Oxidative stress as a modifier of cardiovascular disease in a mouse model of Williams Beuren syndrome. B. Kozel, L. Ye, R. Knutsen. 1700T The National Registry of Genetically Triggered Thoracic Aortic Aneurysms (GenTAC): Registry progress and research successes. C. Maslen, GenTAC Consortium. 1701T Association of CRP gene variation in Asian Indian Takayasu s arteritis patients. K. Shah, D. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

182 180 POSTER SESSIONS Danda, R. Shah, S. Prasanna, P. Chandna, R. Chopra, S. Danda. 1702T Cardiomyopathy as an emerging phenotype in hereditary inclusion body myopathy. S. Siebel, S. McGehee, A. Brofferio, C. Ciccone, M. Huizing, L. Medne, R. Finkel, J. McKew, W. A. Gahl, N. Carrillo-Carrasco. 1703T Role of the Pro12Ala, G972R, G1057D polymorphism of the PPAR- g 2, IRS1 and IRS2 genes in type 2 diabetes and coronary artery disease. S. Vats, K. Matharoo, V. Sambyal, A. J. S. Bhanwer. 1704T Genetic causes of cardiomyopathy in pediatric transplant recipients. L. Zahavich, A. Al-Maawali, A. Dipchand, C. Manlhiot, S. Bowdin. 1705T Is your mother or father s family history more important when assessing your risk of having high blood pressure: Studies in humans and mice. C. L. Chiu, C. T. Morgan, S. J. Lupton, S. Lujic, J. M. Lind. 1706T Analysis of variations from exome sequence data with subclinical cardiovascular disease in the diabetes heart study: Variations from exome sequence data with subclinical cardiovascular disease in the diabetes heart study. J. Adams, A. Cox, B. Freedman, J. Carr, D. Bowden. 1707T Common familial effects on ischemic stroke and myocardial infarction: A Swedish national cohort study. K. Kasiman, C. Lundholm, S. Sandin, N. Malki, P. Sparén, E. Ingelsson. 1708T Jervell and Lange-Nielson syndrome: Homozygous missense mutation in KCNQ1 in a Turkish family. S. Temel, O. Bostan, H. Cangul, E. Cil. 1709T Genetic risk profiles for incident coronary heart disease using a 28 SNP marker panel in four prospective cohorts. E. Tikkanen, A. S. Havulinna, A. Palotie, V. Salomaa, S. Ripatti. 1710T Vascular stiffness in a healthy high risk African American population is modified by the extent of European admixture. D. Vaidya, R. A. Mathias, L. R. Yanek, L. C. Becker, D. M. Becker. 1711T A Dutch founder mutation in the cardiac regulatory light chain (MYL2). I. P. C. Krapels, G. R. F. Claes, M. B. Hoos, Y. E. G. Barrois, J.-W. Sels, A. T. J. M. Helderman-van den Enden, P. G. A. Volders, H. J. M. Smeets, A. Van den Wijngaard. 1712T Genome-wide DNA methylation profiling in myocardial infarction. A. Russo, G. Fiorito, S. Guarrera, C. Di Gaetano, F. Ricceri, F. Rosa, A. Allione, F. Voglino, L. Iacoviello, M. C. Giurdanella, R. Tumino, S. Grioni, V. Krogh, A. Mattiello, S. Panico, P. Vineis, C. Sacerdote, G. Matullo. 1713T Common cardiovascular disease risk factors are associated with mitochondrial DNA levels. S. Mitchell, K. Brown-Gentry, M. Allen, L. Hunt, P. Mayo, N. Schnetz- Boutaud, D. C. Crawford, D. G. Murdock. 1714T Assessing change in quality of life in patients participating in Additional KIF6 Risk Offers Better Adherence to Statins trial. H. R. Superko, S. L. Charland, B. C. Agatep, V. Herrera, M. Ryvkin, B. J. Schrader, J. Shabbeer, J. J. Devlin, E. J. Stanek. 1715T Heritability of John Henryism, and correlation between John Henryism and hypertension in the Jackson Heart Study. S. G. Buxbaum, P. Goel, W. White, M. Gregoski, S. H. Dunn. Genetic Counseling and Clinical Testing 1716W Assessment of health information technology tools use among cancer genetic counselors. M. Doerr, T. Vu, C. Eng. 1717W Behavior and food-related concerns in children with Smith-Magenis syndrome are similar to Prader-Willi syndrome. L. V. Barton, T. P. York, S. H. Elsea. 1718W Genetic counseling future in historicist Middle East culture. A. Haghighatfard, M. Mahdavi. 1719W Pre-conception genetic counseling awareness in a post-secondary educational institute. A. Neogi, A. Mahesh, D. Jalaluddin Shariff. 1720W Genetic counseling in India: Challenges in a developing country. R. Puri, U. Kotecha, R. Saxena, J. Verma, S. Movva, S. Kohli, I. C. Verma. 1721W A novel GLI2 mutation and discordant holoprosencephaly phenotypes in monozygotic twins. C. Quindipan, M. Van Hirtum-Das, S. Saitta. 1722W Furnishing appropriate information on mitochondrial diseases to patients and their families. Y. Sato, Y. Goto. 1723W A special thalassemia case with probable uniparental disomy. Y. Zhang, J. Wu, M. Q. Mai, A. H. Yin, H. K. Ding, D. Q. Qin, Q. Y. Du, J. Q. Liang. 1724W Understanding the needs of parents of children with a genetic diagnosis: Can it improve clinical practice? L. Bryson, J. Dunlop, A. Anderson, J. Berg. 1725W A diagnostic assay for predicting medullary cystic kidney disease type 1. B. Blumenstiel, M. DeFelice, A. Kirby, A. Gnirke, A. Bleyer, S. Gabriel, M. Daly. 1726W Studding the importance of common a-deletions among b-thalassemia minor individuals in an Iranian population based on their frequencies and CBC indexes. A. Moosavi, M. Karimipoor, S. Zeinali, B. Zarbakhsh. 1727W Genomic data interpretation challenges: Healthy older relatives as super controls. M. S. Naslavsky, R. C. M. Pavanello, N. C. V. Lourenço, A. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

183 POSTER SESSIONS 181 Cerqueira, M. Lazar, M. Vainzof, D. Schlesinger, M. Zatz. 1728W Assessment of cascade testing in families of carriers identified through newborn screening for cystic fibrosis in western Brittany, France. C. Ferec, I. Dugueperoux, M.-P. Audrezet, P. Parent, V. Scotet. 1729W NextGen sequencing of HEXA: A more sensitive assay. J. Hoffman, M. Umbarger, C. Kennedy, B. Bishop, P. Saunders, G. Porreca, E. Strovel, M. Blitzer, J. Douyard, J. Davies, S. Hallam, V. Greger, C. Towne. 1730W No association between ATXN2 (SCA2) CAG repeat expansion and amyotrophic lateral sclerosis /parkinsonism-dementia complex of the Kii Peninsula, Japan. H. Tomiyama, C. Yamashita, R. Sasaki, Y. Li, M. Funayama, N. Hattori, S. Kuzuhara, Y. Kokubo. 1731W Assigning disease liability of mutations in the CFTR gene improves detection rate of CF carrier screening. K. R. Siklosi, P. R. Sosnay, F. Van Goor, K. Kaniecki, M. Corey, A. S. Romalho, M. D. Amaral, R. Dorfman, R. Karchin, M. H. Lewis, H. Yu, J. Zielenski, J. M. Rommens, C. Castellani, C. M. Penland, G. R. Cutting. undergoing molecular testing for Ehlers Danlos syndrome at The Hospital for Sick Children in Toronto, Canada: Five year experience. L. Dupuis, M. A. Qoqandi, P. Kannu, L. Fishman, D. Chitayat, S. Bowdin, R. Mendoza-Londono. 1739W Detection of oipa using PCR method can help to the diagnosis of Helicobacter pylori in the dyspeptic patients. L. Salimzadeh, N. Bagheri, F. Azadegan, G. Rahimian, A. Taghikhani, M. Hashemzadeh, H. Shirzad. 1740W Connecting family branches through recurrent BRCA mutations. A. Toland, M. O Connor, L. Senter. 1741W Low prevalence of large genomic rearrangements in BRCA1/2 found in at-risk Southern California population. T. Hoffman, M. Alvarado. 1742W Clinical whole exome sequencing for the diagnosis of Mendelian disorders: Program design, implementation, and first year reporting experience. C. M. Eng, D. Muzny, J. Reid, M. Bainbridge, P. Pham, M. R. Bekheirnia, J. Beuten, M. Hardison, Z. Niu, R. Person, M. Vatta, F. Xia, A. Hawes, M. Wang, Y. Ding, H. Sun, M. Scheel, N. Saada, W. Liu, A. Braxton, P. Ward, A. Willis, J. Wiszniewska, S. E. Plon, J. R. Lupski, A. L. Beaudet, R. A. Gibbs, Y. Yang. POSTER SESSIONS 1732W Mutational screening of C9ORF72, SOD1, TARDBP and FUS genes in an ALS cohort from the Northeastern part of Italy. C. Bertolin, J. Agostini, C. D Ascenzo, F. Boaretto, C. Salvoro, C. Angelini, E. Pegoraro, G. Sorarù, M. L. Mostacciuolo. 1733W Cree leukoencephalopathy and Cree encephalitis carrier screening program: Live experiences of carrier and non-carrier couples. J. Le Clerc-Blain, H. Denoncourt, A. Richter, A. M. Laberge. 1734W Diagnostic exome sequencing in movement disorders. E. J. Kamsteeg, C. F. H. A. Gilissen, K. Neveling, H. J. E. de Reuver, B. P. C. van de Warrenburg, M. A. A. P. Willemsen, S. Vermeer, H. G. Brunner, M. R. Nelen, H. Scheffer. 1735W Whole exome sequencing as an approach to the diagnosis of the ataxic patients. Y. Yang, M. Vatta, Z. Niu, Y. Ding, H. Sun, M. Scheel, N. Saada, W. Liu, M. Wang, D. P. Sexton, A. C. Hawes, M. N. Bainbridge, P. A. Pham, J. G. Reid, D. M. Muzny, A. A. Braxton, P. A. Ward, T. M. Balmakund, W. K. Chung, A. Willis, S. E. Plon, J. R. Lupski, R. A. Gibbs, A. L. Beaudet, C. M. Eng. 1736W A retrospective genetic analysis of cases reported using an XLMR/XLID next-generation sequencing panel. M. Parra, S. Mexal, R. Hoiness, K. Waller, I. Lu, C. Gau, J. A. Neidich, J. Wei. 1737W Principles and informatic infrastructure for implementing diagnostic next-generation sequencing for genetically heterogeneous conditions. S. Topper, V. Nelakuditi, C. Tan, A. Reeder, D. del Gaudio, S. Das. 1738W Clinical characterization of patients 1743W Diagnostic yield of single nucleotide polymorphism array-based genotyping is equivalent to metaphase cytogenetics for Turner syndrome. S. K. Prakash, D. C. Guo, C. L. Maslen, M. Silberbach, D. M. Milewicz, C. A. Bondy, GenTAC Investigators. 1744W High resolution copy number profiling of the X chromosome in clinical diagnosis. S. A. Yatsenko, S. Madan-Khetarpal, U. Surti, A. Rajkovic. 1745W MLPA-based strategy for discrete CNV genotyping: CNV-miRNAs as an example. M. Marcinkowska, P. Kozlowski. 1746W Turkish medical students perceived genetic counseling style and the use of hypothetical genetic testing across 5 psychiatric and 3 non-psychiatric disorders. D. Kinney, E. A. Ergul, K. Munir, O. Kutuk, F. Topuz, A. Kanik. 1747W Non-optical massive parallel DNA sequencing of BRCA1 and BRCA2 genes: Towards the diagnostic setting. J. L. Costa, S. Sousa, R. Fernandes, L. Cirnes, J. C. Machado. 1748W Identifying the genetic cause of primary immunodeficiency diseases: Development of a next-generation sequencing approach for routine diagnostics. S. C. Drury, C. Bacchelli, S. Bibi, F. McKay, L. Jenkins, H. B. Gaspar, C. M. Cale, K. C. Gilmour, N. J. Lench. 1749W Exome sequencing analysis for diagnostics. C. Gilissen, M. Nelen, K. Neveling, R. de Reuver, L. E. L. M. Vissers, N. Wieskamp, H. G. Yntema, J. de Ligt, M. Rosario, H. G. Brunner, H. Scheffer, J. A. Veltman. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

184 182 POSTER SESSIONS 1750W Detection and mapping the breakpoints of heteroplasmic mtdna deletions by massively parallel sequencing. F.-Y. Li, H. Cui, D. Gonzalez, J. Wang, V. Zhang, L.-J. Wong. 1751W Three novel AGL mutations in glycogen storage disease type III in Tunisian families. A. Mili, O. Mamaï, I. Ben Charfeddine, A. Amara, S. Pagliarani, S. Lucchiari, A. Saad, K. Limem, M. Gribaa. 1752W Multiplex PCR assay for detection of the 2 most common mutations in the profilaggrin gene (FLG) involved in ichthyosis vulgaris. G. Pont-Kingdon, L. Hubley, E. E. Baldwin, E. Lyon. 1753W GeneReviews as a source of medically actionable information for coincidentally diagnosed disorders. M. P. Adam, C. R. Dolan, A. R. Amemiya, M. Espeseth, T. D. Bird, K. Stephens, R. A. Pagon. 1754W Comprehensive diagnostic hearing loss testing on a single platform: The OtoGenome test. S. S. Amr, T. J. Pugh, E. Duffy, L. Farwell, S. Gowrisankar, A. Lovelette- Hernandez, B. H. Funke, H. L. Rehm. 1755W Allele drop out and MECP2 genetic testing. E. Bettella, R. Polli, E. Leonardi, A. Murgia. 1756W Screening for and Identification of pathogenic mutations in patients with inherited retinal degenerations using targeted enrichment and next-generation sequencing. M. B. Consugar, Z. D. Fonseca-Kelly, E. M. Place, E. Au, S. M. Harper, X. Gai, E. L. Berson, E. A. Pierce. 1757W Validation of whole exome sequencing assay for clinic service at Baylor College of Medicine. Y. Ding, D. M. Muzny, J. G. Reid, M. Wang, Y. Han, H. Dinh, D. P. Sexton, M. N. Bainbridge, A. C. Hawes, P. Pham, B. Yin, D. P. C. Ng, C. J. Buhay, J. Wiszniewska, M. Scheel, N. Saada, W. Liu, H. Sun, R. A. Gibbs, A. L. Beaudet, C. M. Eng, Y. Yang. 1758W Advancing from targeted resequencing to whole exome sequencing for improving the molecular diagnosis of congenital disorders of glycosylation. M. A. Jones, B. G. Ng, P. He, M. E. Losfeld, S. Bhide, D. Rhodenizer, E. L. H. Chin, M. He, H. H. Freeze, M. R. Hegde. 1759W A novel splice site variant (IVS44-3T.C) in COL3A1 results in small amounts of exon skipping and complicates genetic counseling in a family with features of hypermobility Ehlers-Danlos syndrome. D. F. Leistritz, U. Schwarze, D. Sarroza, P. D. Steele, C. Boni, B. A. Salbert, P. H. Byers. 1760W A DNA-based method for detecting homologous blood doping. I. Manokhina, J. L. Rupert. 1761W Identification of ARID1B mutations in intellectual disability/coffin-siris patients by clinical whole exome sequencing analysis. Z. Niu, M. Vatta, A. Willis, Y. Ding, H. Sun, M. Scheel, N. Saada, W. Liu, M. Wang, D. P. Sexton, A. C. Hawes, M. N. Brainbridge, P. Pham, J. G. Reid, D. M. Muzny, P. A. Ward, A. A. Braxton, A. Scheuerle, M. K. Koenig, S. E. Plon, J. R. Lupski, R. A. Gibbs, A. L. Beaudet, Y. Yang, C. M. Eng. 1762W National Institutes of Health Genetic Testing Registry. W. S. Rubinstein, D. Maglott, B. L. Kattman, A. Malheiro, J. Lee, M. Ovetsky, V. Hem, G. Song, V. Gorelenkov, C. Fomous, J. Ostell. 1763W EuroGentest Clinical Utility Gene Cards: Progress and perspectives. J. Schmidtke, A. Dierking. 1764W Mutation screening of genes causing inherited immunodeficiency and bone marrow failure using nextgeneration sequencing. T. A. Sivakumaran, A. Husami, D. Kissell, K. Zhang. 1765W Mutation analysis of the SOX2 and OTX2 genes in 235 patients with developmental eye disorders. N. Smaoui, B. Williams, S. Aradhya, S. Bale, S. Suchi, G. Richard. 1766W Digitizing clinical genetic literature: A comprehensive, accurate and scalable approach. M. Sommargren, Locus Development, Inc. 1767W Estimated variant rate for a next-generation sequencing panel of 13 genes associated with hereditary colon cancer. A. J. Stuenkel, S. L. Tandy, J. D. Siegfried. 1768W Simple and accurate assays for targeting CFTR mutations of specific geographic/ethnic origins by PCR allelic discrimination: still a place for targeted tools. C. Vasseur, A. LeFloch, B. Costes, A. de Becdelièvre, T. Casals, C. Costa, M. Goossens, E. Girodon. 1769W The CLARITY Challenge: Children s leadership award for the reliable interpretation and appropriate transmission of your genomic information. C. A. Brownstein, E. T. DeChene, K. C. Flannery, S. W. Kong, M. C. Connolly, I. S. Kohane, A. H. Beggs, D. M. Margulies. 1770W What is a clinical grade genome? F. De La Vega, A. Russell, M. A. Morales, C. D. Bustamante, M. G. Reese. 1771W The mutation type and effect of variants underlying human genetic diseases. J. Westbrook, Y. Kobayashi, Locus Development, Inc. 1772W Application of next-generation sequencing technology in the study of mitochondrial diseases. Y. Ma, Y. Cao, Z. Chen, H. Pan, Y. Qi. 1773W A combined next-generation sequencing and exon-level acgh diagnostic gene panel for severe developmental delay and epilepsy phenotypes. N. J. Lench, H. Moody, A. McTague, E. Meyer, S. Drury, S. Fielding, R. Palmer, M. A. Kurian, R. H. Scott. 1774W High-throughput mutation screening in patients with inherited retinal dystrophies. X. Wang, A. Turner, M. Brooks, H. Rajasimha, K. Johnson, Y. Fann, A. Swaroop. 1775W Predictive testing for neurodegenerative W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

185 POSTER SESSIONS 183 conditions is often not predictive. C. L. Goldsmith, D. A. Dyment, K. M. Boycott. 1776W Large scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy. I. Scionti, F. Greco, G. Ricci, M. Govi, P. Arashiro, L. Vercelli, T. Mongini, A. Berardinelli, C. Angelini, G. Antonini, M. Cao, A. Di Muzio, M. Moggio, L. Morandi, E. Ricci, C. Rodolico, L. Ruggiero, L. Santoro, G. Siciliano, G. Tomelleri, C. P. Trevisan, G. Galluzzi, W. Wright, M. Zatz, R. Tupler. 1777W Identification of a common pan-ethnic haplotype enriched on SMN1 duplication alleles improves the detection of silent (210) SMA carriers and significantly modifies residual risk estimates. M. Luo, L. Liu, I. Peter, J. Zhu, S. A. Scott, G. Zhao, C. Eversley, R. Kornreich, R. J. Desnick, L. Edelmann. 1778W Multiplexing test for molecular diagnosis of skeletal dysplasia (by CGC mutation panel). P. Tavares, A. Lopes, L. Lameiras, L. Dias, J. Sá, A. Palmeiro, P. Rendeiro. 1779W A combination of panel and exome sequencing to identify novel human retinitis pigmentosa genes. F. Wang, H. Wang, J. Zaneveld, K. Zhang, R. Koenekoop, G. Silvestri, N. Solanki, J. Cheng, I. Lopez, H. Ren, D. Simpson, R. Chen. 1780W Evaluation of BRCA1 mutations in patients with family history of breast cancer. S. Rummel, C. D. Shriver, R. E. Ellsworth. 1781W Measuring clinician satisfaction with disclosure of genetic susceptibility test results: Findings from the REVEAL Study. S. L. Everhart, B. M. Wood, K. Valverde, L. Medne, J. S. Roberts, C. A. Chen, K. D. Christensen, R. C. Green, REVEAL Study Group. 1788W Underestimated intimate issues after bilateral prophylactic mastectomy with breast reconstruction in healthy BRCA mutation carriers. A. Tibben, J. Gopie, C. Seynaeve, M. Ter Kuile, M. Menke-Pluymers, R. Timman, M. Mureau. 1789W Risk of peripartum acute aortic dissection in women with ACTA2 mutations. E. Regalado, D. Guo, D. Milewicz. 1790W Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum. E. De Vilder, M. J. Hosen, L. M. Martin, B. P. Leroy, J. M. Ebran, P. J. Coucke, A. De Paepe, O. M. Vanakker. 1791W Familial occurrence and associated symptoms in a population of individuals with non-syndromic craniosynostosis. J. Greenwood, S. Boyadjiev, K. Osann, P. Flodman, V. Kimonis. 1792W Personalized risk prediction in a populationbased biobank: The Estonian experience. K. Fischer, K. Läll, L. Leitsalu-Moynihan, P. C. Ng, T. Haller, T. Esko, A. Metspalu. 1793W Acquired thrombophilias; The reproductive geneticist s dilemma. T. Goldwaser, K. Bajaj, S. Klugman. 1794W Family history and risk assessment in black South African women with breast cancer. T. Wainstein, C. van Wyk, A. Krause. 1795W Support for patients with Young-Simpson syndrome, their families and other peoples concerned: Study of patients and family group meetings. Y. Yamanouchi, T. Nishikawa, K. Enomoto, N. Furuya, S. Mizuno, T. Kondo, M. Adachi, K. Muroya, M. Masuno, K. Kurosawa. POSTER SESSIONS 1782W Reactions to direct-to-consumer BRCA test results. U. Francke, C. Dijamco, A. K. Kiefer, N. Eriksson, J. Y. Tung, J. L. Mountain. 1783W Targeted gene capture of BRCA1 using short, explicitly non-gene-specific, peptide nucleic acid baits. S. V. Tavtigian, K. Tao, R. Bell, J. Rosenthal, W. Kohlmann. 1784W Predictive testing for idiopathic scoliosis: Are orthopedic surgeons and pediatricians ready and willing? A. M. Laberge, A. Moreau. 1785W Myocilin genetic screening in severe glaucoma cases and cascade testing in the Australian and New Zealand Registry of Advanced Glaucoma. E. Souzeau, K. P. Burdon, B. Usher-Ridge, A. Dubowsky, J. E. Craig. 1786W Parental awareness, attitudes, and experiences of genetic testing in autism spectrum disorders. A. Rupchock, M. Cuccaro, M. Alessandri, J. M. Lee. 1787W Genetic testing in autism: Parental attitudes and expectations. M. Cuccaro, K. Czape, J. M. Lee, A. Rupchock, E. Bendik, M. Alessandri, S. Hahn. 1796W Duplications Xq28 are questionable for genetic counseling. C. Costa, A. Briand, C. Rothschild, E. Bieth, J. Melki, C. Metay, M. Goossens. Ethical, Legal, Social and Policy Issues in Genetics 1797W Surname leakage from personal genomes. Y. Erlich, M. Gymrek, D. Golan, E. Halprein, A. L. McGuire. 1798F Optional enrollment into access controlled genomic databases: Decision making in hispanics versus non-hispanics. S. Scollon, S. Gutierrez, A. L. McGuire, S. Hicks, S. E. Plon. 1799W Development of institutional genomic research infrastructure in an academic pediatric hospital setting to enable large-scale enrollment, education and discovery. C. M. Clinton, S. K. Savage, C. A. Brownstein, I. A. Holm, D. M. Margulies, W. A. Wolf. 1800F A proposal: A family driven social network model for clinical data sharing and research in W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

186 184 POSTER SESSIONS intellectual deficiencies and other neurodevelopmental disorders with specific genetic causes. J.-L. Mandel, J. S. Beckmann. 1801W Turkish medical students attitude towards the ethics of genetic testing and genetic information disclosure in fragile X syndrome, breast cancer and Huntington disease. E. A. Ergul, I. Gun. 1802F Hope and hype in sight: Multi-stakeholder perspectives on ocular gene therapy. S. Benjaminy, T. Bubela, M. Bieber, I. MacDonald. 1803W Social and ethical implications of families experiences of pediatric genetics: Key findings from a U.K. qualitative study exploring families expectations, their responses to diagnosis and their approach to managing the uncertainties of genetic investigations. J. McLaughlin, M. Wright, E. K. Clavering, E. Haimes. 1804F Driving research forward, but in what direction? Scientist perspectives on goals and groups invested in autism genetic research. L. C. Milner, M. K. Cho. 1805W Experiential process of securing free prior informed consent for genetics research from an indigenous population in the Philippines. C. D. Padilla, A. L. Sur, M. T. Guia-Padilla, M. Baluyot, E. M. Cutiongcode la Paz, S. Padilla. 1806F The essential ethical considerations for using human genome sequencing as a diagnostic tool in clinical medicine. A. D. Zellers. 1807W The evaluation of low template, degraded and mixed DNA profiles in forensic science. D. Balding. 1808F Legal considerations regarding participant privacy in the genomic era of research on the African continent. G. E. B. Wright, P. Koornhof, N. Tiffin. 1809W Insurance coverage of preventive services for individuals with genetic predispositions to cancer. A. Prince. 1810F The implementation and impact of student athlete sickle cell trait screening: A survey of Division I California universities. L. Mar, N. Lovick, C. Hartshorne, M. Treadwell, J. Youngblom. 1811W Direct to consumer genetic testing: What information for which consent? J. Atia, E. Rial-Sebbag, V. Anastosova, A. Cambon-Thomsen, F. Taboulet. 1812F Genetic discrimination and the relevance of the United Nations Convention on the Rights of Persons with Disabilities. A. de Paor. 1813W Representing the indigenous community: Researcher and physician voices spark debate over newborn screening of CPT1A in Alaska Native and First Nations populations. N. Garrison. 1814F Next-generation sequencing of pluripotent stem cell lines: Ethical, social and policy considerations. R. Isasi. 1815W Research policy of the Genome Science project in Japan. J. Minari, T. Shirai, G. Yoshizawa, K. Okada, N. Yamamoto, K. Kato. 1816F Cultural influences on genetic testing in East Asia. H. Numabe. 1817W The need for an ELSI watch of epigenetic information. E. Rial-Sebbag, A. Soulier, C. Delpierre. 1818F Pervasive sequence patents cover the entire human genome. J. A. Rosenfeld, P. Zumbo, C. E. Mason. 1819W The revised points of ethical guidelines for human genome research in Japan. Z. Yamagata, K. Muto. 1820F Does evidence justify the use of multigene sequencing panels for rare genetic disorders? D. Allingham-Hawkins, A. Lea, L. Cushman-Spock, L. Wieselquist, S. Levine. 1821W The student-athlete s knowledge, behaviors, concerns and perceptions in regards to mandatory sickle cell trait testing. N. E. Thompson, B. W. Harrison, F. Ampy, R. F. Murray, Jr. 1822F Primary care patients experience of and reactions to direct-to-consumer genomic testing: A longitudinal qualitative study. K. Wasson, T. N. Sanders, N. S. Hogan, S. Cherny, K. J. Helzlsouer. 1823W Whole genome sequencing: Will it destroy newborn screening? C. Allen, D. Avard, B. M. Knoppers. 1824F Patient and provider perspectives on personalized genomic medicine: Qualitative substudy of a multicenter feasibility study of genomic sequencing in advanced cancer patients. J. P. Bytautas, F. A. Miller, R. Z. Hayeems, S. Ernst, H. Hirte, S. Hotte, A. Oza, A. Razak, S. Welch, E. Winquist, P. L. Bedard, J. Dancey, L. L. Siu. 1825W Consumer genomics: Motivations and intentions. R. C. Green, J. Mountain, A. Kiefer, T. Moreno, E. MacBean, S. S. Kalia, J. S. Roberts, PGen Study Group. 1826F The Ethical, Legal and Social Implications Program: Impact on federal policy. D. Mathews, B. Drehman. 1827W Public perspectives regarding personalized medicine and genomic risk profiling within colorectal cancer screening. S. G. Nicholls, B. J. Wilson, S. Craigie, H. Etchegary, D. Castle, J. C. Carroll, B. K. Potter, L. Lemyre, J. Little on behalf of CIHR Emerging Team in Genomics in Screening. 1828F Pursuing pharmacogenomic testing within a nonprofit healthcare system: A comparison of W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

187 POSTER SESSIONS 185 stakeholders perspectives. S. M. Fullerton, S. B. Trinidad, J. D. Ralston, J. T. Tufano, G. P. Jarvik, E. B. Larson. 1829W Public preferences for the use of and Internet communication in large-scale genetic and biobank research. J. Murphy Bollinger, R. Dvoskin, K. Kreger, D. Kaufman. 1830F Public attitudes towards consumer genetics in Japan, South Korea and Taiwan. K. Muto, M. Sato, H. Hong, C. Chang. 1831W Japanese networkers’ attitudes toward personal genome services. T. Kido, M. Kawashima. 1832F Genetic risk predictions: Attitude of the Estonian public. L. Leitsalu-Moynihan, A. Allik, M. L. Tammesoo, A. Metspalu. M. Robson, K. Offit. 1842F Integrating exome/genome sequencing into clinical genetics practice. S. M. Jamal, H. K. Tabor, J. Conta, J. Yu, M. J. Bamshad. 1843W A proposed approach to the integration of sequence data at a pediatric academic institution. S. K. Savage, C. M. Clinton, I. A. Holm, I. S. Kohane, D. M. Margulies. 1844F Assessing participant preferences for the return of genomic research results. L. Shahmirzadi, M. K. Cho, S. Soo-Jin Lee, K. E. Ormond. 1845W The NHGRI/NIH Clinical Sequencing Exploratory Research Program. B. A. Ozenberger, L. A. Hindorff, S. D. Schully, J. Boyer, N. Lockhart, L. Lund, C. Mahomva, A. Felsenfeld, J. E. McEwen. POSTER SESSIONS 1833W Attitude change for four years toward genetic testing of children for common disease risk in Japan. I. Ishiyama, K. Muto, A. Tamakoshi, T. Maeda, A. Nagai, Z. Yamagata. 1834F African Americans in South Florida’s perceptions about genetic research participation: Opportunities and barriers. J. M. Lee, M. Gavier, S. E. Hahn, L. Adams, D. A. Caldwell, K. G. Murphy, C. Jean, M. A. Pericak-Vance. 1835W Unexpected results in biobank research: Experiences of information delivery and direction to health care after detection of mutations leading to long QT syndrome. H. Kaariainen, E. Kujala, P. Alha, V. Salomaa, S. Koskinen, H. Swan, A. Haukkala. 1836F The Gene Partnership: A model for pediatric genetic repositories in the age of the incidentalome. I. A. Holm, C. M. Clinton, S. K. Savage, P. L. Taylor, K. D. Mandl, J. P. Bickel, D. J. Nigrin, I. S. Kohane, D. M. Margulies, L. M. Kunkel. 1837W The Medical College of Wisconsin Program in Genomics and Ethics: An empirical bioethics venture. K. A. Strong, T. May, K. L. Zusevics, A. R. Derse. 1838F Evaluation of a scalable method for returning results and genetic findings from genomic research to research participants. J. Y. Tung, S. Wu, B. T. Naughton, J. L. Mountain. 1839W Perceptions of genetic counseling services in direct-to-consumer personal genomic testing. B. F. Darst, N. J. Schork, E. J. Topol, C. S. Bloss. 1840F Shared decision-making: Seeking a change in the genetics consult. S. Adam, P. H. Birch, A. Townsend, F. Rousseau, J. M. Friedman. 1841W Personal genomics: A study assessing the safety and health outcomes of receiving whole exome sequencing results. Y. Bombard, K. Schrader, E. Glogowski, R. Rau-Murthy, S. Patil, A. Eaton, E. Elkin, M. J. Massie, J. Hay, S. Shah, J. Vijai, N. Kauff, Z. Stadler, 1846W Genomic incidental findings: Perspectives of geneticists and genetic counselors in the context of clinical sequencing. Z. Lohn, S. Adam, P. H. Birch, A. Townsend, J. M. Friedman. 1847W Accounting for racial disparities in mortality among children with Down syndrome. S. Santoro, A. Esbensen, L. Hendershot, F. Hickey, B. Patterson. 1848W ELSI 2.0: A new initiative to create an international infrastructure for the ethical, legal and social implications of genomic research. K. Kato, J. Kaye, E. M. Meslin, B. M. Knoppers, E. T. Juengst, M. Deschenes, A. Cambon- Thomsen, D. Chalmers, J. De Vries, K. Edwards, N. Hoppe, A. Kent, C. Adebamowo, P. Marshall. 1849W The challenges of defining a phenotype for addiction: In the words of addiction scientists. J. B. McCormick, J. E. Ostergren, R. R. Hammer, H. S. Harvey, M. Dingel, B. A. Koenig. 1850W Discriminating faces: Visual cues of ancestry. J. Wagner, P. Claes, M. Shriver. Genetics Education 1851F Integrating medical genetics into primary health care: Report of a pilot program in Brazil. T. Vieira, C. Giugliani, L. Silva, L. Faccini, J. Leite, O. Artigalás, M. Lenz, M. Rojas, R. Giugliani. 1852F The Gene Messenger impact project: A genetics e-learning program for family physicians. J. C. Carroll, R. Grad, P. Pluye, J. Allanson, J. Permaul, N. Pimlott, B. J. Wilson. 1853F Examining the research training of recent genetic counseling graduates. S. Hahn, A. Rupchock, E. Bendik, E. Burkett, E. Heise. 1854F Increasing the number of URMs in genomic W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

188 186 POSTER SESSIONS science. D. Murray, D. Whittington, R. Gibbs. 1855F Pharmacotherapy of Inherited Metabolic Diseases PharmD Fellowship Training Program. J. Utz, W. Whitley. 1856F Promoting student engagement and critical thinking in genetics: An evaluation of Luck of the Draw game. M. Godfrey, A. Bower, K. L. Tracy, R. Anderson, A. Jameton, B. Arobba, C. Ryan. 1857F Genetic numeracy in college students: A quantitative analysis. M. Bergman, H. Honore Goltz. 1858F The Growing Stronger Organization and the Acondroplasia - Achondroplasia Blog: A parents initiative to share knowledge and foster alliances towards potential therapeutic approaches for achondroplasia. M. Kaisermann. 1859F Genetics Home Reference, ten years in: Where we are now. S. M. Morrison, M. L. Cheh, S. Calvo, H. Collins, J. Fun, K. Greenberg, L. Forman-Neall. 1860F Investigating a conceptual change strategy to improve student understanding of basic genetics concepts in undergraduate non-science major and nursing student populations. B. Bowling, M. Glassford, S. Barnes, S. Borgman, E. Reilly, T. Beery, C. Huether. 1861F Alignment and assessment problems in the undergraduate genetics curriculum. M. Dougherty, T. McElhinny, B. Bowling, J. Libarkin. 1862F YouTube as an educational resource for visual and kinesthetic learners: A study of DNA replication animations. J. M. Lind. 1863F Genetic counseling in India: Current certification courses and a need for the development of a master s training program. K. Shah. Health Services Research 1864F A strategy of applying comprehensive therapeutic approaches for training children with autism. H. Xu, N. Zhong. 1865F Genetics and public health: The experience of a referral center for diagnosis of 22q11.2 deletion in Brazil and suggestions for implementing genetic testing. T. Vieira, I. Sgardioli, V. Gil-da-Silva-Lopes. 1866F Outreach, genetic counseling and testing of patients at risk for hereditary breast and ovarian cancer ascertained through the use of the electronic medical record. H. Kershberg, E. Parkhurst, M. Alvarado, H. Zhou, J. Natoli, G. Tiller. 1867F Prevalence of Down syndrome in the United States. A. P. Presson, G. Partyka, K. M. Jensen, S. A. Rasmussen, O. J. Devine, L. McCabe, E. R. B. McCabe. 1868F Rare disease initiatives in Europe: Centers of expertise in Germany. C. Huebner, M. Stuhrmann- Spangenberg, C. Zeidler, J. Schmidtke. 1869F Implementation of universal Lynch syndrome screening in an integrated health-care delivery system. K. A. B. Goddard, T. Kauffman, M. Morse, J. Davis, C. Young, E. Esterberg, C. McGinley, J. Reiss. 1870F Beyond NGS technology: Overcoming key challenges for nation-wide implementation of nextgeneration sequencing into routine diagnostics. T. Vrijenhoek on behalf of Centre for Genome Diagnostics. 1871F Inherited Neuropathies Consortium: A collaborative approach to genetic research in Charcot-Marie-Tooth disease. F. Speziani, S. M. E. Feely, C. Siskind, S. H. Blanton, G. Beecham, J. M. Vance, M. Shy, S. Zuchner, Inherited Neuropathies Consortium. 1872F Genomic technologies: Effective integration into pediatric clinical care. R. Hayeems, N. Hoang, S. Chenier, J. Stavropoulos, S. Pu, S. Wodak, R. Babul-Hirji, J. Davies, L. Velsher, J. Aw, R. Weksberg, C. Shuman. 1873F Genomic technologies: Effective integration into adult preventive medicine. N. Hoang, R. Hayeems, J. Davies, L. Velsher, J. Aw, S. Chenier, J. Stavropoulos, S. Pu, S. Wodak, R. Babul-Hirji, R. Weksberg, C. Shuman. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

189 POSTER SESSIONS F Evaluating laboratories interpretation of genetic test results through a EuroGentest Proficiency Testing survey. E. Girodon, S. Berwouts, M. Rodriguez de Alba Freiria, AF. Roux, D. Barton, L. Hoefsloot, S. Gardner, O. Kamarainen, B. Fowler, M. A. Morris, E. Dequeker, R. Hastings. 1875F Interstate compatibility and emergency preparedness of newborn screening laboratories at the interface of clinical medicine and public health. J. Mulvihill, P. Hopkins, S. Berberich. 1876F Evaluation of the Bogotá Congenital Malformations Surveillance Program. I. Zarante, C. Mallarino, G. Gracia. 1877F Drivers, barriers and opportunities for genetic testing services in emerging economies: The Genetic Testing in Emerging Economies project. I. Nippert, A. Christianson, D. D. G. Horovitz, R. Raouf, C. D. Padilla, V. Penchaszadeh, A. Rajab, I. C. Verma, N. Zhong, L. Gribaldo, U. Kristoffersson, J. Schmidtke. Complex Traits and Polygenic Disorders 1878W Genetic variation in susceptibility to hypothyroidism induced hearing impairment. Q. Fang, T. J. Jones, T.-W. Gong, A. H. Mortensen, M. T. Fleming, D. F. Dolan, M. I. Lomax, K. R. Johnson, M. Mustapha, S. A. Camper. 1879T Transethnic mapping of putative diabetic nephropathy loci in African Americans. N. D. Palmer, M. C. Y. Ng, J. N. Cooke, M. Petrulis, B. I. Freedman, D. W. Bowden. 1880F The exon 3 deleted/full-lenght polymorphism of the growth hormone receptor in the Brazilian population: Association with idiopathic short stature and body composition measurements in osteoporosis. F. A. Marques, T. C. L. Lins, C. T. Neves, M. T. O. Cardoso, R. M. Lima, R. J. Oliveira, R. W. Pereira, R. Pogue. 1881W Variants in PTPN22 and SMOC2 genes and the risk of thyroid disease in the Jordanian population. A. Alkhateeb, N. Marzouka, R. Tashtosh. 1882T Genetic associations with neonatal thyroid stimulating hormone levels. F. Alul, O. Shchelochkov, S. Berberich, J. Murray, K. Ryckman. 1883F TNF-b Nco1 polymorphism in relation to postoperative sepsis outcome in joint care surgery. K. Baghel, R. Srivastava, S. Raj, D. Sanghi. 1885T Genetic polymorphisms in ESR1 and ESR2 genes and risk of hypospadias in a multi-ethnic study population. S. Choudhry, E. J. Lammer, J. S. Witte, S. Dasgupta, C. Ma, G. M. Shaw, L. S. Baskin, S. L. Carmichael. 1886F A missense mutation in exon 2 of adiponectin receptor 2 is associated with serum insulin in overweight and obese African-American subjects. A. Doumatey, G. Chen, J. Zhou, H. Huang, A. Adeyemo, C. Rotimi. 1887W Common variants associated with normal tension glaucoma and optic nerve degeneration are also associated with glaucoma in exfoliation syndrome. B. Fan, S. Loomis, J. H. Kang, D. Y. Wang, B. Yaspan, M. A. Hauser, L. R. Pasquale, J. L. Haines, J. L. Wiggs. 1888T Genetic variants in selenoprotein P plasma 1 gene (SEPP1) are associated with fasting insulin and first phase insulin response in Hispanics. J. N. Hellwege, N. D. Palmer, J. T. Ziegler, C. D. Langefeld, C. Lorenzo, J. M. Norris, T. Takamura, D. W. Bowden. 1889F Replication of GWAS meta-analysis associations in a large Amish pedigree support VWF, ABO, STXBP5, STAB2, and SCARA5 as modifiers of VWF and FVIII levels. J. Hinckley, K. Wang, T. Burns, L. Law, A. Shapiro, J. Di Paola. 1890W Mutation analysis in zinc finger protein isoform 1 (ZNF644) in cases with moderate and high myopia. N. Kaur, S. Saini, V. Vanita. 1891T To study the association of peroxisome proliferator-activated receptor gamma (PPARG) gene polymorphism (p.pro12ala) with diabetic retinopathy. R. Kaur, S. Goyal, V. Vanita. 1892F Association of the IL17 gene polymorphisms with lumbar disc disease. A. Kelempisioti, I. Daavittila, N. Noponen, S. Barral, J. Ott, J. Niinimaki, T. Koskelainen, L. Ala-Koko, J. Karppinen, M. Männikkö. 1893W Association and interaction of polymorphisms in angiogenic genes with endometriosis. M. M. Latha, Q. Hasan, V. L. Kodati. 1894T The HLA-DPB1 and DRB1 genes are synergistically associated with Graves disease in Han Chinese children. Y. Lee, C. Huang, W. Ting, F. Lo, T. Chang, C. Chu, Y. Wu, S. Chang, W. Lin, M. Lin. 1895F Fine-mapping within regions of admixture linkage to sarcoidosis risk in African Americans. A. M. Levin, P. McKeigue, I. Datta, C. G. Montgomery, I. Adrianto, M. Colombo, M. C. Iannuzzi, B. A. Rybicki. POSTER SESSIONS 1884W Preeclampsia is associated with variation in endoglin pathway genes. M. J. Bell, J. M. Roberts, S. A. Founds, A. Jeyabalan, L. Terhorst, Y. P. Conley. 1896W Fine-mapping of central adiposity loci using association results from multi-ethnic populations. C. Liu, CHARGE, GIANT, CARe, and African American Central Adiposity Consortia. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

190 188 POSTER SESSIONS 1897T Investigation of genetic variation in scavenger receptor class B, member 1 (SCARB1) and association with serum carotenoids. G. J. McKay, E. Loane, J. M. Nolan, S. Beatty, G. Silvestri. 1898F Genetic analysis of FUS/TLS gene in essential tremor. K. Mirzozoda, N. Parmalee, S. Kisselev, N. Merner, P. Dion, G. Rouleau, E. D. Louis, L. Clark. 1899W Genetic and functional data implicates BCHE as a novel vitiligo candidate gene. L. Nascimento, C. Castro, V. Fava, R. Werneck, M. Mira. 1900T Targeted deep-resequencing of the CLDN1 gene in African Americans for asthma. N. M. Rafaels, L. Huang, C. Vergara, R. Lewis, L. Gao, I. Ruczinski, T. H. Beaty, A. De Benedetto, L. A. Beck, R. A. Mathias, K. C. Barnes. 1901F Targeted resequencing of SLE susceptible loci. E. Rai, B. Wakeland, C. Liang, P. Raj, K. Viswanathan, D. Karp, N. Olsen, I. Dozmorov, L. Davis, P. Doshi, Q. Z. Li, G. Wiley, K. Kaufman, J. A. Kelly, J. Harley, P. Gaffney, E. K. Wakeland. 1902W Study of BMP4 gene in a Brazilian sample with congenital anomalies of kidney and urinary tract. G. S. Reis, A. C. S. Silva, T. R. Heilbuth, I. S. Freitas, L. A. de Marco, D. M. Miranda. 1903T Detection of 4 new mutations related to oral clefts by direct sequencing. M. Simioni, T. K. de Araujo, R. G. Faria, C. V. Maurer-Morelli, V. L. Gil-da-Silva-Lopes. 1904F Meta-analysis demonstrates that an interleukin-6 polymorphism is protective against preterm birth in women of European descent. W. Wu, E. Clark, G. Stoddard, S. Esplin, T. Manuck, J. Xing, M. Varner, L. Jorde. 1905W Gender-specific association of the interleukin 18 gene with gallstone disease. H. Yang, S. Shih, T. Chang, H. Wang, K. Hu, C. Chang, C. Chang, C. Hung, H. Chan, M. Lin, Y. Lee. 1906T Search for new modifiers of disease severity in Jamaican sickle cell disease patients using wholeexome DNA sequencing. G. Lettre, G. Galarneau, M. Beaudoin, K. S. Lo, M. Reid, G. Serjeant, I. R. Hambleton, J. N. Hirschhorn, C. A. McKenzie. 1907F Complex trait alleles are enriched for cellspecific chromatin marks. S. Raychaudhuri, G. Trynka, H. Xu, B. E. Stranger, X. S. Liu. 1908W A regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate. J. Hecht, N. Cvjetkovic, L. Maili, A. M. Letra, M. Raia, E. C. Swindell, J. F. Teichgraeber. 1909T Next-generation sequencing of unresolved Meckel syndrome pedigrees reveals a complex genetic makeup. K. Hopp, C. M. Heyer, J. L. Sundsbak, S. J. Koon, V. J. Kubly, V. E. Torres, P. C. Harris. 1910F Role of the PRICKLE genes in neural tube defects in humans. R. Allache, V. Capra, M. Q. Wang, C. M. Bosoi, P. Drapeau, A. G. Bassuk, Z. Kibar. 1911W Investigation of complex copy number polymorphisms and age-related macular degeneration. S. Cantsilieris, S. White, R. Guymer, P. Baird. 1912T Identification of a pleiotropic effect locus associated with a composite CVD risk trait in the genetic isolate of Norfolk Island. L. R. Griffiths, M. Benton, H. Cox, C. Bellis, M. Carless, M. Hanna, D. Eccles, J. Blangero, R. A. Lea. 1913F Association of BMI and waist-related genetic variants with visceral adipose tissue volume in the Family Heart Study. A. Justice, M. Graff, N. Franceschini, A. P. Reiner, M. F. Feitosa, J. J. Carr, J. G. Terry, P. Gordon- Larsen, M. K. Wojczynski, I. B. Borecki, K. E. North. 1914W Follow up analyses of the APOL1/MYH9 locus and non-diabetic end stage renal disease (non-dm ESRD) in African Americans: The FIND Consortium. M. Li, FIND Consortium. 1915T HLA typing of a large type 1 diabetes cohort using SNP genotyping of the extended MHC. J. Bradfield, D. S. Monos, H. Q. Qu, C. Kim, M. Rossman, K. D. Rosenman, S. F. A. Grant, C. Polychronakos, H. Hakonarson. 1916F Systematic evaluation of validated type 2 diabetes and glycemic trait loci for association with insulin clearance. M. O. Goodarzi, X. Guo, J. Cui, M. R. Jones, T. Haritunians, A. H. Xiang, Y. I. Chen, K. D. Taylor, T. A. Buchanan, W. A. Hsueh, L. J. Raffel, J. I. Rotter. 1917W Whole genome sequencing to identify functional variants that contribute to type 2 diabetes and obesity in Pima Indians. K. Huang, C. Bogardus, L. Baier. 1918T Tracking elusive modifier loci using identity-bydescent and influential alleles. E. Marchani, E. Wisjman. 1919F Genetic dissection of Chiari type I malformation using stratified whole genome linkage approaches. C. Markunas, K. Soldano, K. Dunlap, H. Cope, E. Asiimwe, J. Stajich, D. Enterline, G. Grant, H. Fuchs, S. Gregory, A. Ashley-Koch. 1920W Heritability and linkage analysis of the scale of aging vigor in epidemiology in the Long Life Family Study. J. L. Sanders, J. Singh, R. L. Minster, C. M. Kammerer, M. M. Barmada, E. W. Daw, M. Feitosa, R. Costa, N. Schupf, J. Walston, A. B. Newman. 1921T Genome-wide linkage analyses of hematological phenotypes in Long Life Family Study. J. Singh, R. L. Minster, M. M. Barmada, E. W. Daw, B. Thyagarajan, K. Christensen, A. B. Newman, C. M. Kammerer. 1922F Effect of DNA polymorphisms of apolipoprotein B gene on lipid homeostasis in obese Egyptians. G. El- Kannishy, R. Elbaz, A. Wafa, H. AbdElHafez, A. Settin. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

191 POSTER SESSIONS W Identification of genes influencing serum levels of brain-derived neurotrophic factor in large Mexican American pedigrees. M. A. Almeida, J. M. Peralta, J. W. Kent, J. E. Curran, T. D. Dyer, G. Juan, T. M. Teslovich, C. Fuchsberger, A. R. Wood, T. M. Frayling, P. Cingolani, T. W. Blackwell, R. Sladek, G. Atzmon, J. Laramie, S. Lincoln, D. M. Lehman, G. Abecasis, L. A. Almasy, R. Duggirala, D. C. Glahn, J. Blangero. 1924T First genome-wide analysis in pediatric multiple sclerosis (MS) confirms a role for adult MS risk variants and reveals new candidates. L. F. Barcellos, J. R. Oksenberg, E. Elboudwarej, H. Quach, F. Briggs, A. Belman, A. Chokkalingam, P. A. Buffler, L. Krupp, E. Waubant. 1925F Metabochip analysis in over 12,000 African Americans identifies several variants associated with metabolic syndrome: Results from the Population Architecture using Genomics and Epidemiology (PAGE) Study. C. L. Carty, J. Haessler, I. Cheng, V. Aroda, T. Thornton-Wells, C. N. Hsu, S. Liu, R. Jackson, C. Carlson, L. A. Hindorff, L. LeMarchand, J. S. Pankow, U. Peters, K. E. North, C. Kooperberg. 1933T Genetic variation in vitamin D pathway genes impacts serum vitamin D deficiency and cardiometabolic traits in individuals with and without type 2 diabetes. T. R. Braun, L. F. Been, P. R. Blackett, D. K. Sanghera. 1934F Coding variants at a single multiallelic amino acid position of a HLA class II gene influence follicular lymphoma risk in Europeans and Asians. J. N. Foo, K. E. Smedby, P. I. W. de Bakker, I. D. Irwan, H. Darabi, X. Jia, L. Padyukov, D. E. K. Tan, H. Hjalgrim, A. Seow, K. Humphreys, J. J. Liu. 1935W Common polymorphisms of dopamine D2 receptor (DRD2) gene are not associated with adolescent obesity, but with hyperinsulinemia. N. Col Araz, M. Nacak, S. Oguzkan Balci, N. Benlier, S. Pehlivan, A. Balat, M. Araz. 1936T Association analysis of chromosome 3q markers in nonsyndromic cleft lip/palate. A. Letra, M. Cooper, T. McHenry, E. Czeizel, F. W. B. Deleyiannis, L. Ma, E. E. Castilla, F. Poletta, L. L. Field, A. R. Vieira, R. M. Silva, M. L. Marazita. POSTER SESSIONS 1926W Power of population diversity and positive selection in probing the biology of asthma disparities. G. Dunston, T. Mason, L. Ricks-Santi. 1927T Conditional analysis identifies three novel major histocompatibility complex loci associated with psoriasis. J. Knight, S. L. Spain, F. Capon, J. N. Barker, M. E. Weale, R. C. Trembath, WTCCC2, Genetic Analysis of Psoriasis Consortium, I-chip for Psoriasis Consortium. 1928F Prevalence of MYH9 common variants associated with non-diabetic end-stage renal disease and chronic kidney disease in the diverse National Health and Nutrition Examination Surveys as part of the Epidemiologic Architecture for Genes Linked to Environment (EAGLE). S. Wilson, K. Brown-Gentry, N. Gillani, H. Jin, B. McClellan, J. Boston, C. Sutcliffe, H. Dilks, D. Crawford. 1929W Both classical and non-classical human leukocyte antigen (HLA) loci in the HLA region contribute to Graves disease susceptibility. P. Chen, W. Yang, T. Chang. 1930T Fine mapping on chromosome 10q24.2 implicates ADD3 in biliary atresia. M.-M. Garcia-Barceló, G. Cheng, C. S. M. Tang, X. L. Liu, R.Z. Zhang, M. T. So, E. H. M. Wong, P. H. Y. Chung, I. H. Y. Chan, J. Liu, W. Zhong, H. Xia, J. Yu, K. K. Y. Wong, S. S. Cherny, P. C. Sham, P. K. H. Tam. 1931F Whole exome sequencing and subsequent association studies reveals novel candidate variants associated with severe types of alopecia areata. S. Lee, C. Park, O.-S. Kwon, J.-I. Kim, J. S. Seo. 1932W Next-generation sequencing of 11 targeted genes show serum urate levels and gout age of onset are influenced by both rare and common variants. A. Tin, L. C. Shimmin, A. Kottgen, E. Boerwinkle, J. Coresh, J. E. Hixson, W. H. Kao. 1937F Genotype-phenotype correlations of facial shape and asymmetry in unaffected relatives of children with non-syndromic cleft lip/palate and controls. S. Miller, N. Nidey, S. Weinberg, M. L. Marazita, J. C. Murray, G. L. Wehby, L. M. Moreno. 1938W Cannabinoid receptor-1 (CNR-1) gene 1359G/A polymorphism is related with childhood obesity, but not with insulin resistance. M. Nacak, N. Col Araz, S. Oguzkan Balci, N. Benlier, S. Pehlivan, A. Balat, M. Araz. 1939T Altered expression but no genetic association of the epidermal transglutaminases in atopic dermatitis. M. C. G. Winge, A. Lieden, A. Sääf, I. Kockum, E. Ekelund, E. Rodriguez, T. Hoppe, R. Fölster-Holst, A. Franke, M. Tengvall-Linder, H. Baurecht, S. Weidinger, C. F. Wahlgren, M. Nordenskjöld, M. Bradley. 1940F Genetic variation and epigenetic modification of TACR1 gene are associated with postoperative nausea and vomiting in surgical patients. T. Hayase, S. Sugino, M. Yamakage. 1941W Identification of a novel 1p31 locus associated with the combined asthma plus allergic rhinitis phenotype through positional cloning in asthma-ascertained families. M.-H. Dizier, P. Margaritte-Jeannin, A.-M. Madore, I. Annesi-Maesano, J. Just, F. Kauffmann, C. Laprise, M. Lathrop, E. Bouzigon, F. Demenais. 1942T Dense genotyping of six atopic dermatitis and 180 autoimmune risk loci in 2,425 atopic dermatitis patients. D. Ellinghaus, E. Rodríguez, H. Baurecht, J. Esparza Gordillo, Y.-A. Lee, S. Cichon, C. Gieger, H.-E. Wichmann, R. Duerr, C. Büning, S. Brand, S. Schreiber, S. Weidinger, A. Franke. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

192 190 POSTER SESSIONS 1943F Identification of functional variants in FOXO3A, a confirmed candidate gene influencing human longevity: Genetic investigation requires special attention to sequence homology with FOXO3B. F. Flachsbart, L. Gentschew, C. Däumer, N. Badarinarayan, A. Caliebe, M. Krawczak, S. Schreiber, A. Nebel. 1944W PDGFRa mutations in humans with isolated cleft palate. V. Shotelersuk, S. Rattanasopha, S. Tongkobpetch, C. Srichomthong, P. Siriwan, K. Suphapeetiporn. 1945T Copy-number variation in chromosome 5q31-33 is associated with Graves disease susceptibility. X. Chu, M. Shen, Y. Bai, F. Xie, W. Huang. 1946F Genetic analysis of HLA-G gene: Association study in a Brazilian cohort relating the 14bp indel frequencies in a psoriasis case/control study. G. Debortoli, B. S. Almeida, A. Firmino, D. H. Nunes, M. M. Sens, V. P. M. da Silva, A. R. Marrero, Y. C. N. Muniz, I. R. Souza. 1947W Lung eqtl in the major histocompatibility complex. M. Lamontagne, C. Couture, M. Laviolette, Y. Bossé, Merck-Laval-UBC-Groningen Lung eqtl Consortium. 1948T Rare TLR pathways gene variants and susceptibility to invasive pneumococcal disease: A population-based study. K. S. Elliott, M. K. Ellis, A. Rautanen, M. A. Rivas, D. W. Crook, A. V. S. Hill, S. J. Chapman. 1949F Association of VPS26 variants with susceptibility to infection by Leishmania in Brazil, Iran and Sudan. A. Romano, H. Dessein, A. Muller, F. Santoro, A. Salhi, S. Rafati, S. El Saafi, J. P. Gorvel, L. Argiro, A. Dessein. 1950W MTHFR 677 C.T polymorphism does not influence the risk of polycystic ovarian syndrome. S. Rajender, J. Carlus, K. Singh, K. Thangaraj. 1951T Mapping of a novel locus modifying glaucoma severity within the GLC1K region at 20p12. P. Belleau, S. Dubois, K. Lebel, R. Arseneault, E. Shink, J. L. Anctil, G. Côté, M. A. Walter, M. Amyot, V. Raymond. 1952F Fine-mapping of eight psoriasis susceptibility loci. S. Das, P. E. Stuart, J. Ding, T. Tejasvi, Y. Li, L. C. Tsoi, V. Chandran, J. Fischer, C. Helms, K. C. Duffin, J. J. Voorhees, A. M. Bowcock, G. G. Krueger, G. M. Lathrop, R. P. Nair, P. Rahman, G. R. Abecasis, D. Gladman, J. T. Elder. 1953W Association of markers in DOCK6 with total cholesterol concentration in American Indians. J. K. DiStefano, M. Khosroheidari, E. Eddy, S. Kobes, W. C. Knowler, R. L. Hanson. 1954T Fine-scale genetic mapping reveals multiple signals of association in waist-hip ratio loci and shows evidence of sexually dimorphic genetic effects. T. Ferreira, D. Shungin, D. C. Croteau-Chonka, T. W. Winkler, A. E. Locke, R. Mägi, R. J. Strawbridge, T. Workalemahu, K. Fischer, J. Wu, A. U. Jackson, F. Day, M. C. Zillikens, A. E. Justice, H. Völzke, I. Barrsos, C. S. Fox, E. Ingelsson, M. I. McCarthy, E. K. Speliotes, P. W. Franks, L. Qi, J. N. Hirschhorn, R. J. F. Loos, K. E. North, I. M. Heid, L. A. Cupples, A. P. Morris, K. L. Mohlke, C. M. Lindgren on behalf of Genetic Investigation of ANthropometric Traits (GIANT) Consortium. 1955F The FTO gene polymorphisms are associated with obesity in the Chinese population: The SAPPHIRe follow-up study. C.-M. Hwu, M.-W. Lin, P.-T. Tsai, C.-A. Hsiung, L.-M. Chuang, W. H.-H. Sheu, Y.-R. Hung, L.-T. Ho. 1956W Consanguinity in Pakistani families reveals new loci in a complex genetic trait: Stuttering. M. H. Raza, R. Amjad, S. Riazuddin, D. Drayna. 1957T Genome-wide linkage scan of male sexual orientation. A. R. Sanders, K. Dawood, G. Rieger, J. A. Badner, E. S. Gershon, R. S. Krishnappa, A. B. Kolundzija, S. Guo, G. W. Beecham, E. R. Martin, J. M. Bailey. 1958F Linkage studies in a large stuttering family indicate multiple novel loci and possible assortative mating. A. A. Schaffer, M. H. Raza, E. M. Gertz, J. Mundorff, J. Lukong, J. Kuster, D. Drayna. 1959W Fine mapping of 6q27 for association with blood pressure. B. Tayo, B. Salako, A. Luke, X. Zhu, A. Adeyemo, C. Rotimi, A. Ogunniyi, R. Cooper. 1960T Efficient pooled sequencing of 1,077 candidate genes in individuals with short stature. S. R. Wang, D. B. Mirel, A. Dauber, J. N. Hirschhorn. 1961F Molecular analysis of common tag polymorphisms in hemochromatosis (HFE) genes in Iranian patients affected with PCOS. S. Matoo, A. Yasari Mazandarani, N. Hatamnejadian, B. Sedaghati Khayat, M. Moghaddam, A. Ebrahimi. 1962W Molecular analysis of hepcidin common polymorphisms in Iranian patients affected with PCOS. A. Yasari Mazandarani, S. Matoo, N. Hatamnejadian, B. Sedaghati Khayat, M. Moghaddam, A. Ebrahimi. 1963T Mitochondrial haplogroups and age-related maculopathy. Y. P. Conley, Y. Jiang, M. C. Kenney, N. Udar, R. E. Ferrell, D. E. Weeks, M. B. Gorin. 1964F Candidate genes as a modifier of age at Huntington disease motor onset. E. M. Ramos, J. Latourelle, J.-H. Lee, T. Gillis, J. S. Mysore, J. F. Gusella, J.-M. Lee, I. Alonso, J. Sequeiros, R. H. Myers, M. E. MacDonald. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

193 POSTER SESSIONS W Variations in potassium channel genes are associated with persistent breast pain after breast cancer surgery. D. J. Langford, B. McCann, T. Koetters, C. Baggott, C. West, J. D. Levine, C. Elboim, G. Abrams, D. Hamolsky, L. Dunn, H. Rugo, M. Dodd, S. M. Paul, J. Neuhaus, B. A. Cooper, B. Schmidt, J. Cataldo, A. Dhruva, B. E. Aouizerat. 1966T HLA haplotypes influence hearing in old age. T. Solomon, D. L. Newman. 1967F A Y chromosome association study in inflammatory bowel disease. L. Jostins, C. A. Anderson, J. C. Barrett, International IBD Genetics Consortium. 1968W Prevalence of alpha-1 antitrypsin deficiency and hereditary hemochromatosis gene mutations in Algarve, Portugal. V. Gaio, A. Fernandes, F. Mendonça, F. Orta Correia, A. Beleza, A. Gil, M. Bourbon, A. M. Vicente, C. M. Dias, M. Barreto da Silva. 1969T Menarche timing-related variants identified by recent GWAS are associated with growth outcomes in male and female children. C. He, E. Wagner, G. Eckert, Z. Yu, H. Pratt, W. Tu. 1970F Haplotypes of the inducible nitric oxide synthase gene are strongly associated with levels of exhaled nitric oxide in adults: A population-based study. S. Dahgam, L. Modig, A. T. Naluai, A. C. Olin, F. Nyberg. 1971W Identification of genetic factors for chronic otitis media with effusion using a targeted resequencing approach. E. Allen, J. Mychaleckyj, X. Hou, W. Chen, A. Quinlan, K. Keene, S. Rich, K. Daly, M. Sale. 1972T Genetic polymorphisms of long pentraxin-3 are associated with polypoidal choroidal vasculopathy and exudative age-related macular degeneration. J. H. Chen, Y. Yang, Y. Zheng, C. Xu, W. Chen, M. Zhang, H. Chen, C. P. Pang. 1977W Sequencing of IL10 in Behçet s disease patients. I. Sousa, J. M. Xavier, N. Rei, F. Barcelos, P. Abrantes, J. Vedes, G. Jesus, M. Salgado, F. Fontes, J. V. Patto, J. Crespo, S. A. Oliveira. 1978T Variants of XBP1 are associated with vitiligo in the presence of autoimmunity. R. G. Tarlé, L. M. Nascimento, C. C. S. De Castro, R. I. Werneck, V. M. Fava, M. T. Mira. 1979F Genetic association of SLE with CD247 (CD3z). M. Martins, A. H. Williams, M. E. Alarcón-Riquelme, J. M. Anaya, S. C. Bae, S. A. Boackle, L. A. Criswell, G. S. Gilkeson, D. L. Kamen, C. O. Jacob, J. A. James, J. A. Kelly, K. L. Moser, R. H. Scofield, R. P. Kimberly, J. C. Edberg, L. M. Vila, M. Petri, R. Ramsey-Goldman, M. E. Comeau, J. Ziegler, M. C. Marion, J. T. Merrill, T. B. Niewold, B. P. Tsao, B. I. Freedman, S. B. Glenn, J. B. Harley, C. D. Langefeld, C. Fesel. 1980W Estrogen receptor beta genetic variants are associated with intraocular pressure elevation in women. F. Mabuchi, Y. Sakurada, K. Kashiwagi, Z. Yamagata, H. Iijima, S. Tsukahara. 1981T Expression of alternatively spliced transcripts of MAP2K4 gene in rheumatoid arthritis. K. Shchetynsky, M. Ronninger, L. Padyukov. 1982F RNA-seq survey of human lymphoid and myeloid cells: A resource for identifying causal genes in validated immune-mediated disease loci. S. Foisy, C. Beauchamp, A. Alikashani, F. Latour, M. Ladouceur, S. Lessage, J. D. Rioux. 1983W Preliminary data suggest an upstream IRX1 sequence variant identified in a family with kyphoscoliosis disrupts the wild-type expression pattern in zebrafish. C. M. Justice, K. Bishop, B. Carrington, P. Cruz, K. Swindle, R. Sood, N. H. Miller, A. F. Wilson, NISC Comparative Sequencing Program. POSTER SESSIONS 1973F Contribution of the reading disability risk locus DYX2 and dopamine signaling factors ANKK1/DRD2 to language impairment and brain imaging phenotypes. J. D. Eicher, N. R. Powers, L. L. Miller, K. L. Mueller, J. B. Tomblin, S. M. Ring, J. R. Gruen, Pediatric Imaging Neurocognition Genetics Study. 1974W The maternal folate hydrolase gene polymorphism is associated with neural tube defects in a high-risk Chinese population. J. Guo, J. H. Wang, H. Xie, H. Z. Zhao, F. Wang, C. Liu, L. Wang, X. L. Lu, Y. H. Bao, J. Z. Zou, G. L. Wang, B. Niu, T. Zhang. 1975T Association study of NPR3 polymorphisms with aspirin exacerbated respiratory disease. J. H. Kim, B. L. Park, C. S. Park, H. D. Shin. 1976F Identification of DNA variants in 11 candidate genes for developmental dyslexia by next-generation sequencing. H. Matsson, E. Tiraboschi, M. Huss, J. Noppola-Hemmi, H. Lyytinen, P. H. T. Leppanen, N. Neuhoff, A. Warnke, G. Schulte-Körne, M. M. Nöthen, J. Schumacher, M. Peyrard-Janvid, J. Kere. 1984T Phenotypic analysis of peptidylarginine deiminase type 4 knockout mice. A. Suzuki, Y. Kochi, H. Shoda, K. Fujio, E. Kanno, T. Sawada, R. Yamada, K. Yamamoto. 1985F Rs PGRN gene variation a possible modifier in frontotemporal lobar degeneration. E. Vitale, A. Iuliano, A. Polverino, V. Agosti, C. Vitale, A. Postiglione, P. Sorrentino, S. Pappatà, G. Milan, G. Sorrentino. 1986W Proteomic analysis of Shank3 overexpression in mouse neuroblastoma cultures showed differentially expressed proteins involved in glycolysis, cytoskeleton,biosynthetic and cell cycle processes, and ubiquitin-proteasome. N. Zhong, W. Ju, W. Yan, X.-L. Zhao, E. C. Jenkins, W. T. Brown, Y. Wang, J. H. Zhou. 1987T Transcription factor profile of a single nucleotide polymorphism located -224 A/G in neuropeptide receptor Y2 (NPY2R) gene in predisposition to hypertension. E. Albino, K. Sugimoto, T. Katsuya, A. Deng, J. Dutil. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

194 192 POSTER SESSIONS 1988F Functional assessment of CRY2 type II diabetes variants using a targeted circadian luciferase assay. J. Lane, A. Tare, C. Cowan, R. Saxena. 1989W Modification of endothelial progenitor cell recruitment by tyrosinase in oxygen-induced retinopathy. B. E. O Bryhim, R. S. White, R. C. A. Symons. 1990T Understanding the impact of body mass index and associated SNPs on serum metabolites. J. Kumar, R. Karlsson, J. Prince, M. Hong, C. Broeckling, J. Prenni, E. Ingelsson, F. Wiklund. 1991F Biological processes of human development and genome-wide linkage disequilibrium. I. Culminskaya, A. Kulminski, A. Yashin. 1992W The type 1 diabetes gene CLEC16A functions in NK cells to restrain secretory functions including cytokine release and cytotoxicity. M. Bakay, R. Pandey, A. Mohamed-Hadley, P. Banerjee, H. H. Hakonarson. 1993T Influence of ethnicity with type 2 diabetes in association of UCP2-866G/A, PGC1a (Gly 482 Ser) and SIRT1-1400T/C polymorphisms in North Indian Punjabi population groups. A. Bhanwer, N. Kaul, R. N. K. Bamezai. 1994F Allelic variation in the protein stability of HLA shapes genetic association of HLA with type 1 diabetes. H. Miyadera, J. Ohashi, K. Tokunaga. 1995W Functional characterization of gene regulatory elements associated with epilepsy. R. Y. Birnbaum, Y. Zhang, C. Wei, N. Ahituv. 1996T Differential behavior of splice isoforms of the asthma susceptibility gene DENND1B. M. E. March, P. M. A. Sleiman, C. Hou, J. Bradfield, C. E. Kim, E. Frackelton, J. T. Glessner, H. Hakonarson. 1997F Targeted resequencing identifies secretiondefective variants of decoy receptor 3 in pediatric-onset inflammatory bowel disease. C. J. Cardinale, S. Panossian, F. Wang, E. Frackelton, C. E. Kim, F. D. Mentch, R. M. Chiavacci, K. E. Kachelries, R. Pandey, S. F. A. Grant, R. N. Baldassano, H. Hakonarson. 1998W A population-based immunologic phenotype study for the identification of high risk individuals to childhood infectious diseases in Vietnam. R. Miyahara, L. M. Yoshida, H. Nakamura, K. Takahashi, X. M. Trinh, D. A. Dang, N. H. Tran, K. Ariyoshi, M. Yasunami. 1999T A birth-cohort study for the identification of genetic risk for childhood infectious diseases in Vietnam. M. Yasunami, L. M. Yoshida, R. Miyahara, H. Nakamura, K. Takahashi, H. Moriuchi, D. A. Dang, N. H. Tran, K. Ariyoshi. 2000F Variant genotypes of PKR1 and PKR2 in patients of recurrent pregnancy loss. M. Su, L. Wu, P. Kuo. 2001W Post GWAS analysis of the BCL11A intronic region to define its role in regulating HbF levels. F. Anedda, S. Sanna, I. Asunis, G. Usala, F. Danjou, L. Perseu, A. Cabriolu, C. A. Caria, L. Porcu, M. G. Marini, M. Marongiu, C. Sidore, R. Berutti, M. Pala, A. Angius, F. Busonero, A. Maschio, S. Satta, F. Demartis, L. Maccioni, A. Meloni, R. Nagaraja, G. Abecasis, D. Schlessinger, M. S. Ristaldi, R. Galanello, P. Moi, F. Cucca, S. Sanna, M. Uda. 2002T Additional patients and an association study support a role of SOX9 in CD-ACD-PRS phenotypic continuum and in CPO. M. Quentric, L. Desmyter, M. Ghassibe, W. Courtens, S. Kivirikko, H. Antoine-Poirel, G. Ameye, B. Bayet, G. Francois, R. Vanwijck, O. Boute, P. Pellerin, M. Rubini, M. Vikkula. 2003F The impact of amino acid polymorphisms in four genes of the tumor necrosis factor (TNF) and interferon-gamma pathways on BCG-triggered production of TNF. T. Yu, L. de Léséleuc, A. Cobat, L. Simkin, G. F. Black, K. Stanley, P. van Helden, L. Abel, A. AlcaÔs, E. G. Hoal, E. Schurr. 2004W Functional variants of NFKBIE and RTKN2 genes are associated with rheumatoid arthritis susceptibility in Japanese. K. Myouzen, Y. Kochi, Y. Okada, C. Terao, A. Suzuki, K. Ikari, T. Tsunoda, A. Takahashi, M. Kubo, A. Taniguchi, F. Matsuda, K. Ohmura, S. Momohara, T. Mimori, H. Yamanaka, N. Kamatani, R. Yamada, Y. Nakamura, K. Yamamoto. 2005T Resequencing ITGAM reveals two functionally deleterious rare variants in systemic lupus erythematosus cases. A. L. Roberts, E. R. A. Thomas, S. Bhosle, L. Game, O. Obraztsova, T. J. Aitman, T. J. Vyse, B. Rhodes. 2006F DcR3 mutations in systemic lupus erythematosus patients lead to enhanced lymphocyte proliferation. K. Suphapeetiporn, C. Chokdeemeeboon, P. Ammarinthnukrowh, S. Tongkobpetch, C. Srichomthong, T. Deekajorndech, P. Rianthavorn, P. Kingwattanakul, Y. Avihingsanon, V. Hoven, S. Edwards, N. Hirankarn, V. Shotelersuk. 2007W A CD14 promoter polymorphism is implicated in tuberculosis susceptibility in a South African population. M. Möller, C. Wagman, M. Daya, C. Kok, L. van der Merwe, P. D. van Helden, E. G. Hoal. 2008T Effects of IL9 and IL9 receptor gene polymorphisms on allergic rhinitis in Iranian females. F. Fatahi, H. Khazraee, K. Ghatreh, M. Hashemzadeh. 2009F TRIB1 is involved in the susceptibility of nonalcoholic fatty liver disease. S. Iwamoto, Y. Ishizuka, Y. Kitamura, S. Makishima, S. Boonvisut, K. Nakayama. 2010W Alleles of a rapidly-evolving ETV6 binding site in DCDC2 confer risk of reading and language impairment. N. R. Powers, J. D. Eicher, F. Butter, L. L. Miller, S. M. Ring, M. Mann, J. R. Gruen. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

195 POSTER SESSIONS T Polymorphisms in phosphatidylethanolamine N-methyltransferase (PEMT) gene associates with obesity and gene expression. S. K. Das, K. A. Langberg, A. K. Mondal, N. K. Sharma. 2012F Identification of a cis regulatory variant that binds a transcriptional repressor complex including PDX1 at the JAZF1 type 2 diabetes locus. M. P. Fogarty, T. M. Panhuis, S. Vadlamudi, M. L. Buchkovich, K. L. Mohlke. 2013W Investigation of mtdna mutations in nonsyndromic hearing loss patients in Fars Province, Iran, using PCR- RFLP procedure. S. Heydari Sodejani, M. Montazer Zohori, E. Farokhi, A. Shirmardi, G. Banitalebi, S. Reisi, M. Abolhasani, M. Akbari, M. Hashemzadeh. 2023T Association study of FUT2 (rs601338) with celiac disease and inflammatory bowel disease in the Finnish population. A. S. Parmar, N. Alakulppi, P. Paavola- Sakki, K. Kurppa, L. Halme, M. Färkkilä, U. Turunen, M. Lappalainen, K. Kontula, K. Kaukinen, M. Mäki, K. Lindfors, J. Partanen, P. Sistonen, J. Mättö, P. Wacklin, P. Saavalainen, E. Einarsdottir. 2024F Identifying novel gene-environment interactions for HDL-cholesterol. L. Parnell, K. Richardson, C. Q. Lai, J. M. Ordovas. 2025W Genetically-determined differences in arsenic metabolism efficiency influence risk for arsenic-induced skin lesions: A Mendelian randomization study. B. Pierce, L. Tong, M. Argos, F. Jasmine, M. Kibriya, H. Ahsan. POSTER SESSIONS 2014T Genetic and environmental predictors of serum vitamin D3 levels in African Americans. R. A. Kittles, K. Batai, E. Shah, M. Ruden, J. Newsome, S. Agate, A. Murphy, H. Y. Chen. 2015F Vitamin D receptor ChIP-seq in human CD 41 T-cells and association with multiple sclerosis. A. Handel, G. Disanto, G. Giovannoni, G. Ebers, S. Ramagopalan. 2016W Gene-gene interaction in disease association for systemic lupus erythematosus in Asian populations. J. Yang, Y. Zhang, X. Zhang, Y. Lau, W. Yang. 2017T Prevalence of diabetes-associated gene variants and its association with blood glucose levels in the Algarve population, Portugal. M. Barreto da Silva, V. Gaio, A. Fernandes, F. Mendonça, F. Orta Gomes, A. Beleza, A. Gil, M. Bourbon, A. M. Vicente, C. M. Dias. 2018F Genome-wide methylation analysis of DNA from offspring exposed to a diabetic intrauterine environment. M. del Rosario, R. L. Hanson, V. Ossowsky, W. C. Knowler, C. Bogardus, L. J. Baier. 2019W HNF1a and ABCA1 genes polymorphisms in gestational diabetes mellitus. E. Zamarron-Licona, M. C. Martinez-Lopez, R. Diaz-Martinez. 2020T External sources of vitamin D modify the effects of the GC and CYP2R1 genes on 25-hydroxyvitamin D concentrations: CAREDS. C. D. Engelman, K. J. Meyers, S. K. Iyengar, Z. Liu, C. Karki, R. P. Igo, Jr., B. Truitt, J. Robinson, G. E. Sarto, R. Wallace, L. Tinker, E. LeBlanc, Y. Song, J. A. Mares, A. E. Millen. 2021F Mapping variation in the response to vitamin D in peripheral blood. C. Jeong, J. C. Maranville, S. Baxter, A. Di Rienzo. 2022W The interaction between adolescent parental knowledge and genetic risk for alcohol dependence predicts adult alcohol dependence. J. L. Meyers, J. E. Salvatore, R. J. Rose, J. Kaprio, D. M. Dick. 2026T The ubiquitin proteasome system: Geneenvironment interactions in Parkinson’s disease. S. Rhodes, B. Ritz. 2027F Genetic trade-offs may explain some paradoxes of genetics of human longevity. S. Ukraintseva, K. Arbeev, A. Kulminski, I. Akushevich, D. Wu, A. Yashin. 2028W Interaction analysis of exogenous estrogen in age-related macular degeneration: New gene-based 2-degree-of-freedom joint test finds joint effects within the VEGF signaling pathway. M. D. Courtenay, W. H. Cade, P. L. Whitehead, S. G. Schwartz, J. L. Kovach, G. Wang, A. Agarwal, J. L. Haines, M. A. Pericak-Vance, W. K. Scott. 2029T Heritability and host SNP associations of microbial species in the human gut. J. K. Goodrich, R. Blekhman, J. T. Bell, T. D. Spector, A. G. Clark, R. E. Ley. 2030F SNPs for BMI demonstrate consistent results through the lifecourse. N. Heard-Costa, L. D. Atwood, C. Jaquish, C. T. Liu, L. A. Cupples, C. S. Fox. 2031W Examining the roles of diet, age, and sex on the composition of the human fecal microbiome. E. R. Davenport, O. Mizrahi-Man, L. B. Barreiro, C. Ober, Y. Gilad. 2032T Gene-to-gene interaction in the development of gout. A. Taniguchi, W. Urano, N. Ichikawa, H. Yamanaka. 2033F The genetic basis of preeclampsia in populations adapted to high altitude. P. Ortiz-Tello, K. Sandoval Mendoza, V. Villanueva Dávalos, A. Moreno Estrada, J. Manzaneda, F. Manzaneda, A. McKenney, L. Enriquez Lencinas, C. Bustamante, J. Baker. 2034W The effect of race, sex, age, socioeconomic, behavioral factors, and genetics on dental caries in different tooth surfaces. D. Lewis, E. Feingold, Z. Zeng, J. Shaffer, X. Wang, R. Weyant, D. W. McNeil, M. Marazita. 2035T Telomere length in human blood cells and the prediction of survival. J. Deelen, M. Beekman, V. Codd, H. E. D. Suchiman, A. J. M. de Craen, N. J. Samani, J. J. Houwing-Duistermaat, P. E. Slagboom. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

196 194 POSTER SESSIONS 2036F Early life infection associated with shorter adult blood telomere lengths in Cebu, the Philippines. D. T. A. Eisenberg, J. Borja, M. G. Hayes, C. W. Kuzawa. 2037W Characterization and generalization of HFE rs genotype-phenotype relationships in the diverse National Health and Nutrition Examination Surveys as part of the Epidemiologic Architecture for Genes Linked to Environment. K. Brown-Gentry, B. Niloufar, J. Hailing, B. McClellan, J. Boston, C. Sutcliffe, H. Dilks, D. Crawford. 2038T Analysis of established type 2 diabetes associated variants in American Indians. R. Hanson, S. Kobes, W. Knower, C. Bogardus, L. Baier. 2039F Describing the contribution of multiple sclerosis genetic risk factors in Sardinian multiple sclerosis cases. A. Hadjixenofontos, L. Foco, V. Bakthavachalam, P.-A. Gourraud, A. Ticca, P. Bitti, R. Pastorino, L. Bernardinelli, J. L. McCauley. 2040W Heritability and linkage analysis of the Health Aging Index in the Long Life Family Study. M. M. Barmada, J. L. Sanders, A. M. Matteini, K. Christensen, R. Mayeux, T. Perls, I. Borecki, Q. Zhang, A. B. Newman, Long Life Family Study. 2041T Genetic determinants of age-related macular degeneration in diverse populations: The Population Architecture using Genomics and Epidemiology Study. N. Restrepo, K. Spencer, R. Goodloe, T. Garrett, G. Heiss, P. Buzkova, N. Jørgensen, R. Jensen, T. Matise, B. Klein, R. Klein, W. Tien Yin, B. Cornes, E. Shyong Tai, M. Ritchie, J. Haines, D. Crawford. 2042F Genetic variation and age at natural menarche and menopause in African American women from the Population Architecture using Genomics and Epidemiology (PAGE) Study. J. Malinowski, K. L. Spencer, C. L. Carty, N. Franceschini, L. Fernández-Rhodes, A. Young, I. Cheng, M. D. Ritchie, C. A. Haiman, L. Wilkens, C. Wu, T. C. Matise, C. S. Carlson, K. Brennan, A. Park, A. Rajkovic, L. A. Hindorff, S. Buyske, D. C. Crawford. 2043W African ancestry is a risk factor for asthma and high total IgE levels in African admixed populations. C. I. Vergara, T. Murray, N. Rafaels, R. Lewis, M. Campbell, C. Foster, L. Gao, M. Faruque, R. Riccio Oliveira, E. Carvalho, M. I. Araujo, A. A. Cruz, H. Watson, D. Mercado, J. Knight- Madden, I. Ruczinski, G. Dunston, J. Ford, L. Caraballo, T. Beaty, R. A. Mathias, K. C. Barnes. 2044T Validation of the HELIC population isolate collections as cohorts for complex trait association mapping. E. Zeggini, I. Tachmazidou, A. Farmaki, L. Southam, N. W. Rayner, K. Daoutidou, A. Kolb- Kokocinski, K. Panoutsopoulou, E. Tsafantakis, M. Karaleftheri, G. Dedoussis. 2045F Evidence of natural selection at Crohn s GWAS loci based on population genetic variation. B. M. P. M. Bowen, J. H. Cho. 2046W Genetic associations with serologic autoimmunity in a large multi-ancestral systemic lupus erythematosus cohort. S. N. Kariuki, B. S. Franek, A. A. Kumar, M. Kumabe, K. M. Kaufman, J. M. Anaya, M. E. Alarcón-Riquelme, S. C. Bae, E. E. Brown, B. I. Freedman, G. S. Gilkeson, C. O. Jacob, J. A. James, R. P. Kimberly, J. Martin, J. T. Merrill, B. Pons-Estel, B. P. Tsao, T. J. Vyse, C. D. Langefeld, J. B. Harley, K. L. Moser, P. M. Gaffney, A. D. Skol, T. B. Niewold. 2047T HLA DRB1 amino acid position 11 is highly associated with rheumatoid arthritis in African Americans. R. J. Reynolds, S. Raychaudhuri, P. I. W. de Bakker, X. Jia, M. I. Danila, A. F. Ahmed, L. W. Moreland, R. Brasington, L. F. Callahan, E. A. Smith, R. M. Plenge, S. L. Bridges, Jr., CLEAR Investigators. 2048F GCKR polymorphism and insulin resistance in Americans of Mexican origin. Y. Lu, H. Q. Qu, Q. Li, S. P. Fisher-Hoch, J. B. McCormick. 2049W Characterization of clinical characteristics and genetic burden of multiple sclerosis in Hispanics. I. Konidari, A. Hadjixenofontos, C. P. Manrique, A. H. Beecham, P. L. Whitehead, V. Bakthavachalam, P.-A. Gourraud, M. A. Pericak-Vance, L. Tornes, M. Ortega, K. W. Rammohan, S. Delgado, J. L. McCauley. 2050T Investigating a role for functional variation in HIV-1 control through exome sequencing. P. J. McLaren, P. Shea, I. Bartha, K. V. Shianna, D. B. Goldstein, J. Fellay. 2051F The effect of genetic and interaction factors for risk prediction in type 2 diabetes. D. Shigemizu, T. Abe, T. Morizono, T. A. Johnson, K. A. Boroevich, M. Kubo, Y. Nakamura, S. Maeda, T. Tsunoda. 2052W Genome-wide association study of structural foot disorders (lesser-toe deformity, hallux valgus and plantar soft-tissue atrophy) in older Caucasian populations. Y.-H. Hsu, C.-H. Cheng, Y. Liu, L. A. Cupples, J. Jordan, M. Hannan. 2053T Multi-stage genome-wide association metaanalyses identified two new loci for bone mineral density. L. Zhang, J. Li, Y. F. Pei, Y. Lin, H. Shen, K. Estrada, F. Rivadeneira, A. G. Uitterlinden, C. S. Shin, H. J. Choi, E. L. Duncan, P. J. Leo, M. A. Brown, Y. Z. Liu, Y. J. Liu, J. G. Zhang, Q. Tian, Y. P. Wang, X. Z. Zhu, S. Y. Wu, C. J. Papasian, H. W. Deng. 2054F Genetics of left- and right-hemisphere subcortical structures in the human brain. M. E. Renteria, A. Wallace, L. Strike, K. Johnson, D. P. Hibar, J. L. Stein, G. De Zubicaray, K. L. McMahon, G. W. Montgomery, P. M. Thompson, N. G. Martin, S. E. Medland, M. J. Wright. 2055W Variant in the HLA-DPB1 region inversely associated with follicular lymphoma risk in metaanalysis of two genome-wide association studies. L. Conde, K. E. Smedby, J. N. Foo, J. Riby, K. Humphreys, F. C. M. Sillé, H. Darabi, S. Sanchez, H. Hjalgrim, J. Liu, P. M. Bracci, C. F. Skibola. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

197 POSTER SESSIONS T Genome-wide linkage and association analyses in uterine leiomyomata reveal FASN as a risk gene. S. L. Eggert, K. L. Huyck, P. Somasundaram, R. Kavalla, E. A. Stewart, A. T. Lu, J. N. Painter, G. W. Montgomery, S. E. Medland, S. A. Treloar, K. T. Zondervan, D. R. Nyholt, A. C. Heath, P. A. F. Madden, L. Rose, P. M. Ridker, D. I. Chasman, N. G. Martin, R. M. Cantor, C. C. Morton. 2057F X chromosome markers associated with COPD: A meta-analysis in 3 cohorts. M. Hardin, M. McDonald, M. Matthiessen, M. Cho, E. Wan, P. Castaldi, D. Lomas, P. Bakke, A. Gulsvik, J. Crapo, T. Beaty, C. Lange, E. K. Silverman, D. DeMeo, COPDGene and ECLIPSE Investigators. 2058W Periodontitis shares IL2RA as a genetic risk factor with rheumatoid arthritis, multiple sclerosis, type 1 diabetes, and Crohn s disease. A. S. Schaefer, M. Nothnagel, C. Graetz, Y. Jockel, I. Harks, I. Staufenbiel, J. Eberhardt, E. Guzeldemir, N. Cine, E. Yilmaz, R. Nohutcu, B. Ehmke, P. Eickholz, M. Folwaczny, J. Meyle, U. Schlagenhauf, M. Laine, H. Dommisch, C. Bruckmann, B. Noack, B. Groessner-Schreiber, C. Doerfer, A. Franke, S. Jepsen, B. G. Loos, S. Schreiber. 2059T Genetic factors underlying birth weight and cardiovascular disease: A study of 17,048 Finns. K. Auro, E. Widen, J. Eriksson, A. Palotie, T. Lehtimäki, O. Raitakari, M. Perola. 2060F Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two Korean populations. K. Hong, Y. Kim. 2061W Genetic association of erythrocyte and platelet phenotypes in Mexican Americans. P. E. Melton, J. E. Curran, M. Carless, M. P. Johnson, T. D. Dyer, J. W. MacCluer, E. K. Moses, H. H. H. Goring, R. Duggirala, D. Glahn, J. Blangero, L. Almasy. 2062T GWAS in an isolated Sardinian population contribute to elucidate the genetic control of serum angiotensin converting enzyme level. I. Persico, M. P. Concas, G. B. Maestrale, L. Portas, F. Murgia, M. Cosso, D. Serra, M. Pirastu. 2063F Flipping sign test of GWAS summary statistics on multiple correlated traits. Z. Zhang, N. Franceschini, T. Edwards, B. Keating, B. Tayo, E. Fox, A. Johnson, Y. Sun, Y. Sung, M. Nalls, J. Hunter, A. Dresbach, S. Musani, G. Papanicolaou, G. Lettre, A. Adebowale, R. Cooper, A. P. Reiner, D. Rao, D. Levy, X. Zhu. 2064W Association study on the X chromosome identifies novel genes associated with systemic lupus erythematosus in Asian populations. W. Yang, Y. Zhang, N. Hirankarn, X. Zhang, Y. Lau. 2065T Genetic modifiers of the palatal phenotype in 22q11 microdeletion syndrome: Preliminary results of a genome-wide association study. C. Vial, G. M. Repetto, M. Palomares, S. McGhee, N. K. Henderson-MacLennan, M. L. Guzman, K. Espinoza, G. Lay-Son. 2066F Genome-wide copy number variation in anorectal malformations. S. S. Cherny, E. H. M. Wong, L. Cui, C. L. Ng, C. S. M. Tang, M. T. So, B. H. K. Yip, G. Cheng, V. C. H. Liu, P. C. Sham, P. K. H. Tam, M.-M. Garcia-Barceló. 2067W A genome-wide meta-analysis of copy number variation identifies novel childhood obesity loci. D. Hadley, J. Bradfield, H. Hakonarson, S. Grant on behalf of Early Growth Genetics Consortium. 2068T Copy number variation analysis implicates locus 5q21.2 with raised intra-ocular pressure. A. Nag, P. G. Hysi, C. Venturini, S. MacGregor, A. W. Hewitt, T. L. Young, P. Mitchell, A. C. Viswanathan, D. A. Mackey, C. J. Hammond, WTCCC F Genome- wide analysis of copy number variants in Down syndrome-associated congenital heart defects. D. Ramachandran, J. Mulle, A. E. Locke, P. Bose, L. J. Bean, S. Le, T. Rosser, K. Dooley, D. J. Cutler, E. Feingold, S. Y. Cheong, C. L. Cua, C. L. Maslen, R. H. Reeves, S. L. Sherman, M. E. Zwick. 2070W Rare genetic variation in relation to circulating adiponectin. S. Gustafsson, L. Lind, A. Mahajan, S. Söderberg, A. Flyvbjerg, C. M. Lindgren, A. P. Morris, I. Ingelsson. 2071T Comprehensive evaluation of type 2 diabetes susceptibility loci in East Asians by using 1000 Genomes Project data. K. Hara, H. Fujita, T. A. Johnson, S. Maeda, T. Tsunoda, M. Kubo, T. Kadowaki. 2072F Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. V. Cipriani, H.-T. Leung, V. Plagnol, C. Bunce, J. C. Khan, H. Shahid, A. T. Moore, S. P. Harding, P. N. Bishop, C. Hayward, S. Campbell, A. M. Armbrecht, B. Dhillon, I. J. Deary, H. Campbell, M. Dunlop, A. F. Dominiczak, S. S. Mann, S. A. Jenkins, A. R. Webster, A. C. Bird, M. Lathrop, D. Zelenika, A. J. Cree, J. Gibson, S. Ennis, A. J. Lotery, A. F. Wright, D. G. Clayton, J. R. W. Yates. 2073W Evidence for association and biologic support of a novel locus for serum albumin. N. Franceschini, F. J. A. van Rooij, B. P. Prins, M. F. Feitosa, M. Karakas, Q. Wu, C. A. Winkler, J. Kopp, J. F. Felix, K. E. North, B. Z. Alizadeh, L. A. Cupples, J. R. B. Perry, A. P. Morris on behalf of CHARGE Consortium Protein Working Group. 2074T Gene-based meta-analysis of genome-wide association studies implicates new susceptibility loci for obesity. S. Hägg, Y. Pawitan, E. Ingelsson on behalf of GIANT Consortium. 2075F Homozygosity mapping in a Sindh Pakistan family identifies new candidate regions for primary autosomal recessive microcephaly. P. Lemay, M. Sindhi, N. Sehar, S. Kashif, Q. Brohi, J. Michaud, Z. Kibar. POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

198 196 POSTER SESSIONS 2076W Large-scale rare-variant analyses of eight quantitative traits reveal novel loci for triglycerides and fasting insulin in genome-wide studies imputed from 2188-haplotype 1000 Genomes reference panel. R. Mägi, M. Horikoshi, I. Surakka, S. Wiltshire, A.-P. Sarin, T. Esko, A. Mahajan, T. Ferreira, M. Beekman, S. Gustafsson, S. Hägg, C. Ladenvall, L. Marullo, C. P. Nelson, J. S. Ried, G. Thorleifsson, N. Tsernikova, S. M. Willems, C. Willenborg, T. Winkler, C. M. Lindgren, M. I. McCarthy, S. Ripatti, I. Prokopenko, A. P. Morris for ENGAGE Consortium. 2077T Common genetic variants underlie endometriosis and fat distribution but not overall adiposity. N. Rahmioglu, S. Macgregor, H. R. Harris, A. Morris, S. A. Missmer, G. W. Montgomery, C. M. Lindgren, K. T. Zondervan, International EndoGene Consortium, GIANT Consortium. 2078F Genome-wide association of single nucleotide polymorphisms with weight loss outcomes following Roux-en-Y gastric bypass surgery. E. Rinella, C. Still, Y. Shao, G. C. Wood, X. Chu, B. Salerno, G. S. Gerhard, H. Ostrer. 2079W Identification of common and specific genetic determinants to skin prick test reactivity using genome-wide association study and gene-based test approaches. P.-E. Sugier, A. Vaysse, C. Loucoubar, C. Sarnowski, P. Margaritte-Jeannin, M.-H. Dizier, M. Lathrop, F. Demenais, E. Bouzigon, EGEA Collaborative Group. 2080T A genome-wide meta-analysis of circulating levels of IGF-I and IGFBP-3. A. Teumer, R. S. Vasan, M. Bidlingmaier, T. Tanaka, N. L. Glazer, M. Nethander, T. Harris, M. Beekman, R. Westendorp, E. Slagboom, J. I. Rotter, P. P. Pramstaller, Q. Sun, C. Zhang, C. S. P. Lam, M. O. Goodarzi, K. Rice, B. M. Psaty, G. Li, J. B. Meigs, L. Kuller, M. N. Pollak, C. van Duijn, A. Tönjes, S. Berndt, E. Ziv, X. Xue, C. Ohlsson, H. Wallaschofski, R. C. Kaplan on behalf of CHARGE Insulin-Like Growth Factor Working Group. 2081F Phenotypic refinement and genome-wide association analysis identifies a functional variant in ADCY3 associated with BMI. N. J. Timpson, R. Gaillard, E. Stergiakouli, H. R. Taal, D. M. Evans, F. Rivadeneira, B. St. Pourcain, A. G. Uitterlinden, J. Kemp, A. Hofman, S. Ring, V. W. V. Jaddoe, G. Davey Smith. 2082W A genome-wide association study of kidney transplant survival: Donors recipients and interactions. C. Franklin, M. Hernandez Fuentes, J. Mollon, I. Rebollo Mesa, E. Perucha, P. Conlon, N. Anyanwu, S. H. Sacks, M. E. Weale, N. Soranzo, G. Lord, United Kingdom and Ireland Renal Transplant Consortium, the Wellcome Trust Case-Control Consortium T Admixture mapping of vitamin D in African Americans. I. Halder, L. Pearson,.S. Mulukutla, M. Shriver, V. Causer, G. Huggins, S. Reis. 2084F A genome-wide association study establishes multiple susceptibility loci for Sjögren s syndrome. C. J. Lessard, H. Li, I. Adrianto, J. A. Ice, R. Jonsson, G. G. Illei, M. Rischmueller, G. Nordmark, X. Mariette, C. Miceli-Richard, M. Wahren-Herlenius, T. Witte, M. Brennan, R. Omdal, P. M. Gaffney, J. A. Lessard, W.-F. Ng, N. Rhodus, B. Segal, R. H. Scofield, J. A. James, J.-M. Anaya, J. B. Harley, C. G. Montgomery, K. Moser Sivils. 2085W Pooling-based genome-wide association study for intracranial aneurysms in the Portuguese population. P.C. S. Abrantes, I. Sousa, M. M. Santos, V. Francisco, T. Krug, J. M. Xavier, A. Jacinto, D. Coiteiro, S. A. Oliveira. 2086T Genetic variants at the IGHC locus are associated with IgG levels in multiple sclerosis patients. E. Albrecht, D. Buck, M. Aslam, A. Goris, N. Hauenstein, A. Jochim, S. Cepok, V. Grummel, B. Dubois, A. Berthele, P. Lichtner, C. Gieger, J. Winkelmann, B. Hemmer. 2087F A web-based initiative to accelerate research on genetics and disease in African Americans. K. E. Barnholt, A. K. Kiefer, H. L. Gates, Jr., M. Nelson, M. Mullins, E. Baker, J. Frank, C. D. Bustamante, T. W. Love, R. A. Kittles, N. Eriksson, J. L. Mountain. 2088W First systematic association study of achalasia points to a strong involvement of the HLA region in the disease process. J. Becker, M. Knapp, M. M. Wouters, G. Trynka, V. Kumar, L. Franke, H.-J. Westra, C. Wijmenga, G. E. Boeckxstaens, M. M. Nöthen, I. Gockel, J. Schumacher. 2089T Genetic variants associated with breast size also influence breast cancer risk. G. Benton, N. Eriksson, C. B. Do, A. K. Kiefer, J. L. Mountain, D. A. Hinds, U. Francke, J. Y. Tung. 2090F Meta-analysis of genetic associations in up to 339,224 individuals identify 67 new loci for BMI, confirming a neuronal contribution to body weight regulation and implicating several novel pathways. S. I. Berndt, S. Vedantam, F. Day, S. Gustafsson, A. E. Locke, C. Powell, B. Kahali, D. C. Croteau-Chonka, T. W. Winkler, A. Scherag, I. Barroso, J. S. Beckmann, A. Justice, C. M. Lindgren, T. Pers, P. Visscher, J. Yang, M. Boehnke, G. Abecasis, C. J. Willer, K. L. Mohlke, K. E. North, J. N. Hirschhorn, E. Ingelsson, R. J. F. Loos, E. K. Speliotes for GIANT Consortium. 2091W Selective immunoglobulin A deficiency is associated with IFIH1, TNFAIP3, PVT1, FAS, CDH23 and TM7SF3 in a genome-wide association study and metaanalysis. P. G. Bronson, A. P. Manoharan, T. R. Bhangale, W. Ortmann, R. C. Ferreira, Q. Pan-Hammarström, L. Hammarström, R. R. Graham, T. W. Behrens. 2092T Three new susceptibility loci for hyperuricemia identified through a genome-wide association analysis in Han Chinese. C.-H. Chen, Y.-T. Chen, Y.-T. Chen, J.-Y. Wu. 2093F Candidate genetic loci for telomere length: A family based association study of Long Life Family Study. R. Cheng, J. H. Lee, M. S. Kang, M. A. Province, R. Mayeux, L. S. Honig. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

199 POSTER SESSIONS W Common variations at chromosome 21q22 influences the risk of age-related nuclear cataract: The Singapore Malay Eye Study. C. Y. Cheng, J. Liao, X. Li, C. C. Khor, W. T. Tay, A. G. Tan, J. J. Wang, P. Mitchell, Y. Y. Teo, E. S. Tai, S. M. Saw, T. Aung, T. Y. Wong. 2095T A genome-wide association study on progressive and bout-onset multiple sclerosis patients. F. Clarelli, P. Brambilla, F. Esposito, G. Giacalone, M. Rodegher, M. Sorosina, C. Guaschino, N. Barizzone, P. Cavalla, E. Patti, D. Galimberti, E. Scarpini, S. Lupoli, R. Capra, G. Tedeschi, G. Mancardi, G. Coniglio, L. Grimaldi, A. Ghezzi, D. Cusi, V. Martinelli, M. Leone, S. D Alfonso, G. C. Comi, F. Martinelli Boneschi. 2103W A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1. A. Fischer, B. Schmid, D. Ellinghaus, M. Nothnagel, K. I. Gaede, M. Schürmann, S. Lipinski, P. Rosenstiel, G. Zissel, K. Höhne, M. Petrek, V. Kolek, S. Pabst, C. Grohé, J. Grunewald, M. Ronninger, A. Ecklund, L. Padyukov, C. Gieger, H.-E. Wichmann, A. Nebel, A. Franke, J. Müller-Quernheim, S. Hofmann, S. Schreiber. 2104T A GWAS on age-related hearing impairment in a European population. E. Fransen, S. Bonneux, I. Schrauwen, F. Di Berardini, I. Dhooge, J. J. Corneveaux, J. D. Ohmen, P. H. Van de Heyning, R. Friedman, M. J. Huentelman, G. Van Camp. POSTER SESSIONS 2096F Novel loci for caffeinated coffee consumption revealed by a genome-wide meta-analysis of 91,000 individuals. M. Cornelis on behalf of Coffee & Caffeine Genetics Consortium. 2097W Genome-wide association study of Tanner puberty staging in males and females. D. Cousminer, N. Timpson, D. Berry, W. Ang, I. Ntalla, M. Groen-Blokhuis, M. Guxens, M. Kähönen, J. Viikari, T. Lehtimäki, K. Panoutsopoulou, D. Boomsma, E. Zeggini, G. Dedoussis, C. Pennell, O. Raitakari, E. Hyppönen, G. Davey Smith, M. McCarthy, E. Widén, Early Growth Genetics Consortium. 2098T Genetic variation associated with circulating monocyte count in the emerge Network. D. Crosslin, A. McDavid, N. Weston, X. Zheng, E. Hart, M. de Andrade, I. Kullo, C. McCarty, K. Doheny, E. Pugh, A. Kho, M. Hayes, M. Ritchie, A. Saip, D. Crawford, P. Crane, K. Newton, R. Li, D. Mirel, A. Crenshaw, E. Larson, C. Carlson, G. Jarvik. 2099F A genome-wide association study of systemic lupus erythematosus in North Americans of European ancestry. F. Y. Demirci, X. Wang, A. H. Kao, A. Clarke, R. Ramsey-Goldman, S. Manzi, M. M. Barmada, M. I. Kamboh. 2100W Genome-wide association study of sexual orientation in a large, web-based cohort. E. M. Drabant, A. K. Kiefer, N. Eriksson, J. L. Mountain, U. Francke, J. Y. Tung, D. A. Hinds, C. B. Do. 2101T Identification of multiple novel susceptibility regions for primary sclerosing cholangitis through dense genotyping of autoimmunity risk loci. E. Ellinghaus, J. Z. Liu, T. Folseraas, A. Franke, C. A. Anderson, T. H. Karlsen on behalf of International Primary Sclerosing Cholangitis Study Group and Immunochip Consortium. 2102F Screening of inflammation-related SNPs identifies a functional IL6 receptor variant as a risk factor for atopic dermatitis. J. Esparza Gordillo, H. Schaarschmidt, L. Liang, W. O. C. M. Cookson, M. L. Lee-Kirsch, J. Henderson, L. Paternoster, J. I. Harper, E. Mangold, M. M. Nothen, F. Rüschendorf, T. Kerscher, I. Marenholz, A. Matanovic, S. Lau, T. Keil, C. P. Bauer, M. Kurek, A. Ciechanowicz, M. Macek, A. Franke, M. Kabesch, N. Hubner, G. Abecasis, S. Weidinger, M. F. Moffatt, Y. A. Lee. 2105F An extensive literature-based multilocus genetic score is associated with all-cause-mortality and major diseases: The Rotterdam and TwinGene studies. A. Ganna, A. C. Janssens, A. Hofman, F. Rivadeneira, A. G. Uitterlinden, P. K. E. Magnusson, N. L. Pedersen, E. Ingelsson, H. Tiemeier. 2106W Large-scale meta-analysis in up to 40,429 Europeans identifies genetic loci associated with non-fasting plasma glucose and reveals links to glucose uptake in muscle. K. S. Gutierrez, V. Lagou, A. Isaacs, J. B. Meigs, Y. S. Aulchenko, I. Prokopenko for MAGIC (Meta-Analyses of Glucose and Insulin-Related Traits Consortium) Investigators. 2107T Genome-wide association study detects multiple novel loci associated with nuclear magnetic resonance spectroscopy detected metabolites in human serum. P. Henneman, A. Verhoeven, H. Dharuri, J. van Klinken, A. Meissner, S. Göraler, A. Deelder, R. Frants, L. Karssen, B. Oostra, K. Willems van Dijk, C. van Duijn. 2108F Ontology, visual, and informatics enhancements to the NHGRI genome-wide association study catalog. L. A. Hindorff, J. A. L. MacArthur, D. Welter, T. Burdett, P. Hall, H. A. Junkins, H. Parkinson. 2109W Genome-wide association study of time-to diabetic retinopathy. S. M. Hosseini, A. P. Boright, L. Sun, K. Howard, A. J. Canty, S. B. Bull, B. E. Klein, R. Klein, A. D. Paterson, DCCT/EDIC Research Group. 2110T Genome-wide screen for telomere length loci identifies a cancer risk associated gene in Finnish cohorts. I. Hovatta, I. Surakka, I. Sirén, J. Kettunen, J. G. Eriksson, P. Knekt, V. Salomaa, J. Kaprio, S. Ripatti. 2111F GWAS identifies 13 polymorphisms associated with motion sickness. B. S. Hromatka, E. R. Chang, J. Y. Tung, J. L. Mountain, U. Francke, C. B. Do, N. Eriksson. 2112W Identification of leprosy host genetic susceptibility loci. A. Irwanto, L. Hong, F. Zhang, J. Liu. 2113T Genetic risk score in multiple sclerosis: Back to the individual in the post-gwas era. N. Isobe, P. KhanKhanian, B. Vinod, S. Cailler, H. Harbo, A. Santaniello, S. Hauser, J. Oksenberg, P. Gourraud. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

200 198 POSTER SESSIONS 2114F A genome-wide association study of HIV-1 infection in African American and European American injection drug users. E. Johnson, D. Hancock, J. Levy, G. Page, S. Novak, C. Glasheen, N. Gaddis, N. Saccone, J. Rice, Q. Wang, M. Moreau, K. Doheny, J. Romm, A. Brook, L. Bierut, A. Kral. 2115W Genetics of myopia in a participant driven, webbased cohort. A. K. Kiefer, J. Y. Tung, C. B. Do, D. A. Hinds, J. L. Mountain, U. Francke, N. Eriksson. 2116T A meta-analysis of 52,439 individuals identifies four loci associated with leptin levels independent of adiposity. T. O. Kilpeläinen, Q. Sun, Z. Kutalik, K. Kristiansson, M. Mangino, M. Su, P. P. Framstaller, D. Pasko, T. Tanaka, Y. J. Sung, P. Henneman, A. Mahajan, M. Beekman, M. E. Kleber, T. I. A. Sørensen, L. J. Rasmussen-Torvik, O. T. Raitakari, L. Perusse, C. Ohlsson, M. Walker, S. M. Willems, R. H. Myers, J. Eriksson, V. Salomaa, H. Grallert, T. B. Harris, O. Pedersen, R. J. Loos for LEPGen Consortium. 2117F Pathway-based analysis of genome-wide association studies for the personality traits. H. Kim, S. Roh, C. Hong, E. Lee, Y. Sung, H. Lee, H. Chung, J. Lee, H. Kim. 2118W A genome-wide association study identifies a novel susceptible locus for refractive error at 19q13.12 in Korea. W. R. Kim, T. Y. Chung, Y. M. Song, K. Lee, J. Sung. 2119T A genome-wide association study on hallux valgus angle identifies candidate loci: The Healthy Twin Study Korea. S.-J. Lee, D. Lee, J.-H. Hwang, Y.-M. Song, K. Lee, J. Sung. 2120F Sciatica in young adult population: A genomewide association study in the young Finns. S. Lemmelä, S. Solovieva, R. Shiri, T. Lehtimäki, I. Seppälä, M. Kähönen, M. Juonala, J. Viikari, O. Raitakari, E. Viikari- Juntura, K. Husgafvel-Pursiainen. 2121W GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African American children. J. Li, J. T. Glessner, H. Zhang, C. Hou, Z. Wei, J. Bradfield, F. D. Mentch, Y. Guo, C. Kim, Q. Xia, R. M. Chiavacci, K. A. Thomas, H. Qiu, S. Grant, S. L. Furth, H. Hakonarson, P. M. A. Sleiman. 2122T A genome-wide analysis of longitudinal forced expiratory volume in one second in the Framingham Heart Study. S.-Y. Liao, X. Lin, D. C. Christiani. 2123F Hundreds of loci contribute to body fat distribution and central adiposity. A. E. Locke, D. Shungin, T. Ferreira, T. W. Winkler, D. C. Croteau-Chonka, R. Magi, T. Workalemahu, K. Fischer, J. Wu, R. J. Strawbridge, A. Justice, F. Day, N. Heard-Costa, C. S. Fox, M. C. Zillikens, E. K. Speliotes, H. Völzke, L. Qi, I. Barroso, I. M. Heid, K. E. North, P. W. Franks, M. I. McCarthy, J. N. Hirschhorn, L. A. Cupples, E. Ingelsson, A. P. Morris, R. J. F. Loos, C. M. Lindgren, K. L. Mohlke, Genetic Investigation of ANthropometric Traits Consortium. 2124W Significant evidence for association in genomewide analyses of lipid levels in Pima Indians. A. Malhotra, S. Kobes, W. C. Knowler, L. J. Baier, R. L. Hanson. 2125T Investigation of lipid pathway genes in late onset Alzheimer s disease. L. L. McClain, X. Wang, M. M. Barmada, F. Y. Demirci, O. L. Lopez, M. I. Kamboh. 2126F Genome-wide association study identifies genetic loci associated with iron overload in HFE hemochromatosis. J. Mosser, R. Bouvet, J. Morcet, M. Perrin, A. M. Jouanolle, M. P. Roth, E. Génin, Y. Deugnier, M. de Tayrac. 2127W Not a stretch: Variant near the dermal gene elastin is associated with stretch marks. M. E. Mullins, N. Eriksson, A. K. Kiefer, J. Y. Tung. 2128T Identification of three new genes associated to serum butyrylcholinesterase activity by GWAS in two genetically distant isolated populations. F. Murgia, L. Portas, S. Ulivi, N. Pirastu, S. Vaccargiu, D. Parracciani, P. Gasparini, M. Pirastu. 2129F Common genetic variants of primary open-angle glaucoma in Japanese population. M. Nakano, Y. Ikeda, Y. Tokuda, M. Fuwa, R. Sato, N. Omi, H. Adachi, M. Ueno, K. Mori, S. Kinoshita, K. Tashiro. 2130W The associations of HLA-DP locus with chronic hepatitis B and viral clearance are widely replicated in East-Asian populations. N. Nishida, Y. Tanaka, H. Sawai, Y. Mawatari, M. Yamaoka, A. Koike, K. Matsuura, M. Sugiyama, K. Murata, M. Korenaga, N. Masaki, K.-H. Han, K. Tokunaga, M. Mizokami. 2131T Three novel loci identified with BMI in a genome-wide association study of 47,098 men and women of African ancestry. K. E. North, K. L. Monda, G. K. Chen, K. T. Taylor, L. A. Lange, C. Palmer, R. J. Loos, A. P. Reiner, D. R. Velez Edwards, M. C. Ng, T. L. Edwards, C. Kooperbeerg, B. E. Henderson, G. J. Papanicolaou, J. N. Hirschhorn, C. Haiman, African American BMI Consortium. 2132F Genetic determinants of IL-1 receptor antagonist in the circulation. M.-L. Nuotio, K. Kristiansson, M. Perola, V. Salomaa. 2133W Multi-ethnic GWA meta-analysis identifies new endometriosis risk loci. D. R. Nyholt, S.-K. Low, C. A. Anderson, J. P. Painter, S. Uno, A. P. Morris, S. MacGregor, S. D. Gordon, A. K. Henders, N. G. Martin, J. Attia, E. G. Holliday, M. McEvoy, R. J. Scott, S. H. Kennedy, S. A. Treloar, S. A. Missmer, S. Adachi, K. Tanaka, Y. Nakamura, K. T. Zondervan, H. Zembutsu, G. W. Montgomery. 2134T Genome-wide association study reveals new candidate loci for hand osteoarthritis. A. Näkki, J. Eriksson, E. Widen, A. Palotie, U. M. Kujala, J. Saarela. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

201 POSTER SESSIONS F Genome-wide association study and metaanalysis of intraocular pressure in primary open-angle glaucoma cases and controls in the NEIGHBOR, GLAUGEN and AMD-MMAP MI Consortia. A. B. Ozel, S. Moroi, D. Reed, E. Trager, K. Scott, J. Gilbert, S. Garnai, S. Akbari, M. Nika, C. Schmidt, B. Yaspan, K. Branham, W. Chen, J. Heckenlively, A. Swaroop, G. Abecasis, A. Ashley-Koch, M. Ulmer, M. Hauser, J. Haines, L. R. Pasquale, J. Wiggs, J. Richards, J. Z. Li, NEIGHBOR Consortium. 2136W Haplotype association mapping in 33 inbred mouse strains identifies genetic regions contributing to chronic hypoxia-induced pulmonary hypertension. M. W. Pauciulo, D. Koller, P. Hale, T. D. Le Cras, P. Pastura, B. Aronow, C. Tolentino, D. Li, T. Foroud, W. C. Nichols. 2137T Large-scale genome-wide association metaanalysis of fasting glycemic traits using imputation from 2188-haplotype 1000 Genomes reference panel within ENGAGE consortium. I. Prokopenko, R. Mägi, M. Horikoshi, I. Surakka, S. Wiltshire, A.-P. Sarin, A. Mahajan, L. Marullo, T. Ferreira, S. Hägg, J. S. Ried, G. Thorleifsson, T. Esko, S. M. Willems, A. P. Morris, M. I. McCarthy, S. Ripatti, European Network for Genetic and Genomic Epidemiology Consortium. 2138F BRC allergene study: A TwinsUK GWAS of a metabolite associated with allergic response to nickel. L. Quaye, L. Bevan, T. Tsakok, C. Menni, A. Moayyeri, I. Erte, T. D. Spector, C. J. Hammond, F. O. Nestle. 2139W Experience with Illumina Infinium FFPE DNA restoration solution. J. Romm, S. Pottinger, L. Aker, C. Hilton, C. Ongaco, K. Doheny. 2140T The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: A genome-wide association analysis of type 2 diabetes. L. C. Sakoda, L. Shen, S. Sciortino, D. K. Ranatunga, R. W. Grant, T. J. Hoffmann, M. N. Kvale, S. Hesselson, Y. Banda, P. Kwok, N. Risch, C. Schaefer, A. Ferrara. 2145W Genome-wide association scan of osteoporotic fracture: A meta-analysis of 10,012 African American women. K. C. Taylor, D. Edwards, T. Edwards, D. S. Evans, G. Li, K. E. North, N. Franceschini, R. Jackson, M. Donneyong, A. Z. LaCroix, J. A. Robbins, B. Lewis, M. L. Stefanick, Y. Liu, M. Garcia, T. B. Harris, J. A. Cauley. 2146T Genome-wide association analysis of percent body fat in adults from the Fels Longitudinal Study. B. Towne, J. Blangero, A. C. Choh, J. E. Curran, C. Bellis, T. D. Dyer, E. W. Demerath, M. Lee, R. M. Siervogel, S. A. Czerwinski. 2147F Genome-wide association meta-analyses in over 210,000 individuals identify 20 sexually dimorphic genetic variants for body fat distribution. T. W. Winkler, D. C. Croteau-Chonka, T. Ferreira, K. Fischer, A. E. Locke, R. Mägi, D. Shungin, T. Workalemahu, J. Wu, F. Day, A. U. Jackson, A. Justice, R. Strawbridge, H. Völzke, L. Qi, M. C. Zillikens, C. S. Fox, E. K. Speliotes, I. Barroso, E. Ingelsson, J. N. Hirschhorn, M. I. McCarthy, P. W. Franks, A. P. Morris, L. A. Cupples, K. E. North, K. L. Mohlke, R. J. F. Loos, I. M. Heid, C. M. Lindgren, GIANT Consortium. 2148W 1000 Genomes imputation identifies low frequency-large effect circulating biomarker associations undetected by HapMap-based imputation. A. R. Wood, J. Tyrrell, D. G. Hernandez, M. A. Nalls, H. Yaghootkar, J. R. Gibbs, L. W. Harries, S. Chong, M. Moore, J. M. Guralnik, S. Bandinelli, A. Murray, L. Ferrucci, A. B. Singleton, D. Melzer, M. N. Weedon, T. M. Frayling. 2149T So fresh or so clean? A genetic variant near olfactory receptor genes associates with cilantro taste preference. S. Wu, J. Y. Tung, A. B. Chowdry, A. K. Kiefer, J. L. Mountain, N. Eriksson. 2150F Genome-wide association study for Behçet’s disease in an Iranian dataset using a DNA pooling approach. J. Xavier, M. Martins, J. Sobral, F. Shahram, F. Davatchi, B. S. Abdollahi, A. Nadji, N. M. Shafiee, F. Ghaderibarim, S. A. Oliveira. POSTER SESSIONS 2141F A genome-wide association study of Helicobacter pylori infection susceptibility. C. Schurmann, J. Mayerle, L. Stolk, M. J. Peters, G. Homuth, A. G. Uitterlinden, M. M. Lerch, E. Kuipers. 2142W GWAS needs a good phenotype: Clustering tooth surfaces into biologically-informative dental caries outcomes. J. R. Shaffer, E. Feingold, X. Wang, M. Lee, K. T. Cuenco, D. E. Weeks, R. J. Weyant, R. Crout, D. W. McNeil, M. L. Marazita. 2143T X chromosome SNPs not strongly associated with juvenile idiopathic arthritis. M. Sudman, M. Marion, T. Howard, J. Haas, S. Prahalad, J. Bohnsack, C. Wise, M. Punaro, C. Rose, M. Ryan, M. Wagner, C. D. Langefeld, D. Glass, S. Thompson. 2144F In quest of aging- and longevity-associated genetic markers. R. Tamm, M. Alver, K. Fischer, R. Magi, A. Metspalu. 2151W A genome-wide association study identifies susceptibility loci for non-syndromic sagittal craniosynostosis on chromosomes 20 and 7. G. Yagnik, C. M. Justice, Y. Kim, I. Peter, E. W. Jabs, X. Ye, L. Shi, M. L. Cunningham, V. Kimonis, T. Roscioli, S. A. Wall, A. O. M. Wilkie, J. Stoler, J. T. Richtsmeier, Y. Heuzé, P. A. Sanchez-Lara, M. F. Buckley, C. M. Druschel, J. L. Mills, M. Caggana, P. A. Romitti, D. M. Kay, C. Senders, P. J. Taub, O. D. Klein, J. Boggan, C. Naydenov, J. Kim, A. F. Wilson, S. A. Boyadjiev. 2152T Finding genome-transcriptome-phenome association with structured association mapping and visualization in GenAMap. J. Yin, R. E. Curtis, E. P. Xing. 2153F A genome-wide association study of central corneal thickness in Latinos. X. Gao, W. J. Gauderman, P. Marjoram, M. Torres, T. Haritunians, J. Z. Kuo, Y. I. Chen, K. D. Taylor, J. I. Rotter, R. Varma. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

202 200 POSTER SESSIONS 2154W CDKN2BAS genotype: Primary open angle glaucoma feature correlations in the GLAUGEN study and the NEIGHBOR consortium. L. R. Pasquale, S. J. Loomis, J. H. Kang, B. L. Yaspan, D. L. Budenz, D. S. Friedman, D. Gaasterland, T. Gaasterland, R. K. Lee, P. R. Lichter, Y. Liu, C. A. McCarty, S. Moroi, L. M. Olson, T. Realini, J. S. Schuman, K. Singh, D. Vollrath, G. Wollstein, D. J. Zack, W. Abdrabou, M. A. Hauser, E. Delbono, R. R. Allingham, M. A. Pericak-Vance, R. N. Weinreb, K. Zhang, J. E. Richards, J. L. Haines, J. L. Wiggs. 2155T Ethnicity and ancestry information from genome-wide association studies: The NHGRI GWAS catalog. H. A. Junkins, J. A. L. MacArthur, P. Hall, K. A. Harvey, T. A. Manolio, L. A. Hindorff. 2156F OFCD syndrome gene BCOR is associated with dental caries. X. Wang, Z. Zeng, J. R. Shaffer, E. Feingold, D. E. Weeks, M. Lee, K. T. Cuenco, R. J. Weyant, R. Crout, D. W. McNeil, M. L. Marazita. 2157W Sickle-cell locus is a major modifier of human susceptibility to invasive bacterial infection: A genomewide association study of bacteremia susceptibility. A. Rautanen, M. Pirinen, C. Spencer, T. Mills, S. Chapman, K. Rockett, J. A. Scott, T. N. Williams, P. Donnelly, A. V. Hill. 2158T Using genomics to decipher causation in severe edematous childhood malnutrition: A pilot GWAS. N. A. Hanchard, S. Howell, K. Marshall, T. Forrester, M. Reid, X. Wang, L. M. Franco, J. W. Belmont, C. A. McKenzie. 2159F Genome-wide association study of body mass index in Samoans. R. L. Minster, G. Sun, S. R. Indugula, H. Cheng, N. L. Hawley, S. Viali, R. Deka, D. E. Weeks, S. T. McGarvey. 2160W Variants in RUNX3 contribute to susceptibility to psoriatic arthritis exhibiting further common ground with ankylosing spondylitis. A. Reis, M. Apel, S. Uebe, J. Bowes, E. Giardina, E. Korendowych, K. Juneblad, F. Pasutto, A. B. Ekici, R. McManus, P. Ho, I. N. Bruce, A. W. Ryan, F. Behrens, B. Böhm, H. Traupe, J. Lohmann, C. Gieger, H. E. Wichmann, L. Padyukov, O. FitzGerald, G. M. Alenius, N. McHugh, G. Novelli, H. Burkhardt, A. Barton, U. Hüffmeier. 2161T Association analysis between X-chromosome variants and asthma in 50,000 individuals. C. S. Tang, D. Hinds, M. A. R. Ferreira. 2162F Early adiposity phenotypes associate with common variants at LEPR, FTO, TFAP2B and GNPDA2. M.-R. Jarvelin, S. Das, H. R. Taal, U. Sovio, D. Mook-Kanamori, N. M. Warrington, N. J. Timpson, D. L. Cousminer, E. Thiering, I. Y. Millwood, J. L. Buxton, S. Sebert, M. Kaakinen, A. I. F. Blakemore, J. Eriksson, P. Froguel, M. McCarthy, L. Coin, P. O Reilly, V. W. V. Jaddoe, Early Growth Genetics Consortium. 2163W Multiple human genetic variants associated with Epstein-Barr virus load in the 1000 Genomes and HapMap lymphoblastoid cell lines. C. Houldcroft, A. Gall, J. Z. Liu, A. L. Palser, S. J. Watson, C. A. Anderson, P. Kellam. 2164T Genome-wide association study on expressive language development in children from the general population links early word production to common variation at 3p12.3. B. St Pourcain, R. Cents, W. Ang, P. F. O Reilly, F. Velders, N. Warrington, C. M. A. Haworth, O. S. P. Davis, A. Whitehouse, N. Timpson, J. Kemp, D. M. Evans, M. Marinelli, Y. Wren, S. Roulstone, R. Plomin, V. Jaddoe, M.-R. Jarvelin, C. Pennell, H. Tiemeier, G. Davey Smith, EAGLE. 2165F A genome-wide association study of early menopause and the predictive impact of identified variants on risk. J. R. B. Perry, T. Corre, T. Esko, S. Chanock, D. Chasman, E. Demerath, M. Garcia, S. Hankinson, F. Hu, D. Hunter, K. Lunetta, A. Metspalu, G. Montgomery, J. Murabito, A. Newman, K. Ong, T. Spector, K. Stefansson, A. Swerdlow, U. Thorsteinsdottir, R. Van Dam, A. G. Uitterlinden, J. Visser, P. Vollenweider, D. Toniolo, A. Murray on behalf of Reprogen Consortium. 2166W Genome-wide association study of nocturnal awakening in asthma. D. Chhabra, A. Dahlin, Q. Duan, B. Himes, S. T. Weiss, K. G. Tantisira. 2167T Preliminary meta-analysis of genome-wide association studies of lung function in children. M. Kowgier, M. Bustamante, J. Sunyer, J. Heinrich, C. Flexeder, G. Koppelman, M. Kerkhof, E. S. Schultz, E. Melen, S. Birch, R. Granell, E. Kreiner-Møller, H. Bisgaard, J. Henderson, L. J. Palmer. 2168F A genome-wide meta-analysis identifies common variants in LOC and NOS2A associated with fractional exhaled nitric oxide in childhood. R. J. P. van der Valk, L. Duijts, M. T. Salam, J. Sunyer, E. Melen, G. Koppelman, A. Custovic, J. Heinrich, H. Bisgaard, A. J. Henderson, V. W. V. Jaddoe, J. C. de Jongste on behalf of GABRIEL and EArly Genetics and Lifecourse Epidemiology Consortia. 2169W Phenotypic dissection of bone mineral density facilitates the identification of skeletal site specificity on the genetic regulation of bone. J. P. Kemp, C. Medina-Gomez, K. Estrada, D. H. M. Heppe, M. C. Zillikens, N. J. Timpson, B. St. Pourcain, S. M. Ring, A. Hofman, V. W. V. Jaddoe, G. Davey Smith, A. G. Uitterlinden, J. H. Tobias, F. Rivadeneira, D. M. Evans. 2170T A multiethnic genome-wide association study of HIV-1 viral load among injection drug users. D. B. Hancock, J. L. Levy, G. P. Page, S. P. Novak, C. Glasheen, N. C. Gaddis, N. L. Saccone, J. P. Rice, Q. Wang, M. Moreau, K. Doheny, J. Romm, A. I. Brooks, L. J. Bierut, A. H. Kral, E. O. Johnson. 2171F Genetic variants near the NTRK2 gene are associated with weight at birth in twins. S. J. Metrustry, T. Spector, A. M. Valdes. 2172W A systematic meta-analysis of associations of genetic variants influencing protein phosphorylation with bone mineral density phenotypes. T. Niu, L. Zhang, F.-Y. Deng, J. Li, Y.-F. Pei, Y. Liu, H. Shen, Y.-Z. Liu, H.-W. Deng. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

203 POSTER SESSIONS T Chromosome X revisited: Variants in Xq21.1 associate with adult stature in a meta-analysis of 14,700 Finns. T. Tukiainen, J. Kettunen, A.-P. Sarin, J. G. Eriksson, A. Jula, V. Salomaa, O. T. Raitakari, M.-R. Järvelin, S. Ripatti. 2174F A genome-wide association study identifies two susceptibility loci for Crohn s disease in a Japanese population. K. Yamazaki, J. Umeno, A. Takahashi, A. Hirano, T. Johnson, N. Kumasaka, T. Morizono, N. Hosono, T. Kawaguchi, M. Takazoe, T. Yamada, Y. Suzuki, H. Tanaka, S. Motoya, M. Hosokawa, Y. Arimura, Y. Shinomura, T. Matsui, T. Matsumoto, M. Iida, T. Tsunoda, Y. Nakamura, N. Kamatani, M. Kubo. 2175W Large scale GWAS-meta analysis identifies novel variants associated with mean leukocyte telomere length. V. Codd, C. P. Nelson, E. Albrecht, P. van der Harst, M. Mangino, J. Deelen, J. L. Buxton, J. J. Hottenga, K. Fischer, I. Surakka, L. Broer, D. R. Nyholt, P. Salo, S. Hagg, P. J. Talmud, N. L. Pedersen, M. Perola, J. Kaprio, N. G. Martin, C. M. van Duijn, I. Hovatta, C. Gieger, A. Metspalu, D. I. Boomsma, M. R. Jarvelin, W. H. van Gilst, P. E. Slagboom, T. D. Spector, N. J. Samani, ENGAGE Consortium. 2176T Suggestive loci for osteoporosis: A variance components linkage analysis of extended pedigrees. S. C. Nguyen, N. D. Nguyen, J. C. Center, J. A. Eisman, T. V. Nguyen. 2177F Linkage analysis for identification of rare, highpenetrance celiac disease risk variants in the Finnish and Hungarian populations. E. Einarsdottir, K. Kurppa, K. Kaukinen, I. Korponay-Szabo, K. Mustalahti, M. Balogh, M. Mäki, P. Saavalainen. 2178W Whole genome linkage analysis to identify genes for childhood dental caries. N. Mukhopadhyay, M. Govil, Z. Zheng, E. Feingold, D. E. Weeks, J. R. Shaffer, X. Wang, R. J. Weyant, R. Crout, D. W. McNeil, M. L. Marazita. 2179T simqtl: Software for simulation of a complex etiological model under a set of epidemiological model parameters. J. D. Terwilliger, K. M. Weiss, J. H. Lee, B. Lambert. 2180F A hybrid likelihood model for sequence-based disease association studies. Y. Chen, H. Carter, J. Parla, M. Kramer, F. S. Goes, M. Pirooznia, P. P. Zandi, W. R. McCombie, J. B. Potash, R. Karchin. 2181W Novel methods for combined linkage and association analyses of complex quantitative traits in very large families sheds light on genetics of musical aptitude. Y. Huang, J. Oikkonen, L. Ukkola-Vuoti, P. Raijas, K. Karma, P. Onkamo, A. Thomas, I. Jarvela, V. J. Vieland. 2183F Rare and common variants in extracellular matrix gene, FBN2, are associated with Mendelian and multifactorial macular degenerative disease. R. R. Priya, X. Zhan, R. N. Fariss, C. F. Chakarova, K. E. Branham, M. M. Campos, J. S. Friedman, B. Brooks, H. K. Rajasimha, M. A. Morrison, S. G. Jacobson, M. L. Klein, E. Y. Chew, D. Stambolian, M. M. DeAngelis, S. S. Bhattacharya, J. R. Heckenlively, G. R. Abecasis, A. Swaroop. 2184W Genetic evidence for an ethnic diversity in the susceptibility to Ménière s disease. J. Ohmen, C. White, J. Wang, L. Fisher, H. Zhang, M. Derebery, R. Friedman. 2185T Genomics of response to healing following a meniscectomy. D. D. Vance, L. Wang, E. Rampersaud, T. Guettouche, W. H. Cade, R. L. Belton, B. P. Lesniak, J. M. Vance, M. A. Pericak-Vance, L. D. Kaplan. 2186F GWAS of host-pathogen interactions implicates methionine salvage and microtubules in regulation of inflammatory cell death. D. C. Ko, K. P. Shukla, S. I. Miller. 2187W An integrative approach to mapping complex, glycemic traits in skeletal muscle tissue. S. Keildson, J. Fadista, C. Ladenvall, A. K. Hedman, H.-F. Zheng, L. Groop, P. Franks, O. Hansson, C. M. Lindgren, MuTHER Consortium. 2188T -eqtl analysis of dysregulated interferonpathway genes identifies OAS1 as a novel candidate for susceptibility to Sjögren s syndrome. H. Li, J. A. Ice, J. A. Kelly, I. Adrianto, S. B. Glenn, K. S. Hefner, E. S. Vista, D. U. Stone, R. Gopalakrishnan, G. D. Houston, D. M. Lewis, M. D. Rohrer, P. Hughes, J. B. Harley, C. G. Montgomery, J. Chodosh, J. A. Lessard, J.-M. Anaya, B. M. Segal, N. L. Rhodus, L. Radfar, M. B. Frank, R. H. Scofield, C. J. Lessard, K. Moser Sivils. 2189F Integrative genomic analysis identifies multiple loci influencing the human immune response to influenza vaccination. L. M. Franco, K. L. Bucasas, J. M. Wells, D. Nino, X. Wang, G. E. Zapata, N. Arden, J. M. Quarles, M. S. Bray, R. B. Couch, J. W. Belmont, C. A. Shaw. 2190W Barrett s esophagus and esophageal adenocarcinoma show substantial polygenetic variance, with genetic overlap between the diseases. W. E. Ek, D. Whiteman, D. M. Levine, T. L. Vaughan, S. MacGregor on behalf of BEAGESS Study Investigators. 2191T Rare germline copy number variants in Hodgkin lymphoma families. M. Rotunno, M. L. McMaster, L. R. Goldin. 2192F The proportion of heritability of type 2 diabetes estimated through GWAS that is attributable to functional genetic variation. J. M. Torres, E. R. Gamazon, S. K. Das, H. M. Highland, G. I. Bell, C. L. Hanis, N. J. Cox. POSTER SESSIONS 2182T Linkage and genome-wide association studies reveal distinct facets of the genetic architecture of alopecia areata. L. Petukhova, A. M. Christiano. 2193W Proportion of heritability and implications of pleiotropy attributable to GWAS hits for ECG phenotypes in the Erasmus Rucphen Family Study. A. Isaacs, C. Silva, J. A. Kors, B. A. Oostra, C. M. van Duijn. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

204 202 POSTER SESSIONS 2194T The role of genes and life-course-related processes in onset of common diseases in late life. A. Kulminski, I. Culminskaya, K. Arbeev, S. Ukraintseva, L. Arbeeva, A. Yashin. 2195F Ancestry-directed sequence analysis for rare variants in admixed populations. E. Ziv, D. Hu. 2196W The convergence of functional genomics, heritability estimation and polygenic modeling: Emerging spectrum of allelic variation in bipolar disorder. E. R. Gamazon, H. K. Im, C. Liu, D. L. Nicolae, N. J. Cox. 2197T Contributions of cis and trans eqtls to the heritability of schizophrenia. C. Jumper, E. R. Gamazon, A. Konkashbaev, C. Liu, D. L. Nicolae, N. J. Cox. 2198F The contribution of sequencing-based GWAS in explaining the missing heritability of quantitative traits. E. Porcu, C. Sidore, M. Steri, F. Busonero, A. Mulas, M. Dei, S. Lai, M. G. Piras, S. Naitza, D. Schlessinger, G. Abecasis, S. Sanna, F. Cucca. 2199W Polygenic analysis shows that low frequency SNPs confer early onset myocardial infarction risk. E. Stahl, R. Do, B. Vilhjalmsson, N. Stitziel, S. Sunyaev, A. Price, R. M. Plenge, S. Kathiresan, S. Raychaudhuri. 2200T Ubiquitous polygenicity of human complex traits: Genome-wide analysis of 49 traits in Koreans. J. Yang, T. Lee, J. Kim, S. Cho, P. Visscher, H. Kim. 2201F Prediction of human height with large panels of SNPs: Insights into genetic architecture. Y. C. Klimentidis, A. I. Vazquez, G. de los Campos. 2202W Heritability estimation of height from common genetic variants in a large sample of African Americans. F. Chen, G. K. Chen, R. C. Millikan, E. M. John, C. B. Ambrosone, L. Berstein, W. Zheng, J. J. Hu, R. G. Ziegler, S. L. Deming, E. V. Bandera, W. J. Blot, S. S. Strom, S. I. Berndt, R. A. Kittles, B. A. Rybicki, W. Issacs, S. A. Ingles, J. L. Stanford, W. R. Diver, J. S. Witte, L. B. Signorello, S. J. Chanock, L. Le Marchand, L. N. Kolonel, B. E. Henderson, C. A. Haiman, D. O. Stram. 2203T Optimizing risk stratification to discover novel neuroblastoma genes. A. Goldenberg, B. Wang, S. Diskin, J. M. Maris, M. Irwin. 2204F Correlations between associated SNPs cause upward bias in whole genome-based heritability estimation. C. Li, C. Yang, J. Ferguson, J. Cho, H. Zhao. 2205W Enrichment of rare non-synonymous variants in 196 lipid-associated genes in subjects with extreme levels of HDL-C: Evidence for rare allele model in etiology of dyslipidemia. M. M. Motazacker, J. Peter, M. Treskes, J. A. Kuivenhoven, G. K. Hovingh. 2206T Missing heritability and the use of genome-wide expression data as an indicator of genetic variation in genome scans. P. Schliekelman, G. Sun, S. Zhang. 2207F Estimating the proportion of variation in susceptibility to PTSD captured by common SNPs. C. Yang, J. Gelernter, C. Li, H. Kranzler, L. Farrer, H. Zhao. 2208W Simulation-based study investigating missing heritability : A euphemism for the abject failure of modern genomics to elucidate the etiology of complex traits. J. H. Lee, R. Cheng, K. M. Weiss, T. Hiekkalinna, J. D. Terwilliger. 2209T A quantitative population genetic framework to constrain the range of genetic architectures underlying complex human traits. V. Agarwala, J. Flannick, S. Sunyaev, D. Altshuler. 2210F Multi-ethnic polygenic prediction in CARe and other cohorts contrasts the genetic architectures of height and body mass index. E. K. Speliotes, J. O Connell, R. Do, B. Vilhjalmsson, S. Pollack, Y. Gong, N. Patterson, M. Akylbekova, A. Cupples, M. Fornage, J. Hirschhorn, W. H. L. Kao, L. Lange, G. Lettre, M. Li, J. Mychaleckyj, S. Musani, G. Papanicolaou, J. I. Rotter, D. Siscovick, X. Zhu, J. G. Wilson,. GIANT Consortium, J. Johnson, P. I. W. de Bakker, S. Raychaudhuri, R. M. Plenge, A. Price, E. A. Stahl. 2211W Can ‘asthma genes’ predict asthma? J. A. Curtin, D. Belgrave, J. Hankinson, A. Custovic, A. Simpson. 2212T What is the total SNP-associated heritability for alcohol dependence? N. G. Martin, G. Zhu, P. A. Lind, A. C. Heath, P. A. F. Madden, M. L. Pergadia, G. W. Montgomery, J. B. Whitfield. 2213F A knockout mouse model for canine juvenile epilepsy. E. M. Nevalainen, E. Seppala, H. Lohi. 2214W ER stress response genes and their natural variation, discovered using the Drosophila model system. C. Y. Chow, M. F. Wolfner, A. G. Clark. 2215T Physical and genetic interactions between BBS genes and CEP290. Y. Zhang, K. Bugge, C. C. Searby, R. F. Mullins, S. Seo, V. C. Sheffield. 2216F Vacuolated lens-associated neural tube defects are regulated on a multigenic basis by Cdx and retinoic acid signaling pathway. B. Li, P. Matteson, M. Ababon, A. Q. Nato, T. Matise, V. Nanda, J. Millonig. 2217W HLA class-i supertypes are associated with specific M. tuberculosis strain infections. M. Salie, L. van der Merwe, M. Moller, M. Martin, X. Gao, R. Warren, M. Carrington, E. Hoal. 2218T Peripheral blood cell counts are heritable in a large, unselected rhesus macaque pedigree. A. Vinson, A. D. Mitchell, D. Toffey. 2219F A copy number variant at the KIT ligand locus confers risk for canine squamous cell carcinoma of the digit. E. A. Ostrander, B. Decker, E. Carlins, B. VonHoldt, G. Carpintero-Ramirez, H. G. Parker, R. K. Wayne, D. M. Karyadi. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

205 POSTER SESSIONS W Large-scale transcriptional and epigenetic changes bridge maternal nutritional imbalance and metabolic syndrome. X. Yang, L. Peterson, T. Fare, J. Zhu, R. Kleinhanz, C. Suver, A. M. Cumiskey, R. L. Rosa, A. Vosatka, M. Skinner, E. E. Schadt, P. Y. Lum. 2221T Gene expression profiling in mild traumatic brain injury, post-traumatic stress disorder, sleep disorders and depression among redeployed military personnel. H. Lee, D. Wang, R. Pierce, T. Baxter, R. Dionne, H. Kim, V. Mysliwiec, T. Barr. 2222F Genetics of obesity across development in a model system. C. A. Schmitt, S. Service, R. M. Cantor, A. J. Jasinska, M. J. Jorgensen, J. R. Kaplan, N. B. Freimer. 2232W Patterns of genetic expression in mental retardation associated or not with microcephaly. T. F. Almeida, D. V. Bernardo, C. R. D. C. Quaio, G. L. Yamamoto, E. D. F. Carvalho, C. A. Kim, D. R. Bertola. 2233T Molecular analysis of GABRA1 and EFHC1 genes in patients with juvenile myoclonic epilepsy and other idiopathic generalized epilepsies. C. V. Soler, M. C. Gonsales, F. A. Oliveira, L. E. Betting, F. Cendes, I. Lopes- Cendes. 2234F Genome-wide expression analysis of idiopathic scoliosis endophenotypes. K. Gorman, S. Bouhnik, Q. Yuan, C. Julien, A. Franco, K. Choquet, L. Suvarnan, M.-Y. Akoume, A. Moreau. POSTER SESSIONS 2223W Modeling 3D facial shape in relation to sex and genomic ancestry estimated from DNA. M. D. Shriver, P. Claes, D. K. Liberton, K. M. Rosana, E. E. Quillen, L. N. Pearson, B. McEvoy, M. Bauchet, H. Tang, G. Barsh, D. M. Absher, D. A. Puts, J. Rocha, S. Beleza, R. W. Pereira, J. K. Wagner, J. Boster. 2224T Endogenous DUX4 induces myotube-specific apoptosis in FSHD muscular dystrophy and is regulated by Wnt/b-catenin signaling. G. J. Block, D. Narayanan, A. M. Amell, L. M. Petek, D. G. Miller. 2225F Development of a novel Col3a1 transgenic mouse model for vascular Ehlers-Danlos syndrome. F. Malfait, Y. Kang, S. Symoens, P. Coucke, M. Renard, B. Guillemyn, J. De Backer, F. Branco-Madeira, W. Toussaint, L. Vanhoutte, S. Janssens, B. Descamps, C. Vanhove, P. Segers, B. Lambrecht, A. De Paepe. 2226W An integrative genetic and metabolomic analysis suggests altered phosphatidylcholine metabolism in asthma. J. S. Ried, H. Baurecht, F. Stückler, J. Krumsiek, J. Adamski, C. Gieger, J. Heinrich, M. Kabesch, A. Peters, E. Rodriguez, K. Suhre, R. Wang-Sattler, K. Strauch, H.-E. Wichmann, F. J. Theis, T. Illig, S. Weidinger. 2227T Genomic data integration reveals molecular modularity of Parkinson disease. A. Dumitriu, Y. Xia, R. H. Myers. 2228F Pathway analysis of the GENEVA Alcohol Consumption GWAS meta-analysis. O. Harari, A. Goate, GENEVA Alcohol Consumption Working Group. 2229W Pathway-based meta analysis of ulcerative colitis genome-wide association studies. C. Kao, Z. Wei, J. Li, W. Wang, J. Glessner, C. Cardinale, J. Bradfield, E. Frackelton, C. Kim, F. Mentch, H. Qui, S. Grant, R. Baldassano, H. Hakonarson, International IBD Genetics Consortium. 2230T Shared genetic variants between traits and diseases reveal novel disease risk factors. L. Li, D. Ruau, C. Patel, R. Chen, A. Butte. 2231F Comparison of pathways implicated in anticitrillunated peptide antibody positive and negative rheumatoid arthritis patients. P. Martin, S. Viatte, A. Brass, S. Eyre, Rheumatoid Arthritis Consortium for Immunochip. 2235W Molecular profiling of osteogenic disregulation in non-syndromic craniosynostosis: New insights from microarray and morphological studies. M. Barba, W. Lattanzi, G. Tamburrini, M. C. Geloso, L. Massimi, M. A. Puglisi, M. Caldarelli, C. Di Rocco, F. Michetti, C. Bernardini. 2236T Network-based genomic mapping highlights the influence of central-nervous system pathways on obesity. M. Nikpay, P. Lau, R. Dent, R. McPherson. 2237F A comprehensive knowledgebase of autism genetic evidence. Y. Huang, L. Xu, J. Li, M. Zhao, X. Tang, L. Wei. 2238W Mathematical modeling of the insulin signal transduction pathway for prediction of insulin sensitivity from expression data. C. K. Ho, J. C. Liao, G. Sriram, K. M. Dipple. 2239T Examining genetic risk factors of obesity: Pathway analysis of GWAS data. M. A. Simonson, M. C. Keller, M. B. McQueen. 2240F Hypothesis independent pathway analysis identifies biologic pathways implicated in POAG etiology. B. L. Yaspan, J. L. Wiggs, L. R. Pasquale, S. J. Loomis, J. H. Kang, D. L. Budenz, D. S. Friedman, D. Gaasterland, T. Gaasterland, R. K. Lee, P. R. Lichter, Y. Liu, C. A. McCarty, S. E. Moroi, L. M. Olson, J. E. Richards, T. Realini, J. S. Schuman, K. Singh, D. Vollrath, G. Wollstein, D. J. Zack, R. R. Allingham, M. A. Pericak- Vance, R. N. Weinreb, K. Zhang, M. A. Hauser, J. L. Haines. 2241W Selecting likely causal genes from genome-wide association studies of BMI and height by integrative network-based analysis. T. H. Pers, S. Vedantam, T. Esko, F. Day, S. Berndt, S. Gustafsson, A. E. Locke, A. R. Wood, B. Kahali, D. C. Croteau-Chonka, C. Powell, P. Dworzynski, C. E. Thomas, A. G. Pedersen, S. Brunak, A. Justice, K. L. Mohlke, E. Ingelsson, R. J. F. Loos, E. K. Speliotes, T. M. Frayling, J. N. Hirschhorn, Genetic Investigation of ANthropometric Traits Consortium. 2242T A systems biology approach to ionotropic GABAergic networks in epilepsy, a model of complex neurogenetic disease. M. Jaworski. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

206 204 POSTER SESSIONS 2243F P2RX7 SNPs and external apical root resoprtion during orthodontia. J. Hartsfield, G. Falcao-Alencar, J. Dempsey, E. Jacobson, G. Kluemper, D. Fardo, J. Macri, L. Morford. 2244W Pathway analysis of variation in DNA repair genes indicates involvement of repair of oxidative DNA lesions in human longevity. M. Soerensen, B. Debrabant, J. Mengel-From, T. Stevnsner, V. A. Bohr, K. Christensen, Q. Tan, L. Christiansen. 2245T Constructing endophenotypes of complex disease using nonnegative matrix factorization and adjusted Rand index. H. M. Wang, C. L. Hsiao, A. R. Hsieh, Y. C. Lin, S. J. Fann. 2246F Candidate genes of several complex diseases via an integrated analysis of GWAS and eqtl. C. Fuller, X. He, Y. Song, H. Li. 2247W Association study-based gene-set enrichment analysis identified biological pathways associated with fetal hemoglobin levels in sickle cell disease patients. G. Galarneau, S. Coady, M. Puggal, N. Jeffries, D. Paltoo, A. Kutlar, G. J. Papanicolaou, G. Lettre. 2248T Performances of single-snp and pathway-based analyses of genome-wide data to detect genetic factors shared by eosinophil and basophil counts in asthmaascertained families. C. Loucoubar, M. Brossard, P.-E. Sugier, A. Vaysse, P. Jeannin, M.-H. Dizier, M. Lathrop, E. Bouzigon, F. Demenais, EGEA Collaborative Group. 2249F Association of common genetic variants with hypoxemia among non-hispanic White and African American COPD cases highlights hematological disease genes. M. N. McDonald, M. H. Cho, E. Wan, P. Castaldi, D. A. Lomas, H. O. Coxson, L. D. Edwards, W. MacNee, J. Vestbo, J. C. Yates, A. Agusti, P. M. A. Calverley, B. Celli, C. Crim, S. Rennard, E. Wouters, P. Bakke, X. Kong, R. Tal-Singer, B. Miller, A. Gulsvik, E. A. Regan, B. J. Makke, C. Lange, J. E. Hokanson, J. D. Crapo, T. H. Beaty, E. K. Silverman, C. P. Hersh on behalf of ECLIPSE and COPDGene Coauthors. 2250W ICAM3 expression level integrates the effects of six MS susceptibility alleles: Dissecting a molecular cascade relevant to MS susceptibility. T. Raj, M. Kuchroo, L. B. Chibnik, L. Ottoboni, X. Hu, B. T. Keenan, S. Raychaudhuri, B. E. Stranger, P. L. De Jager. 2251T Random enrichment of minor alleles of common SNPs affects complex traits and diseases in model organisms and humans. S. Huang, X. Tan, J. Liang, C. Zeng, J. Zhang, J. Chen, L. Ma, A. Dogan, G. Brockmann, O. Goldmann, E. Medina, M. Xian, K. Yi, Y. Li, Q. Lu, Y. Huang, D. Wang, J. Yu, H. Guo, K. Xia, Z. Zhu, D. Yuan. 2252F Functional characterization of DcR3 and NF-kB in EBV transformed cell lines from IBD patients of different allelic background and role in disease pathogenesis. R. Pandey, C. J. Cardinale, S. Panossian, F. Wang, E. Frackelton, C. Kim, F. Mentch, R. Chiavacci, K. Kachelries, S. Grant, R. Baldassano, H. Hakonarson. 2253W Integrative analysis of whole-gene coexpression network and exome sequence data to characterize pathways relevant to rheumatoid arthritis. H. Nakaoka, S. Mitsunaga, H. Inoko, I. Inoue. 2254T Integrating genetic linkage analysis and computational prioritization in identifying host genetic factors response to influenza A virus infection. S. Bao, X. Zhou, X. Zhang, P. Tang, J. Zhou, Y. Li, K. To, Y. Song. 2255F Molecular markers of severe cerebral malaria: Expression of complement and Toll-like receptor pathway genes associates with the malaria severity in Mali. R. Sobota, J. Manning, A. Dara, A. Niangaly, A. Djimde, O. Doumbo, A. Kone, M. Thera, G. Vernet, P. Leissner, C. Plowe. 2256W Cross-ethnic gene co-expression network analysis in human adipose reveals novel triglyceride genes. D. Weissglas, B. E. Haas, S. Horvath, K. H. Pietiläinen, R. M. Cantor, E. Nikkola, A. Rissanen, M. Civelek, I. Cruz-Bautista, L. Riba, J. Kuusisto, J. Kaprio, T. Tusie-Luna, M. Laakso, C. A. Aguilar-Salinas, P. Pajukanta. 2257T Discovery and replication of nuclear genes influenced by mitochondrial genetic variation. J. Hall, W. Bush. 2258F Polygenic inheritance of paclitaxel-induced peripheral neuropathy driven by axon outgrowth gene sets. A. Chhibber, J. Mefford, S. A. Pendergrass, R. M. Plenge, M. D. Ritchie, E. A. Stahl, J. S. Witte, D. L. Kroetz. 2259W Association of adrenomedullin gene polymorphisms and lipid levels in Chinese population. S. Chen, X. Lu, L. Wang, H. Li, J. Huang, D. Gu. 2260T A high-throughput molecular assay for detection of renal graft acute cellular rejection using peripheral blood. M. Mikula, O. Zhukov, F. M. Hantash, N. Park, K. Zhang, J. R. Rion, P. Putheti, C. Snopkowski, A. Buller-Burckle, J. Popov, W. Sun, B. Crossley, M. P. Hernandez-Fuentes, S. Sacks, M. Suthanthiran, T. B. Strom, C. M. Strom, S. J. Naides. 2261F Protein interaction networks reveal novel autism risk genes within GWAS statistical noise. C. Correia, Y. Diekmann, G. Oliveira, J. B. Pereira- Leal, A. M. Vicente, Autism Genome Project. 2262W Systems biology in a non-human primate model: Transcriptomes of normal development in the vervet monkey. A. J. Jasinska, N. Tran, C. Blum, J. DeYoung, O.-W. Choi, Y. Huang, P. Thomas, E. Eskin, K. Dewar, J. Wasserscheid, G. M. Weinstock, W. Warren, M. Jorgensen, R. Cantor, R. Woods, G. Coppola, N. Freimer. 2263T Estrogen pathway polymorphisms in relation to primary open angle glaucoma in the GLAUGEN study and the NEIGHBOR consortium. S. Loomis, L. R. Pasquale, B. L. Yaspan, J. H. Kang, D. Gaasterland, T. Gaasterland, R. K. Lee, P. R. Lichter, Y. Liu, C. A. McCarty, S. E. Moroi, L. Olson, J. S. Schuman, K. Singh, D. Vollrath, G. Wollstein, D. J. Zack, R. R. Allingham, M. A. Pericak-Vance, R. N. Weinreb, K. Zhang, M. A. Hauser, J. E. Richards, J. L. Haines, J. L. Wiggs, NEIGHBOR Consortium. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

207 POSTER SESSIONS F Possible roles of mirna to regulate effective signaling network in controlling cell fate. M. Nomura, S. Kondo, T. Nagashima, Y. Suzuki, M. Okada- Hatakeyama. 2276F Genetic association to ERAP1 in psoriasis is confined to disease onset after puberty and not dependent on HLA-C*06. P. Nikamo, J. Lysell, L. Padyukov, I. Kockum, M. Ståhle. 2265W Unraveling the molecular mechanisms underlying the teratogenicity of Topamax (topiramate). S. K. Rafi, A. J. Olm-Shipman, I. Saadi. 2266T The CARTaGENE Genomics Project: Systems genetics of cardiometabolic phenotypes. Y. Idaghdour, J.-P. Goulet, J. Hussin, A. Hodgkinson, E. Gbeha, J.-C. Grenier, T. de Malliard, V. Bruat, E. Hip-Ki, C. Boileau, Y. Payette, P. Awadalla. 2267F Association of insulin-like growth factor-1 gene polymorphism in Kuwaiti Arab patients with rheumatoid arthritis. M. Haider, G. S. Dhaunsi, S. S. Uppal. 2268W Variations within ARID5B, CEBPE, and IKZF1 and risk of childhood leukemia. L. Hsu, A. Chokkalingam, C. Metayer, J. Wiemels, P. Buffler. 2269T Contribution of common PCSK1 genetic variants to obesity in a sample of 8,359 subjects from two multi-ethnic American populations. H. Choquet, J. Kasberger, A. Hamidovic, M. Fornage, E. Jorgenson. 2270F Association between IRF6 gene and nonsyndromic cleft lip and/or palate in Brazil. T. Felix, L. T. Souza, T. W. Kowalski, I. L. Monlleó, E. M. Ribeiro, J. Souza, G. F. Leal, A. C. Fett-Conte, V. Gil-da-Silva-Lopes. 2271W Validation of the PPP1R12B as a candidate gene for childhood asthma susceptibility. M. B. Freidin, A. V. Polonikov. 2272T Association of the SNP rs of the fat mass and obesity associated gene (FTO) with the risk for obesity in children from Yucatan, Mexico. L. Gonzalez-Herrera, N. Mendez-Dominguez, F. Herrera- Sanchez, G. Uicab-Pool, V. Hernandez-Escalante, L. Ruiz- Ortiz, G. Storey-Montalvo, J. Zavala-Castro. 2273F Shared genetic loci between leprosy and inflammatory bowel disease in Korean patients. Y. Jung, M. Hong, J. Baek, S. Yang, K. Song. 2274W Fatness related allelic variant near insulin receptor substrate 1 gene is associated with low low-density lipoprotein cholesterol in childhood and a better cardiometabolic profile in their adulthood: The Bogalusa Heart Study. S. Li, W. Chen, E. N. Smith, S. S. Murray, C. Fernandez, J. Xu, S. R. Srinivasan, N. J. Schork, G. S. Berenson. 2275T Genetic variants associate with nonalcoholic fatty liver disease in African and Hispanic Americans. S. K. Musani, N. D. Palmer, M. F. Feitosa, M. A. Jhun, L. M. Yerges-Armstrong, R. Hernaez, J. Liu, B. Kahali, J. J. Carr, T. B. Harris, A. V. Smith, L. E. Wagenknecht, I. B. Borecki, E. K. Speliotes, L. F. Bielak for Genetics of Obesity-Related Liver Disease Consortium. 2277W On the association of common polygenic variation with body mass index across adolescent development: A longitudinal twin study. R. E. Peterson, B. T. Webb, E. C. Prom-Wormley, J. L. Silberg, L. J. Eaves, H. H. Maes. 2278T Absence of the chromosome 16p11.2 duplication in metabolically normal, constitutionally thin individuals with extremely low BMI. J. Hager, N. Germain, E. Meugnier, B. Galusca, H. Vidal, B. Estour. 2279F Lack of association of genetic variants in PROX1, ADCY5, SLC2A2, DGKB-TMEM195, ADRA2A, CRY2, FADS1, IGF1 and C2CD4B with glucose- and insulin-related traits in Chinese adolescents. R. C. W. Ma, C. Tam, G. Jiang, J. Ho, V. Lam, Y. Wang, H. M. Lee, A. Kong, W. Y. So, J. Chan. 2280W Combined effects of genetic variants identified from genome-wide association studies increased risk of type 2 diabetes in Chinese. C. Tam, J. Ho, Y. Wang, V. Lam, M. Ng, R. Ma, W. So, J. Chan. 2281T AGRP SNPs and gender effects on obesity in African Americans. E. Shah, A. Patterson, U. Al-Alem, R. A. Kittles. 2282F Pleiotropic effects of obesity-susceptibility loci on metabolic traits: A meta-analysis of up to 37,874 individuals. J. van Vliet-Ostaptchouk, M. den Hoed, J. Luan, J.-H. Zhao, K. K. Ong, P. J. van der Most, A. Wong, R. Hardy, D. Kuh, M. M. van der Klauw, M. Bruinenberg, B. H. R. Wolffenbuttel, N. J. Wareham, H. Snieder, R. J. F. Loos. 2283W Investigation of celiac disease susceptibility variants in the Irish population using the immunochip. C. Coleman, E. Quinn, A. W. Ryan, J. Conroy, S. Ennis, V. Trimble, R. McManus. 2284T Risk alleles associated with ANA production in healthy population or transition to autoimmunity. E. Wakeland, P. Raj, E. Rai, Q. Z. Li, D. Karp, P. Doshi, N. Olsen, K. M. Sivils, J. James, J. Kelly, B. Lauwerys. 2285F Interleukin-18 genetic polymorphism and Kawasaki disease in Han Chinese children. H. Chi, M.-R. Chen, N.-C. Chiu, F.-Y. Huang, H.-W. Chan, S.-C. Chang, C.-L. Lin, Y.-J. Lee. 2286W Association between IL1A, IL1B and TNFA polymorphisms and glaucoma in a Brazilian population. M. B. Oliveira, J. P. C. Vasconcellos, V. P. Costa, M. B. Melo. 2287T Evaluation of new classification criteria for HLA-DRB1 alleles based on three amino acid positions (11, 71 and 74) in Japanese RA patients: Disease susceptibility and severity. S. Yoshida, K. Ikari, K. Yano, Y. Toyama, A. Taniguchi, H. Yamanaka, S. Momohara. 2288F Genetic susceptibility to leptospirosis in the Azorean island of São Miguel population. L. M. Esteves, S. M. Bulhıes, M. J. Brilhante, C. C. Branco, F. M. Mota, C. Paiva, M. L. Vieira, L. Mota-Vieira. POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

208 206 POSTER SESSIONS 2289W A replication study supports NOD2 and CCDC122 as leprosy susceptibility genes. H. Salomão, W. L. Silva, P. Medeiros, V. M. Fava, I. M. F. Dias-Baptista, M. L. C. Virmond, M. O. Moraes, M. T. Mira, A. C. Pereira-Latini. 2290T Positive association of apolipoprotein E4 polymorphism with recurrent pregnancy loss in Iranian patients. M. T. Akbari, N. Asgari. 2291F Investigation of rs and rs SNPs in a primary open-angle glaucoma Brazilian population. H. F. Nunes, M. B. Oliveira, J. P. C. Vasconcellos, V. P. Costa, M. B. de Melo. 2292W Role of genetic variation at the FTO gene in genetic susceptibility to osteoarthritis. K. Panoutsopoulou, S. Metrustry, S. Doherty, L. L. Laslett, R. A. Maciewicz, D. J. Hart, W. Zhang, K. R. Muir, M. Wheeler, arcogen Consortium, C. Cooper, T. Spector, F. M. Cicuttini, G. Jones, N. K. Arden, M. Doherty, E. Zeggini, A. Valdes. 2293T Association of COX-2, IL-1b and IL-1 RN gene polymorphisms with susceptibility to chronic periodontitis in North India population. G. Prakash, S. Ajay, K. K. Gupta, J. Dixit, D. Bali, B. Mittal. 2294F A variant of filaggrin are associated with susceptibility to food allergy in the Japanese population. T. Hirota, M. Ebisawa, T. Imai, Y. Suzuk, N. Shimojo, Y. Kohno, M. Kubo, M. Tamari. 2295W AKT1 fails to replicate as a longevity-associated gene in Danish and German nonagenarians and centenarians. M. Nygaard, M. Soerensen, F. Flachsbart, J. Mengel-From, Q. Tan, S. Schreiber, A. Nebel, K. Christensen, L. Christiansen. 2296T Association of HLA-DRB1 and HLA-DQB1 genes with asthma in the Spanish population. M. Pino-Yanes, A. Corrales, M. Acosta-Herrera, J. Cumplido, F. Sánchez- García, R. González, J. Figueroa, I. Sánchez-Machín, O. Acosta, A. Sánchez-Palacios, J. C. García-Robaina, J. Villar, E. G. Burchard, T. Carrillo, C. Flores. 2297F Turning the GWAS upside down: A PheWAS approach in studying human disease. S. Hebbring, S. Schrodi, Z. Ye, Z. Zhou, D. Page, M. Brilliant. 2298W Assessment of bias in an EMR-derived cohort. W. S. Bush, L. C. Dumitrescu, D. C. Crawford. 2299T Defining the use of electronic medical records in genetic studies of multiple sclerosis. M. F. Davis, J. L. McCauley, J. C. Denny, J. R. Oksenberg, S. L. Hauser, M. A. Pericak-Vance, J. L. Haines. 2300F The NINDS Repository: A public resource of biomaterials for genetic, mechanistic and biomarker discovery for neurological disorders. A. Scutti, M. Self, K. Reeves, J. Santana, S. Heil, C. Pérez, A. Nasuti, R. Corriveau, C. Tarn. 2301W Mutation of SLC45A3 in familial and sporadic Ménière s disease. C. A. Campbell, B. J. Boese, C. C. Della Santina, C. Li, N. C. Meyer, L. T. TeGrootenhuis, J. Webster, D. A. Stephan, H. Najmabadi, A. Danashi, A. P. May, K. Fredrickson, B. J. Gantz, J. P. Carey, L. B. Minor, M. R. Hansen, T. T. Harkins, R. J. H. Smith. 2302T Next-generation sequencing identifies genes dysregulated in otosclerotic stapes bone and provides a candidate gene set for filtering of whole exome sequence data in familial cases. J. L. Ziff, J. Lavy, H. Powell, S. Khalil, K. P. Steel, S. R. Saeed, S. J. Dawson. 2303F Dissection of healthy aging by whole genome and exome sequencing of supercentenarian genomes. X. Estivill, N. Badarinarayan, P. Rosenstiel, M. Bayés, S. Ossowski, C. Tornador, H. Blanche, G. Escaramís, M. Gut, S. Heath, F. Flachsbart, A. Nebel, M. Lathrop, A. Franke, M. Gratacòs, S. Schreiber, I. Gut, D. Trujillano. 2304W Whole exome sequencing cases: Fnding and testing with external controls. A. Hendricks on behalf of UK10K Statistics Group. 2305T Whole-exome sequencing study of four families with bipolar disorder. E. Elhaik, M. Pirooznia, F. S. Goes, J. Parla, R. Karchin, A. Chakravarti, P. P. Zandi, W. R. McCombie, J. B. Potash. 2306F Whole exome sequencing of five consanguineous families with juvenile myoclonic epilepsy. B. Ouled Amar Bencheikh, J. Gauthier, F. Lahjouji, l. Jouan, P. La Chance Touchette, K. Khaldi, H. Lamghari, C. Bourassa, D. Spiegelman, A. Dionne laporte, H. Daoud, F. Hamdan, H. Belaidi, O. Ouazzani, P. Dion, P. Cossette, G. Rouleau. 2307W GEnetics of Nephropathy an International Effort (GENIE): CNV analysis. Y. Meng, R. M. Salem, A. J. McKnight, E. P. Brennan, N. Sandholm, C. Forsblom, J. Florez, C. Godson, P.-H. Groop, A. P. Maxwell, J. N. Hirschhorn for GENIE Consortium. 2308T Whole genome sequencing identifies coding variants influencing canonical lipid species in Mexican American families. C. Bellis, P. J. Meikle, J. M. Weir, J. B. Jowett, T. M. Teslovich, G. Jun, S. Kumar, M. Almeida, J. M. Peralta, E. E. Quillen, C. Fuchsberger, A. R. Wood, T. M. Frayling, P. Cingolani, T. W. Blackwell, R. Sladek, G. Atzmon, J. Laramie, S. Lincoln, D. M. Lehman, G. Abecasis, M. C. Mahaney, T. D. Dyer, L. Almasy, R. Duggirala, J. Blangero, J. E. Curran. 2309F Identifying non-synonymous variants exhibiting pleiotropic effects on preeclampsia and CVD risk traits. M. P. Johnson, S. P. Brennecke, J. M. Peralta, T. D. Dyer, M. A. Almeida, J. M. Proffitt, C. E. East, A. G. Comuzzie, M. C. Mahaney, L. Almasy, J. E. Curran, J. Blangero, E. K. Moses. 2310W Analysis of coding variants identified from exome sequencing in diabetic and non-diabetic nephropathy genes in African Americans. J. N. Cooke, N. D. Palmer, M. C. Y. Ng, P. J. Hicks, J. A. Bonomo, J. M. Hester, C. D. Langefeld, B. I. Freedman, D. W. Bowden. 2311T Assessing the role of low-frequency variants in type 2 diabetes risk using exome sequencing of 2,000 Danish individuals. K. E. Lohmueller, T. Sparso, Q. B. Li, E. Andersson, N. Grarup, A. Albrechtsen, T. Korneliussen, W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

209 POSTER SESSIONS 207 K. Kristiansen, T. Hansen, G. Sanchez, I. Hallgrímsdóttir, J. Wang, R. Nielsen, O. Pedersen. 2312F Whole exome sequencing identifies a novel mutation within the FOXP3 gene in 2-generational family with inflammatory bowel disease. D. T. Okou, K. Mondal, L. J. Kobrynski, J. G. Mulle, D. Ramachandran, V. C. Patel, P. Bose, J. P. Waters, P. Sampath, D. J. Cutler, M. E. Zwick, S. Kugathasan. 2313W Identification of rare genetic variants that contribute to diabetic nephropathy in type 2 diabetes through family-based targeted exome sequencing. M. G. Pezzolesi, J. Jeong, A. M. Smiles, J. Skupien, J. C. Mychaleckyj, S. S. Rich, J. H. Warram, A. S. Krolewski. 2314T Exome sequencing and functional data identify PRDM1 and NPD52 as susceptibility factors in Crohn’s disease. A. Franke, D. Ellinghaus, H. Zhang, S. Schreiber, M. Parkes. 2315F Exome sequencing for Crohn’s disease pedigrees. B.-S. Petersen, Y. Zeissig, M. Kohl, S. Schreiber, S. Zeissig, A. Franke. 2316W Whole-exome sequencing of patients with isolated biliary atresia. E. A.-L. Tsai, S. Sukhadia, C. Grochowski, C.-F. Lin, O. Valladares, L.-S. Wang, L. Leonard, G. D. Schellenberg, K. M. Loomes, B. A. Haber, M. Devoto, N. B. Spinner. 2317T Identification of low-frequency and common variants associated with circulating levels of vitamin B 12 and folate. N. Grarup, C. H. Sandholt, P. Sulem, T. S. Ahluwalia, T. Sparsø, A. Albrechtsen, L. Husemoen, D. R. Witte, Y. Li, A. Linneberg, R. Nielsen, T. Jørgensen, J. Wang, T. Hansen, U. Thorsteinsdottir, K. Stefansson, O. Pedersen. 2318F Whole-exome sequencing in age-related macular degeneration (AMD) using a highly-discordant phenotype and genotype design: Evidence for novel loci underlying bilateral late AMD. W. K. Scott, W. H. Cade, M. D. Courtenay, P. L. Whitehead, I. Konidari, W. F. Hulme, S. G. Schwartz, J. L. Kovach, G. Wang, A. Agarwal, J. L. Haines, M. A. Pericak-Vance. 2319W Deep resequencing of GWAS loci identifies a novel rare variant in RNF186 associated with ulcerative colitis. P. Goyette, M. Beaudoin, G. Boucher, C. Stevens, K. S. Sin Lo, A. Alikashani, M. Ladouceur, M. A. Rivas, S. R. Brant, R. H. Duerr, D. P. McGovern, M. S. Silverberg, M. D Amato, A. Franke, S. Vermeire, G. Lettre, J. H. Cho, R. J. Xavier, M. J. Daly, J. D. Rioux, NIDDK and International IBD Genetics Consortia. 2320T Traits of human disease significance segregating in the non-human primate vervet. W. Warren, A. J. Jasinska, N. Tran, Y. Huang, K. Dewar, J. Kaplan, P. Minx, L. Hillier, R. K. Wilson, M. Nordborg, G. M. Weinstock, N. B. Freimer. 2321F Association and replication of rare allele windows within cis-regulatory regions to nearby gene expression. A. Fish, L. Wiley, W. Bush. Than, K. Nadeau, M. Snyder. 2323T Whole-genome deep-coverage sequencing of asthma genomes. M. A. R. Ferreira, C. S. Tang, G. Chenevix-Trench. 2324F Rare non-coding variant prioritization and burden testing in whole genome sequencing of complex traits. K. J. Gaulton, M. A. Rivas, M. van de Bunt, C. M. Lindgren, M. I. McCarthy, GoT2D Consortium. 2325W Deep sequencing of genomic regions associated with cleft lip susceptibility. C. Harris, E. Leslie, R. Fulton, T. Miner, E. Appelbaum, C. Fronick, M. Mead, D. Larson, M. Adela Mansilla, A. Lidral, L. Moreno, J. Hecht, M. Marazita, A. Scott, T. Beaty, J. Murray, R. Wilson, G. Weinstock. 2326T Exome sequencing identifies rare variants associated with the common pain disorder fibromyalgia. H. Hor, E. Docampo, R. Rabionet, M. Gut, M. Bayés, I. Gut, A. Collado, S. Ossowski, X. Estivill. 2327F Application of whole genome sequencing to identify susceptibility loci for polycystic ovary syndrome. G. Kosova, R. S. Legro, A. Dunaif, M. Urbanek. 2328W CYP1B1, MYOC and LTBP2 mutations in primary congenital glaucoma patients in the United States. S. Lim, K. Tran-Viet, T. Yanovitch, S. Freedman, T. Klemm, W. Call, C. Powell, A. Ravichandran, R. Metlapally, E. Nading, S. Rozen, T. Young. 2329T Enhancing sequencing lab workflows in the SardiNIA project. A. Maschio, F. Busonero, C. Sidore, E. A. Ketterer, E. B. Pedersen, A. M. Chidester, A. M. Gurkan, M. R. Coon, M. Dei, S. Lai, A. Mulas, M. G. Piras, M. Lobina, B. Tarrier, S. Sanna, C. A. Brennan, G. R. Abecasis, F. Cucca, R. H. Lyons. 2330F Whole-exome sequencing identifies novel risk variants for thrombotic storm. P. Whitehead, N. D. Dueker, G. Beecham, D. Hedges, A. Beecham, S. Hahn, N. Hofmann, J. W. Lawson, D. Erkan, L. R. Brandao, A. H. James, M. J. Manco-Johnson, R. Kulkarni, C. S. Kitchens, T. L. Ortel, J. M. Vance, M. A. Pericak-Vance. 2331W Identification of genetic modifiers associated with risk of stroke in children with sickle cell anemia. J. M. Flanagan, H. Linder, V. Sheehan, T. A. Howard, B. Aygun, J. S. Hankins, M. Wang, G. A. Neale, R. E. Ware. 2332T Implication of rare variants from European-derived adiposity loci in African Americans. J. Hester, P. Mudgal, J. Li, J. Xu, P. Hicks, B. Freedman, D. Bowden, M. Ng. 2333F Assessing the effect of rare variants on cancer drug-induced cytotoxicity phenotypes using whole genome sequence data. A. Tikhomirov, A. Pluzhnikov, C. R. King, A. Konkashbaev, E. Gamazon, M. E. Dolan, D. L. Nicolae, N. J. Cox. 2334W Detecting rare variant effects using extreme phenotype sampling in sequencing association studies. I. Barnett, S. Lee, X. Lin. 2335T Whole genome sequencing to identify rare genetic 2322W Asthma: An omics view through discordant monozygotic twins. R. Chen, S. Runyon, J. Li-Pook- W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present POSTER SESSIONS

210 208 POSTER SESSIONS variation responsible for resistance to HIV infection. P. R. Shea, K. Pelak, K. V. Shianna, D. Ge, D. B. Goldstein, NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI). 2336F Rare variants are strongly associated with age of menarche: First results from NHLBI-Exome Sequencing Project. K. L. Bucasas, G. T. Wang, P. L. Auer, M. Kan, J. M. Murabito, N. Franceschini, E. W. Demerath, K. L. Lunetta, A. Rodriguez, L. A. Lange, R. D. Jackson, S. M. Leal, NHLBI Exome Sequencing Project. 2337W Detecting rare variant associations with waist-to-hip ratio in NHLBI-ESP female cohorts. M. Kan, K. L. Bucasas, P. L. Auer, G. Wang, A. Rodriguez, J. Ellis, L. A. Cupples, Y. D. I. Chen, J. Dupuis, C. Fox, M. D. Gross, N. Heard-Costa, J. B. Meigs, J. S. Pankow, J. I. Rotter, D. Siscovick, J. G. Wilson, J. Shendure, R. Jackson, U. Peters, E. Whitsel, J. Zhong, D. Lin, L. Hsu, N. Franceschini, C. Carlson, K. E. North, L. A. Lange, A. P. Reiner, S. M. Leal, NHLBI Exome Sequencing Project. 2338T Identification of rare susceptibility variants for bipolar disorder by exome sequencing. C. Cruceanu, A. Ambalavanan, J. P. Lopez, J. Gauthier, D. Spiegelman, R. G. Lafrenière, P. Grof, M. Alda, G. Turecki, G. Rouleau. 2339F Deep sequencing in extended pedigrees reveals both common and rare non-synonymous variants influencing free triiodothyronine levels. J. E. Curran, S. Kumar, M. Almeida, J. M. Peralta, T. D. Dyer, T. M. Teslovich, G. Jun, C. Fuchsberger, A. R. Wood, T. M. Frayling, P. Cingolani, T. W. Blackwell, R. Sladek, G. Atzmon, S. P. Fowler, V. S. Farook, S. Puppala, J. Laramie, S. Lincoln, D. M. Lehman, G. R. Abecasis, R. Duggirala, J. Blangero. 2340W Exome sequencing to identify causal variants in a multiplex anencephaly family. D. Krupp, K. LaRocque- Abramson, K. Soldano, M. E. Garrett, A. E. Ashley-Koch, S. G. Gregory. 2341T Statistical power and effect size overestimation for combined single point and sequence kernel association tests in case-control studies. A. M. Valdes, F. Lari. 2342F Exome sequencing of cluster headache patients with Sardinian ancestry. L. Jouan, H. Daoud, B. Ouled Amar Bencheikh, A. Dionne-Laporte, D. Spiegelman, O. Diallo, E. Henrion, A. Szuto, J. Gauthier, P. A. Dion, M. Manchia, M. Alda, M. Del Zompo, G. A. Rouleau. 2343W Whole-genome sequencing analysis of more than 700 members of an extended pedigree. Y. Huang, A. Jasinska, V. Ramensky, N. Juretic, S. Service, N. Tran, R. Wilson, W. Warren, G. Weinstock, K. Dewar, N. Freimer. 2344T Sequencing Initiative Suomi: Identification of loss of function variants enriched in the Finnish population. K. Rehnström, E. T. Lim, A. Palotie on behalf of SISu Consortium. 2345F Diabetes related DNA mutations in Americans of Mexican origin with health disparities disclosed by next-gen sequencing. H. Q. Qu, Q. Li, Y. Lu, S. P. Fisher- Hoch, J. B. McCormick. H. Cho, M. Emond, R. A. Mathias, J. E. Hokanson, T. H. Beaty, N. Laird, C. Lange, K. C. Barnes, M. Bamshad, J. D. Crapo, E. K. Silverman, COPDGene Investigators, NHLBI Exome Sequencing Project. 2347T Meta-analyses of 6391 Danish individuals identify novel genetic loci associated with circulating levels of interleukin 18, insulin-like growth factorbinding protein 1, and heat shock 70kda protein 1b. T. S. Ahluwalia, N. Grarup, A. Albrechtsen, T. Sparsø, C. H. Sandholt, T. Lauritzen, D. R. Witte, T. Jørgensen, S. Hamren, M. Rowe, J. A. Kolberg, Y. Li, R. Nielsen, J. Wang, T. Hansen, O. Pedersen. 2348F Further analysis of a visual migraine aura locus on chromosome 9q21-q22 using exome sequencing. M. E. Hiekkala, M. A. Kaunisto, B. S. Winsvold, E. Hämäläinen, V. Artto, S. Vepsäläinen, M. Färkkilä, M. Kallela, A. Palotie, M. Wessman. 2349W Extensions of Human Variation Database in Japanese Integrated Database Project. A. Koike, N. Nishida, M. Yoshida, M. Kawashima, I. Inoue, S. Tsuji, K. Tokunaga. 2350T Genetic burden analysis of common associated variants in an isolate population of Southern Ostrobothnia and in extended multiplex families. V. Leppä, E. Jakkula, S. Ripatti, P.-A. Gourraud, K. Koivisto, P. Tienari, J. Kaprio, J. Eriksson, T. Lehtimäki, S. Koskinen, A. Palotie, J. Saarela. 2351F Assessing association between known PTPN22 and SUMO4 variants and type 1 diabetes in an Indian population. S. R. Manyam, U. Ratnamala, K. R. S. S. Rao, S. K. Nath, U. Radhakrishna. 2352W Duffy interaction with chromosome 4 determine the number of malaria episodes of individuals from Western Brazilian Amazon. J. Pescarini, L. M. Garrido, L. C. Pereira, R. G. M. Ferreira, L. M. A. Camargo, H. Krieger. 2353T Role of genetic variants of inflammatory genes with inflammation, malnutrition and susceptibility to end-stage renal disease in North Indian population. R. Sharma, R. K. Sharma, A. Saxena, S. Agrawal. 2354F Genetic predisposition to hypertension associates with increased risk of type 2 diabetes. Q. Qi, J. Forman, F. Hu, L. Qi. 2355W A systemic monitoring of cleft lip/palate in Hebei Province of China through a birth defect surveillance: A 15-year ( ) report. J.-Z. Zhu, N. Zhong. 2356T De novo and inherited copy number variants are a common cause of short stature. C. T. Thiel, D. Zahnleiter, U. Trautmann, A. B. Ekici, D. Wieczorek, E. 2346W Exome sequencing in severe COPD cases and resistant smoking controls from COPDGene. M. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

211 POSTER SESSIONS 209 Psychiatric Genetics, Neurogenetics and Neurodegeneration 2382W Association of Neuregulin 1 polymorphisms with a North Indian schizophrenia cohort. P. Kukshal, T. Bhatia, A. M. Bhagwat, R. E. Gur, R. C. Gur, S. N. Despande, V. L. Nimgaonkar, B. K. Thelma. 2370W Genetic association analysis between glycine cleavage system and schizophrenia. A. Yoshikawa, F. Nishimura, H. Hibino, K. Kohda, M. Tochigi, Y. Kawamura, T. Umekage, T. Sasaki, K. Kasai, C. Kakiuchi. 2371T A gene search for a new spinocerebellar ataxia. K. Ishikawa, N. Sato, Y. Hashimoto, M. Obayashi, H. Matsuo, H. Mizusawa. 2372F Combining genotype and gene expression data to unravel the genetics of major depressive disorder. S. Mostafavi, A. Battle, X. Zhu, S. Montgomery, J. B. Potash, M. M. Weissman, C. Haudenschild, C. McCormick, K. B. Beckman, R. Mei, A. Urban, D. Koller, D. F. Levinson. 2373W Transcript profile analysis of interleukin-1 beta gene in immature and adult zebrafish brain after seizure. P. G. Barbalho, F. R. Pinto, R. Mangolin, C. V. Maurer-Morelli. 2374T An integrative analysis pinpoints the pathogenesis of autism in the cerebellar vermis. D.-A. Clevert, S. Hochreiter. 2375F Common genetic variants in the GNB3, ARNTL, and NPAS2 loci are associated with objectively measured sleep traits in the elderly. D. S. Evans, N. Parimi, C. M. Nievergelt, K. L. Stone, T. Blackwell, S. Redline, S. Ancoli-Israel, E. S. Orwoll, S. R. Cummings, G. J. Tranah, Study of Osteoporotic Fractures and Osteoporotic Fractures in Men Study Groups. 2376W GWAS of alcohol abuse and dependence in the CATIE schizophrenia sample. V. F. Gonçalves, C. Zai, A. Paterson, L. Sun, J. L. Kennedy, J. Knight. 2377T Familial study of essential tremor at Columbia University. N. Hernandez, D. Tirri, L. Clark, E. Louis. 2378F Significant linkage of familial essential tremor to a novel locus on chromosome 5. J. E. Hicks, I. Konidari, J. R. Gilbert, W. K. Scott. 2383T Single nucleotide polymorphism fine mapping of the AVPR1A and OXTR loci reveals an OXTR association with a social memory endophenotype in probands with autism and their family members. A. Lori, I. Lee, J. F. Cubells, E. B. Binder, T. Lehtimäki, K. Puura, K. N. Conneely, L. J. Young, D. Skuse. 2384F The effects of ABCB1 polymorphisms and expression in perinatal depression. S. E. Parets, A. Lori, M. N. To, D. J. Newport, Z. N. Stowe, J. F. Cubells, A. K. Smith. 2385W HMNC1 and COMT gene polymorphism associated with postpartum depression. M. Romano-Silva, D. M. Miranda, P. Figueira, H. Correa, A. Alvim-Soares. 2386T Disrupted in schizophrenia 1 gene in autist patients. P. Sarda, J. Puechberty, M. Girard, A. Schneider, S. Taviaux, G. Lefort, D. Genevieve, A. Baghdadli. 2387F Phenotypic description of a child with a 10q23.1 deletion involving only NRG3. N. Sobreira, D. Avramopoulos, A. Pulver, B. Menten, B. Loeys, D. Valle. 2388W Determination of a rare variant and common variants in COMT for their involvement in the etiology of smoking dependence using Mid-South Tobacco Case-Control study samples. J. Yang, S. Wang, J. Z. Ma, T. J. Payne, M. D. Li. 2389T Copy number variations and agenesis of the corpus callosum, narrowing the recurrent 8p duplication interval. S. Esmaeeli Nieh, L. Fernandez, S. Sajan, E. Rider, P. Bukshpun, M. Wakahiro, J. T. Glessner, H. Hakonarson, S. L. Christian, W. B. Dobyns, E. H. Sherr. 2390F Serotonin transporter and receptor genes significantly impact nicotine dependence through genetic interactions in both European American and African American smokers. Z. Yang, C. Seneviratne, S. Wang, J. Z. Ma, T. J. Payne, J. Wang, M. D. Li. POSTER SESSIONS 2379W Autism and obesity: Is there any mechanistic connection? Z. Talebizadeh, M. Miralles. 2380T Haplotypes in the expression quantitative trait locus of interleukin-1 gene are associated with schizophrenia. M. Yoshida, K. Shiroiwa, K. Mouri, T. Sasada, H. Ishiguro, T. Inada, T. Arinami, O. Shirakawa, A. Hishimoto. 2381F Selection of candidate genes from linkage regions identified by the individual behavioral domains of autism spectrum disorders. A. Hare, J. Flax, Z. Fermano, M. Azaro, A. Seto, S. Y. Cheong, S. Buyske, B. Zimmerman-Bier, C. W. Bartlett, L. M. Brzustowicz. 2391W Genetic association of FKBP5 and CRHR1 with cortisol response to acute psychosocial stress in healthy adults. P. B. Mahon, P. P. Zandi, J. B. Potash, G. Nestadt, G. S. Wand. 2392T Associations of genetic polymorphisms in GRIN2B and GABRG2 with epilepsy susceptibility. C. Chen, C. Hung, Y. Kao, H. Liou. 2393F Interpreting the impact of mutations in SCN1A in the context of the most severe phenotypes amongst the generalized epilepsies with febrile seizures plus. M. Gonsales, P. Preto, M. A. Montenegro, M. M. Guerreiro, I. Lopes-Cendes. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

212 210 POSTER SESSIONS 2394W Next-generation sequencing and mutation screening in patients with familial mesial temporal lobe epilepsy: Investigating the chromosome 18p11.31 candidate locus. R. O. Santos, M. G. Borges, W. T. S. T. Ide, C. S. Rocha, R. Secolin, F. M. Artiguenave, C. L. Yasuda, A. C. Coan, M. E. Morita, F. Cendes, C. V. Maurer- Morelli, I. Lopes-Cendes. 2395T Characterization of a GEFS locus on 6q16.3q P. Szafranski, G. Von Allmen, B. Graham, S. Fogarty, A. A. Wilfong, S.-H. L. Kang, J. A. Fereira, W. Bi, J. A. Rosenfeld, L. G. Shaffer, S. W. Cheung, P. Stankiewicz, S. R. Lalani. 2396F Identifying disease genes in a large highly inbred consanguineous kindred from Turkey with idiopathic generalized epilepsy. F. N. Tuncer, S. A. Ugur Iseri, M. Calik, A. Iscan, G. Altiokka Uzun, U. Ozbek. 2397W Haplotype sharing and linkage analyses of multigenerational families with multiple sclerosis identified two chromosomal regions at 12p12.3-q12 and 16q21-q22.3. N. Matsunami, J. Stevens, L. Baird, B. Otterud, T. Varvil, T. Leppert, J. W. Rose, M. F. Leppert. 2398T Homozygosity mapping and exome sequencing identifies a gene on 11q24.2 for non-syndromic autosomal recessive intellectual disability in a Pakistani family. M. A. Rafiq, I. A. Balouch, K. Mittal, A. Mikhailov, M. Ayub, P. John, J. B. Vincent. 2399F Investigation of inherited copy number variations in extended Asperger syndrome families. M. Rossi, K. Rehnström, O. Pietiläinen, V. Leppä, T. Hiekkalinna, T. Nieminen-von Wendt, J. Barrett, I. Hovatta, S. Ripatti, A. Palotie. 2400W Gene analysis of familial and sporadic amyotrophic lateral sclerosis in Kyushu island of Japan. H. Furuya, A. Watanabe, H. Arahata, Y. Kawano, N. Fujii, H. Kikuchi, T. Fujiwara, T. Hokonohara, A. Iwaki, H. Shibata, Y. Fukumaki. 2401T Replication and generalization of genetic risk factors for depression, anxiety and panic attack in a population-based cohort with African, European and Mexican ancestries. J. N. Vega, K. Brown-Gentry, D. C. Crawford, T. A. Thornton-Wells. 2402F Genome-wide genetic studies of two consanguineous Pakistani multiplex pedigrees with schizophrenia and bipolar disorder. L. Xiong, S. Zhou, M. Christian, S. Provost, G. Asselin, Q. Brohi, M. Denton, R. Joober, L. E. DeLisi, G. A. Rouleau. 2403W A comprehensive genotype-phenotype study for CHRNA7 and CHRFAM7A in autism and intellectual disability. J. Ge, C. P. Schaaf, B. Zhang, A. L. Hall, M. Ali, S. Tinschert, U. Moog, A. Patel, P. Stankiewicz, A. L. Beaudet. 2404T Genetic variant of AKT1 and AKTIP associated with risk for late-onset depression in a Brazilian population. P. Pereira, M. Romano-Silva, M. Bicalho, E. Moraes, L. Malloy-Diniz, R. Nicolato, G. Pimenta, M. Mello, I. Bozzi, D. Miranda. 2405F Whole genome gene expression analysis of patients with 22q11 deletion syndrome and controls. K. K. Mantripragada, S. Chawner, M. B. van den Bree, R. G. Thomas, L. Bates, M. J. Owen, N. M. Wiliams. 2406W Fine-mapping of a region of interest in an extended family with multiple cases of autism. N. H. Chapman, K. Ankeman, R. Bernier, A. Estes, J. Munson, Z. Brkanac, W. Raskind, H. Coon, E. M. Wijsman. 2407T Investigation of GWAS findings in schizophrenia in a case control and a family sample from Indonesia. D. B. Wildenauer, W. Qin, M. D. B. Wildenauer, A. A. A. A. Kusumawhardani, B. Benyamin, S. G. Schwab, Indonesia Schizophrenia Genetics Consortium. 2408F Association analysis of mitochondrial DNA with suicidal behavior in schizophrenia. V. De Luca, A. Hassan, N. Hettige, C. Borlido, G. Polsinelli. 2409W Application of whole genome resequencing to identify the causative gene for an autosomal recessive oculopharyngodistal myopathy. M. Taira, H. Ishiura, Y. Ichikawa, B. Ahsan, Y. Fukuda, J. Mitsui, Y. Takahashi, K. Higasa, J. Yoshimura, I. Nishino, J. Shimizu, S. Murayama, E. Uyama, S. Morishita, J. Goto, S. Tsuji. 2410T Glucocerebrosidase mutations and dementia with Lewy bodies. L. Clark, K. Mirzozoda, J. H. Lee, R. Mayeux, L. S. Honig. 2411F Both ISRE and GAS interferon regulatory sequences found in chromosome 21 genes that are important in brain development and function. A. Jagadeesh, J. Nagappa, K. Sampson, H. North, L. Gutman, P. Lenferna de la Motte, M. Sellers, I. Dhanoya, D. Elyaman, J. Husni, L. E. Maroun. 2412W Genome-wide SNP analysis in a large consanguineous Turkish family reveals diagnosis as Unverricht-Lundborg disease. U. Ozbek, S. A. Ugur Iseri, F. N. Tuncer, I. Karacan, O. Ozdemir, G. Altiokka Uzun, M. Calik, A. Iscan. 2413T CRHR2 differentially modulates anxious temperament and plasma cortisol in a rhesus macaque model of childhood anxiety. G. L. Fawcett, M. Raveendran, J. A. Oler, A. S. Fox, S. E. Shelton, N. H. Kalin, J. M. Cheverud, D. M. Muzny, R. A. Gibbs, J. Rogers. 2414F Deregulation of neuronal cytoskeleton dynamics and androgen receptor gene pathways converge to aberrant synapse modulation in autism. K. Griesi Oliveira, D. Y. Sunaga, L. A. Cruz, E. Vadasz, M. R. Passos-Bueno. 2415W Calcium channel genes are associated with autism spectrum disorders. A. Lu, X. Dai, R. M. Cantor. 2416T X-chromosomal dystonia parkinsonism syndrome: Disease-specific sequence change DSC3 of TAF1/DYT3 multiple transcript system affects dopamine metabolism, vesicular transport, and synapse function. U. Mueller, D. Nolte, A. Hofmann, J. Schultze, T. Herzfeld. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

213 POSTER SESSIONS F Identification of microduplications of the ATRX gene in autism spectrum disorders. B. A. Oliveira, I. C. Conceição, C. Correia, P. Jorge, R. Santos, C. Café, J. Almeida, S. Mouga, F. Duque, G. Oliveira, A. M. Vicente. 2430W Increased error-related brain activity in youth with obsessive-compulsive disorder and unaffected siblings. G. Hanna, M. Carrasco, S. Harbin, J. Nienhuis, K. Fitzgerald, W. Gehring. 2418W Alanyl-tRNA synthetase mutation in dominant distal hereditary motor neuropathy and Charcot-Marie- Tooth disease. H. Takashima, A. Hashiguchi, J. Hu, Z. Zhao, Y. Higuchi, Y. Sakiyama, S. Tokunaga, Y. Okamoto, A. Yoshimura. 2419T Association of interleukin 6 gene polymorphisms with genetic susceptibilities to spastic tetraplegia in males: A case-control study. Q. Xing, M. Chen, T. Li, S. Lin, D. Bi, D. Zhu, Q. Shang, C. Ma, Q. Li, L. He, C. Zhu. 2420F ADCYAP1R1 genotype associates with posttraumatic stress symptoms in highly-traumatized African American females. L. M. Almli, K. B. Mercer, H. Feng, K. N. Conneely, B. Bradley, K. J. Ressler. 2421W EFHC2 shows female-specific association with autism. K. M. Tsang, Y. Cheng, J. F. Quinn, L. A. Weiss. 2431T Bipolarity in children with dyslexia. C. C. Mignot, F. X. Coude. 2432F Sequential processing deficit as a cognitive endophenotype in a multigenerational family with a severe speech sound disorder. B. Peter, K. Chapman, W. Raskind. 2433W Investigation of the role of serotonin and histamine pathways in the etiology of Tourette s syndrome. N. Sun, G. A. Heiman, L. Deng, M. Sheldon, J. C. Moore, A. J. Toro-Ramos, R. P. Hart, Z. Pang, J. A. Tischfield. 2434T Is DS22q11.2 distal a frequent etiology of mathematical learning disability? M. R. S. Carvalho, G. S. Vianna, L. F. S. Oliveira, B. C. Moreira, R. Sturzeneker, M. J. B. Aguiar, L. Leão, G. Paskulin, P. Zen, V. G. Haase. POSTER SESSIONS 2422T Ataxia with oculomotor apraxia type 2 in the Canadian aboriginal population: Expanding the disease distribution. E. R. Dola, J. N. Hartley, F. A. Booth, A. A. Mhanni. 2423F Lamin B1 is a novel regulator of myelin and mediates cell-autonomous neuropathology in a murine model of autosomal dominant leukodystrophy. M. Y. Heng, L. J. Ptacek, Y. H. Fu. 2424W Weight loss and low serum glucose levels in Machado-Joseph disease/spinocerebellar ataxia type 3. L. B. Jardim, G. N. Souza, A. D. Russo, T. L. Monte, R. M. Castilhos, A. F. S. Schuh, K. C. Donis, R. D Ávila, T. C. Gheno, G. V. Furtado, D. O. G. Souza, M. L. Saraiva-Pereira, L. V. C. Portela, C. R. M. Rieder, J. Dubois, J. A. M. Saute. 2425T Spinocerebellar ataxias with hypogonadism: Unraveling a rare group of neuroendocrinologic syndromes. C. Lourenco, C. Sobreira, V. Cintra, R. Giugliani, W. Marques, Jr. 2426F A neuronal cellular model of 22q11.2 DS exhibits disruptions to the mirna regulatory pathway and may increase the rate of schizophrenia in individuals with 22q11.2 DS. W. Manley, M. R. Ababon, P. G. Matteson, J. H. Millonig, L. M. Brzustowicz. 2427W Analysis of aging phenotypes from long-term expression of the progeria mutation in the brain. J. Baek, E. Schmidt, S. Rodriguez, C. Strandgren, B. Rozell, E. Mugnaini, M. Eriksson. 2428T Neurodegeneration and associated phenotypes in adults with 22q11.2 deletion syndrome. N. J. Butcher, T.-R. Kiehl, E. Chow, E. Rogaeva, A. E. Lang, A. S. Bassett. 2429F CXCR4 (chemokine receptor) expression analysis in chronic cuprizone mouse model of multiple sclerosis. G. Celikyapi, T. Avsar, G. Terzioglu, S. Uyar Bozkurt, G. Yanikkaya Demirel, A. Siva, T. Altug, E. Tahir Turanli. 2435F DNA methylation alterations in first-episode schizophrenia patients: Comprehensive analysis using peripheral blood cells. M. Nishioka, M. Bundo, S. Koike, C. Kakiuchi, T. Araki, K. Kasai, K. Iwamoto. 2436W Clinical and molecular genetic analysis in Ullrich congenital muscular dystrophy with dominant and recessive inheritance. B. Bozorgmehr, A. Kariminejad, S. Nafisi, U. Andoni, C. Gartioux, C. Ledevil, V. Allamand, P. Richard, M. Kariminejad. 2437T Epigenomes landscaped by histone H3K9me3 contribute to the pathology of Huntington s disease. J. Shin, J. Lee, Y. Hwang, W. Lee, J. Wie, K. Kim, M. Lee, D. Hwang, R. Ratan, N. Kowall, I. So, J. Kim, H. Ryu. 2438F Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia. M. S. LeDoux, J. Xiao, P. Hedera, A. Puschmann, D. Momč ilović, S. W. Wu. 2439W Incomplete penetrance versus variable expressivity in del 16p11.2: analysis of cognitive performance and social functioning as quantitative rather than dichotomous traits. A. Moreno-De-Luca, S. M. Myers, T. D. Challman, D. W. Evans, R. P. Goin-Kochel, E. Hanson, R. Bernier, L. Green Snyder, J. E. Spiro, W. K. Chung, J. N. Constantino, D. H. Ledbetter. 2440T How to best phenotype the broader autism phenotype in adults. T. Nishiyama, H. Kishino, K. Okada, S. Sakai, Y. Kamio, M. Suzuki, K. Adachi, S. Sumi, M. Kojima, S. Suzuki. 2441F Executive dysfunction and bipolarity disorder in school-age children with academic impairment. F. X. Coude, C. C. Mignot. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

214 212 POSTER SESSIONS 2442W Identification of a dosage-sensitive brain development gene within the critical region of 1q deletion syndrome. E. A. Erickson, W. A. Gahl, C. Boerkoel. 2443T Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy. D. S. K. Kim, I. B. S. Stanaway, R. R. Rajagopalan, G. W. Wernovsky, J. B. Bernbaum, C. B. S. Solot, N. B. Burnham, E. Z. Zackai, R. R. C. Clancy, S. C. N. Nicolson, M. G. Gerdes, D. A. Nickerson, H. H. Hakonarson, J. W. G. Gaynor, G. P. Jarvik. 2444F BrainSpan Atlas of the developing human brain. S. Sunkin, A. Bernard, T. Chen, C. Dang, S. Ding, A. Ebbert, O. Evgrafov, B. Fischl, M. Gerstein, D. Geschwind, A. Harmanci, J. Hohmann, S. Horvath, T. Hyde, A. Jones, Y. Kawasawa, R. Kitchen, J. Kleinman, P. Levitt, M. Li, S. Mane, N. Parikshak, A. Sboner, E. Shen, K. Smith, D. Weinberger, M. Hawrylycz, J. Knowles, N. Sestan, E. Lein. 2445W Knockdown of putative human autism genes, SHANK3 and SYNGAP1, produces common behavioral phenotypes in zebrafish. J. E. Dallman, R. Kozol, Q. Yan, H. N. Cukier, V. Mayo, A. J. Griswold, P. L. Whitehead, J. L. Haines, J. R. Gilbert, M. L. Cuccaro, E. R. Martin, M. A. Pericak-Vance. 2446T Short tandem repeat: A versatile marker in diagnosis of genetic disorders. S. Muthuswamy, A. Kumar, S. Agarwal. 2447F Genomic rearrangements in idiopathic cerebral palsy. R. Segel, H. Ben-Pazi, S. Zeligson, A. Fattal- Valevski, A. Aran, V. Gross, N. Shneebaum, D. Shmueli, D. Lev, L. Blumkin, S. Perlberg, E. Levy-Lahad. 2448W Gain of function Na v 1.7 mutations in patients with small fiber neuropathy. M. M. Gerrits, C. G. Faber, J. G. J. Hoeijmakers, D. M. L. Merckx, H. J. M. Smeets, S. D. Dib-Haij, S. G. Waxman, I. S. J. Merkies. 2449T A new screening test for Fragile X syndrome: Quantitative measurement of FMRP in dried blood spots. W. T. Brown, T. Adayev, R. Kascsak, R. Kascsak, C. Dobkin, S. Nolin, G. LaFauci. 2450F Disease specific pathway analysis in multiple sclerosis. T. Avsar, M. Durasi, S. Saip, O. U. Sezerman, A. Siva, E. Tahir Turanli. 2451W Diagnosing complex neurological disease by next-generation sequencing. K. Haugarvoll, S. Johansson, C. Tzoulis, B. I. Haukanes, C. Bredrup, H. Boman, P. M. Knappskog, L. A. Bindoff. 2452T Elevations of pro-inflammatory cytokines/ chemokines in patients with Aicardi-Goutières syndrome. J. L. Schmidt, A. Takanohashi, M. Prust, K. F. Gold, J. Wang, H. Gordish-Dressman, G. Rice, H. Gornall, M. Bloom, Y. J. Crow, P. Lebon, K. Nagaraju, A. Vanderver. 2453F Strategy for genotyping triplet repeats unstable sequences. S. Lindo_Samanamud, O. Ortega, M. Cornejo-Olivas, V. Marca, P. Mazzetti. 2454W Cleavage and polyadenylation specificity factor 1 regulates alternative splicing of interleukin 7 receptor exon 6. S. G. Gregory, I. Evsyukova, S. Bradrick, M. A. Garcia-Blanco. 2455T Functional analysis of ASNS variant identified in progressive microcephaly and brain atrophy patients. Y. Hitomi, E. K. Ruzzo, D. L. Silver, Y. Anikster, D. B. Goldstein. 2456F Impaired PPAR function underlies mitochondrial demise and neurodegeneration in Huntington s disease: Mechanistic basis and therapeutic implications. A. S. Dickey, V. V. Pineda, A. Buttgereit, M. M. Torres, T. Tsunemi, A. R. La Spada. 2457W NHEJ1 deficiency causes abnormal development of the cerebral cortex. B. El Waly, E. Buhler, M. R. Haddad, F. Watrin, L. Villard. 2458T KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 copy number variant. C. Golzio, J. Willer, M. E. Talkowski, E. C. Oh, Y. Taniguchi, S. Jacquemont, A. Reymond, M. Sun, A. Sawa, J. S. Gusella, A. Kamiya, J. S. Beckmann, N. Katsanis. 2459F mir-137 expression in schizophrenia and bipolar disorder brains. I. Guella, A. Sequeira, B. Rollins, F. Torri, M. P. Vawter, F. Macciardi. 2460W Common gene co-expression network analysis in schizophrenia and bipolar disorder. S. Hong, X. Chen, L. Jin, M. Xiong. 2461T Delusion-associated SNPs in NRG3 show regulatory potential, dysregulate NRG3 splicing and differentially bind to nuclear proteins. M. Zeledón, M. Taub, N. Eckart, R. Wang, M. Szymanski, P. Chen, A. Pulver, J. A. McGrath, P. Wolyniec, D. Avramopoulos, A. Sawa, D. Valle. 2462F USF1 regulates sleep and circadian traits in humans. H. M. Ollila, K. M. Rytkönen, K. Silander, M. Perola, V. Salomaa, M. Härmä, S. Puttonen, T. Porkka-Heiskanen, T. Paunio. 2463W Sodium channel mutations and epilepsy. J. E. O Brien, M. H. Meisler. 2464T Phosphorylation and regulation of FMRP. M. Santoro, S. Warren. 2465F The cis-regulatory effect of an Alzheimer s disease-associated polymorphic poly-t locus on expression of TOMM40 and APOE genes. O. Chiba- Falek, C. Linnertz, W. Gottschalk, D. Crenshaw, M. Lutz, J. Allen, S. Saith, M. Mihovilovic, L. Anderson, K. Welsh- Bohmer, A. Roses. 2466W Apolipoprotein E 4 as a factor in the evaluation of the genetic risk of Alzheimer s dementia in Filipinos. M. Daroy, C. Casingal, C. Mapua, D. Florendo, R. Matias, J. Dominguez, St. Luke s Dementia Study Group. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

215 POSTER SESSIONS T Functional testing of schizophrenia associated variants in NOS1AP. C. T. Ramirez, N. Wratten, Y. Huang, A. Dulencin, J. Millonig, V. J. Vieland, A. S. Bassett, L. M. Brzustowicz. 2480F The effects of inherited deletions on neurocognition in Canadian children with 22q11.2 deletion syndrome. E. Chow, A. Ho, D. Young, S. Langlois, C. Cytrabaum, A. Rideout, S. Dyack. 2468F MIR137, a candidate gene for schizophrenia: identification of targets and downstream effects. A. L. Collins, R. J. Bloom, Y. Kim, P. F. Sullivan. 2469W Schizophrenia mir137 risk genotype is associated with DLPFC hyperactivation. T. G. M. van Erp, I. Guella, M. P. Vawter, F. Torri, J. Fallon, F. Macciardi, S. G. Potkin. 2470T A loss-of-function variant in the human histidyltrna synthetase (HARS) gene is neurotoxic in vivo. A. Antonellis, A. Vester, G. Velez-Ruiz, H. M. McLaughlin, J. R. Lupski, K. Talbot, J. M. Vance, S. Zuchner, R. H. Roda, K. H. Fischbeck, L. G. Biesecker, G. Nicholson, A. A. Beg, NISC Comparative Sequencing Program, NIH. 2471F Neuronal expression of FIG4 and neurodegeneration. G. M. Lenk, C. J. Ferguson, M. H. Meisler. 2472W Global mapping of FUS-binding sites and global profiling of FUS-mediated RNA metabolisms in the mouse brain. K. Ohno, A. Masuda, S. Ishigaki, Y. Fujioka, Y. Iguchi, M. Katsuno, A. Shibata, F. Urano, G. Sobue. 2473T Sortilin-related receptor 1 is associated with cognitive impairment in Filipinos. C. R. Casingal, M. L. G. Daroy, C. A. Mapua, D. J. A. Florendo, J. C. Dominguez, St. Luke s Dementia Study Group. 2474F Identifying neuropsychological and cognitive endophenotypes of schizophrenia-associated exonic variants of NPAS3 and COMT. L. M. Luoma, G. Macintyre, F. B. Berry, D. LaFreniere, S. Purser, A. Beierbach, P. Tibbo, D. W. Cox, S. Purdon. 2475W Production of IL-6 is altered in primary human macrophages carrying 255Adel PARK2 gene variation. R. H. M. Sindeaux, A. C. Senegaglia, R. P. Munhoz, H. A. Teive, S. Raskin, M. M. A. Stefani, M. T. Mira, V. S. Sotomaior. 2476T Broadening the role of FMRP targets across autism spectrum disorders. J. Steinberg, C. Webber. 2477F Expanded hexanucleotide GGGGCC repeat RNA associated with ALS/FTD is sufficient to cause neurodegeneration. Z. Xu, M. Poidevin, H. Li, T. Wingo, P. Jin. 2478W An integrated and systematic approach to autism pathway analysis. Z. Lin, S. J. Sanders, J. K. Lowe, D. H. Geschwind, M. State, H. Zhao. 2481W Brain-derived neurotrophic factor (BDNF) Val66Met and adulthood chronic stress interact to affect depressive symptoms. R. Jiang, B. H. Brummett, M. A. Babyak, I. C. Siegler, R. B. Williams. 2482T mirna expression in the prefrontal cortex of suicide completers. J. P. Lopez, R. Lim, B. Labonte, C. Cruceanu, J. P. Yang, V. Yerko, C. Ernst, N. Mechawar, P. Pavlidis, G. Turecki. 2483F Distinct gene expression and DNA methylation perturbations in PTSD with severe child abuse versus no PTSD with no child abuse. D. Mehta, T. Klengel, K. N. Conneely, A. K. Smith, A. Altmann, M. Rex-Haffner, A. Loeschner, M. Gonik, K. B. Mercer, B. Bradley, B. Müller- Myshok, K. J. Ressler, E. B. Binder. 2484W Frequency of polymorphisms of the alcohol dehydrogenase enzyme (ADH1B and ADH1C) and aldehyde dehydrogenase enzyme (ALDH) in the Brazilian population. G. P. M. Antonialli, B. Coprerski, R. M. Minillo, M. P. Migliavacca, D. Brunoni, A. B. A. Perez. 2485T Serotonin transporter (SLC6A4) and receptor (5-HT2A) gene polymorphisms in healthy Brazilian individuals with diverse ethnic backgrounds. B. Coprerski, M. P. Micliavacca, A. B. A. Perez, A. P. P. Costa, D. Brunoni. 2486F Regulatory effects of genes associated with schizophrenia. N. Eckart, R. Wang, J. McGrath, P. Wolyniec, M. Zeledòn, M. Szymanski, A. Pulver, D. Valle, D. Avramopoulos. 2487W Genome-wide association study of 32,143 individuals reveals several novel associations in schizophrenia. C. O Dushlaine, S. Ripke, J. Moran, K. Chambert, P. Sklar, S. Purcell, C. Hultman, S. McCarroll, P. Sullivan, Swedish Schizophrenia Consortium. 2488T Genome-wide association study reveals genes influencing the rate of cognitive decline among persons with Alzheimer s disease are distinct from those associated with disease risk. R. Sherva, Y. Tripodis, D. Bennett, L. A. Chibnik, P. K. Crane, P. De Jager, L. B. Farrer, J. Shulman, R. C. Green. 2489F Genome-wide scan for copy number variation association with age at onset of Alzheimer s disease. K. Szigeti, D. Lal, Y. Li, R. Doody, K. Wilhelmsen, L. Yan, S. Liu, C. Ma, Texas Alzheimer Research and Care Consortium. POSTER SESSIONS 2479T RNA sequencing in ipsc-derived neurons identifies gene expression changes associated with 22q11.2 microdeletion syndrome. Y. Tian, S. Pasca, J. Ou, A. Krawisz, J. BernsteinJon, J. Rapoport, J. Hallmayer, S. Horvath, M. Pellegrini, R. Dolmetsch, D. Geschwind, ACE Genetics Consortium. 2490W Utilizing eqtl networks to identify genes relevant to autism in the 16p11.2 region. Y. Cheng, W. Lauren. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

216 214 POSTER SESSIONS 2491T A genomic instability model of autism: Global copy number burden associated with autism. N. Katiyar, S. Girirajan, A. Srikanth, K. H. Yeoh, S. J. Khoo, F. Tassone, R. Hansen, I. Hertz-Picciotto, E. E. Eichler, I. N. Pessah, S. B. Selleck, M. D. Ritchie. 2492F The impact of glutamate and gammaaminobutyric acid receptor signaling in non-syndromic autism. A. Mohamed-Hadley, D. Hadley, Z. Wu, C. Kao, A. Kini, J. Glessner, R. Pellegrino, C. Kim, K. Thomas, H. Hakonarson, AGP Consortium. 2493W Chromosome 15q11.2 is associated with schizophrenia risk in a set of patients. D. Rudd, M. Axelsen, S. Casey, S. Mugge, N. Andreasen, T. Wassink. 2494T Genome-wide copy number analysis on schizophrenia in Han Chinese. E. Wong, A. W. Butler, Q. Wang, S. S. Cherny, T. Li, P. C. Sham. 2495F Rare copy number variants in schizophrenia and bipolar disorder in a Latino population. C. Xu, A. N. Blackburn, S. Gonzalez, E. C. Villa, M. Ramirez, J. Zavala, M. Rodriguez, C. Camarillo, J. Ordonez, R. Armas, S. A. Contreras, R. J. Leach, D. Flores, D. Jerez, A. Ontiveros, H. Nicolini, D. Lehman, M. Escamilla. 2496W Genome-wide copy number variation analysis of narcolepsy in the Japanese population. M. Yamasaki, T. Miyagawa, H. Toyoda, K. Seik Soon, A. Koike, T. Sasaki, Y. Honda, M. Honda, K. Tokunaga. 2497T Integrating GWAS and protein-protein interaction network identifies a subnetwork implicated in alcohol dependence. S. Han, B. Z. Yang, H. Kranzler, F. Lindsay, H. Zhao, J. Gelernter. 2498F APP associated with late-onset Alzheimer disease in autopsy-confirmed dataset. T. Montine, G. W. Beecham, R. Rajbhandary, K. L. Hamilton, A. C. Naj, E. R. Martin, R. Mayeux, J. L. Haines, L. Farrer, G. Schellenberg, M. A. Pericak-Vance, Alzheimer s Disease Genetics Consortium. 2499W An association study comparing children with extreme high and extreme low obsessive-compulsive traits in the general population. P. D. Arnold, V. Sinopoli, J. Crosbie, L. Park, A. Dupuis, A. Paterson, R. J. Schachar. 2500T Irish high-density schizophrenia families are enriched for common polygenic effects. T. B. Bigdeli, S. A. Bacanu, B. T. Webb, B. S. Maher, D. L. Thiselton, B. Wormley, F. A. O Neill, D. Walsh, A. H. Fanous, B. P. Riley, K. S. Kendler. 2501F Genome-wide association study for maternal effects in autism. S. Buyske, E. S. Stenroos, W. G. Johnson. 2502W Analysis of putative pathogenic CNVs in autistic patients of Portuguese origin. I. C. Conceição, B. A. Oliveira, C. Correia, J. Coelho, C. Café, J. Almeida, S. Mouga, F. Duque, G. Oliveira, A. M. Vicente. 2503T GWAS identifies biologically relevant SNP associations with sexual partnering behavior. J. Gelernter, H. R. Kranzler, R. Sherva, R. Koesterer, L. Almasy, H. Zhao, L. A. Farrer. 2504F A genome-wide association study of alcohol dependence using a hybrid design. L. M. Hack, A. E. Adkins, B. T. Webb, B. S. Maher, D. G. Patterson, D. Walsh, C. A. Prescott, D. M. Dick, K. S. Kendler, B. P. Riley. 2505W Genetic analysis of tobacco use in the Swedish Twin Registry: Genome-wide association studies of cigarette and snus consumption. P. A. Lind, D. Cesarini, D. J. Benjamin, P. D. Koellinger, P. K. E. Magnusson, M. Johannesson, S. E. Medland. 2506T Genome-wide association study for intracranial aneurysm in the Japanese population. S. Low, A. Takahashi, M. Kubo, Y. Nakamura. 2507F Genome-wide association study identified susceptibility loci associated with nicotine dependence in a Japanese population. D. Nishizawa, K. Shinya, J. Hasegawa, N. Sato, F. Tanioka, H. Sugimura, K. Ikeda. 2508W Genome-wide meta-analysis of autism spectrum disorders (ASD) supports A2BP1 as an ASD candidate gene. Y. S. Park, J. Jaworski, I. Konidari, P. Whitehead, M. L. Cuccaro, E. R. Martin, J. L. Haines, M. A. Pericak-Vance. 2509T A polygenic analysis of autism, depression and schizophrenia risk alleles effect on reproductive fitness in the general population. R. A. Power, R. Uher, S. Ripke, C. M. Lewis, P. McGuffin, P. Lichtenstein, H. Wallum. 2510F Maternal genetic effects on autism risk: Results from the Early Markers for Autism study. J. F. Quinn, L. C. Croen, L. W. Weiss. 2511W Genome-wide pathway analysis in multiple cohorts implicates histone genes and inflammation in hippocampal atrophy. V. K. Ramanan, L. Shen, J. D. West, S. Kim, S. L. Risacher, K. Nho, Y. Wang, J. Wan, T. M. Foroud, L. A. Farrer, A. J. Saykin, Alzheimer s Disease Neuroimaging Initiative. 2512T Dissection of genetic architecture of bipolar disorder and schizophrenia: Results from a combined dataset of nearly 40,000 individuals. S. Ripke, D. M. Ruderfer, Psychiatric Genomics Consortium. 2513F The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Genome-wide association study of anxiety disorders. L. Shen, T. Hoffmann, M. Kvale, L. Sakoda, D. Ranatunga, L. Walter, S. Sciortino, D. Ludwig, Y. Banda, S. Hesselson, P. Kwok, R. Risch, C. Schaefer. 2514W Genome-wide association of structural MRI data in a large, normally developing, pediatric population. P. M. A. Sleiman, T. Satterthwaite, K. Ruparel, C. Kim, R. Chiavacci, M. E. Calkins, R. C. Gur, R. E. Gur, H. Hakonarson. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

217 POSTER SESSIONS T Gene-based analyses of attention deficit hyperactivity disorder GWAS data. I. D. Waldman, S. V. Faraone, Psychiatric Genomics Consortium: ADHD Subgroup. 2527T PET scans with [ 11 C]Flumazenil demonstrate a downregulation of the GABA A receptor availability in fragile X syndrome patients. F. Kooy, I. Heulens, C. D Hulst, N. Van der Aa, K. Van Laere. 2516F Genome-wide association study of bipolar disorder with a history of binge eating. S. J. Winham, S. McElroy, S. Crow, M. Frye, C. Colby, D. Walker, D.-S. Choi, M. Chauhan, J. M. Biernacka. 2517W Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in Border Collies. J. S. Yokoyama, E. T. Lam, A. L. Ruhe, C. A. Erdman, K. R. Robertson, A. A. Webb, D. C. Williams, M. L. Chang, M. K. Hytonen, H. Lohi, S. P. Hamilton, M. W. Neff. 2518T Genome-wide association study of Korean patients with autism spectrum disorder. H. Yoo, S. Kim, M. Park, I. Cho, S. Cho, B. Kim, J. Kim, S. Park, D. H. Geschwind, Y. Kwak, J. K. Lowe, Korean Autism Genetic Study Consortium. 2519F Combined genome-wide association study of Tourette syndrome and obsessive-compulsive disorder. D. Yu, TSAICG, IOCFGC, TS GWAS Consortium. 2520W Genome-wide significant evidence of association of a NUP153 missense variant with familial late-onset Alzheimer s disease. A. R. Parrado, B. Hooli, K. Mullin, L. Gotta, M. Mattheisen, C. Lange, L. Bertram, R. E. Tanzi. 2521T Beta-amyloid toxicity modifier genes and the risk of Alzheimer s disease. S. L. Rosenthal, X. Wang, M. M. Barmada, F. Y. Demirci, O. L. Lopez, M. I. Kamboh. 2522F WTCCC3 and GCAN: A genome-wide association scan of anorexia nervosa. V. Boraska, C. M. Bulik, D. A. Collier, P. F. Sullivan, E. Zeggini, Genetic Consortium for Anorexia Nervosa, Wellcome Trust Case Control Consortium W Novel approach to genome wide association meta-analysis for bipolar disorder reveals network of calcium channel and calcium signaling genes including epistatic effects. V. J. Vieland, K. A. Walters, K. Tobin, M. A. Azaro, A. Hare, Y. Huang, S.-C. Seok, T. Lehner, L. M. Brzustowicz. 2524T Constructing a prediction model for bipolar disorder using genome-wide association dataset. L. Chuang, C. Kao, P. Kuo. 2525F Involvement of the PTCHD1 gene in autism and intellectual disability. K. Mittal, K. Sritharan, J. Ross, A. Vaags, S. Scherer, A. Noor, J. Ellis, J. Vincent. 2526W Genetic schizophrenia risk variants jointly modulate total brain and white matter volume. A. F. Terwisscha van Scheltinga, S. C. Bakker, N. E. M. van Haren, E. M. Derks, J. E. Buizer-Voskamp, H. B. M. Boos, W. Cahn, H. E. Hulshoff Pol, S. Ripke, R. A. Ophoff, R. S. Kahn, Psychiatric GWAS Consortium. 2528F -Catenin is genetically and biologically associated with cortical cataract and future Alzheimerrelated structural and functional brain changes. G. Jun, J. A. Moncaster, C. Koutras, S. Seshadri, J. Buros, A. C. McKee, G. Levesque, P. A. Wolf, P. St. George-Hyslop, L. E. Goldstein, L. A. Farrer. 2529W Genes, brain and cognition in Down syndrome. J. R. Korenberg, L. Dai, S. Gouttard, J. Edgin, L. Nadel, E. K. Jeong, J. Anderson, G. Gerig. 2530T The non-invasive quantification of muscle degeneration in facioscapulohumeral muscular dystrophy with fast bound-pool fraction imaging: A 3.0T MRI study. H. R. Underhill, S. D. Friedman, V. L. Yarnykh, D. W. W. Shaw. 2531F Neural cell adhesion gene variation and brain morphometry in Alzheimer s disease. K. N. Holohan, S. L. Risacher, S. Swaminathan, J. D. West, M. Inlow, S. K. Conroy, V. Ramanan, T. Foroud, L. Shen, A. J. Saykin, Alzheimer s Disease Neuroimaging Initiative. 2532W Genetic interactions in focal adhesion and extracellular matrix pathways are associated with increase in ventricle size over time in the Alzheimer s Disease Neuroimaging Initiative cohort. M. Koran, S. Meda, M. Sivley, T. Thornton-Wells. 2533T Gene expression of GABA receptors and regulators in peripheral blood of a drug naïve firstepisode psychosis sample. V. K. Ota, C. S. Noto, A. Gadelha, M. L. Santoro, J. J. Mari, M. I. Melaragno, M. A. C. Smith, Q. Cordeiro, R. A. Bressan, S. I. Belangero. 2534F Effect of DRD1 rs4532 polymorphism on treatment-resistant schizophrenia. L..M. N. Spindola, V. K. Ota, A. Gadelha, A. F. Santos Filho, M. L. Santoro, D. M. Christofolini, F. T. S. Bellucco, J. J. Mari, M. I. Melaragno, M. A. C. Smith, R. A. Bressan, S. I. Belangero. 2535W Genetic risk factors (CHRNA5-CHRNA3-CHRNB4) and smoking cessation among hospitalized patients with acute myocardial infarction. L.-S. Chen, P. A. Lenzini, R. G. Bach, J. A. Spertus, L. J. Bierut, S. Cresci. 2536T STXBP1 and KCNQ2 are mutated in the majority of patients having Ohtahara syndrome that does not evolve into West syndrome. M. Milh, C. Lacoste, J. Sutera-Sardo, S. Auvin, M.-A. Barthez, A. Kaminska, A. Roubertie, D. Ville, C. Badens, B. Chabrol, L. Villard. 2537F Identification of LRRK2 p.g2019s disease modifiers. J. Trinh, D. Evans, C. Thompson, A. Donald, B. Shah, C. Szu Tu, F. Pishotta, C. Vilarino-Guell, R. Amouri, F. Hentati, R. Gibson, M. Farrer. POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

218 216 POSTER SESSIONS 2538W APOE and SNCA predict cognitive performance in Parkinson s disease. I. Mata, J. Leverenz, J. Trojanowski, A. Siderowf, B. Ritz, S. Rhodes, S. Factor, C. Wood-Siverio, J. Quinn, K. Chung, A. Espay, F. Revilla, K. Edwards, T. Montine, C. Zabetian. 2539T Abnormal responses to visual cortex activation in early stage Huntington disease patients using 31P-NMR spectroscopy. F. Mochel, T. M. Nguyen, D. Deelchand, D. Rinaldi, R. Valabregue, C. Wary, A. Durr, P. G. Henry. 2540F Sympathovagal balance in major depressive disorder: Influence of the BDNF and 5-HTTLPR (serotonin transporter) polymorphisms. A. Perez, A. R. Brunoni, B. Coprerski, D. Brunoni. 2541W Complex genetic scores can predict smoking cessation success and uptake of addictive substance use. G. Uhl, D. Sisto, D. Walther, W. Eaton, N. Ialongo, J. Rose. 2542T Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer s disease. N. Sule, Y. Li, I. Sheffer, C. Shaw, S. Powell, B. Dawson, S. Zaidi, K. Bucasas, J. Lupski, K. Wilhelmsen, R. Doody, K. Szigeti. 2543F Genetic modifiers of EEG brain activity during sleep in humans. S. Warby, H. E. Moore IV, O. Carrillo, J. Faraco, L. Lin, P. E. Peppard, T. Young, E. Mignot. 2544W The eqtls in language-related genes reveal a gene x gene interaction between BDNF and PCDH17 in the human brain. N. Li, S. Y. Cheong, M. Goode, S. A. Petrill, A. S. Bassett, L. M. Brzustowicz, C. W. Bartlett. 2545T The KIAA0319 gene is associated with language progression more than its level. S. Tezenas du Montcel, B. Feng, C. Barr, B. Falissard, M. Boivin, G. Dionne. 2546F Genome-wide association of executive function in a normally developing pediatric cohort. J. J. Connolly, P. M. A. Sleiman, R. C. Gur, M. E. Calkins, D. J. Abrams, R. M. Chiavacci, H. Qiu, F. D. Mentch, R. E. Gur, H. Hakonarson. 2547W Lipidomic profiling in Lewy body disease brain autopsies carrying lysosomal storage disorder gene variants. N. Parmalee, R. B. Chan, N. Park, E. P. Cortes, J. P. Vonsattel, K. Marder, L. Honig, J. H. Lee, G. Di Paolo, L. Clark. 2548T Study of plasma metabolites levels in discordant sibling pairs with autism. G. Malerba, R. Wang-Sattler, E. Trabetti, J. Adamski, P. Prandini, L. Xumerle, C. Zusi, A. Pasquali, R. Galavotti, P. F. Pignatti, T. Illig, Italian Autism Network. 2549F Genome scan for cognitive trait loci of dyslexia: Rapid naming and rapid switching of colors, letters and numbers. W. H. Raskind, K. Rubenstein, M. Matsushita, V. W. Berninger, E. M. Wijsman. 2550W Identification of genes and pathways regulated by epigenetic mechanisms in determining general intelligence (g) of inbred mice. P. Cha, K. Kobayashi, Y. Ando, C. Yu, S. Yamagata, K. Okada, J. Sese, K. Takao, T. Miyakawa, T. Toda. 2551T Quantitative linkage analysis with the endophenotype of social responsiveness identifies genome-wide significant linkage to a narrow region at 8p21.3. J. K. Lowe, D. M. Werling, J. N. Constantino, R. M. Cantor, D. H. Geschwind. 2552F Nonpathogenic traits: A study of susceptibility to sympathetic yawning. E. T. Cirulli, A. J. Bartholomew, D. B. Goldstein. 2553W Combined genetic analysis of DNA methylation and gene expression in schizophrenia identifies disease susceptibility loci. K. R. van Eijk, M. P. M. Boks, S. de Jong, E. Strengman, R. S. Kahn, S. Horvath, R. A. Ophoff. 2554T Infantile-onset dystonia and juvenile parkinsonism associated with spastic paraplegia caused by mutations in SPG11. G. Yoon, B. Baskin, M. Tarnopolsky, P. Rebeiro, B. Banwell, P. N. Ray. 2555F CNV detection from affymetrix axiom SNP chips in the early markers for autism study. G. Desachy, L. A. Croen, L. A. Weiss. 2556W Prioritization of whole exome sequencing in Parkinson disease. J. Farlow, H. Lin, K. Hetrick, H. Ling, E. Pugh, K. Bowling, P. Jain, Y. Liu, K. Doheny, R. M. Myers, T. Foroud. 2557T High yield of massively parallel sequencing in autosomal recessive intellectual disability in 23 families: Identification of the causative mutation in 12 families. R. Abou Jamra, R. Buchert, S. Uebe, H. Tawamie, S. H. Eck, E. Graf, K. Eberlein, J. Bauer, E. M. Dill, C. Blumentritt, F. F. Brockschmidt, M. M. Nöthen, J. Schumacher, A. Ekici, T. Strom, A. Reis. 2558F Identification of rare variants in childhood onset schizophrenia using exome sequencing. A. Ambalavanan, S. L. Girard, J. Gauthier, L. Xiong, A. Dionne-Laporte, D. Spiegelman, E. Henrion, O. Diallo, A. Levert, P. A. Dion, J. Rapoport, R. Joober, G. A. Rouleau. 2559W The Asp620Asn mutation of VPS35 in Japanese patients with typical Parkinson disease. M. Ando, M. Funayama, Y. Li, K. Kashihara, Y. Murakami, N. Ishizu, C. Toyoda, K. Noguchi, T. Hashimoto, N. Nakano, R. Sasaki, Y. Kokubo, S. Kuzuhara, K. Ogaki, C. Yamashita, H. Yoshino, H. Tomiyama, N. Hattori. 2560T The Autism Sequencing Consortium: Autism gene discovery in.20,000 exomes. J. D. Buxbaum, M. J. Daly, B. Devlin, T. Lehner, K. Roeder, M. W. State for Autism Sequencing Consortium. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

219 POSTER SESSIONS F Host genetic contribution to development of progressive multifocal leukoencephalopathy in the presence of immune suppression or immunemodulating drugs. J. P. Carulli, C. Sun, S. Szak, C. Organ, A. G. Day-Williams, C. Liu, H. H. Ackerman, T. Olsson, F. Piehl, P. Cinque, C. S. Tan, I. J. Koralnik, R. P. Viscidi, L. Gorelik, K. Simon, P. Duda, T. Harris, S. Bushnell, T. Compton. 2562W Disruption of a large intergenic non-coding RNA in subjects with neurodevelopmental disabilities. C. Ernst, M. Talkowski, J. Gusella, C. Morton. 2563T A rare haplotype containing two AKAP9 missense mutations identified by whole-exome sequencing is associated with risk of Alzheimer disease in African Americans. M. W. Logue, M. Schu, B. N. Vardarajan, J. Farrell, C. T. Baldwin, M. D. Fallin, L. A. Farrer. 2572T Targeted sequencing reveals association of sets of rare variants in novel candidate genes as well as cell adhesion and GTPase regulatory pathways with autism spectrum disorder. A. J. Griswold, J. M. Jaworski, S. H. Slifer, D. J. Hedges, R. H. Chung, W. F. Hulme, I. Konidari, P. L. Whitehead, J. A. Rantus, A. R. Diaz, Y. M. Pasco, R. M. Tursi, S. M. Williams, R. Menon, M. L. Cuccaro, E. R. Martin, J. L. Haines, J. R. Gilbert, J. P. Hussman, M. A. Pericak-Vance. 2573F Multiple hits in the neuregulin signaling pathway in schizophrenia. A. Hatzimanolis, J. McGrath, P. Wolyniec, V. K. Lasseter, G. Nestadt, R. Wang, T. Li, P. Wong, D. Valle, A. E. Pulver, D. Avramopoulos. 2574W Discovery of rare variants of candidate genes related to nicotine dependence through deep sequencing. S. Wang, W.-Y. Cui, Z. Yang, J. Yang, J. Z. Ma, T. J. Payne, C. A. Hodgkinson, D. Goldman, M. D. Li. POSTER SESSIONS 2564F Transposable elements in schizophrenia: evolutionary analysis and hypothesis for a functional role. F. Macciardi, M. Vawter, T. VanErp, F. Torri, B. Lerer, E. Osimo, J. A. Knowles, S. G. Potkin, C. Pato, M. Pato, S. Gaudi. 2565W Whole-genome sequencing of 50 LRRK2 G2019S carriers discordant for Parkinson s disease. C. Y. McLean, E. Drabant, E. Harrington, C. B. Do, N. Eriksson. 2566T Cumulative mutation load in PDZ domains 4, 5, and 6 of glutamate receptor interacting protein 2 in autism. T. Niranjan, A. Adamczyk, M. Han, R. Mejias, R. Rose, H. Bravo, M. Taub, C. Schwartz, D. Valle, R. Huganir, T. Wang. 2567F Candidate genes for sleepwalking from exome sequencing in an autosomal-dominant family. B. Schormair, H. Slawik, B. Frauscher, T. Mitterling, E. Graf, T. Wieland, B. Högl, T. M. Strom, M. Wiegand, T. Meitinger, J. Winkelmann. 2568W Rare variants in GWAS loci of restless legs syndrome. E. C. Schulte, F. Knauf, B. Schormair, P. Lichtner, C. Trenkwalder, B. Högl, B. Frauscher, K. Berger, I. Fietze, N. Gross, K. Stiasny-Kolster, M. Hornyak, W. Oertel, C. G. Bachmann, W. Paulus, A. Zimprich, A. Peters, C. Gieger, B. Müller-Myshok, T. Meitinger, J. Winkelmann. 2569T Exome analysis for early-onset amyotrophic lateral sclerosis with autosomal recessive mode of inheritance. Y. Takahashi, K. Higasa, S. Takagi, T. Kurita, H. Ishiura, J. Mitsui, Y. Fukuda, J. Yoshimura, T. L. Saito, S. Morishita, J. Goto, S. Tsuji. 2570F Identification of candidate genes through analysis of copy number variation in autism families from Austria. J. B. Vincent, G. Egger, A. Lionel, H. Mahmood, A. Mikhailov, K. Roetzer, C. Windpassinger, W. Kaschnitz, S. W. Scherer, E. Petek. 2571W Genetic and functional study of the disks largeassociated protein 2 (DLGAP2) gene as a candidate gene of schizophrenia. M. Cheng, J. Li, S. Luu, S. Hsu, T. Hu, H. Tsai, C. Chen. 2575T Rare deletions at the gephyrin (GPHN) locus in autism spectrum disorder and schizophrenia. A. C. Lionel, A. K. Vaags, D. Sato, M. J. Gazzellone, H. Y. Chen, G. Costain, G. Egger, S. Walker, A. Prasad, C. R. Marshall, E. B. Mitchell, C. Windpassinger, J. B. Vincent, B. A. Fernandez, S. Kirmani, J. C. Hodge, A. S. Bassett, S. W. Scherer. 2576F Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. J. G. Mulle, A. E. Pulver, J. M. McGrath, P. Wolyniec, A. F. Dodd, D. J. Cutler, J. Sebat, D. Malhotra, G. Nestadt, D. F. Conrad, C. P. Barnes, M. Hurles, M. Ikeda, N. Iwata, D. Levinson, P. V. Gejman, A. R. Sanders, J. Duan, A. A. Mitchell, I. Peter, P. Sklar, C. T. O Dushlaine, D. Grozeva, M. C. O Donovan, M. J. Owen, C. M. Hultman, A. K. Kähler, P. F. Sullivan, G. Kirov, S. T. Warren, Molecular Genetics of Schizophrenia Consortium. 2577W Assessing the impact of different types of de novo rare variation in whole-exome sequenced autism spectrum disorders trio families. D. Pinto, M. Fromer, A. Goldberg, S. M. Purcell, P. Sklar, E. Boerwinkle, M. J. Daly, B. Devlin, E. H. Cook, K. Roeder, R. A. Gibbs, G. D. Schellenberg, J. S. Sutcliffe, M. W. State, J. D. Buxbaum on behalf of ARRA Autism Sequencing Consortium and Autism Sequencing Consortium. 2578T Etiologic rare variants in autism multiplex families: Exome and CNVs analyses. C. Toma, A. Tristán, A. Hervás, B. Torrico, R. Valdés-Mas, N. Balmaña, M. Maristany, X. S. Puente, M. Bayés, B. Cormand. 2579F Utility of a comprehensive multi-gene testing panel for epilepsy and evaluation of the expectations for whole exome sequencing in these disorders. G. Richard, E. Butler, D. McKnight, K. Retterer, A. Shanmugham, R. Rubenstein, K. Hruska, E. Haverfield, S. Aradhya. 2580W Rare variants within PAX6 enhancer elements are enriched in rolandic epilepsy. L. Addis, T. Chiang, A. Derkach, S. Newhouse, S. Dobbins, I. Tomlinson, R. Houlston, L. J. Strug, D. K. Pal. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

220 218 POSTER SESSIONS 2581T Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. H.-Y. Lee, Y. Huang, N. Bruneau, M. Hermann, E. Quinn, J. Maas, R. Edwards, K. Bhatia, M. K. Bruno, H. Houlden, J. Jankovic, W. Lee, U. Müller, B.-W. Soong, K. J. Swoboda, N. Wood, M. Hanna, A. Bowcock, P. Szepetowski, Y.-H. Fu, L. J. Ptacek. 2582F Identification of rare variants under an alcoholism susceptibility linkage peak in a COGA family using whole exome sequencing. M. Kapoor, J. Wang, A. Hinrichs, S. Bertelsen, J. Budde, A. Agrawal, J. Tischfield, L. Almasy, M. Schuckit, L. Bierut, A. Goate. 2583W Deep resequencing of 9 confirmed late-onset Alzheimer disease loci identifies multiple genomic regions with potentially functional variants. J. R. Gilbert, A. C. Naj, L. Wang, M. A. Kohli, K. L. Hamilton, R. Rajbhandary, P. L. Whitehead, R. M. Carney, B. Levin, E. A. Crocco, C. B. Wright, G. W. Beecham, E. R. Martin, S. Zuchner, J. L. Haines, M. A. Pericak-Vance. 2584T Whole exome sequencing in childhood-onset schizophrenia. K. Ahn, H. Sung, T. Anderson, Y. Yao, J. Rapoport. 2585F Complete genome sequence based genetic analysis of monozygotic twins discordant for schizophrenia. C. Castellani, R. O Reilly, S. Singh. 2586W Exome sequencing of extended pedigrees with late-onset Alzheimer disease identifies TTC3 as a candidate gene for AD. K. Hamilton, M. A. Kohli, A. C. Naj, R. Rajbhandary, T. Plitnik, K. John-Williams, P. L. Whitehead, J. R. Gilbert, E. R. Martin, G. W. Beecham, J. L. Haines, S. Zuchner, M. A. Pericak-Vance. 2587T Exome sequencing reveals de novo gene disruptions in children on the autistic spectrum. I. Iossifov, M. Ronemus, D. Levy, Z. Wang, I. Hakker, J. Rosenbaum, B. Yamrom, Y. Lee, G. Narzisi, A. Leotta, J. Kendall, E. Grabowska, B. Ma, L. Rodgers, J. Troge, P. Andrews, E. Ghiban, J. Parla, R. Demeter, L. L. Fulton, R. S. Fulton, V. J. Magrini, K. Ye, J. C. Darnell, R. B. Darnell, E. R. Mardis, R. K. Wilson, M. C. Schatz, W. R. McCombie, M. Wigler. 2588F Secretin receptor and the associated molecular processes relevant to autism spectrum disorder. K. Kojima, T. Yamagata, A. Matsumoto, M. Saito, E. F. Jimbo, M. Y. Momoi. 2589W Exome sequencing of multiplex, schizophrenic families implicate variants from chromosome 5q in neurocognitive performance. M. Z. Kos, M. A. Carless, J. Peralta, E. E. Quillen, R. C. Gur, M. F. Pogue-Geile, K. Prasad, J. Blangero, V. L. Nimgaonkar, R. E. Gur, L. Almasy. 2590T Mining for rare genetic variation underlying psychiatric disorders using family-based sequencing. S. McCarthy, J. Badner, D. Morris, M. Ayub, M. Kramer, D. Blackwood, A. Corvin, W. Byerley, W. R. McCombie. 2591F Identification of the causative gene for SPG27 by exome capture. A. Noreau, I. A. Meijer, S. L. Girard, D. Spiegelman, A. Szuto, P. Cossette, P. A. Dion, G. A. Rouleau. 2592W DEC2 gene mutations associated with distinct sleep phenotypes and sleep length. R. Pellegrino, I. H. Kavakli, N. Goel, C. Cardinale, D. Dinges, S. Tufik, J. Hogenesh, A. Pack, H. Hakonarson. 2593T Common and rare variants in obsessivecompulsive disorder identified by exome and targeted resequencing. D. Trujillano, S. Ossowski, P. Alonso, C. Tornador, J. M. Menchón, M. Gratacòs. 2594F Deep whole genome sequencing in 18 Irish individuals with schizophrenia. B. T. Webb, E. Loken, T. B. Bigdeli, B. Wormley, F. A. O Neill, D. Walsh, K. S. Kendler, B. P. Riley. 2595W The genetic architecture of severe nonsyndromic sporadic intellectual disability. T. Wieland, D. Wieczorek, E. Graf, S. Endele, T. Schwarzmayr, J. Beygo, N. Di Donato, A. Dufke, M. Hempel, D. Horn, P. Joset, A. Röpke, U. Moog, E. Wohlleber, C. Zweier, A. B. Ekici, A. M. Zink, A. Rump, C. Meisinger, H. Grallert, H. Sticht, A. Schenck, H. Engels, G. Rappold, P. Wieacker, O. Riess, T. Meitinger, A. Reis, T. M. Strom, A. Rauch. 2596T A spectrum of mutations in 12 PLP1-related disorders in patients from SARAH network of rehabilitation hospitals in Brazil. S. C. L. Santos, D. R. Carvalho, R. I. Takata, C. E. Speck-Martins. 2597F Association between the NMDA receptor subunit 2B gene (GRIN2B) gene and Alzheimer s disease. F. Trecroci, R. Cittadella, M. Liguori, F. Condino, P. Spadafora, E. V. De Marco, G. Di Palma, V. Andreoli. 2598W Rare missense variants in CHRNA5 and CHRNB3 are associated with increased risk of alcohol and cocaine dependence. G. Haller, J. Budde, M. Kapoor, A. Agrawal, H. Edenberg, J. Kramer, L. Bierut, A. Goate. 2599T Excess of rare variants from targeted resequencing of the NKAPL gene in schizophrenia. E. K. Loken, D. Brohawn, D. Walsh, F. A. O Neill, K. S. Kendler, B. P. Riley. 2600F Exome sequencing of singleton trios and quads to reveal de novo mutations in schizophrenia. A. C. Watts, T. Walsh, M. K. Lee, S. Gulsuner, A. M. Thornton, J. McClellan, M. C. King, Genes in Schizophrenia (GENESIS) Consortium. 2601W Novel missense mutations and partial deficiency of collagen VI in Ullrich congenital muscular dystrophy. J. Yuan, I. Higuchi, Y. Sakiyama, Y. Inamori, E. Matsuura, Y. Higuchi, A. Yoshimura, A. Hashiguchi, K. Higashi, Y. Koreeda, K. Arimura, H. Takashima. 2602T Searching for the genes of Tourette s: The Tourette International Collaborative Genetics Study. G. A. Heiman, T. V. Fernandez, P. J. Hoekstra, A. Dietrich, R. A. King, M. W. State, J. A. Tischfield, TIC Genetics Team. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

221 POSTER SESSIONS F Evidence for involvement of EIF4G1, not VPS35 variations in Parkinson disease. J. Vance, K. Nuytemans, G. Bademci, V. Inchausti, S. Zuchner, A. Dressen, C. Jauregio, D. D. Kinnamon, A. Mehta, Y. Pasco, A. Aviram, A. Diaz, L. Wang, F. Nahab, C. Singer, W. Hulme, I. Konidari, Y. Edwards, G. Beecham, E. R. Martin, W. K. Scott. 2604W Revealing the complex nature of a monogenic disease: Exome sequencing of Rett syndrome. F. Ariani, M. A. Mencarelli, E. Grillo, L. Bianciardi, I. Meloni, C. Di Marco, C. Lo Rizzo, F. Mari, A. Renieri. 2605T De novo indels in autism spectrum disorders. S. Dong, S. Sanders, A. J. Willsey, M. Murtha, N. DiLullo, L. Wei, M. State. 2606F Resequencing and promoter methylation analysis of the dopamine D2 receptor gene in schizophrenia. Y. Chuang, M. Cheng, C. Lu, M. Tsai, Y. Shen, S. Hsu, C. Chen. 2607W A comprehensive genetic analysis of 421 Japanese patients with Charcot-Marie-Tooth disease using DNA microarray chips. A. Hashiguchi, A. Yoshimura, Y. Higuchi, T. Nakamura, S. Tokunaga, Y. Okamoto, H. Takashima. 2608T A new frameshif mutation in the dopamine receptor D4 exon III VNTR 7-repeat allele. D. S. S. Lobo, M. Tampakeras, N. Freeman, J. L. Kennedy. 2615F Data sharing in the genomic age: Genome Variant Database for Neuromuscular Diseases. M. Gonzalez, R. F. Acosta Lebrigio, S. Zuchner. 2616W X-linked Charcot-Marie-Tooth disease type 1 in Japan: Genetic, clinical, and electrophysiological study of 33 cases. Y. Higuchi, A. Yoshimura, T. Nakamura, S. Tokunaga, A. Hashiguchi, Y. Okamoto, H. Takashima. 2617T De novo mutations in autism spectrum disorders revealed by whole genome sequencing. Y. Jiang, X. Jin, J. Yu, R. K. Yuen, D. Cao, M. Wang, S. Walker, L. Lau, D. Merico, Y. Shi, Q. Xu, B. Zhou, Z. Hu, B. Cheng, N. Chen, J. Mei, K. Xia, X. Xu, Y. Wang, Y. Wu, J. Wang, J. Wang, C. Lajonchere, G. Dawson, H. Yang, A. Shih, B. Devlin, Z. Sun, S. W. Scherer, Y. Li. 2618F Analysis of low-frequency, protein altering variation in 13,000 individuals from a Swedish schizophrenia cohort on the exome array. B. M. Neale, J. Goldstein, C. O Dushlaine, M. Fromer, G. Genovese, J. L. Moran, K. Chambert, C. M. Hultman, P. Sklar, S. Purcell, M. J. Daly, P. F. Sullivan, S. McCarroll. 2619W Search for rare-variant risks of Parkinson s disease by sequencing of candidate genes and exome sequencing. W. Satake, Y. Suzuki, Y. Ando, T. Nishioka, K. Syoji, H. Tomiyama, M. Yamamoto, M. Murata, N. Hattori, S. Sugano, T. Toda. POSTER SESSIONS 2609F SPG4 mutations in Brazilian patients with hereditary spastic paraplegia. I. Lopes-Cendes, D. B. Dogini, C. Cartaxo, S. Raskin, H. A. G. Teive, J. Saute, L. B. Jardim, M. C. França, Jr. 2610W Changes in the human transcriptome caused by LMNB1 duplication in a case of autosomal dominant leukodystrophy: An RNA-seq study. P. Cherukuri, D. Simeonov, K. Fuentes-Fajardo, P. Zumbo, C. Mason, S. Lin, Y. H. Fu, C. Boerkoel, T. Markello, W. Gahl, C. Toro. 2611T Exome sequencing of young onset sporadic amyotrophic lateral sclerosis trios. A. E. Renton, J. R. Gibbs, J. O. Johnson, M. A. Nalls, C. Sassi, Y. Abramzon, C. Edsall, G. Restagno, M. Sabatelli, A. Chiò, B. J. Traynor. 2612F PRRT2 gene missense mutations account for both paroxysmal kinesigenic dyskinesia and infantile convulsions in a Chinese pedigree. C. Cai, W. D. Li. 2613W Whole-exome sequencing and homozygosity analysis to dissect autism, a complex genetic disorder. M. H. Chahrour, T. W. Yu, E. T. Lim, B. Ataman, M. E. Coulter, R. S. Hill, C. R. Stevens, C. R. Schubert, ARRA Autism Sequencing Collaboration, M. E. Greenberg, S. B. Gabriel, C. A. Walsh. 2614T Gene-based rare variant analyses reveal loci associated with autism spectrum disorder. N. Dueker, E. R. Martin, A. J. Griswold, H. N. Cukier, S. Slifer, J. Jaworski, I. Konidari, P. L. Whitehead, M. Schmidt, D. J. Hedges, D. Martinez, S. Clarke, M. L. Cuccaro, J. R. Gilbert, J. L. Haines, M. A. Pericak-Vance. 2620T Rare combination of inherited mutations in a large multigenerational pedigree with autism spectrum disorder and co-morbid neurodevelopmental disorders. P. Szatmari, O. Migita, I. O Connor, A. Prasad, D. Sato, S. Walker, A. Thompson, S. W. Scherer, D. Pinto. 2621F Resequencing of 17 genes in the N-methyl-Daspartate glutamate system to identify rare variants affecting risk of substance dependence. P. Xie, H. R. Kranzler, J. H. Krystal, L. A. Farrer, H. Zhao, J. Gelernter. 2622W Widespread novel RNA editing in human brain tissue, identified by RNA-seq. L. Hou, N. Akula, J. Wendland, D. T. Chen, X. Jiang, K. Choi, B. K. Lipska, J. E. Kleinman, F. J. McMahon. 2623T Association of the polymorphisms of ITPK1 gene in inositol metabolic pathways with NTDs. Z. Guan, J.- H. Wang, J. Guo, F. Wang, X.-W. Wang, G.-N. Li, Q. Xie, X. Han, B. Niu, T. Zhang. 2624F High apolipoprotein E4 allele frequency in FXTAS patients. M. Mila, F. Silva, I. Madrigal, M.-I. Alvarez-Mora, R. Oliva, L. Rodriguez-Revenga. 2625W Generation and characterization of induced pluripotent stem cells from patients with the autosomal dominant disorder spinocerebellar ataxia type 1. N. Mollema, A. Shanmugam, E. Leathley, D. Kaufman, H. T. Orr. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

222 220 POSTER SESSIONS 2626T Quality of life in Machado-Joseph disease/ spinocerebellar ataxia type 3 is related to depressive and extracerebellar disease features. J. A. Saute, R. D Ávila, R. M. Castilhos, T. L. Monte, A. F. S. Schuh, K. C. Donis, G. N. Souza, A. D. Russo, T. C. Gheno, G. V. Furtado, M. L. Saraiva-Pereira, C. R. M. Rieder, L. B. Jardim. 2627F A health non penetrant pedigree derives from a late onset Parkinsonism founder index case with SCA2 and SCA8 expansions. V. Volpini, H. San Nicolas, J. Corral, L. De Jorge, B. Campos. 2628W Impaired TFEB signaling accounts for autophagy pathway dysfunction in the neurodegenerative proteinopathy X-linked spinal and bulbar muscular atrophy. C. Cortes, Y. Batlevi, J. E. Young, H. Frankowski, B. L. Sopher, G. A. Garden, A. R. La Spada. 2629T The histone demethylase KDM5C gene is a direct target of the ARX homeobox transcription factor. L. Poeta, F. Fusco, D. Drongitis, C. Shoubridge, G. Manganelli, A. Padula, S. Filosa, M. Courtney, P. Collombat, M. B. Lioi, J. Gecz, M. V. Ursini, M. G. Miano. 2630F 15q11.2 Microdeletion and FMR1 premutation in a family with intellectual disabilities and autism. L. Rodriguez-Revenga, I. Madrigal, M. Mila. 2631W FRAXE molecular diagnosis in individuals referred for FRAXA screening. A. Javed, G. Ali, L. Caicedo, I. Marques, R. Santos, P. Jorge. 2632T An isogenic, epi-isoautosomal fibroblast model to investigate FMR1 premutation-associated cellular dysfunction. K. A. Koscielska, S. Roenspie, P. J. Hagerman. 2633F Formation of an R-loop at the FMR1 5 UTR: Unraveling the extra thread of FMR1 expression. E. W. Loomis, F. L. Chédin, P. J. Hagerman. 2634W The role of AGG interruptions, alternative splicing and bidirectional transcription in the stability and function of the FMR1 gene. C. M. Yrigollen, H. Tang, E. Loomis, G. Filippova, P. J. Hagerman, F. Tassone. 2635T MutL is required to repair short slipped-dnas of trinucleotide repeats. G. Panigrahi, M. Slean, J. Simard, C. Pearson. 2636F Regional alterations of transcriptome-wide AGO:miRNA binding profiles in Huntington s disease patient brains. R. L. Boudreau, P. Jiang, B. L. Gilmore, Y. Xing, B. L. Davidson. 2637W Large repeat expansions in the C9ORF72 gene contribute to a spectrum of neurodegenerative disorders including Alzheimer disease. M. A. Kohli, K. John-Williams, R. Rajbhandary, A. Naj, P. Whitehead, K. Hamilton, R. M. Carney, C. Wright, E. Crocco, H. E. Gwirtzman, R. Lang, G. Beecham, E. R. Martin, J. Gilbert, M. Benatar, G. W. Small, D. Mash, G. Byrd, J. L. Haines, M. A. Pericak-Vance, S. Züchner. 2638T C9ORF72 repeat expansions are a genetic cause of parkinsonism. S. Lesage, I. Le Ber, C. Condroyer, E. Broussolle, A. Gabelle, S. Thobois, A. Durr, A. Brice, Parkinson s Disease Genetics Study Group. 2639F Autosomal dominant family history is a highly sensitive but not exclusive indicator of pathogenic C9ORF72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. J. C. Fong, S. J. Sha, L. Takada, K. J. Rankin, J. S. Yokoyama, N. J. Rutherford, A. M. Karydas, B. K. Khan, M. C. Baker, M. DeJesus- Hernandez, M. Pribadi, G. Coppola, D. H. Geschwind, R. Rademakers, A. L. Boxer, B. L. Miller. 2640W Walking down the molecular pathogenic road of ARX polyalanine tract expansions: Where do they part? C. Shoubridge, K. P. Y. Lee, T. Mattiske, J. Gécz. 2641T Copy number variation of the neuronal glucose transporter 3 and age of onset in Huntington s disease. A. Vittori, C. Breda, M. Repici, T. F. Outeiro, F. Giorgini, E. J. Hollox, REGISTRY Investigators of EHDN. 2642F Spinocerebellar ataxias in Brazil: Frequencies and potential modifiers of phenotype. R. M. Castilhos, P. Schaeffer, T. C. Gheno, G. V. Furtado, K. C. Donis, O. Barsottini, J. L. Pedroso, D. Z. Salarini, F. R. Vargas, M. A. F. D. Lima, C. Godeiro, L. C. S. Silva, M. B. P. Toralles, H. Y. Wanderley, P. F. V. Medeiros, S. Santos, H. van den Linden, E. M. Ribeiro, E. T. Pereira, M. L. Saraiva-Pereira, L. B. Jardim, Rede Neurogenética. 2643W Comprehensive haplotype analysis of the Huntington s disease gene. J. Lee, H. Li, J. C. Roach, N. Goodman, L. Hood, J. A. Kaye, H. Zayed, I. H. Kratter, A. C. Daub, S. Finkbeiner, R. H. Myers, M. E. MacDonald, J. F. Gusella. 2644T Brain-specific junctophilins: Function and role in neurodegeneration. X. Sun, M. Bhat, C. Zhang, W. Zheng, R. L. Margolis, D. D. Rudnicki. 2645F Repeat associated non-aug translation in repeat expansion disorders. T. Zu, B. Gibbens, L. P. W. Ranum. 2646W microrna expression in Alzheimer s disease: An exploratory investigation. L. M. Bekris, F. Lutz, T. J. Montine, C. E. Yu, E. R. Peskind, J. B. Leverenz. 2647T Behavioral abnormalities of knockout mice of Grm3, a candidate gene for schizophrenia susceptibility. Y. Fukumaki, R. Fujioka, T. Nii, A. Iwaki, A. Shibata, I. Ito, K. Kitaichi, M. Nomura, S. Hattori, K. Takao, T. Miyakawa. 2648F Repeat expansion in C9ORF72 in Alzheimer s disease. E. Majounie, Y. Abramzon, A. E. Renton, R. Perry, S. S. Bassett, O. Pletnikova, J. C. Troncoso, J. Hardy, A. B. Singleton, B. J. Traynor. 2649W Oxr1 is essential for protection against oxidative stress-induced neurodegeneration. P. L. Oliver, M. J. Finelli, K. Liu, B. Edwards, E. Bitoun, E. B. Becker, K. E. Davies. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

223 POSTER SESSIONS T Joint SNP analysis identifies multiple signals underlying association between CHRNB3-CHRNA6 and nicotine dependence. B. Sadler, E. Johnson, N. Saccone, L. Bierut, A. Goate. Molecular Basis of Mendelian Disorders 2651F Variation in gene expression related to schizophrenia-associated neurocognitive endophenotypes. E. E. Quillen, M. A. Carless, J. Neary, M. Z. Kos, R. C. Gur, M. F. Pogue-Geile, K. Prasad, J. Blangero, H. H. H. Göring, V. L. Nimgaonkar, R. E. Gur, L. Almasy. 2652W A genome-wide epigenetic analysis in monozygotic twins discordant for schizophrenia. F. Nishimura, A. Yoshikawa, S. Nanko, A. Imamura, Y. Okazaki, K. Iwamoto, T. Kato, T. Sasaki, K. Kasai, C. Kakiuchi. 2653T microrna-9 and -206 expression profile in human amyotrophic lateral sclerosis. D. Dogini, A. Nucci, I. Lopes-Cendes, M. C. França, Jr. 2654F Altered cell growth and mtor signaling in idiopathic autism spectrum disorders. A. M. Suzuki, C. O. F. Machado, K. G. Oliveira, E. Vadasz, M. R. Passos- Bueno, A. L. Sertie. 2655W Investigating the genetic susceptibility to epilepsy in animal models using gene expression studies. A. H. B. Matos, V. D. B. Pascoal, D. R. Nascimento, M. Martins, C. S. Rocha, J. F. Vasconcellos, M. T. Chamma, C. V. Maurer-Morelli, A. S. Martins, A. C. Valle, A. L. B. Godard, I. Lopes-Cendes. 2662W The role of GTF2IRD1 in the auditory pathology of Williams-Beuren syndrome. C. P. Canales, A. C. Y. Wong, G. D. Housley, P. W. Gunning, E. C. Hardeman, S. J. Palmer. 2663T Tricellulin is required to maintain the barrier function of the reticular lamina and protect the cochlear hair cells from potassium toxicity. G. Nayak, I. A. Belyantseva, R. Yousaf, S. Edelmann, S. Lee, G. Sinha, M. Rafeeq, S. M. Jones, C. M. Van Itallie, J. M. Anderson, A. Forge, G. I. Frolenkov, S. Riazuddin. 2664F Generation and characterization of Plp1dup, a new mouse model of Pelizaeus-Merzbacher disease with tandem genomic duplication. G. Hobson, K. Clark, L. Sakowski, K. Sperle, L. Banser, D. Bessert, R. Skoff. 2665W Gtf2i copy number affects the growth of neural progenitors in the developing mouse cortex. H. Oh, L. R. Osborne. 2666T GPM6A is duplicated in a patient with learning disability and behavioral anomalies and influences stress response and long-term memory in Drosophila melanogaster. C. Zweier, A. Gregor, J. Kramer, I. Schanze, A. B. Ekici, A. Schenck, A. Reis. POSTER SESSIONS 2656T Effects of oral L-carnitine administration in narcolepsy patients. T. Miyagawa, H. Kawamura, M. Obuchi, A. Ikesaki, A. Ozaki, K. Tokunaga, Y. Inoue, M. Honda. 2657F Discovery of genetic syndromes in patients manifesting with primary neuropsychiatric disorders. J. So, J. L. Kennedy. 2658W Genomic and bioinformatic analyses of sex differences in autism spectrum disorder. D. M. Werling, J. K. Lowe, V. Chandran, R. M. Cantor, D. H. Geschwind, ACE Genetics Consortium. 2659T Analysis of RBFOX1 gene expression in lymphoblastoid cell lines of discordant ASD sib pairs. C. Zusi, P. Prandini, G. Malerba, A. Marostica, E. Trabetti, P. F. Pignatti, Italian Autism Network. 2660F Protein-protein interaction network for autism spectrum disorders. R. Corominas, X. Yang, G. N. Lin, S. Kang, Y. Shen, L. Ghamsari, S. A. Wanamaker, S. Tam, M. Rodriguez, M. Broly, V. Romero, I. Lemmens, M. Tasan, J. Tavernier, F. P. Roth, M. Calderwood, J. Sebat, K. Salehi- Ashtiani, D. E. Hill, M. Vidal, T. Hao, L. M. Iakoucheva. 2661W Transcriptome analysis of brain-related diseases in whole blood by RNA sequencing. S. de Jong, T. Wang, A. P. S. Ori, M. Wiedau-Pazos, E. Strengman, N. Tran, J. DeYoung, R. S. Kahn, M. P. M. Boks, S. Horvath, R. A. Ophoff. 2667F FASPS associated Per3 mutation affects mesenchymal stem cell differentiation. K. Kaasik, C. R. Jones, Y. H. Xu, S. Nishino, L. J. Ptacek, Y. H. Fu. 2668W Characterization of a novel mitofusin 2 knockin mouse model. A. Rebelo, A. Strickland, F. Zhang, J. Price, J. Silva, R. Wen, B. Bolon, J. Vance, S. Zuchner. 2669T Triply mouse model of Tay-Sachs disease shows altered brain ganglioside pattern. V. Seyrantepe, Z. Timur. 2670F Deficiency of SPECC1L downregulates PI3K- AKT signaling in the pathogenesis of oblique facial clefts. N. R. Wilson, A. J. Olm-Shipman, L. Pitstick, B. C. Bjork, I. Saadi. 2671W Transgenic rescue of BBS phenotypes in Bbs4 null mice. X. Chamling, S. Seo, K. Bugge, C. C. Searby, A. V. Drack, K. Rahmouni, V. C. Sheffield. 2672T Overexpression of Rai1 in mouse forebrain neurons is enough to cause most PTLS-like phenotypes. L. Cao, J. Molina, P. Carmona-Mora, A. Oyarzo, J. Young, K. Walz. 2673F A zebrafish model for Richieri-Costa-Pereira syndrome: Knockdown of eif4a3 gene results in craniofacial development disorder. L. Alvizi, A. Weiner, F. Favaro, R. Zechi-Ceide, A. Richieri-Costa, M. Guion- Almeida, N. Calcaterra, M. R. Passos-Bueno. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

224 222 POSTER SESSIONS 2674W A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. A. Carabalona, S. Beguin, E. Pallesi- Pocachard, E. Buhler, C. Pellegrino, K. Arnaud, P. Hubert, M. Ouahla, J.-P. Siffroi, S. Khantane, I. Coupry, C. Goizet, A. Bernabe-Gelot, A. Represa, C. Cardoso. 2675T Mining phenotype and disease models from the mouse genome informatics resource. J. T. Eppig, S. M. Bello, H. Dene, A. Anagnostopoulos, H. Onda, R. Babiuk, M. N. Knowlton, M. Tomczuk, C. L. Smith. 2676F Molecular genetics and modeling of a novel BBS5 mutation. M. H. Al-Hamed, C. V. Lennep, F. Al- Fadhly, R. J. Simms, B. F. Meyer, J. A. Sayer. 2677W Limb differences in muscle dystrophy and gene expression in a murine model of MDC1A suggest possible targets for therapy. J. S. Benjamin, R. Marx, R. D. Cohn. 2678T FREM1 deficiency causes a syndromic form of congenital diaphragmatic hernia in humans and mice. T. F. Beck, O. Shchelochkov, Z. Yu, B. Kim, H. Zaveri, B. Lee, D. W. Stockton, M. Justice, D. A. Scott. 2679F Characterization of visual impairment in a Wfs1 mouse model of Wolfram syndrome. C. Delettre, D. Bonnet-Wersinger, Y. Tanizawa, G. Lenaers, C. Hamel. 2680W Gene therapy for X-linked retinitis pigmentosa in a knockout mouse model of RP2. S. Mookherjee, L. Li, A. K. Ghosh, N. Khan, P. Colosi, H. Khanna, A. Swaroop. 2681T Altered splicing of BIN1 muscle-specific exon in human and Great Danes with progressive centronuclear myopathies. J. Bohm, N. Vasli, M. Maurer, B. S. Cowling, W. Kress, G. D. Shelton, U. Schara, J. Anderson, R. Herrmann, J. Weis, L. Tiret, J. Laporte. 2682F Upregulation of androgen-binding protein is associated with testicular phenotype in Smarcal1 del/del mice. A. Baradaran-Heravi, C. F. Boerkoel. 2683W A mouse model of mut methylmalonic acidemia. J. S. Sénac, V. H. Aswani, J. R. Sysol, I. Manoli, C. P. Venditti. 2684T Allelic heterogeneity contributes to variable ocular dysgenesis caused by Col4a1 and Col4a2 mutations in mice. M. Mao, D. S. Kuo, C. Labelle- Dumais, M. Jeanne, J. Favor, D. B. Gould. 2685F Tmprss3 loss of function impairs cochlear inner hair cell BK channel properties. B. Delprat, L. Molina, L. Fasquelle, R. Nouvian, N. Salvetat, H. Scott, M. Guipponi, F. Molina, J. L. Puel. 2686W Interaction with p97/vcp alters the intracellular itinerary of the copper-transporting ATPase, ATP7A. L. Yi, S. G. Kaler. 2687T JNK phosphorylation is responsible for the greater osteogenic potential of periosteum derived fibroblasts harboring the FGFR2 S252W mutation (Apert syndrome). R. Atique, E. Yeh, H. Matsushita, N. Alonso, M. R. Passos-Bueno. 2688F Novel p.leu795pro INSR mutation with decreased autophosphorylation in a patient with Donohue syndrome. T. Hovnik, K. Trebuš ak Podkrajš ek, J. Kovač, N. Bratanič, T. Battelino. 2689W Post-transcriptional regulation of DMD by its 3 UTR. A. Larsen, M. Howard. 2690T NPHP10 (SDCCAG8) interacts with components of the multi-aminoacyl-trna synthetase complex. K. Weihbrecht, M. Humbert, V. Sheffield, S. Seo. 2691F Effect of the mutations Gly250Val and Leu451Val on the expression of the gene HEXA: Disease causing or pseudo-mutations. L. Peleg, R. Svirski, Y. Lerental, M. Karpati, A. J. Simon. 2692W Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome. J.-M. Capo-Chichi, S. Bhati, J. A. Sommers, T. Yammine, E. Chouery, L. Patry, G. A. Rouleau, M.-E. Samuels, F. F. Hamdan, J. L. Michaud, R. M. Brosh, Jr., A. Megarbane, Z. Kibar. 2693T Development of a cell-based reporter assay for the analysis of regulatory interactions between FGF23/ KLOTHO/FGFR1, small inhibitors, and downstream targets. S. Diener, B. Lorenz-Depiereux, T. M. Strom. 2694F The most activating calcium-sensing receptor mutation is located in the sixth transmembrane domain and can be corrected with chemical treatments. A.-S. Lia-Baldini, A. Nizou, C. Magdelaine, F. Sturtz, B. Funalot, A. Liendhard. 2695W Dysregulated pathways in Cornelia de Lange syndrome cells mutated in core cohesin genes. A. Musio, L. Mannini, A. Gimigliano, l. Bianchi, M. A. Deardorff, F. Cucco, I. D. Krantz, L. Bini. 2696T Conformations of slipped-dna junctions determine correct or mutagenic repair of CAG/ CTG repeats. M. M. Slean, K. Reddy, B. Wu, K. Nichol Edamura, M. Kekis, F. Nelissen, R. Aspers, M. Tessari, O. D. Scharer, S. S. Wijmenga, C. E. Pearson. 2697F High incidence of SMAD3 mutations in thoracic aortic aneurysm and/or dissection patients. H. Morisaki, I. Yamanaka, A. Yoshida, R. Sultana, H. Tanaka, Y. Iba, H. Sasaki, H. Matsuda, K. Minatoya, T. Kosho, N. Okamoto, A. Kawame, T. Morisaki. 2698W Clinical exome sequencing leads to the diagnosis of Timothy syndrome in a patient with prolonged QT, dysmorphic features, seizures, and intellectual disability. W. Zeng, K. D. Gonzalez, X. Li, H. M. Lu, H. Lu, E. M. Miller, S. Ware, J. J. Wei. 2699T Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. M. Nyegaard, M. T. Overgaard, M. T. Søndergaard, M. Vranas, E. R. Behr, L. L. Hildebrandt, J. Lund, P. L. Hedley, A. J. Camm, G. Wettrell, I. Fosdal, M. Christiansen, A. D. Børglum. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

225 POSTER SESSIONS F Role of SP1-binding site polymorphism of COLIAI gene and a sequence variation del C of TGF 1 polymorphism in osteoporosis in thalassemia major patients. S. Agarwal, K. Singh, R. Kumar. 2711T Severe familial growth hormone deficiency due to defective U12-dependent processing of pituitary developmental genes. L. A. Perez-Jurado, R. Flores, G. A. Martos-Moreno, I. Cuscó, J. Argente. 2701W Loss-of-function mutations in IGSF1 cause a novel X-linked syndrome of TSH deficiency and macroorchidism. M. Breuning, Y. Sun, B. Bak, N. Schoenmaker, A. S. P. van Trotsenburg, P. Voshol, E. Cambridge, J. White, P. le Tisser, S. Mousavy Gharavy, J. Martinez-Barbera, W. Oostdijk, L. Persani, P. Beck-Peccoz, T. Davis, A. Hokken-Koelega, C. Ruivenkamp, J. F.J. Laros, M. Kriek, S. Kant, J. T. den Dunnen, R. Hennekam, K. Chatterjee, M. Dattani, J. Wit, D. Bernard. 2712F Impaired energy homeostasis and arrested maturation underlie neutrophil dysfunction in glycogen storage disease type Ib. H. S. Jun, D. A. Weinstein, Y. M. Lee, B. C. Mansfield, J. Y. Chou. 2713W A novel mutation in PSTPIP1 is responsible for PAPA syndrome in a Jordanian child. H. El-Shanti, F. Al-Amri, B. Fathalla, S. Al-Dosari, M. Al-Mutawa, M. Kambouris. POSTER SESSIONS 2702T Hyperphagia, leptin, and brain-derived neurotrophic factor in subjects with Alström syndrome and BMI-Z matched controls. M. D. Hicks, J. D. Marshall, P. Maffei, A. E. Hanish, L. A. Hunter, S. M. Brady, N. M. Sedaka, R. Sherafat Kazemzadeh, J. W. Tsao, G. Milan, J. Naggert, J. A. Yanovski, J. C. Han. 2703F The Euro-WABB Registry: Differences in molecular genetic confirmation between monogenic Wolfram, Alström, and Bardet-Biedl syndromes. A. Farmer, S. Ayme, P. Maffei, S. Mccafferty, R. Sinnott, W. Mlynarski, V. Nunes, V. Paquis, K. Parkinson, V. Tillman, T. Barrett. 2704W Biallelic RFX6 inactivation can cause intestinal atresia with childhood rather than neonatal onset diabetes. F. H. Sansbury, R. Caswell, H. Lango Allen, S. E. Flanagan, B. Kirel, S. Ellard, A. T. Hattersley. 2705T Identification of a de novo mutation in the thyroid hormone receptor gene in a Colombian family with RTH. M. C. Lozano, L. Mejia, P. Duran, C. Lattig. 2706F Use of lineage markers to predict founder effect of E180Splice mutation in GHR gene causing Laron syndrome: A witness of Jewish exodus. F. T. Goncalves, C. Fridman, E. M. Pinto, Z. Laron, J. Guevara-Aguirre, F. G. Carsola, D. Damiani, T. S. Lins, O. Shevah, V. Hwa, A. L. Rosembloom, R. G. Rosenfeld, U. P. Arnhold, A. A. L. Jorge. 2707W Genetics of congenital hypogonadotropic hypogonadism in Denmark. J. Tommiska, P. Christiansen, N. Jørgensen, J. Lawaetz, A. Juul, T. Raivio. 2708T A rare gain-of-function mutation in an inhibitory upstream open reading frame in CDKN1B 5 untranslated region causes MEN4 phenotype. G. Occhi, D. Regazzo, G. Trivellin, F. Boaretto, D. Ciato, S. Ferasin, F. Cetani, E. Pardi, M. Korbonits, N. Pellegata, G. Opocher, F. Mantero, C. Scaroni. 2709F Next-generation sequencing to identify cryptic ABCC8 and HADH splice site mutations in patients with congenital hyperinsulinaemic hypoglycaemia. S. Ellard, R. Caswell, M. Weedon, K. Hussain, S. E. Flanagan. 2710W ABCC8 and KCNJ11 gene mutational analysis in Slovenian patients with neonatal diabetes and congenital hyperinsulinism. K. Trebuš ak Podkrajš ek, M. Avbelj, T. Hovnik, N. Bratina, N. Bratanič, T. Battelino. 2714T Prevalence of anti3.7 triplication in betathalassemia carriers in south of Iran. G. Shariati, M. Hamid, A. H. Saberi, B. Sharififard, B. Keikhaei, M. Pedram. 2715F Mutational analysis of Korean patients with Diamond-Blackfan anemia. H. Chae, J. Park, M. Kim, A. Kwon, S. Lee, Y. Kim, J. W. Lee, N. G. Chung, B. Cho, D. C. Jeong. 2716W Apoptosis is responsible for neutropenia in Cohen syndrome. L. Duplomb, L. Faivre, A. Hammann, G. Jego, N. Droin, E. Lopez, B. Aral, N. Gigot, S. El Chehadeh, F. Huet, P. Callier, J. Thevenon, V. Carmignac, C. Capron, M.-A. Gougerot-Pocidalo, F. Girodon, J.-N. Bastie, L. Delva, C. Thauvin-Robinet. 2717T A novel pig model of SCID; A tool for cancer and immune research. N. M. Ellinwood, E. H. Waide, D. M. Thekkoot, N. Boddicker, R. R. R. Rowland, E. M. Snella, J. K. Jens, C. R. Wyatt, J. W. Ross, D. Troyer, C. K. Tuggle, J. C. M. Dekkers. 2718F Polymorphism in the HMOX-1 gene is associated with high levels of HbF in Brazilian patients with sickle cell anemia. M. B. Melo, G. P. Gil, G. Ananina, M. B. Oliveira, M. J. Silva, M. N. N. Santos, M. A. C. Bezerra, B. L. D. Hatzlhofer, A. S. Araujo, F. F. Costa. 2719W Beta-thalassemia in the Aegan Region of Turkey: Identification of a novel deletion mutation. F. Ozkinay, H. Onay, E. Karaca, E. Arslan, A. Ece, B. Erturk, M. Tekin, O. Cogulu, Y. Aydinok, C. Vergin. 2720T Development of a diagnostic panel for genetic immunodeficiencies using next-generation sequencing. E. M. Coonrod, J. Durtschi, A. Kumanovics, R. L. Margraf, H. R. Hill, K. V. Voelkerding. 2721F Spectrum of gene mutations in Chinese patients with refractory human herpes viruses associated disease. H. Liu, F. Wang, Y. Zhang, Y. Wang, W. Teng, L. Guo, C. Tong, T. Wu, Y. Zhao, J. Gu, D. Lu. 2722W Exome sequencing identifies missense IRF2BP2 mutation in a family with autosomal dominant common variable immunodeficiency. L. Tian, D. Li, M. Keller, K. Cecilia, E. Frackelton, F. Otieno, H. Hakonarson, J. S. Orange. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

226 224 POSTER SESSIONS 2723T C-terminal frameshift truncation and extension mutation in POU3F4. W. Park, B. Choi, D. Kim, A. Kim. 2724F Dominant allele of DFNM1 suppresses DFNB26 associated recessive hearing loss. R. Yousaf, Z. M. Ahmed, G. Nayak, R. J. Morell, S. Sumanas, E. R. Wilcox, S. Riazuddin, T. B. Friedman, S. Riazuddin. 2725W Phenome-wide, cross-species comparisons identify novel disease genes with high accuracy. D. P. Smedley, C. J. Mungall, S. C. Doelken, S. Köehler, B. J. Ruef, M. Westerfield, P. N. Robinson, S. E. Lewis, W. C. Skarnes, Members of Mouse Genetics Project. 2726T Mutation screening in CYP1B1 in glaucoma cases from North India. A. Bhardwaj, V. Vanita. 2727F Screening of SOX10 and MITF regulatory regions in Waardenburg syndrome type 2. N. Bondurand, V. Baral, A. Chaoui, Y. Watanabe, M. Goossens, T. Attie- Bitach, S. Marlin, V. Pingault. 2728W Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions. V. Chini, D. Stambouli, F. M. Nedelea, G. A. Filipescu, D. Mina, H. El-Shanti, M. Kambouris. 2729T Search for a new gene responsible for nonsyndromic craniosynostosis. S. El Chehadeh-Djebbar, F. Di Rocco, C. Collet, M. Le Merrer, J. Puechberty, G. Lefort, B. Aral, S. Lambert, N. Gigot, M. Payet, C. Ragon, N. Marle, A.-L. Mosca-Boidron, J.-R. Teyssier, F. Mugneret, C. Thauvin-Robinet, P. Sarda, L. Faivre, P. Callier. 2730F Mutation screening in CNGA1 in an autosomal recessive retinitis pigmentosa family. S. Goyal, V. Vanita. 2731W A novel mutation of the nicastrin (NCSTN) gene in a large Indian family with autosomal dominant hidradenitis suppurativa (or acne inversa). D. Jhala, U. Ratnamala, T. Y. Mehta, F. M. S. Al-Ali, M. Raveendrababu, S. S. Chettiar, M. V. Rao, S. Nair, J. J. Sheth, M. R. Kuracha, S. K. Nath, U. Radhakrishna. 2732T A systematic approach to identifying disease genes in Mullerian aplasia. H.-G. Kim, H. K. Nishimoto, R. Ullmann, J. A. Phillips III, Y. Shen, R. H. Reindollar, H. H. Ropers, V. M. Kalscheuer, L. C. Layman. 2733F Linkage analysis in an autosomal recessive retinitis pigmentosa family. V. Kumar, S. Saini. 2734W Homozygosity mapping and mutation profile of the MYO7A gene in Saudi patients with Usher syndrome. K. Ramzan, M. Al-Owain, K. Taibah, G. Bin- Khamis, R. Allam, A. Al-Mostafa, S. Al-Hazza, F. Imtiaz. 2735T Mutation analysis in an autosomal recessive retinitis pigmentosa family. S. Saini, J. R. Singh, V. Vanita. 2736F The role of APCS and RBP4 genes as modifiers of age-at-onset in familial amyloid polyneuropathy (FAP ATTRV30M). D. Santos, T. Coelho, J. L. Neto, J. P. Basto, J. Sequeiros, I. Alonso, C. Lemos, A. Sousa. 2737W Linkage analysis in families with autosomal dominant corneal dystrophies. D. Singh, V. Vanita. 2738T A novel chromosomal locus in a family with primary ciliary dyskinesia. R. Parvari, M. Mazor, S. Alkrinawi, V. C. Sheffield, M. Aviram. 2739F Polymorphism of VEGF+674 gene as potential risk factor for age related macular degeneration in Indian patients. D. Gupta, V. Gupta, S. Chawla, S. R. Phadke. 2740W Whole genome analysis identifies mutations in inositol polyphosphate phosphatase-like 1 as the cause of opsismodysplasia. J. E. Below, D. Earl, K. M. Bofferding, M. J. McMillin, J. Smith, E. Turner, M. Stephan, L. Al-Gazali, J. Hertecant, D. H. Cohn, D. A. Krakow, D. A. Nickerson, M. J. Bamshad. 2741T Novel loci for autosomal dominant nocturnal frontal lobe epilepsy. S. E. Heron, M. Bahlo, K. R. Smith, P. Hickey, C. Bromhead, C. P. Derry, J. S. Duncan, S. Howell, S. F. Berkovic, I. E. Scheffer, L. M. Dibbens. 2742F Identification of a new gene for X-linked Charcot-Marie-Tooth neuropathy using linkage and exome analysis. M. Kennerson, E. Yiu, D. Chuang, S.-C. Tso, C. Ly, A. Kidambi, G. Perez Siles, M. Ryan, G. Nicholson. 2743W A novel splice site mutation in Erlin2 gene causes complicated form of hereditary spastic paraplegia in a Saudi family. S. Majid, S. Bohlega, S. Hagos, H. Dossari, K. Ramzan, Z. Hassnan. 2744T Clinical and genetic study of a new form of familial multiple keratoakanthoma in a Tunisian family: The palmoplantar familial multiple keratoacanthoma. O. Mamaô, L. Boussofara, L. Adala, I. Ben Charfeddine, S. Bouraoui, A. Amara, R. Nouira, M. Denguezli, B. Sriha, M. Gribaa, A. Saad. 2745F FBLN5 mutation as the cause of HMSN I in a Czech family: Usefulness of combination of SNP linkage and exome sequencing analysis. D. Brož ková, P. Laš š uthová, J. Lisoň ová, M. Krů tová, P. Seeman. 2746W Expansion of a repeat motif in the 5 untranslated region of EIF4A3 causes craniofacial and limb defects (Richieri-Costa-Pereira syndrome). F. Favaro, R. M. Zechi-Ceide, L. Alvizi, J. Souza, T. M. Felix, S. R. F. Twigg, S. J. McGowan, A. O. M. Wilkie, A. Richieri- Costa, M. L. Guion-Almeida, M. R. Passos-Bueno. 2747T A recurrent mutation of keratin 4 gene causing white sponge nevus in a Japanese family. M. Kimura, T. Nagao, J. Machida, S. Yamaguchi, A. Shibata, G. Takeuchi, H. Miyachi, K. Shimozato, Y. Tokita. 2748F Molecular analysis of benign familial neonatalinfantile convulsion in a Japanese family. Y. Yamada, K. Yamada, D. Fukushi, K. Miura, N. Nomura, A. Yamano, T. Kumagai, N. Wakamatsu. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

227 POSTER SESSIONS W A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q q28. P. Yeetong, S. Ausavarat, R. Bhidayasiri, K. Piravej, N. Pasutharnchat, T. Desudchit, C. Chunharas, J. Loplumlert, C. Limotai, K. Suphapeetiporn, V. Shotelersuk. 2750T Calpain-5 causes autoimmune uveitis, retinal neovascularization and photoreceptor degeneration. V. B. Mahajan, J. M. Skeie, A. G. Bassuk, J. H. Fingert, T. A. Braun, H. T. Daggett, J. C. Folk, V. C. Sheffield, E. M. Stone. 2751F Soluble ICAM-1 levels are associated to a protective prognosis in sickle cell retinopathy. P. R. S. Cruz, T. R. Zaccarioto, F. N. Mitsuuchi, S. A. C. Pereira Filho, R. P. C. Lira, I. Meyer, M. A. C. Bezerra, K. Y. Fertrin, F. F. Costa, M. B. Melo. 2752W X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from, i>tbx22 splicing mutations. P. Stanier, E. Pauws, E. Peskett, C. Boissin, K. Mengrelis, E. Carta, M. A. Abruzzo, M. Lees, G. E. Moore, R. P. Erickson. 2753T Enlarged vestibular aqueduct syndrome: Characterization of three new mutations. E. Prera, S. Arndt, A. Aschendorff, R. Birkenhäger. 2754F A novel molecular basis for Carpenter syndrome. S. Movva, U. Kotecha, R. Puri, I. C. Verma. 2761W ELN mutations in autosomal dominant cutis laxa. E. Lawrence, M. McGowan, C. Su, M. Mac Neal, K. Levine, A. Zaenglein, M. Bodzioch, A. Kiss, Z. Urban. 2762T RIPK4 mutations explain a portion of IRF6- negative popliteal pterygium cases. E. J. Leslie, S. Goudy, M. Cunningham, J. C. Murray. 2763F Sacsin-related ataxia caused by the novel missense mutation Arg272His in a patient from Southern Italy. F. Cavalcanti, A. Nicoletti, G. Annesi, P. Tarantino, M. Gagliardi, G. Mostile, V. Dibilio, A. Quattrone, A. Gambardella, M. Zappia. 2764W SCA36 molecular analysis in patients with spinocerebellar ataxia. D. Di Bella, E. Sarto, C. Mariotti, C. Gellera, S. Magri, F. Taroni. 2765T Germline CAG repeat instability causes extreme CAG repeat expansion with infantile onset of spinocerebellar ataxia type 2 in offspring. J. Ek, T. Vinther-Jensen, M. Dunoe, F. Skovby, L. E. Hjermind, J. E. Nielsen, T. T. Nielsen. 2766F Genetic aspects of Dravet syndrome in southern Italy. M. Gagliardi, P. Tarantino, F. Cavalcanti, M. Sesta, P. Conti, D. Galeone, G. Tortorella, A. Labate, M. Caracciolo, T. Mirante, A. Bagal, A. Quattrone, A. Gambardella, G. Annesi. POSTER SESSIONS 2755W De novo activating mutations in phosphatidylserine synthase 1 cause a rare mental retardation-multiple congenital anomalies syndrome. S. B. Sousa, D. Jenkins, E. Chanudet, A. Barnicoat, K. Chrzanowska, J. Sá, J. Saraiva, R. Scott, D. Wattanasirichaigoon, G. Anderson, G. Tasseva, J. Vance, P. Beales, G. E. Moore. 2756T Exome sequencing of a consanguineous Palestinian kindred with syndromic cleft palate. H. Shahin, U. Sharaha, M. Lee, S. Saed, J. van Aalst, M. C. King, T. Walsh. 2757F Mutations in the DOCK6 gene in Adams-Oliver syndrome. W. Wuyts, A. Laureys, E. Van Hul, M. De Smedt, K. Storm, N. Van der Aa. 2758W Novel mutations of the FGD1 gene in 16 patients with Aarskog-Scott syndrome. T. Kaname, K. Yanagi, N. Okamoto, K. Kurosawa, Y. Izumikawa, Y. Fukushima, Y. Makita, M. Tsukahara, A. Altincik, S. Mizuno, K. Naritomi. 2759T Exome sequencing identifies an IFIH1 mutation causing Singleton-Merten syndrome by dysregulation of the innate immune response. F. Rutsch, M. MacDougall, C. Lu, Y. Nitschke, I. Buers, O. Mamaeva, D. K. Crossman, J. Dong, C. Müller, H. G. Kehl, J. Kleinheinz, P. Barth, K. Barczyk, D. Bazin, J. Altmüller, H. Thiele, P. Nürnberg, W. Höhne, A. S. Feigenbaum, R. Hennekam. 2760F Mutations in PVRL1 and PVRL4 genes define nectinopathies as developmental field disorders of ectodermal derivatives and cutaneous syndactyly with or without cleft lip/palate. E. Agolini, P. Fortugno, L. B. Ousager, A. Bygum, L. Graul-Neumann, K. Stieler, A. Kuechler, G. Zambruno, F. Brancati. 2767W Vacuolar-type H -ATPase V1A subunit is a molecular partner of Wolfram syndrome 1 protein, which regulates its stability and expression. S. Gharanei, M. Zatyka, D. Astuti, J. Fenton, E. Rabai, A. Sik, Z. Nagy, T. Barrett. 2768T Altered expression of carbonic anhydraserelated protein XI in neuronal cells expressing mutant ataxin-3. M. Hsieh, W. H. Chang, C. F. Hsu, C. L. Kuo, I. Nishimori, T. Minakuchi, N. Nukina. 2769F Alterations in RNA splicing underlie development of ataxia in SCA1 mice. M. A. C. Ingram, P. Bergmann, H. Kang, H. Y. Zoghbi, H. T. Orr. 2770W Clinical spectrum of intragenic CAMTA1 rearrangements: From non-progressive congenital ataxia to intellectual disability. E. Lopez, J. Thevenon, B. Keren, D. Heron, C. Mignot, C. Altuzara, M. Béri- Dexheimer, C. Bonnet, L. Burglen, D. Minot, J. Vigneron, P. Charles, A. Brice, L. Gallagher, J. Amiel, C. Mach, C. Depienne, D. Doummar, L. Duplomb, V. Carmignac, P. Callier, A.-L. Mosca-Boidron, V. Roze, B. Aral, F. Razavi, P. Jonveaux, L. Faivre, C. Thauvin-Robinet. 2771T Analysis of human mitochondrial aminoacyl-trna synthetase complexes in patients with MARS2 mutations. I. Thiffault, F. Sasarman, T. Nishimura, E. A. Shoubridge. 2772F Mutations in GPSM2 cause the brain malformations and hearing loss of Chudley- McCullough syndrome. D. Doherty, A. E. Chudley, G. Coghlan, G. E. Ishak, A. M. Innes, E. G. Lemire, R. C. Rogers, A. A. Mhanni, I. G. Phelps, S. J. M. Jones, S. H. Zhan, A. P. Fejes, H. Shahin, M. Kanaan, H. Akay, M. Tekin, B. Triggs-Raine, T. Zelinski, FORGE Canada Consortium. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

228 226 POSTER SESSIONS 2773W Thrombospondin genes are required for development of normal cochlear function and maintenance. M. Mustapha, D. Mendus, V. Sundaresan. 2774T Lack of the VPS35 Asp620Asn mutation in southern Italian patients with familial Parkinson s disease. G. Annesi, M. Gagliardi, P. Tarantino, F. Cavalcanti, T. Mirante, M. Caracciolo, A. Bagal, A. Gambardella, A. Quattrone. 2775F Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. C. Gellera, C. Tiloca, R. Del Bo, L. Corrado, V. Pensato, J. Agostini, C. Cereda, A. Ratti, B. Castellotti, S. Corti, A. Bagarotti, A. Cagnin, P. Milani, C. Gabelli, G. Riboldi, L. Mazzini, G. Sorarù, S. D Alfonso, F. Taroni, G. P. Comi, N. Ticozzi, V. Silani. 2776W Genetics of primary microcephaly in Indian families. A. Kumar, V. Bhat, G. Mohan, S. C. Girimaji. 2777T ZIC1 and ZIC4 deletion at 3q24 is not constantly associated to Dandy-Walker malformation. S. Loddo, V. Parisi, L. Bernardini, A. Ferraris, A. Capalbo, L. Travaglini, G. Zanni, M. L. Di Sabato, S. Tumini, A. Novelli, V. Sabolic, E. Bertini, B. Dallapiccola, E. M. Valente. 2778F A frameshift mutation in the gene encoding folliculin-interacting protein 2 associated with hypomyelination and tremors in the Weimaraner. P. Patel, T. Pemberton, S. Choi, J. Mayer, F.-Y. Li, N. Safra, D. Bannasch, K. Sullivan, B. Breuhaus, I. Duncan. 2779W Familial cortical myoclonus with a mutation in NOL3. J. F. Russell, J. L. Steckley, G. Coppola, A. F. G. Hahn, M. A. Howard, Z. Kornberg, A. Huang, S. M. Mirsattari, B. Merriman, E. Klein, M. Choi, H.-Y. Lee, A. Kirk, C. Nelson-Williams, G. Gibson, S. C. Baraban, R. P. Lifton, D. H. Geschwind, Y.-H. Fu, L. J. Ptacek. 2780T Mutations in PRRT2 result in familial infantile convulsions with marked variability in clinical expression and SUDEP. P. Tarantino, G. Palamara, A. Labate, M. Gagliardi, L. Mumoli, E. Ferlazzo, F. Cavalcanti, U. Aguglia, G. Incorpora, A. Gambardella, G. Annesi. 2781F Molecular analysis of NIPA1 gene mutations in patients with spastic paraplegia. F. Taroni, S. Caldarazzo, E. Sarto, M. Plumari, V. Martinelli, D. Pareyson, S. Baratta, D. Di Bella. 2782W Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SCGE. J. Xiao, K. Marshall, M. LeDoux. 2783T Isoform-selective MeCP2-e1 deficient mice recapitulate the neurologic defecits of Rett syndrome. D. H. Yasui, K. W. Dunaway, M. S. Golub, N. C. Schanen, J. M. LaSalle. 2784F ARHGEF26/SGEF controls arteriosclerosis, retinal fovea, immunity and neurodevelopment. P. Bitoun, E. Pipiras, B. Benzacken, A. Delahaye. 2785W Homozygosity mapping and exome sequencing in a Saudi-Arabian family with unspecified juvenile neurodegeneration. E. Frackelton, P. M. A. Sleiman, L. Tien, S. Panossian, K. Xu, B. Tweddale, N. Abdel-Magid, C. Kim, Y. Housawi, H. Hakonarson. 2786T Neuropathology in POL III related disorders: Myelin loss in 4H syndrome. A. Vanderver, J. Schmidt, G. Carosso, D. Tonduti, G. Bernard, J. Lai, C. Rossi, M. Quezado, K. Wong, R. Schiffman. 2787F Identification of homozygous WFS1 mutations (p.asp211asn, p.gln486*) causing severe Wolfram syndrome and first report of male fertility. A. Haghighi, A. Haghighi, A. Setoodeh, N. Saleh-Gohari, D. Astuti, T. G. Barrett. 2788W Whole exome sequencing in children with unclassified, sporadic, early-onset epileptic encephalopathies. K. R. Veeramah, L. Johnstone, D. Wolf, R. Sprissler, T. M. Karafet, D. Talwar, R. P. Erickson, M. F. Hammer. 2789T Determining the genetic architecture of Joubert syndrome. D. O Day, B. J. O Roak, I. G. Phelps, J. C. Dempsey, I. Glass, H. C. Mefford, J. Shendure, D. Doherty. 2790F Genetics of Joubert syndrome in the French Candian population. M. Srour, J. Schwartzentruber, F. F. Hamdan, L. H. Ospina, L. Patry, D. Labuda, C. Massicotte, S. Dobrzeniecka, J.-M. Capo-Chichi, S. Papillon- Cavanagh, M. E. Samuels, K. M. Boycott, M. I. Shevell, R. Laframboise, V. Désilets, D. Amron, E. Andermann, G. Sebire, B. Maranda, G. A. Rouleau, J. Majewski, J. L. Michaud, FORGE Canada Consortium. 2791W Mechanisms underlying non-recurrent microdeletions causing neurofibromatosis type-1. J. Vogt, K. Bengesser, K. Claes, K. Wimmer, L. Messiaen, L. Kluwe, V.-F. Mautner, H. Kehrer-Sawatzki. 2792T The DYRK1A gene is a rare cause of Angelmanlike syndrome with severe microcephaly and epilepsy. J.-B. Courcet, E. Lopez, J. Thevenon, N. Gigot, L. Jego, C. Ragon, A. Masurel-Paulet, P. Callier, N. Marle, A.-L. Mosca-Boidron, F. Huet, C. Philippe, L. Lambert, P. Malzac, L. Faivre, A. Moncla, C. Thauvin-Robinet. 2793F Exome sequencing reveals cause of hypomyelinating leukodystrophy. D. L. Dinwiddie, N. A. Miller, C. J. Saunders, S. E. Soden, G. M. Hobson, S. F. Kingsmore. 2794W Intractable epilepsy and tau protein pathology in a child with a defect in the synaptic vesicle recycling pathway. D. A. Dyment, A. Smith, P. Humphreys, J. Woulfe, FORGE Canada Consortium, D. E. Bulman, J. Schwartzentruber, J. Majewski, J. Michaud, K. M. Boycott. 2795T Novel CDKL5 splicing variant in a boy with earlyonset seizures. R. Polli, G. Ho, E. Leonardi, E. Bettella, E. Fontana, B. Dalla Bernardina, J. Christodoulou, A. Murgia. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

229 POSTER SESSIONS F The molecular role of GTF2IRD1, a protein implicated in the neurodevelopmental features of Williams-Beuren syndrome. P. Carmona-Mora, J. Widagdo, K. M. Taylor, R. Tsz-Wai Pang, P. W. Gunning, E. C. Hardeman, S. J. Palmer. 2797W Contribution of POLR3A and POLR3B recessive mutations to hypomyelinating leucodystrophy. H. Daoud, M. Tétreault, K. Choquet, W. Gibson, M. Synofzik, B. Brais, A. Vanderver, G. Bernard. 2798T Identification of disease causing mutations in the serine/threonine kinase VRK1 gene in two siblings with primary microcephaly, neuropathy and spinal muscular atrophy. C. Gonzaga-Jauregui, W. Wiszniewski, J. Reid, D. Muzny, R. A. Gibbs, J. R. Lupski, Baylor- Hopkins Center for Mendelian Genomics. 2799F Molecular screening of patients with CMT2 disease. G. Bergamin, C. Briani, E. Pegoraro, A. Martinuzzi, E. Battiston, F. Boaretto, M. L. Mostacciuolo. 2800W Novel autosomal recessive syndrome characterized by manganese deficiency, cerebellar atrophy, skeletal dysplasia, and cognitive impairment caused by mutation in SLC39A8. C. L. Beaulieu, M. Galvez-Peralta, D. Redl, L. Huang, E. G. Puffenberger, S. C. Hampson, A. E. Chudley, J. N. Scott, R. A. Hegele, D. R. McLeod, A. E. MacKenzie, D. E. Bulman, J. S. Parboosingh, D. W. Nebert, A..M. Innes, K. M. Boycott, FORGE Canada Consortium. 2801T GNAL is a new causative gene for primary dystonia. T. Fuchs, R. Saunders-Pullman, I. Masuho, M. San Luciano, D. Raymond, S. White, E. Ainehsazan, N. Sharma, M. E. Ehrlich, K. Martemyanov, S. B. Bressman, L. J. Ozelius. 2802F Analysis of Aicardi syndrome genome using array CGH and exome sequencing. W. Liu, M. Bainbridge, A. Balasa, X. Wang, D. Murdock, R. Gibbs, I. B. Van den Veyver. 2803W Molecular analysis for Gaucher, Tay-Sach s and Sandhoff disease in Indian patients. J. J. Sheth, M. A. Mistri, C. M. Ankleshwaria, P. Tamhankar, A. Bavdekar, CA. Datar, M. Kamate, S. Gupta, F. J. Sheth. 2804T Progress and challenges in elucidating the molecular genetic basis of cluster headache. L. Southgate, S. Scollen, W. He, A. Moss, M. A. Simpson, B. Zhang, L. Xi, T. Schlitt, M. Weale, C. L. Hyde, J. C. Stephens, C. Sjöstrand, M. B. Russell, M. Leone, S. L. John, R. C. Trembath. 2807T Genetic studies to gain insight into the function of the MeCP2 domains in vivo. L. Heckman, H. Zoghbi. 2808F Combination of linkage analysis and exome sequencing identifies a novel form of autosomal recessive syndromic intellectual deficiency linked to DNA damage response defect. M. Langouet, A. Saadi, C. Bole- Feysot, P. Nitschke, A. Munnich, M. Chaouch, L. Colleaux. 2809W Neuronal cells generated through differentiation of stem cells isolated from patient s skin recapitulate the main features of Niemann Pick C disease. A. Dardis, N. Bergamin, D. Cesselli, S. Zampieri, B. Bembi, A. Beltrami, C. A. Beltrami. 2810T Severely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates. A. Indrieri, V. van Rahden, V. Tiranti, I. Conte, J. Quartararo, M. Morleo, D. Iaconis, R. Tammaro, G. Chesi, M. Cermola, R. Tatè, I. Maystadt, S. Demuth, A. Zvulunov, I. D Amato, P. Goffrini, I. Ferrero, P. Bovolenta, K. Kutsche, M. Zeviani, B. Franco. 2811F Whole exome sequencing reveals novel and known genes mutations in a cohort of centronuclear myopathy patients. P. Agrawal, O. Ceyhan, K. Schmitz, E. Dechene, M. Viola, K. Markianos, A. Beggs. 2812W Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies. S. Cirak, A. R. Foley, R. Herrmann, T. Willer, M. Yau, S. Torelli, P. Vondracek, R. Helen, C. Longman, R. Korinthenberg, G. Marruso, P. Nürnberg, UK10K Consortium, V. Plagnol, M. Hurles, C. Sewry, K. P. Campbell, T. Voit, F. Muntoni. 2813T Prevalence of MECP2 mutations among girls presenting significant clinical overlap between Rett and Angelman syndromes. T. M. R. de Assis, G. A. Molfetta, C. A. Ferreira, C. H. P. Grangeiro, W. A. Silva, Jr. 2814F Identification of six novel NF1 mutations in neurofibromatosis type 1 patients from the Azorean island of São Miguel (Portugal). L. Mota-Vieira, B. Campos, R. Cabral, A. L. Rodrigues, A. Raposo, A. Carvalho. 2815W A pan-european study of the pathological C9orf72 hexanucleotide (G4C2) expansion associated with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. J. van der Zee, I. Gijselinck, L. Dillen, T. Van Langenhove, M. Cruts, C. Van Broeckhoven, Belgian Neurology Consortium and European Early-Onset Dementia Consortium. POSTER SESSIONS 2805F Japanese Chin dogs with GM2 gangliosidosis are homozygous for a HEXA missense mutation and are a potential large animal model for Tay-Sachs disease. D. Gilliam, A. C. Freeman, D. N. Sanders, R. Zeng, D. A. Wenger, G. S. Johnson, M. L. Katz, M. Vandenberg, S. Holmes, M. Kent, R. Rech, E. Howerth, S. R. Platt, D. P. O Brien. 2806W Identification of novel X-linked intellectual disability genes by human X chromosome exome sequencing. T. Wang, T. Niranjan, C. Skinner, M. May, L. Holloway, C. Schwartz. 2816T Identification of novel ALS genes using linkage analysis and next-gen sequencing. K. L. Williams, J. A. Solski, J. C. Durnall, A. D. Thoeng, S. Warraich, G. Rouleau, G. A. Nicholson, I. P. Blair. 2817F The distributions of two SOD1 missense mutations in the pet dog population and their association with canine degenerative myelopathy, a model for amyotrophic lateral sclerosis. R. Zeng, J. R. Coates, L. Hansen, G. C. Johnson, F. A. Wininger, M. L. Katz, G. S. Johnson. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

230 228 POSTER SESSIONS 2818W Explore the impact of parkin mutations in ERassociated protein degradation: Cellular models for juvenile PD. M. Alves-Ferreira, S. Morais, J. Sequeiros, I. Alonso. 2819T A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. M. Gu, W. Xu, L. Sun, W. Guo, J. Ma, S. Chen, W. Huang, Z. Wang. 2820F Identification of the SPG46 gene by nextgeneration sequencing in four families with autosomal recessive complicated spastic paraplegia. G. Stevanin, R. Schüle, K. Smets, E. Martin, S. Zuchner, L. J. Loureiro, A. Boukhris, A. Rastetter, T. de Coninck, M. Gonzalez, E. Mundwiller, F. Lamari, G. Gyapay, P. Coutinho, C. Mhiri, P. de Jongue, E. Kabashi, A. Brice. 2821W A balanced (1q32;14q31) translocation associated with epilepsy, learning disability and leukemia has breakpoints in developmental genes as detected by whole-genome sequencing. M. I. Rees, S. Ali, R. H. Thomas, J. G. Mullins, M. Kerr, S. K. Chung. 2822T A DYNC1H1 mutation causes a quadricepsdominant neurogenic muscular atrophy. S. Saitoh, Y. Tsurusaki, K. Tomizawa, A. Sudo, N. Asahina, H. Shiraishi, J. Ito, H. Tanaka, H. Doi, H. Saitsu, N. Miyake, N. Matsumoto. 2823F Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. S. Tokunaga, A. Hashiguchi, A. Yoshimura, K. Maeda, T. Suzuki, H. Haruki, T. Nakamura, H. Takashima. 2824W Detection of slipped-dnas at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues. M. M. Axford, Y.-H. Wang, M. Nakamori, M. Zannis-Hadjopoulos, C. Thornton, C. E. Pearson. 2825T A lyonization study in heterozygous females for X-linked adrenoleukodystrophy. F. S. Pereira, C. Habekost, U. Matte, L. B. Jardim. 2826F Mutations in CUL4B, a member of the Cullin- RING ubiquitin ligase complex, cause syndromic X-linked intellectual disability associated with short stature. A. K. Srivastava, M. Cook, K. Corrier, L. Lee, S. S. Cathey, F. Bartel, K. R. Holden, C. Skinner, A. D. Chaubey, B. R. DuPont, N. VerBerkmoes, R. J. Schroer. 2827W Identification of novel exon splice enhancers in the growth hormone gene (GH1) mutated in isolated GH deficiency. D. Babu, I. Fusco, S. Mellone, M. Godi, A. Petri, F. Prodam, S. Bellone, P. Momigliano-Richiardi, G. Bona, M. Giordano. 2828T Functional analysis of R75Q dominant mutation and in cis recessive mutation V37I of GJB2 gene causing hearing loss in a Korean family. J. Kim, J. Jung, Y. Kim, J. Choi, K. Lee. 2829F Progressive hearing impairment with homozygous deletion in GJB2 gene (Connexin-26) and normal newborn hearing screening. N. Lublinghoff, E. Löhle, R. Birkenhäger. 2830W Bestrophin mutation within Ca 2 binding domain alters Cl conductance. S. Brar, B. Pattnaik, P. Halbach, S. Tokarz, D. Pillers. 2831T Functional characterization of SLC2A9 allelic variants in Czech population. B. Stiburkova, O. Hurba, V. Krylov, A. Mencikova. 2832F Identification of a missense mutation outside the forkhead domain of FOXL2 causing a severe form of BPES type II. H. Haghighi-Kakhki, A. Haghighi, H. Verdin, N. Piri, N. Saleh-Gohari, E. De Baere. 2833W The UBIAD1 prenyltransferase links menaquione-4 synthesis to cholesterol metabolic enzymes. M. Nickerson, A. Bosley, J. Weiss, B. Kostiha, W. Brandt, T. Andresson, T. Okano, M. Dean. 2834T Intergenic or 5 UTR deletion of transcription factor 4 (TCF4) gene in Pitt-Hopkins syndrome. J. Lee, S.-U. Moon, E. Shin, S. Hassed, J. Chanloner, X. Wang, S. Li. 2835F No evidence of genetic difference for clinical severity between monozygotic twins with Rett syndrome. T. Kubota, K. Miyake, T. Hirasawa, Y. Minakuchi, A. Toyoada. 2836W Two-nucleotide deletion of the ATP7A gene, leading not to premature termination, but to translation reinitiation, produces mild phenotype in a male Menkes disease patient. T. Wada, T. Murakami, H. Shimbo, H. Osaka, H. Kodama. 2837T Retinoic acid induced 1, RAI1: Molecular and functional studies to understand its relationship to neurobehavioral alterations. K. Walz, I. C. Perez, P. Carmona-Mora, C. Abad, C. P. Canales, L. Cao, A. K. Srivastava, J. I. Young. 2838F RAB11FIP1 interacts with the BLOC-1 complex to retrieve melanogenic proteins from the recycling pathway and a dominant negative mutation in RAB11FIP1 causes Hermanksy-Pudlak syndrome type 10. A. R. Cullinane, J. Pan, M. A. Merideth, J. A. Curry, J. G. White, M. Huizing, W. A. Gahl. 2839W Two novel RRM2B gene mutations in a patient with autosomal recessive progressive external ophthalmoplegia, encephalopathy and cytochrome c oxidase deficiency. N. S. Hauser, R. Bai. 2840T Isogenic D4Z4 contracted and non-contracted immortal muscle cell clones as a model for FSHD. S. van der Maarel, Y. Krom, J. Dumonceaux, K. Mamchoui, B. den Hamer, V. Mariot, E. Negroni, L. Geng, R. Tawil, S. Tapscott, B. van Engelen, V. Mouly, G. Butler-Browne. 2841F MEFV second exon variation analysis in familial Mediterranean fever. A. K. Kirectepe, G. Celikyapi Erdem, O. Kasapcopur, E. Tahir Turanli. 2842W Role of NLRP7 in recurrent hydatidiform moles and reproductive wastage. R. Slim, C. Messaed, E. Akoury, W. Chebaro, W. Buckett, J. Arseneau, P. Sauthier. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

231 POSTER SESSIONS T A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy. A. E. Hughes, W. Meng, A. J. Lotery, D. T. Bradley. 2844F Novel splice site mutations in NPHS1 gene in Indian congenital nephrotic syndrome patients. S. Sharma, A. Bagga, M. Kabra. 2845W Genetic basis of prune belly syndrome: Screening the candidate genes. L. Baker, S. Harrison, C. Granberg, C. Villanueva. 2846T DNA copy-number variations in persistent cloaca patients. S. Harrison, L. Baker. 2855T Characterization of transient receptor potential vanilloid channel 4 in metatropic dysplasia primary cell lines. L. M. Hurd, S. M. Kirwin, K. M. Vinette, M. B. Bober, W. G. Mackenzie, R. L. Duncan, V. L. Funanage. 2856F Exome sequencing identifies a de novo missense mutation in TGF-b1 in a sporadic patient with craniotubular bone dysplasia. D. Li, A. Haghighi, F. Salehzade, L. Tian, H. Haghighi-Kakhki, C. Kim, E. Frackelton, F. Otieno, H.-D. Nah, H. Hakonarson. 2857W An intracellular role for FGFR2 in bent bone dysplasia syndrome. C. L. Neben, B. Idoni, A. Sarukhanov, D. Krakow, A. E. Merrill. POSTER SESSIONS 2847F Whole genome sequencing reveals a deletion of the last exon of FAN1 in Basenji dogs with adultonset Fanconi syndrome. G. S. Johnson, F. H. Farias, T. Mhlanga-Mutangadura, J. F. Taylor, D. P. O Brien, R. D. Schnabel. 2848W Formation of a novel N-glycosylation motif in integrin 3 due to a rare ITGA3 gene polymorphism causes congenital nephrotic syndrome and interstitial lung disease. K. Y. Renkema, N. Nicolaou, C. Margadant, S. H. Kevelam, M. R. Lilien, M. J. S. Oosterveld, M. Kreft, A. M. van Eerde, R. Pfundt, P. A. Terhal, B. van der Zwaag, N. Sachs, R. Goldschmeding, N. V. A. M. Knoers, A. Sonnenberg. 2849T Defining the phenotypic specificity of Schimke immuno-osseous dysplasia. M. Morimoto, C. Myung, K. Beirnes, D. Leung, H. K. Fam, K. Choi, Y. Huang, C. F. Boerkoel. 2850F High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. E. A. Otto, J. Halbritter, K. Diaz, B. Tarrier, M. Chaki, C. Fu, J. L. Innis, S. J. Allen, R. H. Lyons, C. J. Stefanidis, H. Omran, N. A. Soliman. 2851W Founder mutation in RPSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. M. A. Zariwala, M. W. Leigh, S. D. Davis, M. C. Armstrong, M. L. Daniels, J. L. Carson, M. Hazucha, S. S. Dell, M. R. Knowles, Genetic Disorders of Mucociliary Clearance Consortium. 2852T Leri s pleonosteosis results from defective SMAD signaling. S. Banka, S. Cain, J. Urquhart, S. Carim, S. Daly, G. Erdem, M. Bottomley, D. Donnai, B. Kerr, H. Kingston, C. Kielty, W. G. Newman. 2853F Abnormal type I collagen folding and matrix deposition in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta. W. A. Cabral, E. Makareeva, M. Weis, S. Leikin, D. R. Eyre, J. C. Marini. 2854W Differential contributions of P3H1 to collagen processing in the pathogenesis of osteogenesis imperfecta. E. P. Homan, C. Lietman, I. Grafe, J. Lennington, R. Morello, W. R. Hogue, D. Napierala, M. M. Jiang, B. Dawson, T. K. Bertin, Y. Chen, R. Lua, O. Lichtarge, J. Hicks, M. A. Weis, D. R. Eyre, B. Lee. 2858T ZDHHC13 is a key regulator in postnatal epiphyseal development. I. W. Song, W. R. Li, J. Y. Wu, M. T. Lee, Y. T. Chen. 2859F Identification of novel genes downstream of FGFR2 contributing to coronal suture synostosis in a murine model for Crouzon syndrome. S. Kumar, E. Peskett, J. A. Britto, E. Pauws. 2860W Identification of copy number variants in 413 isolated talipes equinovarus patients: role of transcriptional regulators of limb development. D. M. Alvarado, J. G. Buchan, S. L. Frick, J. E. Herzenberg, M. B. Dobbs, C. A. Gurnett. 2861T Mutation of B3GAT3 causes skeletal dysplasia in a consanguineous clan from Nias. B. S. Budde, S. Mizumoto, R. Kogawa, C. Becker, J. Altmüller, H. Thiele, P. Frommolt, M. R. Toliat, J. M. Hämmerle, W. Höhne, K. Sugahar, P. Nürnberg, I. Kennerknecht. 2862F Mutation analysis of the BIN1 gene performed to evaluate the cause of centronuclear myopathy in two fetuses of consanguineous parents from Sudan. N. Dohrn, A. Petersen, P. Skovbo, I. S. Pedersen, A. Ernst, H. Krarup, M. B. Petersen. 2863W Novel ROR2 mutations in patients with autosomal recessive Robinow syndrome. J. Mazzeu, H. Kayserilli, C. A. Kim, D. Brunoni, P. C. Pieri, A. Richieri-Costa, H. van Bokhoven, H. G. Brunner, A. M. Vianna-Morgante. 2864T Whole exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. P. Campeau, J. T. Lu, G. Sule, M.-M. Jiang, Y. Bae, S. Madan, W. Högler, N. J. Shaw, S. Mumm, R. A. Gibbs, M. P. Whyte, B. H. Lee. 2865F Polymorphisms in osteoporosis and their associations with bone metabolism. R. Richterová, P. Cibulková, A. Bóday, D. Stejskal, P. Novosad, P. Fojtík, P. Hrdý. 2866W Combination of whole-genone cytogenetics array, high-throughput SNP genotyping, homozygosity mapping and Sanger sequencing identify FXN gene expansion leading to axonal peripheral neuropathy and ataxia phenotype in two consanguineous families from North West Africa. H. Azzedine, B. Hubert, W. Amer, F. Ferrat, M. Chaouch, F. Lagace, R. Fetni, C. Paisan-Ruiz. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

232 230 POSTER SESSIONS 2867T Exome sequencing in small families segregating autosomal dominant non-syndromic hearing loss. H. Azaiez, E. Shearer, K. Booth, M. Hildebrand, N. Meyer, R. J. H. Smith. 2868F Application of massive parallel sequencing for mutation discovery and genetic diagnosis of hereditary hearing loss in Chinese DFNA families. H. Yuan, J. Cheng, Y. Lu, X. Zhou, X. Zhang, R. Choy. 2869W A new gene for autosomal recessive congenital ichthyosis identified by exome sequencing demonstrates impact of ceramide synthesis and acyl chain length for keratinocyte terminal differentiation. K. Eckl, R. Tidhar, M. L. Preil, H. Thiele, I. Hausser, V. Oji, A. Önal-Akan, S. Brodesser, F. Stock, R. Casper, J. Altmüller, P. Nürnberg, H. Traupe, A. H. Futerman, H. C. Hennies. 2870T The NIH Undiagnosed Diseases Program: Defining pathogenicity for personalized medicine. C. F. Boerkoel III, M. C. Malicdan, D. Adams, C. Toro, C. Tifft, W. A. Gahl, T. Markello. 2871F Efficient search for allelically heterogeneous disease genes in whole genome or exome datasets. K. D Aco, M. A. Aquino, N. M. Pearson. 2872W From large-scale clinical recruitment to identification of a novel mutation in ADAMTSL2 in a family with Ehler-Danlos syndrome. A. S. Desai, D. Hadley, L. Tian, C. Kim, E. Frackelton, R. Chiavacci, F. G. Otieno, F. Mentch, H. Hakonarson, K. Wang, S. Pannosian. 2873T Exome sequencing for the knowledgedriven and unbiased disease-mutation search of mitochondrial respiratory chain disorder. M. Kohda, Y. Tokuzawa, Y. Moriyama, H. Kato, N. Uehara, Y. Nakachi, N. Matoba, S. Tamaru, Y. Kishita, T. Yamazaki, M. Mori, K. Murayama, Y. Mizuno, A. Ohtake, Y. Okazaki. 2874F Exome sequencing for disease gene discovery in Jeune s asphyxiating thoracic dystrophy. P. Taylor, S. Wu, S. F. Nelson, D. H. Cohn, D. Krakow. 2875W Seeking causative genes for human congenital general anosmia in multiply-affected Israeli families. A. Alkelai, T. Olender, D. Oz-Levi, I. Keydar, R. Milgrom, E. Feldmesser, E. Ben-Asher, E. K. Ruzzo, D. B. Goldstein, E. Pras, D. Lancet. 2876T Studying a locus for bilateral congenital perisylvian polymicrogyria: Linkage analysis, cytoscan HD array and target enrichment/sequencing approaches. F. R. Torres, S. S. Tsuneda, E. H. Yamamoto, R. Secolin, M. G. Borges, W. T. S. T. Ide, C. S. Rocha, F. M. Artiguenave, F. Cendes, M. Guerreiro, I. Lopes-Cendes. 2877F Targeted exome sequencing for molecular diagnostics of heterogeneous genetic disorders: Primary ciliary dyskinesia. J.-L. Blouin, J. Bevillard, M. Guipponi, C. Gehrig, A. Vannier, F. Santoni, S. E. Antonarakis, F. Fellmann, S. Fokstuen, R. Lazor. 2878W Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. N. Matsumoto, Y. Tsurusaki, N. Miyake. 2879T Identifying mutations causing atypical progeria by exome sequencing and CNV analysis. K. M. McSweeney, L. B. Gordon, J. Xu, W. Ping, M. F. Arlt, J. Li, T. Glover. 2880F Diagnostic sequencing applications using the Ion Torrent. D. Muzny, X. Wang, C. Buhay, M. Wang, H. Dinh, J. Reid, D. Wheeler, L. Lotta, E. Boerwinkle, R. Gibbs. 2881W Next-generation sequencing reveals an allelic variant of GLI2 in a Turkish pedigree with a unique clinical phenotype. D. Pehlivan, A. Yesilyurt, C. G. Gonzaga-Jauregui, E. Karaca, Y. Pehlivan, S. Guran, R. A. Gibbs, J. R. Lupski. 2882T Rapid and efficient mutation detection in the hundreds of target genes by bench-top next generation sequencer with custom target capture method. A. Shimizu, C. Torii, N. Suzuki, H. Mutai, J. Kudoh, R. Kosaki, T. Matsunaga, K. Kosaki. 2883F Identification of candidate genes associated with autosomal dominant pulmonary fibrosis by wholeexome sequencing. W. Wiszniewski, C. G. Gonzaga- Jauregui, T. J. Vece, D. M. Muzny, M. N. Bainbridge, J. G. Reid, R. A. Gibbs, J. R. Lupski, Baylor-Hopkins Center for Mendelian Genomics. 2884W Family matters: Exome sequencing can identify causal variants in isolated probands through familybased studies. H. Yu, C. R. Coughlin, E. A. Geiger, M. Friederich, L. Medne, J. E. Ming, E. H. Zackai, J. L. Van Hove, X. Gai, G. H. Scharer, T. H. Shaikh. 2885T Whole exomic triangulation and systems biology identify novel pathogenic substrates for autosomal dominant long QT syndrome. N. J. Boczek, D. J. Tester, J. R. Giudicessi, T. J. Kamp, M. J. Ackerman. 2886F X-exome sequencing identifies the causal variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynecomastia, hypogonadism and unusual face. J. K. P. van Amstel, M. Harakalova, M. J. van den Boogaard, R. J. Sinke, S. van Lieshout, M. van Tuil, K. Duran, I. Renkens, P. A. Terhal, C. G. F. de Kovel, I. J. Nijman, M. M. van Haelst, N. V. A. M. Knoers, G. van Haaften, W. P. Kloosterman, R. C. M. Hennekam, E. Cuppen. 2887W Completing the BBS jigsaw by exome sequencing and phenotype-genotype correlations: LZTFL1, a BBSome-related gene associated with developmental features is BBS17. H. Dollfus, F. Stutzman, M. Gerard, A. Verioes, E. Schaefer, C. Stoetzel, V. Marion. 2888T Simultaneous identification of single nucleotide mutations and DNA copy number aberrations in neurodevelopmental disorders by exome sequencing. A.-M. Sulonen, H. Almusa, H. Edgren, P. Ellonen, L. Forsstrom, T. Linnankivi, S. Knuutila, J. Saarela. 2889F USP9X mutation in a child with developmental delay and multiple congenital anomalies. M. S. Brett, A. H. M. Lai, E. C. P. Lim, J. R. McPherson, B. W. M. Cham, Z. J. Zang, P. Tan, S. Rozen, E. C. Tan. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

233 POSTER SESSIONS W Congenital cataracts, hypomyelination, progressive microcephaly, digital anomalies: A new recessive syndrome due to mutations in a nucleoporin gene? E. Geraghty, G. Carvill, I. Glass, R. Kapur, D. Doherty, H. Mefford. 2891T Trio-exome sequencing identifies mutations of the gene encoding the histone acetyltransferase KAT6B/MYST4 in individuals with the Young-Simpson syndrome. K. Kurosawa, K. Enomoto, T. Kondoh, S. Mizuno, M. Adachi, K. Muroya, Y. Yamanouchi, T. Nishikawa, N. Furuya, M. Tominaga, T. Naruto, K. Ida, Y. Kuroda, T. Sengstag, R. Manabe, M. Masuno. 2901F Diagnosis of syndromic autism using a 62-gene next-generation sequencing panel: Experience from a clinical diagnostic laboratory. J. R. Jones, M. J. Basehore, S. McGee, K. J. Champion, M. J. Friez. 2902W Empowering a clinical genetic setting through the introduction of whole exome sequencing in prenatal and postnatal investigations. C. Pangalos, B. Hagnefelt, Z. Agioutantis, C. Konialis. 2903T Use of whole exome sequencing to determine the genetic etiology of inherited congenital cataracts. L. M. Reis, R. C. Tyler, E. V. Semina. POSTER SESSIONS 2892F Exome sequencing identifies a missense mutation of ANKRD26 in autosomal dominant thrombocytopenia. C. Kim, P. M. A. Sleiman, L. Tien, S. Panossian, K. Xu, B. Tweddale, N. Abdel-Magid, E. Frackelton, Y. Housawi, H. Hakonarson. 2893W Holoprosencephaly: Identification of new candidate genes by high throughput sequencing of family trios. V. David, C. Dubourg, M. de Tayrac, V. Dupé, M. Aubry, L. Ratié, S. Mercier, J. Mosser, S. Odent. 2894T Exome sequencing reveals a novel de novo GNAS gene mutation in a boy with usual presentation of pseudohypoparathroidism. M. J. Dasouki, S. E. Soden, E. G. Farrow, C. J. Saunders, D. L. Dinwiddie, N. A. Miller, S. F. Kingsmore. 2895F Clinical diagnostic exome identifies novel mutations in the C20orf7 gene, a mitochondrial complex I assembly factor, in a Taiwanese infant with Leigh s disease. J. J. Wei, K. D. Gonzalez, X. Li, H. M. Lu, H. Lu, R. Chang, R. Wang, J. Abdenur, W. Zeng. 2896W De novo mutations in MLL cause Wiedemann- Steiner syndrome. W. D. Jones, D. Dafou, M. McEntagart, W. J. Woollard, F. V. Elmslie, M. Holder-Espinasse, M. Irving, M. Lees, A. K. Saggar, S. Smithson, R. C. Trembath, C. Deshpande, M. A. Simpson. 2897T Targeted resequencing of known and candidate epilepsy genes in 500 patients with epileptic encephalopathies. G. Carvill, B. J. O Roak, S. C. Yendle, J. Cook, N. Krumm, S. F. Berkovic, J. Shendure, I. E. Scheffer, H. C. Mefford. 2898F Deciphering the genetic basis of progressive myoclonus epilepsies by exome sequencing. M. Muona, S. F. Berkovic, L. Dibbens, K. L. Oliver, T. Joensuu, E. Hämäläinen, A. Palotie, A.-E. Lehesjoki. 2899W Mutations in a zinc finger protein cause a novel autosomal recessive mental retardation syndrome identified through homozygosity mapping and whole exome sequencing of a single affected individual. M. Kambouris, T. Ben-Omran, Y. Al-Sarraj, R. Ali, M. Almureikhi, K. Erraffi, H. El-Shanti. 2900T Exome sequencing of seven cases affected by a congenital muscular dystrophy with hyperlaxity belonging to five French-Canadian families. M. Tétreault, G. D Anjou, J. Mathieu, M. Vanasse, B. Brais. 2904F A next-generation sequencing assay for the diagnosis of the Noonan spectrum of disorders. A. B. Santani, T. Tischler, A. Sasson, J. Perin, M. Sarmady, E. Frackelton, B. Tweddale, N. Abdel-Magid, S. Panossian, P. Warren, H. Feret, M. Deardorff, A. Wilkens, M. Italia, B. Ruth, J. Miller, E. Zackai, D. Monos, E. Rappaport, H. Hakonarson, P. White, C. Stolle. 2905W French Canadian founder mutation in the SBDS gene causing Shwachman-Diamond Syndrome. L. Steele, M. Eliou, J. M. Rommens, P. N. Ray, T. L. Stockley. 2906T Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing. D. J. Tester, J. J. Maleszewski, T. M. Kruisselbrink, M. J. Ackerman. 2907F Diagnostic exome sequencing uncovers Mendelian inheritance in neurological disease. E. C. Chao, X. Li, K. Gonzalez, A. Fatemi, J. Cohen, W. Zeng. 2908W Whole exome sequencing identifies potential homozygous mutations in a family with two sisters with brain malformation. E. Karaca, D. Pehlivan, C. G. Gonzaga-Jauregui, M. Ozen, A. Yuksel, W. Wiszniewski, A. Stray-Pedersen, D. Munzy, R. A. Gibbs, J. R. Lupski, Baylor-Hopkins Center for Mendelian Genetics. 2909T Recessive mutations in MYL2 cause infantile fiber type disproportion and cardiomyopathy. M. A. J. Weterman, P. B. Barth, K. Y. van Spaendonck-Zwarts, E. Aronica, B. T. Poll-The, O. Brouwer, J. P. van Tintelen, Z. Qahar, E. J. Bradley, M. B. de Wissel, L. Salviati, C. Angelini, L. van den Heuvel, Y. E. M. Thomasse, A. P. Backx, G. Nuernberg, P. Nuernberg, F. Baas. 2910F Molecular diagnosis in Stargardt s disease through a tiered sequencing approach. J. Zaneveld, H. Wang, F. Wang, L. Mao, K. Zhang, Y. Duan, J. Zhu, J. Chiang, R. Chen. 2911W Identification of mutations in the prostaglandin transporter gene SLCO2A1 in Japanese patients with pachydermoperiostosis. J. Kudoh, T. Sasaki, A. Shimizu, A. Shiohama, A. Hirakiyama, T. Okuyama, A. Seki, K. Kabashima, A. Otsuka, A. Ishiko, K. Tanese, S. Miyakawa, J. Sakabe, M. Kuwahara, M. Amagai, H. Okano, M. Suematsu, H. Niizeki. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

234 232 POSTER SESSIONS 2912T CIAS1 mutations associate with familial Mediterranean fever in Turkish patients and a novel V734G mutation in MEFV. E. Yosunkaya, N. Buyru. 2913F Exome sequencing of a dog trio affected with a canine progressive retinal degeneration. S. J. Ahonen, H. Lohi. 2914W Mutations in NESP4, a KASH domain protein linking the nucleus to the cytoskeleton, lead to hearing impairment in humans and mice. K. B. Avraham, Z. Brownstein, H. F. Horn, D. R. Lenz, S. Shivatzki, A. Dror, K. J. Roux, S. Kozlov, B. Burke, C. L. Stewart. 2915T Genetic characterization of a large keratinization disorder cohort, utilizing whole exome sequencing to discover mutations in known and novel genes. L. M. Boyden, C. Tian, C. Saraceni, E. Loring, L. Milstone, R. P. Lifton, H. Vernon, D. Zand, A. S. Paller, K. A. Choate. 2916F X-linked familial focal segmental glomerulosclerosis with first-degree heart block caused by a mutation in the NXF5 gene. T. Esposito, R. A. Lea, B. H. Maher, D. Moses, H. C. Cox, S. Magliocca, V. D Alessio, A. Angius, T. Titus, T. Kay, A. Parnham, F. Gianfrancesco, L. R. Griffiths. 2917W Mutations in SLC52A2 impair riboflavin transport and cause Brown-Vialetto-Van Laere syndrome. T. B. Haack, C. Makowski, Y. Yao, E. Graf, M. Hempel, T. Wieland, U. Tauer, U. Athing, J. A. Mayr, P. Freisinger, H. Yoshimatsu, K. Inui, T. M. Strom, T. Meitinger, A. Yonezawa, H. Prokisch. 2918T Identification of a causative variant underlying nonsyndromic autosomal-dominant intellectual disability in an extended family. N. Jinawath, B. Pupacdi, E. Wohler, V. Charoensawan, D. Wattanasirichaigoon. 2919F Targeted exome capture and paired-end massively parallel sequencing reveals new mutations for human hereditary deafness in the Middle East. M. Kanaan, Z. Brownstein, A. Abu Rayyan, D. Karfunkel, D. Dweik, Y. Bhonker, A. Yeheskel, L. Friedman, N. Kol, O. Yaron, V. Oron-Karni, M. Frydman, N. Shomron, K. B. Avraham. 2920W Defective ion transport in sweat glands cause generalized isolated anhidrosis. J. Klar, M. Sobol, K. Mäbert, M. Tariq, M. Rasool, M. Jameel, T. Naeem, N. A. Malik, A. Johansson, L. Feuk, S. M. Baig, N. Dahl. 2921T Exome sequencing identifies a novel mutation in GJA1 as the cause of alopecia, leukonychia, skin hyperkeratosis and craniofacial anomalies. Z. Lin, H. Wang, J. Zhang, Q. Chen, M. Lee, X. Wang, R. Li, Y. Yang. 2922F Mutation discovery in ENU-derived mouse models for metabolic bone disease by whole chromosome and whole exome sequencing. B. Lorenz- Depiereux, S. Sabrautzki, S. Diener, E. Graf, T. Wieland, A. Benet-Pagès, S. Eck, B. Rathkolb, M. Klaften, J. A. Aguilar-Pimentel, J. Calzada-Wack, E. Janas, E. Wolf, M. Ollert, F. Neff, M. Hrabé de Angelis, T. M. Strom. 2923W Exome sequencing identified a novel mutation in CACNA1S in a Japanese family with malignant hyperthermia. N. Matoba, H. Iwasa, M. Kohda, Y. Yatsuka-Kanesaki, Y. Ichihara, H. Kikuchi, Y. Suzuki, S. Sugano, Y. K. Hayashi, I. Nishino, Y. Okazaki. 2924T Identification of a novel missense mutation in RAD51 in a large family with congenital mirror movements. O. E. Onat, S. Gulsuner, R. Bilgen, G. M. Dal, K. Bilguvar, H. Boyaci, K. Doerschner, H. Uysal, M. Gunel, T. Ozcelik. 2925F De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause genitopatellar syndrome. M. A. Simpson, C. Deshpande, D. Dafou, L. E. L. M. Vissers, W. J. Woollard, S. E. Holder, G. Gillessen- Kaesbach, R. Derks, S. M. White, P. Cohen-Snuijf, S. G. Kant, L. H. Hoefsloot, W. Reardon, H. G. Brunner, E. M. F. H. Bongers, R. C. Trembath. 2926W Focal facial dermal dysplasia, type IV is associated with mutations in CYP26C1. A. Slavotinek, P. Mehrotra, B. Li, I. Nazarenko, P. Ling-Fung, R. Z. Lao, C. Chu, M. Yahyavi, C. Chou, A. L. Marqueling, K. Cordoro, I. Frieden, M.-A. Morren, K. Devriendt, T. Prescott, T. Glaser, P.-Y. Kwok, M. Petkovich, R. Desnick. 2927T Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2. H. Verdin, B. P. Leroy, B. D haene, F. Coppieters, S. Lefever, P. G. Kestelyn, E. De Baere. 2928F Mutations in HOXB1 cause autosomal recessive congenital facial palsy with sensorineural hearing loss and strabismus. B. D. Webb, S. Shaaban, H. Gaspar, L. F. Cunha, C. R. Schubert, K. Hao, C. D. Robson, W. Chan, C. Andrews, S. MacKinnon, D. T. Oystreck, D. G. Hunter, A. J. Iacovelli, X. Ye, A. Camminady, E. C. Engle, E. W. Jabs. 2929W Genetic heterogeneity underlying female infertility and sensorineural hearing loss and identification of LARS2 as a third gene for Perrault syndrome. S. B. Pierce, T. Walsh, R. Michaelson-Cohen, R. E. Klevit, M.-C. King, K. Gersak, E. Levy-Lahad. 2930T Exome sequencing in apparently recessive and apparently X-linked HSP families identifies an ATL1 mutation hotspot which is associated with low penetrance dominant inheritance. C. Beetz, R. E. Varga, H. Fadel, R. Schüle, I. Valenzuela, F. Speziani, G. Rudenskaja, G. Nürnberg, H. Thiele, J. Altmüller, V. Alvarez, J. Gamez, P. Nürnberg, S. Zuchner. 2931F Autosomal recessive lethal congenital contractural syndrome type 4 caused by a mutation in MYBPC1. O. S. Birk, B. Markus, G. Narkis, R. Z. Birk, I. Cohen, D. Landau. 2932W Exome sequencing of a pedigree with caudal regression syndrome. G. Cheng, E. H. M. Wong, P. C. Sham, S. S. Cherny, S. Maas, S. W. Scherer, C. R. Marshall, S. L. Pereira, P. K. H. Tam, M.-M. Garcia-Barceló. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

235 POSTER SESSIONS T Loss of function mutations in OMIM genes reveal a burden of disease susceptibility in a consanguineous population. K. A. Fakhro, J. L. Rodriguez-Flores, N. R. Hackett, J. Salit, J. Fuller, J. A. Malek, L. Chouchane, R. Badii, A. Al-Marri, J. G. Mezey, R. G. Crystal. 2934F Causal gene discovery in Mendelian disorders using whole exome sequencing. S. Jhangiani, M. Bainbridge, J. Lu, M. Wang, H. Dinh, Y. Han, J. Santibanez, M. Caramins, P. Campeau, B. Lee, J. Reid, J. Lupski, E. Boerwinkle, D. Muzny, R. Gibbs. 2935W Whole genome sequencing and copy number analysis of exome sequencing in two families with splithand/split-foot malformation identifies chromosomal rearrangements affecting putative exonic enhancers. H. Lango Allen, R. Caswell, P. Turnpenny, C. Turner, C. Wragg, W. Xie, M. Weedon, X. Xu, S. Ellard. 2936T Searching novel genes for hereditary hearing loss in multiplex families using next generation sequencing. Y. H. Lin, C. C. Wu, Y. C. Lu, C. J. Hsu, P. L. Chen. 2937F Combination of genomic technologies and consanguinity in order to identify pathogenic variants in recessive disorders. P. Makrythanasis, M. Nelis, F. Santoni, M. Guipponi, F. Béna, A. Vannier, G. Duriaux- Sail, S. Gimelli, E. Stathaki, E. Falconnet, S. Temtamy, A. Megarbane, M. Aglan, M. S. Zaki, S. Fokstuen, A. Bottani, A. Masri, S. Psoni, S. Kitsiou, H. Fryssira, N. All-Allawi, A. Sefiani, S. Al-Hait, S. Elalaoui, N. Jalkh, L. Al-Gazali, F. Al-Jasmi, H. Chaabouni Bouhamed, H. Hamamy, S. E. Antonarakis. 2938W A single exome variant is the only expected variant by likelihood ratio for a rare heritable de novo dominant disorder in a three generation family with two affected. S. M. Marchegiani, T. C. Markello, L. A. Wolfe, K. Fuentes-Fajardo, D. R. Adams, W. A. Gahl, J. C. Mullikin, T. Davis, J. P. Accardi, C. J. Tifft, C. F. Boerkoel, NISC Comparative Sequencing Program. 2939T Whole-genome sequencing identifies mutations in known and novel genes for early infantile epileptic encephalopathy. H. C. Martin, A. T. Pagnamenta, K. Hudspith, A. Rimmer, R. Copley, E. Sadighi Akha, J. Broxholme, A. Kanapin, J.-B. Cazier, D. Shears, H. Stewart, D. Bentley, J. Taylor, E. Blair, P. Donnelly. 2940F Novel intellectual disability genes identified by exome sequencing. R. Rabionet, O. Drechsel, A. Puig, J. Gonzalez, I. Madrigal, M. I. Alvarez, N. Baena, M. Viñas, S. Ossowski, M. Guitart, M. Mila, X. Estivill. 2941W Targeted deep resequencing identifies a mutation in MID2, as causal for X-linked intellectual disability with varied disease severity. B. K. Thelma, S. G. Thenral, A. Michealraj, M. Kabra, G. Kaur, R. C. Juyal. 2942T Exome sequencing and functional biology reveal novel genes causing infantile mitochondrial encephalopathy. P. Bonnen, A. Besse, T. Donti, S. Lalani, F. Scaglia, W. Craigen, B. Graham. 2943F TIMM44 mutations identified by family-based WES cause severe mitochondrial respiratory chain disease due to defective mitochondrial protein import. M. J. Falk, S. Srinivasan, S. Dingley, J. Ostrovsky, M. Tsukikawa, E. Polyak, E. Place, M. Consugar, J. C. Perin, N. Avadhani, E. A. Pierce, X. Gai. 2944W A novel form of limb girdle muscular dystrophy caused by impairment of an ER-to-Golgi trafficking component. N. Bögershausen, Y. Li, J. C. von Kleist- Retzow, R. Wirth, G. Nürnberg, H. Thiele, J. Altmüller, B. Schoser, P. Nürnberg, R. Heller, B. Wollnik. 2945T Tackling giants with next-generation sequencing: homozygous or compound heterozygous truncating mutations of TTN from exome analysis define novel forms of cardiomyopathy with skeletal myopathy. C. Chauveau, C. Julien, H. Marks, R. Foley, A. L. Kho, B. Talim, M.-C. Arne-Bes, E. Uro-Coste, P. Maury, A. Vihola, B. Udd, H. Topaloglu, S. Moore, M. Gautel, C. Bonnemann, M.-E. Samuels, A. Ferreiro. 2946F Exome sequencing for the molecular diagnosis of muscle disorders: Successes and challenges encountered. K. K. McDonald, J. Stajich, C. P. Blach, A. E. Ashley-Koch, M. A. Hauser. 2947W Usher-exome: An efficient diagnostic approach when used in combination with LSDB USHBases, Variant Manager USHVAM and USMA. A. F. Roux, T. Besnard, G. Garcia Garcia, D. Baux, C. Vaché, L. Larrieu, V. Faugère, J. Millan, M. Claustres. 2948T Loss of function mutations in HINT1 are a major cause of autosomal recessive axonal neuropathy with neuromyotonia. M. Zimon, J. Baets, L. Almeida-Souza, J. Nikodinovic, Y. Parman, E. Battaloglu, V. Guergueltcheva, I. Tournev, M. Auer-Grumbach, P. De Rijk, T. Müller, E. Fransen, P. Van Damme, W. Löscher, N. Bariš i ć, Z. Mitrovic, S. Previtali, H. Topaloglu, G. Bernert, A. Beleza-Meireles, B. Ishpekova, K. Peeters, A. Hahn, S. Züchner, V. Timmerman, P. Van Dijck, V. Milic Rasic, A. Janecke, P. De Jonghe, A. Jordanova. 2949F Identification of novel genes in human primary immunodeficiency diseases using exome sequencing. S. Khan, B. Wakeland, C. Liang, M. De la Morena, N. Van Oers, E. Wakeland. 2950W The ADAMTS18 gene is responsible for autosomal recessive syndromic retinal dystrophy. S. Banfi, I. Peluso, F. Testa, M. Pizzo, R. Collin, N. Meola, M. Mutarelli, G. Dharmalingam, M. Melone, I. Conte, F. Simonelli. 2951T Novel PLP1 gene mutation discovered by whole genome sequencing in brothers with infantile onset dopa-responsive dystonia and delayed central nervous system demyelination. R. L. Margraf, J. Durtschi, K. Mallempati, J. Bonkowsky, R. Lutz, K. V. Voelkerding, K. J. Swoboda. 2952F Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: Assessment of GJB4 and GJA1. D. Kooshavar, M. R. Noori Daloii, M. Hashemzadeh Chaleshtori. POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

236 234 POSTER SESSIONS 2953W Exocrine and endocrine pancreatic damage in cystic fibrosis are associated with SLC26A9. D. Soave, T. Chiang, M. Miller, D. Su, K. Keenan, W. Li, W. Ip, F. Wright, S. Blackman, H. Corvol, M. Knowles, G. Cutting, M. Drumm, L. Sun, J. Rommens, P. Durie, L. Strug. 2954T Clinical findings of a three-generation family with GLA nonsense mutation (W162X). E. Severin, A. Stan, C. Dragomir, G. J. Sarca. 2955F Targeted array-cgh analysis to identify copynumber changes underlying ciliopathies. A. Lindstrand, C. Carvalho, D. Pehlivan, R. D. Clark, C. A. Johnson, H. Omran, B. Franco, H. Kremer, P. L. Beales, P. J. Scambler, E. R. Maher, J. R. Lupski, N. Katsanis. 2956W Is the R202Q mutation clinically relevant in familial Mediterranean fever, though? S. Duzenli, A. O. Arslan. 2957T Molecular basis of microphthalmia/ anophthalmia. N. Chassaing, A. Causse, A. Delahaye, A. Vigouroux, P. Calvas. 2958F Identification and functional investigation of non-coding NIPBL regulatory elements. D. Braunholz, J. Wilde, L. D. Michelis, K. S. Wendt, E. Watrin, J. Eckhold, I. D. Krantz, G. Gillessen-Kaesbach, M. A. Deardorff, F. J. Kaiser. 2959W Molecular genetic studies of nonsyndromic oculocutaneous albinism in the Pakistani population. T. Jaworek, T. Kausar, N. Tariq, S. Sadia, M. I. Maqsood, A. Sohail, M. A. Bhatti, M. Ali, S. Riazuddin, R. S. Shaikh, Z. M. Ahmed. 2960T A case of lymphedema with microcephaly and chorioretinopathy with a mutation in the KIF11 gene. D. Finegold, E. Lawrence, K. Levine, R. Ferrell. 2961F mirna-411 negatively regulates YAF2 and myogenic factors. Y. Chen, N. Harafuji, P. Schneiderat, M. C. Walter. 2962W Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. F. Rahimov, O. D. King, D. G. Leung, G. M. Bibat, C. P. Emerson, Jr., K. R. Wagner, L. M. Kunkel. 2963T The second most prevalent mutation of fukutin in Japanese Fukuyama muscular dystrophy. K. Kobayashi, R. Kato, E. Kondo, M. Osawa, K. Saito, T. Toda. 2964F Molecular study of KRT14 mutations for making a screening panel test for Iranian patient affected with epidermolysis bullosa. M. Mahdavi, M. Moghaddam, A. Kakavand, N. Hatamnejadian, B. Sedaghati Khayat, H. Dehghanpour, A. Ebrahimi. 2965W Mutations in ANO5 in the Norwegian limb girdle muscle dystrophy population. M. Van Ghelue, M. Ingebrigtsen, A. Skogstad, B. Hestholm, C. Wahl, S. I. Mellgren, F. Rasmussen, M. Rasmussen, B. Karimé, C. Jonsrud. 2966T Mutation of the EYS gene implicated in autosomal recessive retinitis pigmentosa leads to abnornmal cellular aggregates and cell death. W. Mustill, P. Kruczek, A. C. Zelhof, S. S. Bhattacharya. Prenatal, Perinatal and Reproductive Genetics 2967T Mitochondrial DNA variations in human ova and blastocyst and its clinical implications and IVF outcome. M. Shamsi, G. Periyasamy, L. Chawla, N. Malhotra, N. Singh, S. Mittal, P. Talwar, K. Thangaraj, R. Dada. 2968T Cumulus cell microrna profiles are associated with oocyte aneuploidy. B. R. McCallie, J. C. Parks, N. Treff, R. T. Scott, W. B. Schoolcraft, M. G. Katz-Jaffe. 2969T Prenatal diagnosis of sirenomelia by combining two-dimensional ultrasound, new fetal skeletal rendering, three-dimensional helical computer tomography and magnetic resonance imaging. X.-L. Chen, R. Liu, X.-H. Yang, N. Zhong. 2970T Comparative study on quantitative parameters of blood perfusion and microvessel density in placenta of rat model of preeclampsia evaluated with contrastenhanced ultrasound. Y.-Q. Xu, X.-L. Chen, X.-J. Lu, X.-H. Yang, P.-W. Chen, J.-H. Huang, C. Huang, Z.-L. Lu, N. Zhong. 2971T Prenatal ultrasound and autopsy findings in Simpson-Golabi-Behmel syndrome. K. Chong, J. Jessen, M. Injeyan, K. Fong, S. Salem, S. Keating, P. Shannon. 2972T Testing the most frequent genetic diseases optimizes abnormal gene identity and test accuracy worldwide. R. Lebo. 2973T Single nucleotide polymorphism based method for fetal fraction quantification in maternal plasma using massively parallel sequencing. G. Hogg, J. Tynan, M. Tang, S. Sovath, A. Maer, D. van den Boom, P. Oeth. 2974T The Pregnancy and Health Profile Pilot Project: Evaluating the impact of integrating a novel family history and genetic screening tool on patients, providers, and clinical practice. E. Edelman, B. Lin, T. Doksum, B. Drohan, K. Hughes, S. Dolan, V. Edelson, J. O Leary, L. Vasquez, S. Copeland, J. Scott. 2975T Chromosomal structural abnormalities among Filipino couples with recurrent pregnancy losses. E. C. Cutiongco-de la Paz, A. D. Berboso, E. G. Salonga, C. M. David-Padilla. 2976T Factor II G20210A and factor V G1691A mutations and methylenetetrahydrofolate reductase C677T polymorphism in 155 women with repeated pregnancy loss. S. Seyedhassani, M. Houshmand, M. Neshan, F. Saeb. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

237 POSTER SESSIONS T Functional consequences of miscarriage copy number variations. J. Wen, C. W. Hanna, S. Martell, P. C. K. Leung, W. P. Robinson, M. Stephenson, E. Rajcan- Separovic. 2978T The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy. T. Musci, H. Brar, E. Wang, B. Brar, A. Y. Batey, A. Oliphant, M. E. Norton. 2979T Role of E2F1 in testicular descent and fertility. C. Jorgez, J. Addai, J. Newberg, V. Vangapandu, A. Sahin, J. Rosenfeld, L. Lipshultz, D. Lamb. 2980T Study of four SNPs in SLC6A14, INSR, TAS2R38 and OR2W3 genes for association with Iranian idiopathic infertile men. E. Siasi, A. Aleyasin. 2981T NLRP7 subcellular localization in human oocytes and early cleavage stages. E. Akoury, L. Zhang, M. Seoud, A. Ao, R. Slim. 2982T Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. D. F. Conrad, A. Lopes, K. I. Aston, F. Carvalho, J. Goncalves, R. Mathiesen, N. Huang, A. Ramu, J. Downie, S. Fernandes, A. Amorim, A. Barros, M. Hurles, S. Moskovtsev, C. Ober, J. Schiffman, P. N. Schlegel, M. De Sousa, D. T. Carrell. 2990T Identification of messenger RNA of fetoplacental source in maternal plasma of women with normal pregnancies and pregnancies with intrauterin growth restriction. P. Ayala Ramírez, R. García Robles, J. D. Rojas, M. Bermúdez, J. Bernal Villegas. 2991T Instant familial haplotyping in conjunction with embryo analysis in preimplantation genetic diagnosis using DNA microarrays. G. Altarescu, D. A. Zeevi, S. Zeligson, S. Perlberg, T. Eldar-Geva, E. J. Margalioth, E. Levy Lahad, P. Renbaum. 2992T Role of cytokines in recurrent miscarriages. F. Parveen, S. Agrawal. 2993T Developmental neuropsychological assessment of 4-5-year-old children born after preimplantation genetic diagnosis: A pilot study. G. Sacks, J. Guedalia, T. Eldar-Geva, T. Gilboa, E. J. Margalioth, E. Levy-Lahad, G. Altarescu. 2994T Terminological clarification in PGD: Could it reframe the debate? S. Côté, P. Hamet. 2995T A novel, generic, preimplantation genetic diagnosis protocol applied to cystic fibrosis involving mutation detection through high resolution melting analysis and simultaneous haplotype analysis through QF-PCR. A. Destouni, M. Poulou, G. Kakourou, C. Vrettou, J. Traeger-Synodinos, I. Fylaktou, E. Kanavakis, M. Tzetis. POSTER SESSIONS 2983T A homozygous deletion of DPY19L2 gene is a cause of globozoospermia in men from the Republic of Macedonia. D. Plaseska-Karanfilska, P. Noveski, S. Madjunkova, I. Maleva, V. Sotiroska, Z. Petanovski. 2984T Decreased puberty and fertility development in NELF KO mice due to impaired GnRH neuron migration. S. Quaynor, L. Chorich, R. Cameron, L. Layman. 2985T Deficiency of PRSS37, a putative trypsin-like serine protease, causes male infertility from mouse to human. Z. G. Wang, C. L. Shen, J. B. Liu, J. S. Feng, Y. Kuang, H. X. Zhang, W. T. Wu, J. Chi, L. Y. Tang, J. Fei. 2986T Changes in placental DNA methylation may be associated with karyotypically normal miscarriage. C. W. Hanna, D. E. McFadden, W. P. Robinson. 2987T Co-culture of mouse embryonic stem cells with Sertoli cells promote in vitro generation of germ cells. M. Miryounesi, K. Nayernia, M. Dianatpour, S. Savad, M. H. Modarressi. 2988T Androgen receptor CAG repeat length may influence the risk of polycystic ovarian syndrome. J. C. Silas, R. Singh, S. Nirmala Sadasivam, M. N. Sadasivam, L. Singh, K. Thangaraj. 2989T An analysis of the initial experience offering cellfree fetal DNA testing to pregnant women. J. Taylor, A. Ables, L. Hudgins. 2996T PGD and heteroplasmic mitochondrial DNA point mutations: A systematic review estimating the chance of healthy offspring. D. M. E. I. Hellebrekers, R. Wolfe, A. T. M. Hendrickx, I. F. M. de Coo, C. E. de Die, J. P. M. Geraedts, P. F. Chinnery, H. J. M. Smeets. 2997T Successful pre-implantation genetic diagnosis in isolated sulfite oxidase deficiency: A happy end to the saga of a devastating neurogenetic disorder. A. Kondkar, K. Abu-Amero, M. Salih, T. Bosley. 2998T Outcomes of 687 in vitro fertilization cycles and 5871 embryos evaluated using 23-chromosome single nucleotide polymorphism microarray preimplantation genetic screening for recurrent pregnancy loss. K. J. Tobler, P. R. Brezina, A. T. Benner, L. Du, B. Boyd, W. G. Kearns. 2999T Cleavage-stage blastomere biopsy significantly impairs human embryonic reproductive potential while blastocyst-stage trophectoderm biopsy does not: A paired randomized controlled trial utilizing SNP microarray-based DNA fingerprinting. N. R. Treff, K. M. Ferry, T. Zhao, J. Su, E. J. Forman, R. T. Scott, Jr. 3000T Comparison of two whole genome amplification methods for preimplantation genetic diagnosis with HLA typing on beta-thalassaemia. Q. Wang, J. F. C. Chow, W. S. B. Yeung, E. H. Y. Ng, P. C. Ho. 3001T Preimplantation genetic diagnosis for a carrier of complex chromosome rearrangement resulting in a healthy offspring. K. Writzl, A. Veble, B. Peterlin. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

238 236 POSTER SESSIONS 3002T Preimplantation genetic diagnosis in genomic regions with duplications and pseudogenes: Long range PCR in the single cell assay. D. A. Zeevi, R. Ron El, P. Renbaum, E. Kasterstein, D. Strassburger, D. Komarovsky, B. Maslanski, I. Ben-Ami, O. Bern, A. Komski, E. Levy Lahad, G. Altarescu. 3003T TAR syndrome diagnosis confirmed by acgh analysis. S. Ceylaner, Y. K. Terzi, S. Kalyoncu, F. I. Sahin. 3004T Prenatal detection of anophthalmia in three cases with significantly different neonatal outcomes. T. Bardakjian, D. Dorsainville, A. Schneider. 3005T Antenatal detection of a fetus with bilateral anophthalmia and pulmonary hypoplasia: A rare case report. C. C. Albu, D. F. Albu, M. Dumitrescu, E. Severin. 3006T Outcomes following antenatal diagnosis of ultrasonographically isolated cleft lip with or without cleft palate. A. Lehman, L. Burnell, C. Verchere, D. Pugash, S. Robertson, A. Loo. 3007T cfdna is not compromised by temperature stress of maternal blood collected in Streck cell-free DNA BCT. A. Huang, A. Srinivasan, V. Nguyen, J. Cheng, J. Sprowl, R. Van Luchene, A. Aziz, D. Comstock. 3008T Effective epigenetic biomarker in first-trimester maternal plasma for non-invasive fetal trisomy 21 detection. J. Lim, D. Lee, S. Kim, M. Kim, S. Park, Y. Han, M. Kim, M. Kim, K. Choi, H. Ryu. 3009T Prenatal diagnosis of a fetus with mosaic trisomy 18, omphalocele and severe intrauterine growth restriction: Case report. D. F. Albu, C. C. Albu, A. Oncescu, E. Severin, M. Dumitrescu. 3010T Chromosomal abnormalities in prenatal diagnosis: An Indian perspective. B. B. Ganguly, N. N. Kadam. 3011T A powerful smart tip method for nucleic acid extraction and enrichment of cell-free fetal DNA from maternal plasma. A. Gindlesperger, T. Stokes, P. Belgrader, R. Holmberg. 3012T Prenatal detection of a supernumerary dicentric chromosome 15 through cytogenetics and array CGH after fetal ultrasound findings of micrognathia and small stomach bubble. J. L. Giordano, L. Cohen, V. Pulijaal, S. Gelber. 3013T Prenatal diagnosis and fetal autopsy findings in Aicardi syndrome. M. C. Injeyan, I. Miron, P. Shannon, A. Malinowski, S. Blaser, D. Chitayat. 3014T High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. T. J. Jensen, T. Zwiefelhofer, R. C. Tim, Z. Dzakula, S. K. Kim, A. R. Mazloom, G. McLennan, C. Deciu, D. van den Boom, M. Ehrich. 3015T Isolation of selected, single chromosomes from the isolated circulating fetal cells for clonal expansion, molecular profiling, and next-generation sequencing. M. Malecki, R. Malecki. 3016T Noninvasive prenatal sex determination using massively parallel sequencing in samples from a large clinical validation study. P. Oeth, A. Mazloom, T. Wang, G. E. Palomaki, J. A. Canick, A. Bombard, D. van den Boom, M. Ehrich, C. Deciu. 3017T MeDIP real time qpcr of maternal peripheral blood reliably identifies trisomy 21. P. Patsalis, E. Tsaliki, C. Spyrou, G. Koumbaris, E. Kypri, S. Kyriakou, C. Sotiriou, E. Touvana, A. Keravnou, A. Karagrigoriou, K. Lamnissou, V. Velissariou, C. Sismani, E. A. Papageorgiou. 3018T Highly accurate non-invasive detection of fetal aneuploidy of chromosomes 13, 18, 21, X and Y by targeted sequencing. M. Rabinowitz, G. Gemelos, M. Hill, B. Levy, S. McAdoo, M. Savage, Z. Demko. 3019T Accuracy of prenatal diagnosis in elective termination of pregnancy. J. Saraiva, F. Ramos, S. Maia, M. Branco, J. Raposo, J. Sá, S. Sousa, M. Venâncio, R. Pina, E. Galhano, L. Ramos. 3020T Non-Invasive Chromosomal Evaluation Study: Results of a multicenter, prospective, cohort study for detection of fetal trisomy 21 and trisomy 18. K. Song, H. Brar, J. Weiss, A. Karimi, L. C. Laurent, A. B. Caughey, M. H. Rodriguez, J. Williams, III, M. E. Mitchell, C. D. Adair, H. Lee, B. Jacobsson, M. W. Tomlinson, D. Oepkes, D. Hollemon, A. B. Sparks, A. Oliphant, M. E. Norton, NICE Study Group. 3021T Detection of fetal sub-chromosomal alterations in maternal plasma cell-free DNA using massively parallel sequencing. A. Srinivasan, X. Li, J. Sprowl, A. Huang, A. Sehnert, R. Rava. 3022T Approach to prenatally diagnosed esophageal atresia/tracheoesophageal fistula. B. Suskin, S. Klugman, T. Goldwaser, A. Roe, K. Bajaj. 3023T Quantification of fetal DNA in maternal plasma by massively parallel sequencing using fetal-specific methylation markers. M. Tang, J. Tynan, S. Sovath, A. Maer, G. Hogg, D. van den Boom, P. Oeth. 3024T Curated gene set outperforms GWAS data on pathway-based genetic analysis. J. Padbury, A. Uzun, A. Dewan, S. Istrail. 3025T Analysis of etiology and complications among 1,128, including 493 iatrogenic and 635 spontaneous, Chinese preterm births. M. Xiao, W. Ren, N. Zhong. 3026T Admixture mapping identifies susceptibility loci associated with preterm birth in African Americans. H. Tsai, X. Liu, X. Hong, G. Wang, T. Chang, Q. Chen, C. Pearson, D. Caruso, L. Heffner, B. Zuckerman, X. Wang. 3027T Single nucleotide polymorphism in Toll-like receptor 6 is associated with risk for Ureaplasma respiratory tract colonization and bronchopulmonary dysplasia in preterm infants. A. H. Winters, T. D. LeVan, S. N. Vogel, K. L. Chesko, T. I. Pollin, R. M. Viscardi. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

239 POSTER SESSIONS T Genome-wide association study of preterm delivery in mothers. F. Geller, B. Feenstra, M. Melbye, R. Myhre, S. Myking, Early Growth Genetics Consortium, T. I. A. Sørensen, P. Magnus, M. L. Marazita, J. C. Murray, B. Jacobsson. 3029T Evidence of SNP variation in the folic acid metabolic pathway associates with preterm birth. Y. Chen, B.-J. Wang, M.-J. Liu, Y. Wang, J. Mao, S.-N. Wang, J.-R. Dai, H. Li, N. Zhong. 3030T Investigation of genetic risk factors for chronic adult diseases in preterm birth. N. Falah, J. McElroy, V. Snegovskikh, C. Lockwood, E. Kuczynski, E. Norwitz, J. Murray, R. Menon, K. Teramo, L. Muglia, T. Morgan. 3031T Maternal SNPs in the p53 pathway: Risk factors for aneuploidy 21? A. P. C. Brandalize, J. A. Boquett, L. R. Fraga, L. Schuller-Faccini. 3032T Disomy 21 mosaicism in sperm. E. Iwarsson, U. Kvist, M. A. Hultén. 3033T DiGeorge sequence due to uncontrolled maternal gestational diabetes. A. Ludtke, T. Mucci, M. Aquino, E. Graber, L. Mehta. 3034T Investigation of telomere length in newborns and correlation with gestation age and birth weight. E. C. Tan, S. N. Lim, Z. Yahya, D. Zeegers, T. Moe, E. E. P. Kyaw, G. S. H. Yeo, M. P. Hande. Clinical Genetics and Dysmorphology 3035W A case of arthrogryposis and mosaic Turner syndrome. L. Mora, A. Lopez, I. Zarante. 3036F Paternal uniparental disomy 6 and 2q13 deletion detected prenatally in a patient with cardiac defects, transient neonatal diabetes mellitus, hydrocephalus and dysmorphic features. D. Niyazov, C. Tillis, D. Feliperamirez, A. Robichaux. 3037W Congenital acquired mosaicism for monosomy 7. J. Hiemenga, S. Klemm, J. Foley, H. Toriello. 3038F Overgrowth as a presenting symptom of the 22q11.2 duplication syndrome: A novel association. D. McDonald-McGinn, E. Bratton, K. Dickinson, A. Kohut, A. Bailey, A. Wilkens, I. Krantz, B. Emanuel, S. Saitta, M. Deardorff, E. H. Zackai. 3039W Down syndrome patients nutritional evaluation at the Hospital para el Nino Poblano outpatients. M. Cortes, J. M. Aparicio, R. J. M. Perez, F. E. P. Romero. 3040F Follow-up of patient with non-supernumerary ring chromosome 7: Clinical manifestations, cytogenetic and molecular analysis. C. Salas, P. Perez- Vera, D. Cervantes, R. Cruz-Alcivar, R. Daber, L. Conlin, L. Leonard, N. B. Spinner, C. Durán-McKinster, V. Del Castillo-Ruiz. 3041W Mowat-Wilson syndrome: Case report. J. Acosta Guio, A. Zarante. 3042F The association of low socioeconomic status and the risk of having children with Down syndrome: A report from the National Down Syndrome Project. J. E. Hunter, E. G. Allen, L. J. H. Bean, S. B. Freeman, S. L. Sherman. 3043W Surgical intervention for esophageal atresia in patients with trisomy 18. E. Nishi, T. Nakamura, K. Iio, S. Mizuno, H. Kawame, Y. Fukushima, T. kosho. 3044F Mosaic supernumerary ring chromosome 3: Does copy number gain of FOXP1 contribute to expressive speech impairment and intellectual disability? I. Filges, A. Datta, E. Boehringer, L. Suda, B. Roethlisberger, P. Miny. 3045W Cat eye syndrome: Wide clinical variability in three patients from the same family. M. I. Melaragno, S. I. Belangero, A. N. Pacanaro, F. T. Belucco, D. M. Christofolini, L. D. Kulikowski, R. S. Guilherme, A. Bortolai, A. R. Dutra, F. B. Piazzon, M. C. Cernach. 3046F Maternally inherited Xq26.2 duplication in a male offspring with severe prenatal and postnatal growth deficiency, dysmorphic facial features, hydrocephalus and developmental delay resembling Russell-Silver syndrome. L. Tuzovic, J. Wynn, L. Rohena, K. Anyane- Yeboa, A. Iglesias. 3047W De novo translocation disrupting mediator complex subunit in a patient with Pierre-Robin sequence and developmental delay. K. H. Utami, A. M. Hillmer, E. G. Y. Chew, C. L. Winata, V. Korzh, S. Mathavan, P. Sarda, S. Davila, V. Cacheux. 3048F 614kb Duplication at chromosome 9q22.32 encompassing PTCH1 gene in a family with reciprocal translocation (9;20)(q22;q13) and intrafamilial phenotypic variability. C. Vinkler, D. Lev, A. Singer, A. Frumkin, M. Davidovich, M. Michelson, Y. Michaeli-Yossef. 3049W Case report: A boy with 49, XXXXY syndrome, diagnosed by karyotype and a characteristic phenotype. A. Zarante, J. C. Prieto, O. Moreno. 3050F 6p25 Interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder. M. Bozza, L. Bernardini, A. Novelli, P. Brovedani, E. Moretti, R. Canapicchi, V. Doccini, T. Filippi, A. Battaglia. 3051W Microdeletion of 19p13.3 in a girl with Peutz- Jeghers syndrome, intellectual disability, hypotonia, and dysmorphic features. Y. Kuroda, T. Saito, J. Nagai, K. Ida, T. Naruto, M. Masuno, K. Kurosawa. 3052F Maternal mosaicism for deletion of 22q13.3 resulting in siblings with Phelan-McDermid syndrome. K. Phelan, B. R. DuPont, R. C. Rogers. 3053W De novo interstitial deletion of 3q22.1-q22.3 in two patients: A new microdeletion syndrome. Y. Wilnai, W. Wilson, C. Jett, M. Manning. POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

240 238 POSTER SESSIONS 3054F Chromosomal microarray analysis of individuals with autism or learning deficits presenting for genetic services. J. Roberts, J. Hayes, N. Dzidic, K. Hovanes, M. Dasouki, M. G. Butler. 3055W A Wolf Hirschhorn-like phenotype in a patient with a de novo 6q26-q27 deletion and 20p13-p12.1 duplication. F. Faucz, H. Salomão, R. B. de Alexandre, A. Bonalumi, J. Souza, J. A. Rosenfeld, S. Raskin, V. S. Sotomaior. 3056F Submicroscopic chromosomal rearrangements in patients with an Angelman syndrome-like phenotype. K. Hosoki, T. Ohta, N. Niikawa, S. Saitoh. 3057W Twenty-two year follow-up of identical twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them. Y. Lacassie. 3058F 12p microrna expression in fibroblast cell lines from probands with Pallister-Killian syndrome. K. Izumi, Z. Zhang, M. Kaur, I. Krantz. 3059W Genetics of precocious puberty: A proband with Klinefelter syndrome, maternal uniparental disomy 14 and precocious puberty. K. Reddy, H. Bass, J. Keni. 3060F Molecular genetic testing of recurrent anencephaly in a family without partial trisomy 2p22- pter. C. Sergi, J. Gekas, D. Kamnasaran. 3061W Urethrocystoscopy, diagnostic laparoscopy, versus testicular descent gonadectomy in a patient with ambiguous genitalia: A case report. F. Cuellar- López, J. M. Aparicio, l. de la Torre. 3062F Congenital association VACTERL at the Hospital para el Nino Poblano, Mexico: Fourteen case reports. A. Garcia-Guzman, J. M. Aparicio-Rodriguez. 3063W Orthodontic correction in malformated unilateral teeth structure in a patient with pseudoachondroplasia: A case report. S. Ochoa, J. M. Aparicio, D. D. A. Camarillo, S. S. Cabrera. 3064F Hearing loss frequency in a pediatric patient group at a third level hospital. A. Romero, J. M. Aparicio, L. P. C. Gallegos. 3065W Diagnostic exome sequencing reveals a de novo mutation in the DYNC1H1 gene in a sporadic case of developmental delay, seizures, and polymicrogyria. K. D. Gonzalez, J. Wei, X. Li, H. M. Lu, H. Lu, J. S. Cohen, R. McClellan, S. Naidu, W. Zeng. 3066F Congenital poikiloderma, fatty infiltration of muscles and pulmonary fibrosis: A new syndrome. S. Mercier, S. Kury, J. M. Mussini, A. Magot, B. Isidor, S. Barbarot, A. David, S. Bezieau. 3067W Prenatal diagnosis of a fetus with a rare association of a multiple heart and renal malformations: Case report. M. Dumitrescu, D. F. Albu, C. C. Albu, A. Oncescu, E. Severin. 3068F Complex chromosomal translocation leading to a dual diagnosis of Prader-Willi syndrome and Cri-duchat in a 14- year-old boy illustrating the importance of re-evaluation in an individual with atypical Prader-Willi phenotype. J. A. Gold, S. Ramanathan. 3069W Molecular characterization of SHOX gene and regulatory regions in patients with idiopathic short stature from three medical centers in of Bogota, Colombia. T. Vinasco, G. Jaimes, M. Coll, C. Cespedes, H. Velasco. 3070F Clinical and molecular characterization of non-syndromic craniosynostosis: An international consortium approach. M. L. Cunningham, P. A. Romitti, C. M. Justice, A. F. Wilson, T. Roscioli, E. Oláh, B. Bessenyei, M. R. Passos-Bueno, B. Wollnik, A. O. M. Wilkie, S. A. Boyadjiev Boyd, International Craniosynostosis Consortium. 3071W Molecular prenatal diagnosis of a sporadic alobar holoprosencephalic fetus: Genotype-phenotype correlations. J. Gekas, C. Sergi, D. Kamnasaran. 3072F Sonic Hedgehog regulatory region deletion in a patient with holoprosencephaly. L. Ribeiro-Bicudo, R. Quiezi, M. Ansari, K. Williamson, A. Richieri-Costa, D. FitzPatrick. 3073W Associated malformations among infants with radial ray deficiency. C. Stoll, B. Dott, Y. Alembik, M. P. Roth. 3074F Orofaciodigital syndrome in a group of patients who attended Operation Smile Foundation in Colombia, between 2005 and J. Martinez, I. Briceno, A. Venegas, S. Bohorquez, M. Montiel, A. Patiño, L. Arias. 3075W A new type of acrofacial dysplasia: Prenatal diagnosis and autopsy findings. K. Millar, A. Toi, S. Keating, P. Shannon, S. Unger, D. Chitayat. 3076F Development of a visit assessment tool to address birth defects and dysmorphology. O. A. Abdul-Rahman, L. Hayes, B. Loyola, D. A. Stevenson, S. Astley, C. Chambers, K. L. Jones, H. E. Hoyme, F. Waffern, J. C. Carey. 3077W A new case of craniofacial microsomia autosomal dominant associated with complete right side testicular and scrotal ectopia. J. Rojas Martínez, J. C. Prieto Rivera. 3078F A replication study of genome-wide significant rheumatoid arthritis susceptibility loci in the Pakistani population. S. F. Jalil, A. Bhatti, F. Y. Demirci, X. Wang, I. Ahmed, M. Ahmed, M. M. Barmada, J. M. Malik, P. John, M. I. Kamboh. 3079W A novel missense mutation in PARD3 is associated with class III malocclusion. T. Nikopensius, M. Kals, T. Annilo, T. Jagomägi, M. Saag, A. Metspalu. 3080F Genotype/phenotype correlation in Smith- Magenis syndrome with abnormal 17p deletions. T. Vilboux, A. C. M. Smith, S. Chandrasekharappa, C. Ciccone, J. Blancato, W. J. Introne, W. A. Gahl, M. Huizing. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

241 POSTER SESSIONS W MiR-133a and MiR-422a in human circulating monocytes are potential microrna biomarkers underlying postmenopausal osteoporosis. Y. Wang, L. Li, B. T. Moore, X. H. Peng, X. Fang, J. M. Lappe, R. R. Recker, P. Xiao. 3082F Genome-wide mosaic paternal uniparental isodisomy. J. Kalish, A. Wilkens, S. Mulchandani, E. Zackai, N. Spinner, M. Bartolomei, L. Conlin, M. Deardorff. 3083W The catalase: Influence of C-262 T polymorphism on keratoconus. S. Torabi Dalivandan, Z. Salehi, S. Saboohi, M. J. Mohammadi Fatideh, H. Yourdkhani. 3095W Detailed neurodevelopmental phenotype of a child with a 22q11.2 distal deletion. S. Mosca, L. M. Langevin, A. C. Lionel, C. R. Marshall, B. Argiropoulos, A. M. Innes, S. W. Scherer, D. Dewey, J. S. Parboosingh, F. P. Bernier. 3096F A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures. K. Selmer, E. Bryne, O. Rødningen, M. Fannemel. 3097W Genotype phenotype correlation study of 2q23.1 microdeletion syndrome and characterization of three new patients. L. Zhang, H. T. Bjornsson, D. Batista, G. Wiesner, T. Wang, A. Parikh. POSTER SESSIONS 3084F Metabolic abnormalities in Williams-Beuren syndrome patients and candidate genes. M. G. Palacios, R. Flores, V. Campuzano, M. del Campo, M. Segura-Puimedón, L. A. Perez-Jurado. 3085W Bilateral radioulnar synostosis and vertebral anomalies in a child with a 16p13.3 interstitial deletion. T. Slavin, A. Tam, K. Lee, S. Lee, W. Burkhalter. 3086F ASTN2 deletions in autism spectrum disorder and related neuropsychiatric phenotypes. M. T. Carter, A. C. Lionel, A. K. Vaags, B. A. Fernandez, W. Roberts, P. Szatmari, C. R. Marshall, S. W. Scherer. 3087W Atypical deletions of the Williams-Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. G. Merla, L. Micale, C. Fusco, B. Augello, P. Alfieri, M. C. Digilio, D. Menghini, S. Vicari. 3088F Morphogenesis of the face in Wolf-Hirschhorn syndrome: Three elucidative patients. J. Carey, A. Calhoun, P. Hammond, A. Lortz, S. South. 3089W Growth hormone receptor gene polymorphism and Prader-Willi syndrome. M. G. Butler, J. Roberts, J. Hayes, X. Tan, A. Manzardo. 3090F Molecular characterization and genotype/ phenotype correlation of ten patients with structural rearrangements in the NIPBL gene. Y.-W. Cheng, C. Tan, K. Arndt, S. Das, D. del Gaudio. 3091W TSC2-PKD1 contiguous deletion syndrome with aortic stenosis and severe myopia. K. Enomoto, Y. Sugawara, M. Hotate, Y. Motoyoshi, Y. Hatai, S. Mizutani, K. Kurosawa. 3092F Jacobsen syndrome: Cognitive-behavioral profiles, developmental trajectories, and IQ related to deletion size. G. Fisch. 3093W Concurrent deletion of BMP4 and OTX2 genes: Clinical evidence of synergistic effect of the two master genes in ophthalmogenesis. R. Kosaki, T. Takenouchi, C. Torii, S. Nishina, K. Kosaki. 3094F Interstitial deletion of 3.8 Mb in chromosome 6q25.2-6q25.3 in a patient with Coffin-Siris syndrome. S. Mizuno, E. Nishi, Y. Muramatsu, M. Tominaga, K. Kurosawa. 3098F Polycystic kidney disease and a 2.5Mb duplication on chromosome 3p22.1. K. Dahan, M. Madhoun, M. Gilliaux, V. Benoit, B. Grisart. 3099W Subtelomeric deletion including the WHSC1 gene located in the critical region of the Wolf- Hirschhorn syndrome. A. L. S. Ludmila Serafim, J. M. Pina Neto, l. F. Mazzucatto. 3100F Atypical form of osteopathia striata with cranial sclerosis and increased mineral density in an adolescent female with mosaic chromosome 2 rearrangement. R. Mendoza-Londono, A. Howard, E. Sochett, L. Dupius, D. J. Stavropoulos, R. C. C. Wong, S. Robertson, A. M. Joseph-George. 3101W Further evidence of the role of HOXA genes in anatomical development. P. A. Mowery-Rushton, R. A. Schultz, J. B. Ravnan, J. E. Burton, J. Kussmann, J. A. Rosenfeld, B. C. Ballif, L. G. Shaffer. 3102F 4p16.3 Deletion limited to WHSCR2. N. Okamoto, K. Shimojima, T. Yamamoto. 3103W Array CGH in 190 Korean patients with developmental delay and/or intellectual disability: A single tertiary care university center study. Y. Sohn, C. Lee, S. Park, J. Yun, E. Jung, H. Kim, S. Yim. 3104F Diagnostic investigation in Rwandan patients with MR/MCA. A. Uwineza, J. Hitayezu, L. Mutesa. 3105W Clinical features and genomic characterization of two subjects with a pure duplication of 9q34. H. Yoshihashi, M. Ikegami, C. Torii, K. Kosaki. 3106F Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2. S. Chenier, A. Noor, L. Dupuis, D. J. Stavropoulos, R. Mendoza-Londono. 3107W Keratoconus associated with Williams-Beuren syndrome: New case report. M. C. Frasson, M. M. Viana, L. L. Leao, M. Stofanko, H. Goncalves-Dornelas, P. S. Cunha, M. J. B. Aguiar. 3108F Minimal interstitial deletion in a patient with de novo 15q24 microdeletion syndrome presenting with severe scoliosis. X. Gao, C. Johnston, S. Sparagana, C. A. Wise. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

242 240 POSTER SESSIONS 3109W Microdeletions in 9q33.3-q34.1 may constitute a contiguous gene deletion syndrome characterized by developmental delay, microcephaly, mild dysmorphisms, strabismus, and seizures of incomplete penetrance. J. A. Lee, J. K. Ehret, E. Wohlleber, S. Vogt, A. M. Zink, E. Rossier, M. Bonin, U. Grasshoff, A. Bevot, M. Mathieu-Dramard, G. Plessis, A. de Broca, S. Kanafani, B. Röthlisberger, M. Holder-Espinasse, I. Simonic, L. Willatt, P. Miny, I. Filges, J. Andrieux, H. V. Firth, A. Dufke, H. Engels. 3110F Identification and diagnosis of Williams-Beuren syndrome in a public genetic center in Brazil. M. M. Viana, M. Stofanko, P. S. Cunha, H. Goncalves-Dornelas, M. J. B. Aguiar, S. D. J. Pena. 3111W Implementation of molecular karyotyping in routine diagnostics provides new insights into the pathophysiology of Silver-Russell syndrome. S. Spengler, M. Begemann, N. Ortiz Brüchle, P. M. Kroisel, B. Oehl-Jaschkowitz, G. Raabe-Meyer, C. Spaich, P. Blümel, U. Moog, K. Zerres, T. Eggermann. 3112F Clinical, molecular cytogenetic evaluation and genotype-phenotype correlation of a patient with partial Jacobsen syndrome without thrombocytopenia caused by an 13 Mb deletion of del(11)(q24.1). J. Moon, J. Kim, J. Kim, M. Nam, S. Yoon. 3113W Triplication of 7q11.23 distal to the critical region for the Williams-Beuren syndrome. J. G. Pappas, R. D. Nass, E. Ward, I. K. Gadi. 3114F A de novo 9.0 Mb deletion at chromosome region 10q21.3-q22.3 associated with severe psychomotor delay and mild Noonan phenotype: A case report. S. Baffini, G. Scarselli, L. Castiglia, M. Vinci, S. Amata, M. Fichera, J. D. Barp, E. Gambineri, E. Chiappini, M. L. Giovannucci Uzielli. 3115W A first reported case of a microdeletion in 8q22.22q23 in Colombia: Phenotypic and genotypic correlation. P. Paez, S. Perdomo, X. Rojas. 3116F A microdeletion of about 831 kb in a young woman causes a loss of more than 30 genes on the long arm of chromosome 17 including a copy of the BRCA1 gene: Implications for genetic counseling and clinical management. P. M. Kroisel, J. B. Geigl, M. Mach, C. Pischler, E. Vallant, M. R. Speicher, K. Wagner. 3117W A familial atypical Williams-Beuren deletion encopassing ELN and part of LIMK1 gene. B. Demeer, F. M. Caron, S. Chenichene, G. Morin, A. Receveur, H. Copin, A. de Broca, O. Godefroy, D. Sanlaville, M. Mathieu, P. Saugier-Veber. 3118F 12q21 Deletion syndrome with intellectual disability and facial dysmorphism. A. Matsumoto, T. Yamagata, Y. Nozaki, E. F. Jimbo, M. Y. Momoi. 3119W Autism, mild facial dysmorphism, abnormal EEG, sleep problems and language impairment in interstitial duplication 15q11-q13 syndrome. N. Urraca, C. Cleary, E. Pivnick, K. McVicar, V. Brewer, R. Thibert, N. C. Schanen, M. C. Esmer, D. Lamport, L. T. Reiter. 3120F Mucolipidosis III gamma, tuberous sclerosis, and polycystic kidney disease caused by a contiguous gene deletion on chromosome 16p13.3. J. Barea, L. Bird. 3121W GH deficiency and epilepsy in a patient with a 19q13.3 duplication encompassing the PTH2, KCNC3 and KCNA7genes. M. Vincent, C. Jeandel, J. Puechberty, C. Coubes, F. Dallavale, F. Rivier, A. Schneider, M. Girard, N. Ruiz, M. Tournaire, I. Touitou, G. Lefort, P. Sarda, D. Genevieve. 3122F A large deletion confined to COL4A5 causes Alport syndrome and diffuse leiomyomatosis. M.J. N. Sá, R. Sousa, F. T. Costa, F. Carvalho, S. Alves, F. Carvalho, J. P. Oliveira. 3123W Genetic study of a family segregating Waardenburg-Shah syndrome. L. Cui, H. M. Wong, J. Zhu, F. de Almeida M., P. H. Tam, M.-M. Garcia-Barceló. 3124F Founder effect of spinocerebellar ataxia type 7 in a Mexican population. Y. Tapia-Guerrero, O. Hernández-Hernández, M. Maldonado-Rodríguez, C. Cerecedo-Zapata, N. Leyva, L. Velázquez-Pérez, B. Cisneros, J. J. Magaña. 3125W Study of GJB2, GJB6 and MT-RNR1 m.1555a.g in Mexican hearing loss patients. M. Arenas-Sordo, I. Menendez, E. Hernández-Zamora, A. Simarci, D. Gutierrez, P. Murphy, X. Leyva, F. Huesca, J. Dominguez- Aburto, M. Tekin. 3126F A family with an OPA1 mutation and associated hearing loss. C. Williams, H. Stalker, S. Schimpf- Linzenbold, B. Wissinger. 3127W Cerebrocostomandibular syndrome: Clinical features of three new cases and preliminary analysis of exome sequencing data. D. C. Lynch, E. Lemire, B. Chodirker, A. M. Innes, J. S. Parboosingh, F. P. Bernier, FORGE Canada Consortium. 3128F Dandy Walker malformation in a boy with Ellis-van Creveld dysplasia. J. Davis, E. Carter, P. Brill, C. Raggio. 3129W NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. J. El Hokayem, C. Huber, A. Couve, J. Aziza, G. Baujat, R. Bouvier, D. P. Cavalcanti, F. A. Collins, M. P. Cordier, A. L. Delezoide, M. Gonzales, D. Johnson, M. Le Merrer, A. Levy-Mozziconacci, P. Loget, D. Martin- Coignard, J. Martinovic, G. R. Mortier, M. J. Perez, J. Roume, G. Scarano, A. Munnich, V. Cormier-Daire. 3130F Refsum disease: Genotype-phenotype correlation of a novel PHYH mutation in a Brazilian patient. L. A. R. Gabriel, J. Chiang, R. C. C. Filho, L. G. Freitas, M. P. Avila. 3131W Description of sclerocornea in a patient with van den Ende Gupta syndrome and homozygous mutation in SCARF2. M. Migliavacca, N. Sobreira, G. Antonialli, M. Moysés, M. Melaragno, D. Valle, D. Brunoni, A. Perez. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

243 POSTER SESSIONS F Two brothers with autosomal-recessive primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene: Neonatal findings and longterm follow-up. B. Tüysüz, S. Yilmaz, K. Bilguvar, O. Kasapçopur, E. Gül, M. Günel. 3133W Germline mosaicism for a 12q24 deletion identifies haploinsufficiency of MED13L as a cause of hypotonia and moderate developmental delay. R. C. Gallagher, S. Scrivner, K. Brown, A. Collins, M. Saenz. 3134F Genetic analysis of the GBA gene in Japanese familial Parkinson s disease. Y. Li, M. Funayama, T. Sekine, L. Li, H. Yoshino, K. Nishioka, H. Tomiyama, N. Hattori. 3135W Manganese-related T1 hyperintensities of the basal ganglia in hereditary hemorrhagic telangiectasia with iron-deficiency anemia. M. McKinnon, S. Appel- Cresswell, B. Jung, S. Langlois. 3136F CASK aberrations in males with Ohtahara syndrome and cerebellar hypoplasia. H. Saitsu, M. Kato, H. Osaka, N. Moriyama, H. Horita, K. Nishiyama, T. Yoshinori, H. Doi, N. Miyake, K. Hayasaka, N. Matsumoto. 3137W Unusual presentation of combined saggitalmetopic synostosis is caused by mutations in the MSX2 gene: Expanding the phenotype of the Bostontype craniosynostosis syndrome. O. M. Vanakker, A. Janssen, M. J. Hosen, P. Jeannin, P. J. Coucke, A. De Paepe. 3138F Automated preparation of samples for benchtop sequencing applications. I. Meek. 3145W Further expansion of the Chediak- Higashi phenotype: Three adult siblings with neurodegenerative disease and homozygous for a novel LYST deletion. L. Mehta, C. Cho, F. R. Dembitzer, A. Szporn, M. C. Chicka, J. D. Wesfeld-Adams. 3146F Familial acanthosis nigricans: Phenotypic features of aberrant area cutanea and hyperpigmented dots identified by dermoscopy. N. Oiso, M. Miyake, K. Fukai, A. Kawada. 3147W Clinical clues to differentiate among severe forms of osteogenesis imperfecta. P. Prasun, A. Jay, D. Stockton. 3148F Description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability. M. Rasmussen, I. Vogel, O. B. Petersen, M. Ramsing, L. Sunde. 3149W Novel molecular changes and their associated clinical characteristics in Saudi patients with familial hemophagocytic lymphohistiocytosis. A. Al-Ahmari, O. Alsmadi, L. Elbaik, T. Elamin, B. Al-Saud, S. Al-Shambri, M. Al-Awwami, I. Al-Fawaz, M. Ayas, K. Siddiqui, M. Viqaruddin, A. Hawwari. 3150F Hip pathology in Majewski osteodysplastic primordial dwarfism type II. M. B. Bober, A. F. Karatas, A. L. Duker, K. Rogers, C. Ditro, W. G. Mackenzie. 3151W Boyadjiev-Jabs syndrome: Clinical and molecular characterization of three new patients. S. A. Boyadjiev Boyd, S. Kim, L. Bivina, E. Zackai, P. L. Crotwell, K. Õunap, J. Kim. POSTER SESSIONS 3139W Neurofibromatosis type 1 and infantile myofibromatosis: A shared genetic basis or independently co-existent entities? S. Krishnamurthi, V. Cox, H. Guo, K. Rauen. 3140F Homozygosity mapping and candidate gene cloning identified CLDN10 variation to be possibly responsible for congenital ichthyosis: Renal hypokalemia in an Algerian family. S. Hadj-Rabia, Y. Al- Sarraj, M. Kambouris, C. Bodemer, H. El-Shanti. 3141W Homozygous mutation of SIX1 associated with a severe branchio-oto-renal syndrome phenotype. S. L. Sawyer, M. A. Thomas, R. Lamont, L. Dimnik, P. Gordon, X. C. Wei, F. P. Bernier, J. S. Parboosingh, A. M. Innes. 3142F Cardiac malformations associated with germline WT1 mutations in children presenting with Wilms tumor. S. Bowdin, C. Owens, D. Malkin, N. Parkinson, M. Friedburg, R. Grant. 3143W False positive diagnosis of Marfan syndrome in adult patient with homocystinuria who fulfilled Ghent criteria. S. Dyack, H. MacDonald, K. Schindeler, A. Rideout. 3144F VCP disease is associated with cytokine imbalances in patient plasma. E. Dec, F. Zaldivar, M. Wencel, M. Khare, J. Vesa, V. E. Kimonis. 3152F Schinzel-Gideon syndrome in two Brazilian patients: Report of a novel mutation in SETBP1. E. D. F. Carvalho, M. Lazar, T. F. Almeida, C. R. D. C. Quaio, G. L. Yamamoto, K. M. Rocha, C. A. Kim, M. R. Passos-Bueno, D. R. Bertola. 3153W HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina. A. Ekici, C. Büttner, P. Strissel, P. Oppelt, S. Renner, S. Brucker, M. Beckmann, R. Strick. 3154F Establishing a paternal age effect for Crouzon syndrome with acanthosis nigricans. T. Greer, C. LaDana, P. Barros-Nunez, F. Di Rocco, C. Collet, E. W. Jabs, R. L. Glaser. 3155W Characterization of hyper-igm syndrome due to CD40 deficiency in 11 patients. A. Hawwari, H. Alassiri, Z. Al-Sum, A. Al-Ghonaium, S. Al-Muhsen, H. Al-Dhekri, R. Arnaout, O. Alsmadi, E. Borrero, A. Abu-staiteh, H. Al- Mousa, B. K. Al-Saud. 3156F New insights into the renal aspects of hypotrichosis-lymphedema-telangiectasia syndrome caused by a mutation in the SOX18 gene. S. Moalem, M. Vikkula, E. Harvey, D. Chitayat. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

244 242 POSTER SESSIONS 3157W Missense and synonymous TCF4 mutations are responsible for splicing defects in Pitt-Hopkins syndrome. M. Nasser, L. Drévillon, A. Briand-Suleau, J. Ghoumid, T. Gaillon, V. Bodereau, L. Pasquier, M. Goossens, J. Amiel, D. Héron, I. Giurgea. 3158F Clinical genetics in silico: Use of an electronic medical record in an integrated healthcare system to identify individuals with undiagnosed Noonan syndrome. M. E. Nunes, R. E. Barber, S. K. Kwok, R. R. Wilson, D. J. Levy. 3159W Detailed clinical and orofacial phenotype of three families with compound heterozygous WNT10A mutations using three-dimensional imaging methods. C. W. Ockeloen, C. Vink, S. ten Kate, C. van Heumen, T. Kleefstra, C. Carels. 3160F Tegumentary manifestations in RASopathies are common and deserve special attention. C. R. D. C. Quaio, A. S. Brasil, A. C. Pereira, C. A. Kim, D. R. Bertola. 3161W Molecular analysis and expression studies in a novel candidate gene for syndromic coloboma. N. K. Ragge, A. Wyatt, D. Robinson, D. Bunyan, D. Wong, I. Ragoussis. 3162F Variable expressivity of FREM1-related anomalies in a family with novel mutation. A. Singer, A. Slavotinek, H. Leiba, S. Josefsberg, C. Vinkler. 3163W Identification of a KRIT1 p.gln201glu mutation in a Persian family with multiple cerebral, spinal and skin cavernous malformations. S. M. Sperber, D. Fathi, M. Shahbazi, M. M. Motahari, B. Friedman, A. Haghighi. 3164F Novel 3q26 EVI1/MECOM deletion syndrome in a newborn with multiple severe congenital abnormalities and bone marrow failure. L. T. van der Veken, M. B. Bierings, M. C. Maiburg, F. Groenendaal, A. C. Bloem, N. V. Knoers, A. Buijs. 3165W KIAA 2022-related X-linked intellectual deficiency: Confirmation of a discrete entity in five patients. L. Van Maldergem, V. M. Kalscheuer, M. Doco-Fenzy, A. Medeira, A. de Brouwer, E. Landais, L. Villard, J. Dupont. 3166F Extending the phenotype spectrum of IQSEC2 mutations: Report of a patient with IQSEC2 intragenic duplication and atypical variant of Rett syndrome. M. Willems, F. Tran Mau-Them, J. Puechberty, G. Lefort, A. Schneider, I. Touitou, M. Girard, M. Tournaire, N. Ruiz- Pallares, F. Rivier, S. Drunat, P. Sarda, D. Genevieve. 3167W Mutations in TGF-beta binding domains in the FBN1 gene result in diverse connective tissue dysplasia syndromes with short stature. K. H. C. Wu, A. Baxter, J. R. Pinner, D. Mowat, T. Dudding, B. Bennetts, K. Holman, E. Ormshaw, T. Gayagay, L. C. Adès, C. L. Goff, V. Cormier-Daire, D. O. Sillence. 3168F Clinical and genetic analysis in Chinese patients with megalencephalic leukoencephalotathy with subcortical cysts. M. Guo, Y. Jiang, H. Xie, Y. Wu, J. Shang, Q. Gu, X. Wu, J. Wang. 3169W Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1. I. M. Benamor, P. Roughley, F. H. Glorieux, F. Rauch. 3170F A new dominant frontonasal dysplasia with major posterior cranial defect. S. Odent, S. Mercier, M. de Tayrac, J. Mosser, P. Loget, C. Rozel, S. Jaillard, J. Milon, L. Riffaud, G. Le Bouar, P. Poulain, E. Martin, C. Dubourg, V. David. 3171W Cerebrovascular changes in a patient with Noonan syndrome and a RAF1 mutation. Y. Zarate, A. Lichty, G. Matheus, K. Champion, K. Clarkson, K. Holden. 3172F EFTUD2 haploinsufficiency leads to syndromic esophageal atresia. J. Amiel, C. Gordon, M. Oufadem, C. Decaestecker, A.-S. Jourdain, J. Andrieux, V. Malan, J.-L. Alessandri, C. Baumann, O. Boute-Benejean, B. Delobel, D. Lacombe, S. Mehta, I. Simonic, F. Escande, N. Porchet, S. Manouvrier-Hanu, F. Petit, A. Munnich, M. Vekemans, S. Lyonnet, L. de Pontual, M. Holder-Espinasse. 3173W Al-Awadi/Raas-Rothshild/Schinzel-Fuhrman spectrum phenotypes in patients with no mutations in WNT7A. O. Caluseriu, E. Sherridan, K. M. Girisha, J. Parboosingh, A. M. Innes, F. P. Bernier. 3174F A long polyphenilalanine repeats expansion in the RUNX2 gene in a patient with cleidocranial dysplasia. M. Michelson-Kerman, E. Leshinsky-Silver, D. Lev, A. Singer, C. Vinkler. 3175W Novel mutation in the ADAMTSL4 gene in a child with bilateral ectopia lentis and aortic root dilatation: Expandingthe phenotype? R. L. Sanchez, Z. Ammous, P. Jayakar. 3176F Mutations in DMD gene identified during clinical evaluation of patients with autism and/or global developmental delay. J. Moeschler, S. Upton, J. Ozmore. 3177W Copy number variants in monozygotic twins with neurofibromatosis 1. E. Schorry, E. Sites, D. Viskochil, D. Stevenson, N. Ullrich, T. Smolarek, L. Martin. 3178F A novel synonymous mutation causing aberrant splicing on the SLC26A4 gene in a Korean patient with a hearing loss. Y. Kim, J. Kim, J. Y. Choi, K.-A. Lee. 3179W Overlapping anophthalmia syndromes: SOX2, the new kid on the block. A. Schneider, T. Bardakjian. 3180F Distinct clinical and neurological features in a Korean boy with Schinzel - Giedion syndrome caused by a de novo SETBP1 mutation. J. M. Ko, B. C. Lim, K. J. Kim, Y. S. Hwang, C. H. Chae. 3181W Crisponi syndrome in a Turkish newborn: A possible founder mutation in the CRLF1 gene? V. Benoit, P. Hilbert, M. Deprez, A. Charon, I. Maystadt, S. Moortgat. 3182F Interference with IS-PCR assays for Inv22 testing of hemophilia A. T. Lewis, G. Pont-Kingdon, Y. Louie, J. Swenson. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

245 POSTER SESSIONS W Complex ear abnormalities, choanal atresia, coloboma and renal hypoplasia in a patient with mutations in CHD7 and EYA1 and microdeletion of 2q23.1. R. Badilla-Porras, L. Dupuis, T. Stockley, D. J. Stavropoulos, R. Mendoza-Londono. 3184F Severe CHST3 mutations in two Brazilian families with spondyloepiphyseal dysplasia with congenital joint dislocations. W. A. R. Baratela, T. F. Almeida, G. L. Yamamoto, J. H. Marques, O. Letaif, A. C. Pereira, C. A. Kim, D. R. Bertola. 3185W Computer-aided facial recognition of individuals with FG (Opitz-Kaveggia) syndrome caused by p.arg961trp mutation in MED12. L. Basel-Vanagaite, L. Karlinsky, L. Wolf, M. Shohat, C. Skinner, C. Rogers, R. Stevenson, C. M. Schwartz, J. M. Graham, Jr. 3186F Hand abnormalities in Loeys-Dietz syndrome: Expanding the clinical spectrum. B. Chung, A. Hinek, T. Bradley, L. Grossse-Wortmann, S. Blaser, D. Chitayat. 3187W Gorlin syndrome: Three unrelated female Mexican cases. N. O. Dávalos, S. A. Alonso Barragan, I. M. Salazar- Dávalos, M. A. Aceves-Aceves, S. A. Ramirez-Garcia, L. R. Topete -Gonzalez, D. A. Fierro-Rodriguez, D. M. Prado, A. R. Rincon-Sanchez, I. P. Dávalos, D. García-Cruz. 3197W SCN1B sequence variations in Iranian patients with epilepsy, causality or susceptibility? A. Ebrahimi, M. Moghaddasi, M. Houshmand, S. Zeinali, S. H. Tonekaboni, M. S. Fallah, M. Mamarabadi. 3198F A novel KCNQ2 mutation in a Mexican-American family with benign familial neonatal convulsions. A. Sznewajs, E. Rider, E. Sherr. 3199W Coronal craniosynostosis and radial ray hypoplasia: A third report of TWIST mutation in a 33-week fetus with diaphragmatic hernia. J. Piard, C. Collet, F. Arbez-Gindre, L. Van Maldergem. 3200F Identification of a novel gene causing fetal akinesia deformation sequence. M. M. Weiss, G. Tan, M. Smit, J. I. de Vries, J. P. vd Voorn, I. Kluijt, E. Sistermans, H. Meijers-Heijboer, S. Groffen, Q. Waisfisz. 3201W Identification of a new syndrome with severe type of cutaneous photosensitivity, mild mental retardation and short stature caused by KIAA1530 (UVSSA) gene. R. Sharifi, A. Ahmadi, E. Ozkan, R. Maroofian. 3202F Infantile cerebral and cerebellar atrophy population screening using PCR-RFLP method. V. Adir, E. Shahak, E. Golinker, N. Ekhilevitch, Z. U. Borochowitz. POSTER SESSIONS 3188F Diamond-Blackfan anemia: A case report and seven-year follow up. M. G. González-Mercado, L. Bobadilla-Morales, N. O. Dávalos, D. García-Cruz, A. Corona- Rivera, C. E. Monterrubio-Ledezma, I. M. Salazar-Dávalos, A. González-Mercado, M. A. Aceves-Aceves, I. P. Dávalos. 3189W Familial Beare-Stevenson cutis gyrata syndrome in the absence of craniosynostosis. E. Leon, J. Jung, M. Ririe, D. Stevenson. 3190F Report of a novel mutation in the SLC26A2 gene found in a Colombian adult patient with diastrophic dysplasia. T. Pineda, A. Rossi, L. Bonafè, A. Superti- Furga, H. Velasco. 3191W Intragenic NSD1 duplication of exons in a patient with Sotos syndrome. S. Ramanathan, R. D. Clark. 3192F Craniosynostosis as a bone anomaly of Kabuki syndrome. A. Shimada, I. Tamada, H. Yoshihashi. 3193W The variable spectrum of SMAD4 mutations. J. van den Ende, N. Van der Aa, T. Boiy. 3194F A new frontonasal dysplasia syndrome associated with SIX2 deletion. S. L. Zimmerman, H. M. Saal, Z. M. Ahmed, R. B. Hufnagel. 3195W Importance of orofacial features and the role of dentistry in the early diagnosis of developmental disorders. Z. ncel Torun, D. Torun, K. Karaer, R. O. Rosti. 3196F Renin receptor/atp6ap2 gene mutation: An X-linked cause of mental retardation, postnatal microcephaly and intractable seizures. D. Chitayat, K. Sirewanda, R. Mendoza, S. Blaser, J. Raiman, J. Jessen, E. Donner, C. Schwartz. 3203W Genotype-phenotype correlation of enlarged vestibular aqueduct syndrome. R. Birkenhager, S. Arndt, W. Maier, A. Aschendorff, E. Löhle, R. Laszig. 3204F Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha dystroglycan using next-generation sequencing technology. J. Chae, B. Lim, J. Ko, J. Choi, M. Wo, W. Park, B. Min. 3205W Various clinical manifestations in 40 cases with type 1 neurofibromatosis. C. K. Cheon. 3206F Mutation analysis results of 5 reductase type 2 enzyme deficiency patients. H. Onay, D. Goksen, A. Aykut, F. Hazan, S. Darcan, F. Ozkinay. 3207W Griscelli syndrome with RAB 27A mutation and prenatal diagnosis. I. Panigrahi, R. Suther, B. Behera, A. Rawat, R. Marwaha. 3208F Molecular diagnosis of rare Mendelian diseases using whole exome sequencing. B. Rodríguez-Santiago, S. Boronat, J. Argente, I. Valenzuela, M. del Campo, L. A. Perez-Jurado, L. Armengol. 3209W Next-generation sequencing for low and high-bone density disorders. G. Sule, P. Campeau, S. Nagamani, B. Dawson, M. Grover, C. Bacino, J. Lu, E. Lemire, R. Gibbs, D. Cohn, V. Zhang, L. Wong, B. Lee. 3210F Molecular diagnosis of autosomal dominant polycystic kidney disease using massively parallel sequencing. Y. Tan, A. Michaeel, G. Liu, J. Blumenfield, S. Donahue, T. Parker, D. Levine, H. Rennert. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

246 244 POSTER SESSIONS 3211W Genotype-phenotype correlation in Bardet- Biedl syndrome. E. Forsythe, K. Sparks, M. S. B. Huda, J. Hazlehurst, S. Mujahid, P. Carroll, B. McGowan, J. W. Tomlinson, S. Mohammed, P. L. Beales. 3212F Photoreceptor loss in LCR-deletion associated blue cone monochromacy: Implications for gene therapy. R. B. Hufnagel, A. Dubra, R. A. Sisk, J. C. Gardner, S. Riazuddin, A. J. Hardcastle, A. T. Moore, J. Neitz, M. Michaelides, M. Neitz, J. Carroll, Z. M. Ahmed. 3213W VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia: Expanding natural history and genotypephenotype characterization. M. Khare, S. G. Mehta, R. Ramani, G. J. Watts, B. Martin, M. Simon, K. E. Osann, S. Donkervoort, E. Dec, A. Nalbandian, A. Wang, T. Mozaffar, C. D. Smith, V. E. Kimonis. 3214F A novel short stature syndrome caused by defects in glycosaminoglycan synthesis due to altered xylosyltransferase 1 activity. J. Schreml, B. Durmaz, O. Çoğ ulu, K. Keupp, F. Beleggia, E. Pohl, E. Milz, G. Nürnberg, P. Nürnberg, J. Kuhn, M. Coker, S. Kalkan Ucar, F. Özkinay, B. Wollnik. 3215W Case studies for the clinical diagnosis of rare, congenital, pediatric disorders by whole genome sequencing. S. Szelinger, V. Narayanan, H. Boman, A. F. Hahn, J. J. Corneveaux, A. L. Siniard, A. A. Kurdoglu, M. J. Huentelman, D. W. Craig. 3216F Variable phenotypic spectrum in a cohort of patients with ARID1B mutations. S. Boulanger, L. Mariage, D. Lederer, S. Moortgat, A. Destree, P. Hilbert, I. Maystadt. 3217W Whole exome sequencing in patients with intellectual disabilities. I. Madrigal, U. Liljedahl, M. I. Alvarez, O. Karlberg, L. Rodriguez-Revenga, A. Mur, A.-C. Syvänen, M. Mila. 3218F Identification of the p.a140v mutation in MECP2 gene in a family with non specific X-linked mental retardation. I. Maystadt, S. Boulanger, P. Vrielynck, S. Moortgat, A. Destree, D. Lederer. 3219W Whole exome sequencing identifies titin (TTN) mutations as a cause of centronuclear myopathy. O. Ceyhan, P. B. Agrawal, K. Schmitz, E. DeChene, K. Markianos, A. H. Beggs. 3220F Unexpected EGFR3 variants confounding achondroplasia mutation detection. A. Millson, A. F. Rope, E. Lyon. 3221W Analysis of C9orf72 repeat expansion in Japanese patients with ALS. K. Ogaki, Y. Li, N. Atsuta, H. Tomiyama, M. Funayama, H. Watanabe, R. Nakamura, H. Yoshino, S. Yato, A. Tamura, Y. Naito, A. Taniguchi, K. Fujita, Y. Izumi, R. Kaji, N. Hattori, G. Sobue, Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS). 3222F Three pycnodysostosis cases with a novel mutation in cathepsin K gene. T. Ozdemir, T. Atik, E. Karaca, H. Onay, F. Ozkinay, O. Cogulu. 3223W Application of next-generation sequencing for mutation detection in autosomal dominant polycystic kidney disease. H. C. Park, A. Kang, J. Y. Jang, Y. Hwang, H. Kim, M. Han, D. K. Kim, K. Oh, W. Park, H. I. Cheong, C. Ahn. 3224F Whole exome sequencing identifies a missense mutation in SEPT2 as a probable cause of a new autosomal dominant syndrome with distinctive face, ear anomalies, and learning disability. A. Rump, K. Hackmann, A. Dahl, A. Fischer, M. Schweiger, M. Schilhabel, A. ElSharawy, A. Franke, E. Schrock, N. Di Donato. 3225W Oculocutaneous albinism (OCA1A/B): Founder mutations in the tyrosinase gene in Colombia. O. Urtatiz, D. Sanabria, M. C. Lattig. 3226F Ophthalmologic findings in Mexican patients with myotonic dystrophy type I. P. Barojas, J. J. Magaña, G. Ortega, N. Leyva, B. Cisneros, O. Hernández-Hernández, E. Barojas. 3227W Molecular diagnosis of myotonic dystrophy type I by PCR Southern method. G.-H. Kim, J.-J. Lee, S.-H. Choi, J.-Y. Lee, J.-M. Kim, Y.-M. Kim, B. H. Lee, H.-W. Yoo. 3228F Mutations in FOXP2 cause childhood apraxia of speech: Report of a novel intragenic deletion in an Australian patient. M. S. Hildebrand, S. Turner, J. Damiano, R. J. H. Smith, M. Bahlo, I. E. Scheffer, A. T. Morgan. 3229W Exome sequencing identifies a novel MRE11 mutation in a patient with generalized myoclonic tremor. R. Miyamoto, H. Morino, H. Maruyama, Y. Izumi, R. Kaji, H. Kawakami. 3230F Pathophysiological features of dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome. T. Kosho, S. Mizumoto, M. Kobayashi, Y. Fujita, J. Nakayama, N. Miyake, Y. Nomura, A. Hatamochi, Y. Fukushima, K. Sugahara, N. Matsumoto. 3231W Rupture of chordae tendineae as an initial presentation of an haploinsufficiency mutation in COL3A1. Z. Xu, B. F. Griswold, L. J. Sloper, A. S. Shah, N. B. McDonnell. 3232F Prenatal diagnosis and identification of heterozygous frameshift mutation in PRRX1 in an infant with agnathia-otocephaly. M. Donnelly, E. Todd, M. Wheeler, V. D. Winn, D. Kamnasaran. 3233W Identification of the disease causing gene in a familial autosomal recessive form of congenital nystagmus by exome sequencing. B. Isidor, J. Albuisson, S. Bezieau. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

247 POSTER SESSIONS F Identification of X-linked RPGR ORF15 mutations in females diagnosed with autosomal dominant retinitis pigmentosa. J. D. Churchill, S. J. Bowne, L. S. Sullivan, R. A. Lewis, D. K. Wheaton, D. G. Birch, K. E. Branham, J. R. Heckenlively, S. P. Daiger. 3235W A recurrent 143 kb duplication in TSPAN7 as a possible cause of intellectual disability. J. Hoyer, M. Krumbiegel, C. Kraus, A. Reis. 3236F Alpha thalassemia /mental retardation X linked: An uncommon presentation. U. H. Kotecha, R. Puri, C. Badens, I. C. Verma. 3237W Proteolipid protein 1 gene mutation in 44 Chinese patients with Pelizaeus-Merzbacher disease and prenatal diagnosis of five fetuses in three Chinese families with PMD probands. J. Wang, D. Li, Y. Wu, H. Zhao, J. Shang, J. Qin, F. Fang, X. Wu, Y. Jiang. 3247W Twin discordance and congenital hydrocephalus. C. Lee, J. T. C. Shieh. 3248F Hallermann-Streiff Syndrome: Case report from Mongolia. P. Erkhembulgan, M. Purevdorj, T. Altansukh, I. Purevdorj. 3249W Global gene profiling identifies a novel cytoskeleton pathway involved in VCP-associated myopathy. A. Nalbandian, S. Ghimbovschi, S. Radom- Aizik, E. Hoffman, V. Kimonis. 3250F External validation of the Bartholdi clinical scoring system for Silver-Russell syndrome: A report of a Brazilian cohort. G. L. Yamamoto, A. Bonaldi, A. M. Vianna-Morgante, I. Gomy, C. A. Kim, D. R. Bertola. Evolutionary and Population Genetics POSTER SESSIONS 3238F Four years of data from the California Cystic Fibrosis Newborn Screening Program and experiences of the Sutter CF Center. M. Tsang, B. Chipps, M. Kharrazi, K. Pearson, S. O Bra. 3239W Polymicrogyria awareness is a critical first step in facilitating early diagnosis and intervention for those affected by this rare congenital brain anomaly. C. Byrge, A. Perszyk, PMG Awareness Organization, Inc. 3240F Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. A. Putoux, S. Nampoothiri, V. Cormier-Daire, N. Laurent, P. Beales, A. Schnizel, D. Bartholdi, C. Alby, S. Thomas, N. Elkhartoufi, J. Litzler, F. Encha-Razavi, R. Kannan, A. Munnich, L. Faivre, N. Boddaert, A. Rauch, M. Vekemans, T. Attie-Bitach. 3241W Goldberg-Shprintzen syndrome: KBP, the KIAA1279 encoding protein, is located to cytoskeleton, but not to mitochondria. L. Drévillon, A. Megarbane, B. Demeer, C. Matar, P. Benit, A. Briand-Suleau, J. Ghoumid, M. Nasser, V. Bodereau, M. Doco-Fenzy, P. Rustin, D. Gaillard, M. Goossens, I. Giurgea. 3242F Craniofacial and dental development in cardiofacio-cutaneous syndrome: The importance of Ras signaling homeostasis. A. Goodwin, S. Oberoi, M. Landan, C. Charles, J. Groth, A. Martinez, C. Fairley, W. E. Tidyman, L. A. Weiss, O. D. Klein, K. A. Rauen. 3243W Sotos syndrome diagnosis confirmed by acgh. F. I. Sahin, Y. K. Terzi, M. Derbent. 3244F Expanding (or narrowing) the phenotype of Beckwith-Wiedemann syndrome. E. Todd, G. Bellus. 3245W Genetic studies in VACTERL association. J. Winberg, P. Gustavsson, E. Sahlin, G. Annerén, E. Iwarsson, P.-J. Svensson, F. Bradley, E. Nordenskjöld, N. Papadogiannakis, A. Nordgren, A. Nordenskjöld. 3246F A homozygous AHI1 mutation in a Moroccan consanguineous Joubert syndrome family. L. Baala, S. Chafai Elalaoui, M. Chalon, N. Elkhartoufi, M. Mansouri, Y. Kriouele, O. Perche, S. Briault, T. Attie, A. Sefiani. 3251W Copy number differences of putative regulatory elements shape primate expression profiles. R. Iskow, O. Gokcumen, A. Abyzov, J. Malukiewicz, Q. Zhu, A. T. Sukumar, A. A. Pai, R. E. Mills, L. Habegger, D. A. Cusanovich, M. A. Rubel, G. H. Perry, M. Gerstein, A. C. Stone, Y. Gilad, C. Lee. 3252T Linkage disequilibrium, population structuring and genome-wide association studies reveal metabolism and craniofacial dysmorphology mutations in the domestic cat. L. A. Lyons, H. Alhaddad, B. Gandolfi, R. A. Grahn. 3253F Genome-wide scan for identifying selection footprints in immune related pathways. J. Molineros, S. Nath. 3254W Signatures of selection surrounding large insertions and deletions in coding regions identified between modern and Denisovan humans, as well as four other species of primates genome-wide. W. Guiblet, K. Zhao, D. Ferrer-Torres, C. T. Ruiz-Rodriguez, A. Roca, S. Massey, J. C. Martínez-Cruzado, T. Oleksyk. 3255T An optimized panel for ancestry informative markers derived from the Mexican Genome Diversity Project. J. C. Fernandez-Lopez, A. V. Contreras, M. J. Gómez-Vázquez, C. Rangel-Escareño, I. Silva-Zollezzi. 3256F A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish. M. N. Loviglio, L. Micale, M. Manzoni, C. Fusco, B. Augello, E. Migliavacca, G. Cotugno, E. Monti, G. Borsani, A. Reymond, G. Merla. 3257W Meiotic recombination hotspots in humans: Dynamics and controlling factors. L. Odenthal-Hesse, A. J. Jeffreys. 3258T The MHC linkage haplotype in the Finnish population. A. Wennerström, M. L. Lokki, MHC Disease Research Group. 3259F Fine-scale mapping of meiotic recombination in Mongolians and Koreans. T. Bleazard, Y. S. Ju, J. Sung, J. S. Seo. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

248 246 POSTER SESSIONS 3260W Heterogeneity in recombination among African populations. M. Capredon, J. Hussin, J. Quinlan, Y. Idaghdour, L. Barreiro, T. de Malliard, J. C. Grenier, E. Gbeha, P. Awadalla. 3261T Linkage disequilibrium patterns in a Brazilian population: A comparison of X chromosome STR markers with autosomal and Y chromosome STR markers. S. Oliveira, C. Mendes-Júnior, A. Trindade-Filho. 3262F Association of (CCTTT)n polymorphism in the NOS2A gene with tuberculosis in two population groups of India. M. Jena, P. Das, R. Bamezai. 3263W Purifying selection in mitochondrial proteincoding genes is highly effective in mammals and congruent with evolution of nuclear genes. S. I. Nikolaev, K. Popadin, T. Junier, M. Baranova, S. E. Antonarakis. 3264T Molecular phylogeny of an autosomal region under natural selection. V. A. Canfield, A. Berg, S. Peckins, S. Oppenheimer, K. C. Cheng. 3265F MtDNA analysis of global populations supports that major population expansions began before Neolithic time. H. Zheng, S. Yan, Z. Qin, L. Jin. 3266W Different DNA methylation of FOXP2 target genes in adult cortices of humans and chimpanzees. U. Zechner, D. Seifert, E. Schneider, N. El Hajj, B. Navarro, I. Kondova, R. E. Bontrop, O. Bartsch, T. Haaf. 3267T Skin color variation in the Orang Asli Tribes of Peninsular Malaysia. K. C. Ang, M. S. Ngu, K. P. Reid, M. S. Teh, A. S. Zamzuraida, D. X. R. Koh, A. Berg, S. Oppenheimer, S. Hood, M. M. Clyde, B. M. Md-Zain, V. A. Canfield, K. C. Cheng. 3268F Exome and RNA sequencing of French- Canadians reveals an excess of rare variants that are enriched at functionally important sites. A. Hodgkinson, F. Casals, Y. Idaghdour, J. Hussin, V. Bruat, T. de Malliard, J.-C. Grenier, J.-P. Goulet, E. Gbeha, E. Hip-Ki, S. Girard, J.-F. Spinella, V. Saillour, D. Sinnett, G. Rouleau, P. Awadalla. 3269W Evidence for selection at the BDNF Val66Met polymorphism in 1000 Genomes Project populations. C. V. Van Hout, A. G. Clark. 3270T Mobile element evolution of the Callithrix jacchus (common marmoset). M. K. Konkel, J. A. Walker, B. Ullmer, R. Hubley, A. F. A. Smit, M. A. Batzer for Marmoset Genome Sequencing and Analysis Consortium. 3271F Association of GSTT1, MI and M3 gene polymorphism with age and quantity of smoke in Northern Indian COPD patients. R. K. Shukla, S. Kant, S. Bhattacharya, B. Mittal. 3272W Polymorphic mirna genomic sequences embedded in CNV sites: A prospective screening in Brazilian admixed population sample. T. C. L. Lins, D. E. Jimenez, A. P. M. Barbosa, R. W. Pereira. 3273T Ascertainment bias in microsatellites: Impact on estimates of mutation rates. B. Li, M. Kimmel. 3274F Characterizing recent evolutionary changes on the human lineage using the high-coverage Denisovan genome. F. Racimo, M. Kircher, J. Kelso, S. Pääbo, Archaic Genome Analysis Consortium. 3275W Recurrent tissue-specific mtdna mutations are common in humans. S. M. Williams, D. C. Samuels, B. Li, Z. Song, E. Torstenson, A. Rokas, T. A. Thornton-Wells, J. H. Moore, T. M. Hughes, R. D. Hoffman, J. L. Haines, D. P. Mortlock, C. Li. 3276T Associations of human leukocyte antigen G with resistance and susceptibility to HIV-1 infection in the Pumwani Sex Worker Cohort. M. Luo, W. Turk, J. Kimani, C. Wachihi, T. Bielawny, T. Ball, F. Plummer. 3277F Alleles at the rs SNP at the 3 UTR of the MC1R gene are associated with human pigmentation by possible microrna influence. L. A. Marano, A. L. Simões, E. A. Donadi, C. T. Mendes-Junior. 3278W Targeted re-sequencing of 328 inherited disease-associated genes in a family trio and HapMap populations using the Ion AmpliSeq Inherited Disease Panel and Ion PGM semiconductor sequencing. I. Casuga, B. Kong, D. Joun, S.-M. Chen, C.-Y. Li, D. Ruff, R. Bennet, M. Shannon. 3279T Sequencing of an extended pedigree in Western chimpanzees. O. Venn, I. Turner, Z. Iqbal, I. Mathieson, N. de Groot, G. McVean. 3280F Allelic and genotypic associations of SNPs of the OCA2 and HERC2 genes with eye, hair and skin pigmentation and the presence of freckles in Brazil. E. S. Andrade, N. C. A. Fracasso, P. S. Strazza Júnior, A. L. Simões, C. T. Mendes-Junior. 3281W AKT3, ANGPTL4, enos3, and VEGFA associations with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau. N. Buroker, X.-H. Ning, Z.-N. Zhou, K. Li, W.-J. Cen, X.-F. Wu, W.-Z. Zhu, C. R. Scott, S.-H. Chen. 3282T A population genetic measure of the de novo mutation rate using identity-by-descent estimates. C. W. K. Chiang, J. Li, M. G. Ehm, M. R. Nelson, J. Novembre. 3283F Determination of PON1 and P2RY12 polymorphisms distribution in Hungary living population samples. B. Melegh, I. Janicsek, Cs. Sipeky, B. Duga, B. I. Melegh, L. Jaromi, L. Magyari, J. Bene. 3284W Mapping the genetic diversity of HLA haplotype in Asia populations. W. Y. Saw, R. T. H. Ong, C. C. Khor, N. Kato, Y. Y. Teo. 3285T Long runs of homozygosity contain a higher fraction of all genome-wide deleterious homozygotes relative to the fraction of all genome-wide nondamaging homozygotes. Z. A. Szpiech, J. Xu, T. J. Pemberton, W. Peng, S. Zöllner, N. A. Rosenberg, J. Z. Li. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

249 POSTER SESSIONS F The genetic structure of Western Balkan populations based on autosomal and haploid markers. K. Tambets, L. Kovacevic, D. Primorac, G. Lauc, A. Leskovac, Z. Jakovski, K. Drobnic, S. Kovacevic, T. Bego, E. Metspalu, D. Marjanovic, R. Villems. 3287W Analysis of TLR4 SNPs 299 and 399 in a population of full-term Wisconsin infants. D. Pillers, J. DeValk, M. Baker, S. Schrodi, S. Tokarz. 3288T Using Time to Most Recent Common Ancestor to detect selection in population samples of wholegenome sequences. H. Hunter-Zinck, A. G. Clark. 3289F Estimating inbreeding coefficients from NGS data: Impact on genotype calling and allele frequency estimation. F. G. Vieira, M. Fumagalli, A. Albrechtsen, R. Nielsen. 3290W Maternal genetic variation near PRKAA1 and EDNRA is associated with birth weight among residents of high altitude. A. W. Bigham, M. J. Wilson, V. A. Browne, C. G. Julian, E. Vargas, C. Rodriquez, M. D. Shriver, L. G. Moore. 3300T Characterizing the adaptation to high altitude in Tibetans. E. Huerta-Sanchez, X. Jin, B. Peter, Y. Liang, M. He, X. Yi, A. Asan, Y. Shan, P. Ni, J. Wang, R. Nielsen, J. Wang. 3301F Recent positive selection of HLA-DPB1*04:01 in Japanese population. M. Kawashima, J. Ohashi, N. Nishida, K. Tokunaga. 3302W Haplotype signatures of negative selection. D. Ortega Del Vecchyo, J. Novembre. 3303T Genome-wide signatures of natural selection in diverse African populations. L. B. Scheinfeldt, S. Soi, C. Lambert, D. Hu, A. Coulibaly, H. Hutton, C. Elbers, W. Ko, W. Beggs, A. Ranciaro, S. Thompson, J. Hirbo, J. Bodo, O. Doumbo, M. Ibrahim, A. Froment, G. Lema, T. Nyambo, S. Omar, C. Wambebe, D. Meskel, G. Belay, S. A. Tishkoff. 3304F Contrasting selective forces shaping the type-ii C-type lectin receptor family. H. Quach, S. Fornarino, G. Laval, L. Quintana-Murci. 3305W Balancing selection in the human genome. M. DeGiorgio, K. E. Lohmueller, R. Nielsen. POSTER SESSIONS 3291T Selective turnover in human regulatory regions: Out with the old, in with the new. L. D. Ward, M. Kellis, ENCODE Project Consortium. 3292F Signs of high populational differentiation on the major histocompatibility complex region on Native South American populations. K. Nunes, E. J. M. Santos, J. F. Guerreiro, D. Meyer. 3293W High diversity of ADH1B gene among the Tibetans. L. Kang, L. Yan, K. Hu, F. Chen, H. Li. 3294T Natural selection increases mutational robustness in complex diseases: Mendelian evidence from early versus late onset common diseases. B. E. Baysal. 3295F Evolutionary role of the human skull: comparing neutral and selective markers. D. V. Bernardo, T. F. Almeida. 3296W Characterization of human-specific duplicated neural genes suggests a model of functional antagonism. M. Y. Dennis, F. Antonacci, C. Golzio, J. Huddleston, T. A. Graves, P. H. Sudmant, D. W. Raible, N. Katsanis, R. K. Wilson, E. E. Eichler. 3297T A genetic mechanism for Tibetan high-altitude adaptation. C. D. Huff, F. R. Lorenzo, M. Myllymäki, S. Swierczek, M. E. Salama, G. L. Semenza, V. Gordeuk, J. Xing, T. S. Simonson, L. B. Jorde, P. Koivunen, J. T. Prchal. 3298F Selection and migration in spatially structured populations. I. Mathieson, G. McVean. 3299W Evidence of recent positive selection in Africans at known and novel BMI loci. T. Edwards, G. J. Papanicolaou, K. North, D. R. Velez Edwards, African American BMI Consortium. 3306T Reproduction and immunity-driven natural selection in the hominid WFDC locus. Z. Ferreira, S. Seixas, A. Andres, W. Kretzschmar, J. Mullikin, W. Swanson, M. K. Gonder, S. Tishkoff, A. Stone, A. G. Clark, E. Green, B. Hurle, NIH Intramural Sequencing Center. 3307F Identification of hypoxia-tolerance regions in high-altitude populations. R. Ronen, N. Udpa, D. Zhou, T. Stobdan, O. Appenzeller, K. Frazer, J. Liang, Y. Li, V. Bafna, G. Haddad. 3308W Positive selection on base excision repair pathway in Yoruba and British populations. M. Wang, R. Li, Y. He, L. Jin. 3309T Expression quantitative trait loci are adaptive to multiple environmental factors. K. Ye, Z. Gu. 3310F Balancing selection on a non-coding region with regulatory function. Q. Zhu, O. Gokcumen, L. Mulder, R. Iskow, C. Austermann, M. Steward, C. Scharer, T. Raj, J. Boss, S. Sunyaev, A. Price, B. Stranger, V. Simon, C. Lee. 3311W Characterizing selection signatures associated with high-altitude adaptation in Tibetans. A. Ferrer Admetlla, Y. Wang, B. Peter, N. Vinckenbosch, E. Sanchez- Huerta, X. Jin, A. Asan, J. Wang, J. Wang, R. Nielsen. 3312T Detecting population structure and genetic differentiation from high-throughput re-sequencing data. M. Fumagalli, T. Korneliussen, T. Linderoth, F. Vieira, A. Albrechtsen, R. Nielsen. 3313F Different haplotypes in East Asia and Europe both show positive selection in 1q24. C. Heffelfinger, A. J. Pakstis, W. C. Speed, M. P. Snyder, K. K. Kidd. 3314W Early origins of Southeast Asian ovalocytosis during the Austronesian expansion. J. A. Wilder, A. M. Paquette, M. K. Thompson. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

250 248 POSTER SESSIONS 3315T Local genome diversity studies in Puerto Rico: Uncovering distribution of ancestry proportions and disease allele frequencies across the island. Y. M. Afanador, I. Rivera, E. P. Tascón-Peñaranda, J. L. Rodriguez-Florez, C. A. Winkler, A. V. Washington, E. Suárez, J. C. Martinez-Cruzado, T. K. Oleksyk, Local Genome Diversity Studies Consortium. 3316F Indian genome architecture reveals high diversity and suggests ancient African ancestry. S. Kumar, R. Singh, N. Banerjee, H. Gowda, M. Kramer, S. Kamalakaran, V. Varadan, A. Janevski, B. Muthusamy, B. Chakrabarti, S. M. Srikanth, S. Keerthikumar, T. S. Keshava Prasad, S. Vivekandandan, V. Makkapati, A. Panigrahi, P. Kumar, P. van Hooft, E. Ghiban, L. Gelley, S. Muller, G. Atwal, W. R. McCombie, A. Pandey, A. Chakravarti, N. Dimitrova. 3317W Genetic evidence of paleolithic colonization and neolithic expansion of modern humans on the Tibetan Plateau. B. Su, X. Qi, C. Cui, Y. Peng, X. Zhang, Z. Yang, H. Zhong, H. Zhang, K. Xiang, X. Cao, Y. Wang, O. Ouzhuluobu, B. Basang, C. Ciwangsangbu, B. Bianba, G. Gonggalanzi, T. Wu, H. Chen, H. Shi. 3318T Genomic ancestry and structure of the African- European admixed population of the Cape Verde Islands. S. Beleza, N. A. Johnson, S. I. Candille, D. M. Absher, I. I. Araújo, A. Correia e. Silva, M. D. Shriver, J. Rocha, G. S. Barsh, H. Tang. 3319F Mitochondrial DNA in Myanmar: Complete mitochondrial genome sequencing revealed several new lineages within macro-haplogroup M. J. Horst, M. Summerer, G. Erhart, D. Horst, B. Horst, S. Sanguansermsri, A. Manhart, F. Kronenberg, A. Kloss- Brandstätter. 3320W Asian expansion of modern human out of Africa. H. Li. 3321T Using Y-chromosome haplotypes to improve inferred ancestral origins in European populations. N. Myres, P. Underhill, R. King, J. Byrnes, K. Noto, S. Woodward, N. Angerhofer, C. Ball, K. Chahine. 3322F Ethiopian genome project. L. Pagani, T. Kivisild, A. Tarekegn, R. Ekong, C. Plaster, I. Gallego Romero, T. Oljira, E. Mekonnen, Q. Ayub, S. Q. Mehdi, M. G. Thomas, D. Luiselli, E. Bekele, N. Bradman, D. J. Balding, C. Tyler-Smith. 3323W Analysis of whole mitochondrial genomes from Iñupiat populations of the Alaskan North Slope. J. Raff, M. Rzhetskaya, J. Tackney, M. G. Hayes. 3324T Genetic ancestrality estimative for Brasilia population using CODIS autosomal markers. A. E. Svidzinski, G. C. Dalton, R. C. Toledo, A. C. Arcanjo, S. F. Oliveira. 3325F The population genetics of native Peruvian populations: Evolutionary inferences and biomedical implications. E. Tarazona-Santos, L. Pereira, M. Scliar, R. Zamudio, G. B. Soares-Souza, L. W. Zuccherato, M. Gouveia, F. Soares, F. Kehdy, W. C. S. Magalhaes, M. R. Rodrigues, E. Hollox, S. J. Chanock, R. H. Gilman. 3326W Coalescent inference of evolutionary parameters using serially sampled genomic sequence data: Theory and applications in human population genetics. D. A. Vasco, M. Kato, Z. Ye, D. Lee, T. Carter, S. J. Hebbring, A. Rodrgio, S. Schrodi, S. Lin. 3327T Ancestry perception bias in Latin American admixed populations. K. Adhikari, A. Ruiz-Linares, G. Bedoya, C. Bortolini, S. Canizales, C. Gallo, S. Gibbon, R. Gonzalez, F. Rothhammer, CANDELA Consortium. 3328F OriginMiner : Show me your genes and I ll tell you where you come from. M. de Tayrac, M. C. Babron, E. Génin. 3329W Genetic ancestry and admixture analysis in a Bermudian population reveals evidence of Native American origins consistent with oral histories and genealogies. J. B. Gaieski, E. Elhaik, A. C. Owings, M. G. Vilar, A. T. Walia, D. F. Gaieski, R. S. Wells, T. G. Schurr, The Genographic Consortium. 3330T The MHC and HLA alleleic diversity of the 1000 Genome samples. P. Gourraud, N. Cereb, P. KhanKhanian, M. Maiers, S. Yang, R. Dunivin, M. Feolo, J. Rioux, S. Hauser, J. Oksenberg. 3331F Identification of sickle cell disease alleles in the Eastern Caribbean population. C. Logronio, M. Graham, K. Wiitala, P. Gibbons, E. Bashover, C. Headland, I. McIntosh. 3332W Khoesan genomic signatures in contemporary populations from Southern Africa. D. C. Petersen, O. Libiger, R. Hardie, L. I. Hannick, R. Wilkinson, R. H. Glashoff, M. Mukerji, P. Fernandez, N. J. Schork, V. M. Hayes, Indian Genome Variation Consortium. 3333T Complete mitochondrial DNA genome sequences from the first New Zealanders: Ancient DNA and the settlement of East Polynesia. E. A. Matisoo- Smith, M. Knapp, S. Prost, K. A. Horsburgh, J. Stanton, H. Buckley. 3334F A panel of ancestry informative markers for estimating and correcting potential effects of population stratification in Han Chinese. P. Qin, W. Jin, D. Lu, H. Lou, J. Wang, H. Xu, L. Jin, S. Xu. 3335W Genomic demographics of the genetically isolated Amish populations of Ohio and Indiana. L. N. D Aoust, A. C. Cummings, L. Jiang, R. Laux, D. Fuzzell, L. Caywood, L. Reinhart-Mercer, M. Courtenay, W. K. Scott, M. A. Pericak-Vance, J. L. Haines. 3336T Jethro s descendants: A journey of 1000 years. E. Friedman, J. Zidan, D. Ben Avraham, T. Maray, G. Atzmon. 3337F Overview of the genetic variations in the Y chromosome in the Japanese population. Y. Sato, T. Shinka, A. Yamauchi, Y. Nakahori. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

251 POSTER SESSIONS W Genome-wide SNP variation in sub-saharan Africa is influenced by cultural and ethno-linguistic affiliation. S. Soi, L. Scheinfeldt, C. Lambert, J. Hirbo, A. Ranciaro, S. Thompson, J.-M. Bodo, M. Ibrahim, G. Lema, T. Nyambo, S. Omar, C. Wambebe, D. Meskel, G. Belay, A. Froment, S. A. Tishkoff. 3339T Positive natural selection and recent evolutionary history in Malays. X. Liu, R. T. H. Ong, L. P. Wong, W. T. Poh, N. E. Pillai, C. C. Khor, Y. Y. Teo. 3340F Genetic evidence of multiple non-asian migrations into the New World. N. Angerhofer, S. Woodward, N. Myres, T. Steele, A. Nelson, U. A. Perego, K. Chahine. 3341W The CARTaGENE Genomics Project : Population genetics analysis of the founding population of Quebec. P. Awadalla, J. Hussin, Y. Idaghdour, A. Hodgkinson, J.-P. Goulet, J.-C. Grenier, T. de Malliard, V. Bruat, E. Gbeha, M. Capredon, E. Hip-Ki, Y. Payette, C. Boileau. 3342T The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Characterizing ancestry of the GERA cohort using genome-wide data. Y. Banda, M. Kvale, T. Hoffmann, S. Hesselson, H. Tang, C. Sabatti, D. Ranatunga, C. Schaefer, P. Kwok, N. Risch. 3343F Population diversity and history of the Indian subcontinent: Uncovering the deeper mosaic of substructuring and the intricate network of dispersals. A. Basu, N. Sarkar Roy, P. P. Majumder. 3344W Mitochondrial origins of the Cape Coloureds of South Africa. K. G. Beaty, D. L. Phillips, M. Henneberg, M. H. Crawford. 3345T North African Jewish and non-jewish populations form distinctive, orthogonal clusters. C. Campbell, P. F. Palamara, M. Dubrovsky, L. R. Botigué, M. Fellous, G. Atzmon, C. Oddoux, A. Pearlman, L. Hao, B. Henn, E. Burns, C. Bustamante, D. Comas, E. Friedman, I. Pe er, H. Ostrer. 3346F Hyper-sharing individuals in founder populations: Theory and implications to imputation strategies. S. Carmi, P. Palamara, V. Vacic, T. Lencz, A. Darvasi, I. Pe er. 3347W Analytical inference of human demographic history using multiple individual genome sequences. H. Chen, D. Reich. 3348T Predicting the geographic origin of individuals using genome-wide SNP data. D. J. M. Crouch, M. E. Weale. 3349F Y chromosome J haplogroups trace post glacial period expansion from Turkey and Caucasus into the Middle East. B. Douaihy, D. Platt, M. Haber, A. Salloum, F. Mouzaya, M. Bou Dagher-Kharrat, G. Khazen, E. Matisoo- Smith, R. S. Wells, C. T. Smith, P. Zalloua, Genographic Consortium. 3350W Genotyping at the DAT1 locus: Determination of VNTR allele frequencies in descendents of the founding families of Southwest Louisiana. J. Drost, A. Figueroa, J. Angle. 3351T A two-sex model for the admixture history of a hybrid population. A. Goldberg, P. Verdu, N. A. Rosenberg. 3352F Admixed human genomes reveal complex migration patterns from the early spread of modern humans to the 21st century. S. Gravel, J. M. Kidd, J. K. Byrnes, A. Moreno-Estrada, F. Zakharia, S. Musharoff, F. M. De La Vega, C. D. Bustamante. 3353W Quantitative characterization of the ancestry of the Estonian population. T. Haller, L. Leitsalu-Moynihan, P. C. Ng, K. Fischer, T. Esko, K. Läll, A. Metspalu. 3354T Demographic inference and whole genome scan for natural selection in Biaka pygmies from Central Africa. P. H. Hsieh, K. R. Veeramah, J. D. Wall, R. N. Gutenkunst, M. F. Hammer. 3355F Analysis of contributions of archaic genome and their functions in modern non-africans. Y. Hu, Q. Ding, Y. Wang, H. Zheng, L. Jin. 3356W Anisotropic isolation by distance: The main orientations of human genetic differentiation. F. Jay, P. Sjödin, M. Jakobsson, M. G. B. Blum. 3357T On the use of deterministic functions for deriving approximate coalescent distributions. E. Jewett, N. Rosenberg. 3358F Exploring population admixture dynamics using empirical and simulated genome-wide distribution of ancestral chromosomal segments. W. Jin, S. Wang, L. Jin, S. Xu. 3359W Population history and Y-chromsome diversity of the Poqomchi Maya of Eastern Guatemala. S. Johnson, A. Justice, M. Crawford. 3360T Local ancestry inference in the Thousand Genomes Project admixed populations. E. E. Kenny, B. Maples, C. Churchhouse, A. Gupta Hinch, A. Williams, Y. Baran, S. Gravel, A. Moreno Estrada, C. Gignoux, F. Zakharia, A. W. Bigham, M. D. Shriver, A. Ruiz-Linares, G. Bedoya, T. K. Oleksyk, J. Dutil, J. C. Martinez-Cruzado, E. Gonzalez Burchard, S. Myers, E. Halperin, J. Marchini, C. D. Bustamante, 1000 Genomes Consortium. 3361F A likelihood ratio test for sex-bias and its application to whole-genome sequencing data of a set of globally-distributed populations. S. Musharoff, J. M. Kidd, B. M. Henn, S. Gravel, B. Maples, K. Eilertson, M. C. Yee, H. M. Cann, G. Euskirchen, M. Snyder, C. D. Bustamante, S. Ramachandran. 3362W Population structure and genetic diversity in Argentinean populations. M. Muzzio, J. M. B. Motti, E. Kenny, L. S. Jurado-Medina, M. C. Yee, J. Beltramo, R. Santos, T. Cooke, V. Ramallo, M. Schawb, O. Cornejo, G. Bailliet, C. M. Bravi, C. D. Bustamante. POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

252 250 POSTER SESSIONS 3363T Rediscovering the people who greeted Columbus through mtdna sequence analysis. M. A. Nieves-Colon, E. P. Tascón-Peñaranda, M. Diaz-Matallana, I. Carrero-Gonzalez, F. Curbelo-Canabal, J. Galanther, M. L. Perez-Quiñones, H. J. Diaz-Zabala, C. Eng, O. R. Wever, F. Mercedes de la Cruz, A. Alvarez-Serrano, E. G. Burchard, J. C. Martínez-Cruzado. 3364F Continent-wide decoupling of Y-chromosomal genetic variation from language and geography in native South Americans. M. Nothnagel, L. Roewer, L. Gusmao, V. Gomes, M. Gonzalez, D. Corach, A. Sala, E. Alechine, T. Palha, N. Santos, A. Ribeiro-dos-Santos, M. Geppert, S. Willuweit, M. Nagy, S. Zweynert, M. Baeta, C. Nunez, B. Martinez-Jarreta, F. Gonzalez-Andrade, E. Fagundes de Carvalho, D. Aparecida da Silva, J. J. Builes, D. Turbon, A. M. Lopez Parra, E. Eduardo Arroyo-Pardo, U. Toscanini, L. Borjas, C. Barletta, S. Santos, M. Krawczak. 3365W Using haplotypes to infer ancestral origins for recently admixed individuals. K. Noto, J. K. Byrnes, N. Myres, N. Angerhofer, S. R. Woodward, C. A. Ball, K. Chahine. 3366T Haplotype sharing distributions for fine-scale demographic reconstruction. P. Palamara, T. Lencz, A. Darvasi, I. Pe er. 3367F Inference of population splits and mixtures from genome-wide allele frequency data. J. K. Pickrell, J. K. Pritchard. 3368W Inferring Y chromosome phylogeny by sequencing diverse populations. G. D. Poznik, P. A. Underhill, B. M. Henn, M. C. Yee, E. Sliwerska, G. M. Euskirchen, L. Quintana-Murci, E. Patin, M. Snyder, J. M. Kidd, C. D. Bustamante. 3369T Towards understanding the population substructure and ancestry in Kuwaiti population. R. Rajagopalan, O. Alsmadi, F. Alkayal, G. Thareja, S. John, P. Hebbar, A. Thangavel. 3370F The evolutionary history of mutations associated with leukemia. S. Ramachandran, M. Kantesaria, A. Walia, J. Yang. 3371W Identification of regions under selection in the Gullah African American population. P. S. Ramos, S. Sajuthi, Y. Huang, J. Divers, K. M. Kaufman, J. B. Harley, R. P. Kimberly, D. L. Kamen, C. D. Langefeld, M. M. Sale, W. T. Garvey, G. S. Gilkeson. 3372T A genome-wide map of Neandertal ancestry in modern humans. S. Sankararaman, N. Patterson, S. Mallick, S. Pääbo, D. Reich. 3373F Genetic diversity and migration history of indigenous populations from the Central Valley of Mexico. T. Schurr, M. Vilar, R. Gomez, H. Zillges, A. Sanders, A. Owings, J. Gaieski, The Genographic Consortium. 3374W Unexpected relationships and inbreeding in HapMap phase III populations. E. Stevens, J. Baugher, M. Shirley, L. Frelin, J. Pevsner. 3375T Class I MHC region genetic markers have different dinamics than neutral genomic regions in Brazilian populations. R. C. P. Toledo, A. C. Arcanjo, C. T. Mendes-Júnior, E. C. Castelli, J. A. Peña, R. V. Andrade, M. N. Klautau-Guimarães, S. F. Oliveira. 3376F Coalescence-based estimation of population history in the presence of admixture from genetic variation data. M. Tsai, G. Blelloch, R. Ravi, R. Schwartz. 3377W The GenoChip: A new tool for genetic anthropology. S. Wells, E. Greenspan, S. Staats, T. Krahn, C. Tyler-Smith, Y. Xue, S. Tofanelli, P. Francalacci, F. Cucca, L. Pagani, L. Jin, H. Li, T. G. Schurr, J. B. Gaieski, C. Melendez, M. G. Vilar, A. C. Owings, R. Gomez, R. Fujita, F. Santos, D. Comas, O. Balanovsky, E. Balanovska, P. Zalloua, H. Soodyall, R. Pitchappan, G. Arun Kumar, M. F. Hammer, B. Greenspan, E. Elhaik. 3378T Genetic, genomic and penotypic characterization of Qinghai Mongolians. J. Xing, U. Tanna, T. S. Simonson, W. S. Watkins, D. J. Witherspoon, W. Wu, G. Qing, C. D. Huff, L. B. Jorde, R. L. Ge. 3379F Paleolithic human migrations in East Eurasia by sequencing Y chromosomes. S. Yan, C. C. Wang, L. Jin. 3380W Reconstructing the history of Indigenous American populations from the Thousand Genomes Project admixed populations of the Americas. F. Zakharia, M. Muzzio, K. Sandoval, A. Moreno-Estrada, S. Gravel, J. Byrnes, C. R. Guignoux, J. L. Rodriguez-Flores, B. Maples, W. Guiblet, J. Dutil, E. E. Kenny, A. W. Bigham, M. D. Shriver, 1000 Genomes Consortium, A. Ruiz-Linares, T. K. Oleksyk, J. C. Martinez-Cruzado, E. Gonzalez Burchard, C. D. Bustamante. 3381T The genetic aspect of the Slavic settlement in the East Alps region. A. Zupan, K. Vrabec, T. Dovč ; drnovšek, D. Glavač. 3382F Principal component analysis produces an inaccurate representation of population structure under certain conditions. J. Bentham, D. L. Morris, D. S. Cunninghame Graham, C. L. Pinder, V. Anand, J. E. Wither, J. D. Rioux, M. E. Alarcón-Riquelme, T. J. Vyse. 3383W The Kaiser Permanente/UCSF Genetic Epidemiology Research Study on Adult Health and Aging: Local ancestry estimations in the admixed individuals of the Genetic Epidemiology Research on Aging cohort. S. I. Candille, N. A. Johnson, Y. Banda, T. Hoffman, M. Kvale, C. Sabatti, S. Hesselson, P. Y. Kwok, C. Schaefer, N. Risch, H. Tang. 3384T Multi-way admixture deconvolution using phased or unphased ancestral panels. C. Churchhouse, J. Marchini. 3385F A panel of ancestry informative markers for the South African Coloured population. M. Daya, L. Van der Merwe, M. Möller, E. Hoal, C. R. Gignoux, J. M. Galanter, B. M. Henn. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

253 POSTER SESSIONS W A scalable pipeline for local ancestry inference using thousands of reference individuals. C. B. Do, E. Durand, J. M. Macpherson, B. Naughton, J. L. Mountain. 3387T Global genome-wide variations comparisons show a generally homogeneous Levant that has been recently structured by culture. M. Haber, D. Comas, P. A. Zalloua. 3388F Human and Helicobacter pylori ancestries in Colombian populations with contrasting risks of gastric cancer. N. Kodaman, A. Pazos, M. B. Piazuelo, B. G. Schneider, C. L. Shaffer, J. Romero-Gallo, T. de Sablet, L. E. Bravo, K. Wilson, T. Cover, P. Correa, S. Williams. 3389W Deep ancestry within a Neandertal-like region on human chromosome 12. F. L. Mendez, J. C. Watkins, M. F. Hammer. 3390T Sub-continental ancestry of admixed Caribbean populations and implications for medical genomics in the Americas. A. Moreno Estrada, S. Gravel, M. L. Cuccaro, F. Zakharia, P. Ortiz-Tello, R. J. Martinez, J. L. McCauley, E. E. Kenny, D. J. Hedges, R. W. Morris, J. K. Byrnes, S. Acevedo, P. J. Norman, Z. Layrisse, P. Parham, C. D. Bustamante, E. R. Martin. 3391W Population structure and ancestry inference under sample selection bias. S. S. Shringarpure, E. P. Xing. 3392T Genome-wide effects of sex-specific incompatibility on neutral introgression. M. Uyenoyama. 3393W Admixture analysis of spontaneous hepatitis C virus clearance among individuals of African descent. G. L. Wojcik, P. Duggal on behalf of International Consortium of HCV Spontaneous Resolution. 3394T A genome-wide perspective of population structure and individual admixture in Xinjiang: Implications for demographic history and complex trait gene mapping. S. Xu, S. Li, D. Lu, P. Qin, H. Lou, W. Jin, X. Pan, L. Jin. 3395W Genomics variants in the endogamous Mashadi Jewish population identified by pooled whole exome sequencing. H. Ostrer, W. J. Huh, G. Akler, L. U., M. Popovic, D. Kural, J. Sheffield, E. Burns, G. Atzmon, C. Oddoux. 3396T An evaluation of genetic characteristics of two population isolates from Greece: The HELIC-Pomak and MANOLIS studies. G. Dedoussis, I. Tachmazidou, A. E. Farmaki, L. Southam, K. Palin, A. Kolb-Kokocinski, W. Rayner, E. Daoutidou, I. Ntalla, K. Panoutsopoulou, E. Tsafantakis, M. Karaleftheri, E. Zeggini. 3397W Genomic variants in the Dominican population identified by whole exome genotyping using Affymetrix Axiom Arrays. C. Oddoux, C. Cambell, L. U., H. Ostrer. 3398T A population-based study and subsequent disclosure of autosomal recessive disease-causing mutations in a founder population. J. X. Chong, R. L. Anderson, R. Ouwenga, D. J. Waggoner, C. Ober. 3399W Deep-coverage whole genome sequencing of 100 Qatari reveals elevated prevalence of populationspecific variants linked to disease. J. L. Rodriguez- Flores, K. A. Fakhro, N. R. Hackett, J. Salit, J. Fuller, J. A. Malek, R. Badii, A. Al-Marri, L. Chouchane, R. G. Crystal, J. G. Mezey. 3400T Single gene disorders in Western India: Cohort of high risk group. C. Ankleshwaria, J. Sheth, H. Patel, J. Lekshami, F. Sheth. 3401W Study on the distribution of rare genetic variations in the French Canadian population. S. Girard, L.-P. Lemieux Perreault, I. Mongrain, G. Lettre, J. Rioux, M. Phillips, S. de Denus, G. A. Rouleau, J.-C. Tardif, M.-P. Dube. 3402T Identification of a novel Native American Y chromosome founding lineage in northwest South America. L. Roewer, M. Nothnagel, L. Gusmão, V. Gomes, M. Gonzaléz, D. Corach, A. Sala, E. Alechine, T. Palha, N. Santos, A. Ribeiro-dos-Santos, M. Geppert, S. Willuweit, M. Nagy, S. Zweynert, M. Baeta, C. Núñez, B. Martínez- Jarreta, F. González-Andrade, E. Fagundes de Carvalho, D. Aparecida da Silva, J. J. Builes, D. Turbón, A. M. Lopez Parra, E. Arroyo-Pardo, U. Toscanini, L. Borjas, C. Barletta, S. Santos, M. Krawczak. 3403W Single nucleotide variation analysis of protein domain signatures of human genes. J. Freudenberg. 3404T Investigating the evolution of deleterious mutations in the major histocompatibility complex as a potential explanation for frequently observed HLA-disease associations. T. L. Lenz, D. M. Jordan, S. R. Sunyaev. 3405W Quantifying the degree of purifying selection in genes associated with nephrotic syndrome. M. G. Sampson, M. Kretzler, H. M. Kang. 3406T An assessment of population stratification in rare variant association tests using an analytic model of joint site frequency spectra. M. Reppell, M. Zawistowski, D. Wegmann, R. Weyant, P. L. St. Jean, M. G. Ehm, M. R. Nelson, J. Novembre, S. Zöllner. 3407W Estimating and interpreting F ST : The impact of rare variants. G. Bhatia, N. Patterson, S. Sankararaman, A. L. Price. 3408T Are rare and common variant stratification patterns the same? E. Génin, M.-C. Babron, M. de Tayrac, D. N. Rutledge, E. Zeggini. 3409W Variant frequency and the scale of population structure. P. Raska, O. De la Cruz Cabrera. 3410T Male-specific common CNVs and complex gender differences in CNV detected among 808 olfactory receptor loci, in 150 phenotypically normal individuals from the 1000 Genome Project. F. Shadravan. POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

254 252 POSTER SESSIONS 3411W Transcriptome sequencing across seven diverse populations characterizing novel transcript isoforms and allele-specific expression. H. A. Costa, A. R. Martin, J. M. Kidd, B. M. Henn, M. C. Yee, F. Grubert, S. B. Montgomery, H. M. Cann, M. P. Snyder, C. D. Bustamante. 3412T African genome variation project. I. Tachmazidou, F. Ayele, C. Pomilla, J. Asimit, D. Gurdasani, R. Nsubuga, D. Shriner on behalf of APCDR Investigators. 3413W Inference of genetic ancestry using genotype data from a single individual. C. Chen, S. Lee, S. Pollack, D. Hunter, P. Kraft, J. Hirschhorn, A. Price. 3414W A unified model of meiosis combining recombination, non-disjunction, interference and infertility. H. R. Johnston IV, D. J. Cutler. Epigenetics 3415T Landscape of DNA methylation in meningiomas. F. Gao, L. Shi, J. Russin, L. Zeng, X. Chang, T. Chen, S. Giannotta, D. Weisenberger, G. Zada, W. Mack, K. Wang. 3416T A panel of epigenetic biomarkers of NSCLC identified from a comprehensive microarray-based DNA methylation analysis. S. C. Guo, X. T. Wang, J. B. Xu, F. L. Jin, J. C. Wang. 3417T Methylome correlation structure in human aging brain. G. P. Srivastava, M. L. Eaton, B. T. Keenan, L. B. Chibnik, J. A. Schneider, M. Kellis, D. A. Bennett, P. L. De Jager. 3418T Quantifying and normalizing methylation levels in illumina arrays. H. Xu, D. Ryu, S. Su, X. Wang, R. Podolsky, V. George. 3419T Bone health at age years is associated with IGF2 DNA methylation levels in the Newcastle Thousand Families Study cohort. C. Potter, J. C. McConnell, L. Barrett, R. M. Francis, M. S. Pearce, C. L. Relton. 3420T NSD1 mutations in Sotos syndrome alter the DNA methylation landscape of genes involved in somatic growth and neuronal transmission. R. Weksberg, H. Jin, Y. Chen, D. Grafodatskaya, M. Inbar- Feigenberg, B. H. Y. Chung, C. Cytrynbaum, S. Choufani. 3421T Aberrant expression of DNA methylation, cellular proliferation and DNA repair genes in gastric carcinogenesis? D. Q. Calcagno, F. Wisnieski, T. B. Brilhante, C. O. Gigek, E. S. Chen, M. F. Leal, S. Demachki, P. P. Assumpção, R. Artigiani, L. G. Lorenco, R. R. Burbano, M. A. C. Smith. 3422T Novel micrornas and epigenetic biomarkers for gastrointestinal stromal tumors. D. Glavač, M. Ravnik- Glavač. 3423T The epigenetic alteration of PPP1R3C in the colorectal cancer. S. K. Lee, J. W. Moon, J. Kim, H. S. Kim, S. H. Park. 3424T EGCG applications on HT-29 and MCF-7 cell lines and evaluation of tumor suppressor gene methylation. O. Ozer, Y. K. Terzi, O. Darcansoy Iseri, Z. Yilmaz Celik, F. I. Sahin. 3425T Methylation, mutational and expression analysis of IL6, IL8 and IL1B on the different tumor tissues. M. Poulin, A. Meyer, G. Gonzalez, J. Xu, L. Yan. 3426T Methylation profiling of tumor suppressor genes in invasive ductal breast carcinoma. Y. K. Terzi, F. I. Sahin, O. Ozer, Z. Yilmaz Celik, B. Demirhan, M. C. Yagmurdur. 3427T Whole genome bisulfite sequencing of acute lymphoblastic leukemia cells. P. Wahlberg, J. Nordlund, O. Karlberg, C. Bäcklin, U. Liljedahl, E. Forestier, M. Gustafsson, G. Lönnerholm, A.-C. Syvänen. 3428T Integrative genomic and epigenomic profiling of bladder cancer. A. Woloszynska-Read, D. Wang, L. Yan, Q. Hu, J. Wang, W. Bshara, J. Conroy, K. Guru, C. Morrison, S. Liu, D. L. Trump, C. S. Johnson. 3429T Differential and sex-specific DNA methylation of the placental LEP promoter in early onset preeclampsia. K. Hogg, J. D. Blair, M. S. Peñaherrera, K. Louie, P. von Dadelszen, W. P. Robinson. 3430T A genome-wide DNA methylation association study of young-onset hypertension in Han Chinese population of Taiwan. K. M. Chiang, H. C. Yang, J. W. Chen, W. H. Pan. 3431T Genome-wide DNA methylation profiling of monozygotic twins discordant for trisomy 21. A. Letourneau, M. R. Sailani, F. Santoni, D. Robyr, P. Makrythanasis, A. Sharp, S. E. Antonarakis. 3432T Genome-wide quantitative DNA methylation analysis of imprinted DMRs in patients with Beckwith- Wiedemann syndrome by MALDI-TOF MS technology. T. Maeda, K. Jozaki, H. YAtsuki, K. Higashimoto, H. Soezima. 3433T Epigenomic features and transcription factor binding sites associate with hotspots of genomic instability in human germline and in cancer. C. Coarfa, C. S. Pichot, A. R. Jackson, A. Tandon, S. Raghuraman, S. Paithankar, A. V. Lee, S. E. McGuire, A. Milosavljevic. 3434T DNA methylation influences lipid and adipokine profiles. M. A. Carless, H. Kulkarni, D. L. Rainwater, A. G. Comuzzie, M. C. Mahaney, J. Blangero. 3435T Identification of epigenetic markers underlying increased risk of type 2 diabetes in South Asians: The EpiMigrant Pilot Study. A. Drong, C. Blancher, M. R. Jarvelin, C. M. Lindgren, P. Elliott, M. I. McCarthy, J. S. Kooner, J. C. Chambers. 3436T Epigenome-wide association analysis identified aging alteration of DNA methylation level in the W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

255 POSTER SESSIONS 253 genes related to metabolic pathways. H. Kitajima, K. Yamamoto. 3437T Alterations in methylation status of immune response genes promoters in cell-free DNA during a hemodialysis procedure in patients with diabetic nephropathy and in non-diabetic subjects. M. Korabecna, E. Pazourkova, A. Horinek, M. Mokrejsova, V. Tesar. 3438T Genome-wide DNA methylation study of obesity and type 2 diabetes. D. Zhou, D. Zhang, Z. Zhang. 3439T Density of inter-individual epigenome variation uncovered by integrative epigenome mapping at single base resolution. J. J. Lambourne, S. Busche, V. Adoue, T. Kwan, M. Caron, G. Bourque, M. Lathrop, T. Pastinen. 3440T Allelic-dropout during PCR in the promoter of an imprinted gene potentially caused by interaction between G-quadruplex structures and DNA methylation. M. A. Kennedy, A. J. Stevens, S. Stuffrein- Roberts, A. Gibb, K. Doudney, A. Bagshaw, A. Aitchison, M. R. Eccles, V. V. Filichev, P. R. Joyce. 3441T Genetics of global DNA methylation patterns in adipose tissue from twins and its effect on gene expression and disease: The MuTHER Study. E. Grundberg, E. Meduri, J. K. Sandling, A. K. Hedman, S. Keildson, J. Nisbet, M. Sekowska, A. Wilk, A. Barett, K. S. Small, J. T. Bell, E. T. Dermitzakis, M. I. McCarthy, T. D. Spector, P. Deloukas. 3442T A methylome-wide MBD-seq study followed by replication in a total of 3,000 schizophrenia casecontrol samples identifies new disease biomarkers. K. A. Aberg, J. L. McClay, S. Nerella, S. L. Clark, G. Kumar, W. Chen, A. N. Khachane, G. Gao, L. Y. Xie, A. Hudson, J. Bukszar, C. M. Hultman, P. F. Sullivan, P. K. E. Magnusson, E. J. C. G. van den Oord, Swedish Schizophrenia Consortium. 3443T Genome-wide estimation of DNA methylation heritability in CD4 T-cells from 80 families. D. Absher, L. Waite, H. Tiwari, D. Arnett. 3444T Epigenetic second hit on gene body of PKD1 leads to cystic kidney in ADPKD. J. Bae, Y. Woo, J. Lee, J. Park, Y. Kim. 3445T Altered DNA methylation in preeclamptic placentas. J. D. Blair, R. K. C. Yuen, P. von Dadelszen, W. P. Robinson. 3446T Highly abnormal methylation of the placental genome in the CBAXDBA model of pregnancy failure. S. Brown, E. Bonney, L. Brown. 3447T DNA methylation profiles of paediatric obsessive compulsive disorder. D. T. Butcher, G. L. Hanna, D. R. Rosenberg, R. Weksberg, P. D. Arnold. 3448T Complete or partial loss of methylation at the GNAS locus identified in patients referred for molecular diagnosis of pseudohypoparathyroidism type 1a. G. S. Charames, S. J. Steinberg, B. A. Karczeski, M. A. Levine, G. R. Cutting. 3449T DNA methylation of ADCYAP1R1 is associated with childhood asthma in Puerto Ricans. W. Chen, N. Boutaoui, Y. Y. Han, J. Brehm, C. Schmitz, E. Acosta- Perez, M. Cloutier, D. Calvert, S. Thornton-Thompson, D. B. Wakefield, M. Alvarez, A. Colón-Semidey, G. Canino, J. C. Celedón. 3450T The role of DNA methylation in cognitive decline and Alzheimer s disease. L. B. Chibnik, B. T. Keenan, G. Srivastava, M. L. Eaton, A. Meissner, J. A. Schneider, M. Kellis, D. Bennett, P. L. De Jager. 3451T Distinct DNA methylation signature in ovarian cancer histological subtypes. M. S. Cicek, D. C. Koestler, B. L. Fridley, S. M. Armasu, K. R. Kalli, M. C. Larson, R. A. Vierkant, B. J. Winterhoff, J. Chien, J. B. Fan, M. Bibikova, B. Klotzle, G. Konecny, V. Shridhar, J. M. Cunningham, E. L. Goode. 3452T Identifying new biomarkers for alcohol use behaviors in a methylome-wide MBD-seq study. S. L. Clark, K. A. Aberg, S. Nerella, G. Kumar, J. L. McClay, W. Chen, L. Y. Xie, A. Hudson, G. Gao, J. Bukszar, C. M. Hultman, P. K. E. Magnusson, P. F. Sullivan, E. J. C. G. van den Oord, Swedish Schizophrenia Consortium. 3453T Smoking reduces DNA methylation levels at multiple genomic loci. P. Deloukas, L. Tsaprouni, T.-P. Yang, J. Bell, K. J. Dick, S. Kanoni, C. Nelson, E. Meduri, F. Cambien, C. Hengstenberg, J. Erdmann, H. Schunkert, A. H. Goodall, W. H. Ouwehand, T. Spector, N. J. Samani. 3454T DNA hypomethylation of INS-IGF2 and BACH2 in affected individuals within discordant monozygotic twins supports a role for epigenetic influences in type 1 diabetes susceptibility. E. Elboudwarej, H. Quach, P. Ramsay, J. Lane, E. Sinclair, L. Criswell, P. Fain, J. Jeffrey, G. Eisenbarth, L. Barcellos, J. Noble. 3455T Migration and DNA methylation: A comparison of methylation patterns in type 2 diabetes susceptibility genes between Indians and Europeans. H. R. Elliott, G. K. Walia, A. Duggirala, A. Groom, S. U. Reddy, G. R. Chandak, V. Gupta, M. Laakso, J. M. Dekker, M. Walker, S. Ebrahim, G. Davey Smith, C. L. Relton, RISC Consortium. 3456T DNA methylation alterations associated with autism spectrum disorders. D. Grafodatskaya, R. Rajendram, Y. Lou, D. T. Butcher, L. Senman, C. Windpassinger, W. Roberts, S. W. Scherer, R. Weksberg. 3457T A population-based method for identification of differential methylation regions among samples. C. L. Hsiao, C. S. J. Fann, C. J. Chang. 3458T Genetics and epigenetics of PON1 in Mexican- American children. K. Huen, K. Harley, P. Yousefi, A. Bradman, L. Barcellos, B. Eskenazi, N. Holland. 3459T Comprehensive DNA methylation profiling POSTER SESSIONS W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

256 254 POSTER SESSIONS of 3.7 million CpGs with the SureSelect target enrichment system. K. Jeong, M. Corioni, F. Useche, A. Shafer, E. Haugen, B. Novak, S. Happe, D. Roberts, J. Stamatoyannopoulos, E. LeProust. 3460T The development of a method for in-solution hybrid capture of bisulfite-converted DNA for targeted bisulfite sequencing of 175 ADME genes. M. Kals, M. Ivanov, M. Kacevska, A. Metspalu, M. Ingelman-Sundberg, L. Milani. 3461T Association of fetal-derived hypermethylated RASSF1A concentrations in placenta-mediated pregnancy complications. S. Kim, M. Kim, S. Park, D. Lee, J. Lim, J. Han, H. Ahn, J. Chung, M. Ryu. 3462T Epigenome-wide association study of rheumatoid arthritis. I. Koh, J. Kim, J. Yoon, B. Kim, I. Park, K. Kim, Y. Kim, R. Huh, B. Han, S. Bae, J. Bae, J. Lee. 3463T DNA methylation analysis of ips cells using whole-genome bisulphite sequencing. D. S. Lee, J. Y. Shin, Y. S. Ju, J. I. Kim, P. Tonge, M. Puri, A. Nagy, J. S. Seo. 3464T Advanced genome-wide methylome profiling and analysis of leukemia reveals novel epigenetic dynamics. S. Li, A. Akalin, F. Garrett-Bakelman, A. Melnick, C. Mason. 3465T Differential methylation of colorectal adenomas of the right side. J. Li, D. Koestler, J. Baron, A. Dietrich, G. Tsongalis, L. Butterly, M. Goodrich, C. Marsit, J. Moore, A. Andrew, A. Srivastava. 3466T Methylation quantitative trait loci and epigenetic networks underlying asthma-related traits. L. Liang, S. A. G. Willis-Owen, K. C. C. Wong, A. Binia, G. Davies, J. M. Hopkin, I. Yang, T. Pastinen, D. A. Schwartz, G. Abecasis, G. M. Lathrop, M. F. Moffatt, W. O. C. M. Cookson. 3467T Activation of silenced tumor suppressor genes in prostate cancer cells by a novel energy restrictionmimetic agent. H. Lin, Y. Kuo, Y. Weng, I. Lai, T. Huang, S. Lin, D. Niu, C. Chen. 3468T Patterns of SNP-based genome-wide heritability of methylation in four brain regions. J. Listgarten, G. Quon, C. Lippert, D. Heckerman. 3469T Statistical models to predict DNA methylation level across different tissues in human. B. Ma, E. Wilker, S. A. G. Willis-Owen, K. C. C. Wong, A. Baccarelli, J. Schwartz, W. O. C. M. Cookson, K. Khabbaz, M. A. Mittleman, M. F. Moffatt, L. Liang. 3470T Comparative DNA methylation in TrkB gene across brain regions of suicide completers. G. Maussion, B. Labonté, C. Ernst, A. Diallo, J. Yang, N. Mechawar, G. Turecki. J. Mill, K. Lunnon, M. Volta, R. Smith, J. Powell, Y. Patel, N. Buckley, J. Cooper, C. Troakes, V. Haroutunian, S. Lovestone, L. Schalkwyk. 3472T Cytosine modifications and cellular sensitivity to chemotherapeutics. E. L. Moen, X. Zhang, S. M. Delaney, L. A. Godley, M. E. Dolan, W. Zhang. 3473T Aberrant promoter hypermethylation of MMP16 gene in the colorectal cancer. J. Moon, S. Lee, J. Kim, G. You, J. Lee, J. Kim, H. Kim, S. Park. 3474T Deep sequencing reveals allelic and parental inheritance patterns of genome-wide DNA methylation in large number of nuclear pedigrees with schizophrenia. R. A. Ophoff, N. Plongthongkum, T. Wang, Y. Zhang, K. R. Van Eijk, R. S. Kahn, M. P. M. Boks, S. Horvath, K. Zhang. 3475T Methylation pattern of twin groups with Behcet s syndrome. M. Ozkilic, B. Shamloo, G. Celikyapi Erdem, E. Seyahi, H. Yazici, E. Tahir Turanli. 3476T Integrated analysis of genome-wide DNA methylation and gene expression in post-mortem schizophrenia brain samples. R. Pidsley, J. Viana, C. Troakes, S. Al-Sarraj, L. Schalkwyk, J. Mill. 3477T Determination of methylation profile in patients with schizophrenia. B. Rukova, R. Staneva, S. Hadjidekova, D. Nikolova, V. Milanova, D. Toncheva. 3478T Association of CpG island shore methylation in peripheral blood with disease state and SNP variants in the MLH1 region in colorectal cancer patients. A. Savio, M. Lemire, M. Mrkonjic, S. Gallinger, B. Zanke, T. Hudson, B. Bapat. 3479T The DNA methylation landscape of human placenta. D. Schroeder, H. Yu, P. Lott, D. Hong, C. Walker, I. Korf, J. M. LaSalle. 3480T Methylation quantitative trait loci are consistently detected across ancestry, age and tissue type. A. K. Smith, V. Kilaru, M. Kocak, L. M. Almli, K. B. Mercer, E. B. Binder, K. J. Ressler, F. A. Tylavsky, K. N. Conneely. 3481T Whole-genome methylation analysis: New insights in BEN molecular ethiology. R. Staneva, B. Rukova, I. Dimova, S. Hadzhidekova, O. Boyanova, M. Polenakovic, V. Stefanovic, R. Cukuranovic, V. Djonov, A. Galabov, D. Toncheva. 3482T Genome-wide differences in DNA methylation identified in children with Williams-Beuren syndrome. E. Strong, D. Butcher, C. B. Mervis, C. A. Morris, R. Weksberg, L. R. Osborne. 3483T Genome-wide profiling of 5-formylcytosine in embryonic stem cells. K. E. Szulwach, C. X. Song, Q. Dai, Y. Fu, P. Liu, L. Li, Y. Li, G. L. Xu, C. He, P. Jin. 3471T Methylomic variation In Alzheimer s disease. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

257 POSTER SESSIONS T Extremely preterm infants are epigenetically different from term infants at birth and an epigenetic legacy of preterm birth may remain at 18 years of age. C. Theda, M. Cruickshank, A. Oshlack, P. Sheehan, R. Saffery, P. Davis, LW. Doyle, J. Craig. 3485T Genome-wide detection and analysis of CpG dinucleotide methylation in cancer fatigue studies. D. Wang, H. Lee, W. Xiao, C. Hsiao, H. Kim, R. Dionne, L. Saligan. 3486T Prediction of total serum IgE using genomewide methylation profile. X. Wang, S. A. G. Willis-Owen, K. C. C. Wong, A. Binia, G. Davies, J. M. Hopkin, G. M. Lathrop, M. F. Moffatt, W. O. C. M. Cookson, L. Liang. 3487T Epigenomic profiling of autism spectrum disorder. C. C. Y. Wong, L. C. Schalkwyk, E. L. Meaburn, A. Ronald, T. S. Price, R. Plomin, D. H. Geschwind, J. Mill. 3497T A noncoding imprinted RNA, MESTIT1 is essential for the repression in cis of KLF14. S. Horike, M. Meguro-Horike. 3498T MeCP2 is required for chromatin higher-order structure and dynamics at the imprinted 15q11-q13 locus. M. Meguro-Horike, D. H. Yasui, W. Powell, J. M. LaSalle, S. Horike. 3499T DNA methylation analysis of reciprocal genomewide UPDs to define imprinted differentially methylated regions in the human genome. K. Nakabayashi, A. M. Trujillo, C. Tayama, V. Romanelli, P. Lapunzina, M. Kagami, H. Soejima, H. Ogata, F. Court, D. Monk, K. Hata. 3500T The imprinted C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein. L. C. Neumann, Y. Markaki, E. Mladenov, D. Hoffmann, K. Buiting, B. Horsthemke. POSTER SESSIONS 3488T Microarray-based genome-wide analyses of DNA methylation in hematological malignancies. Y. Yang, H. Mei, L. Edelmann, A. J. Sharp, I. Peter, V. Najfeld, C. R. Geyer, J. F. DeCoteau, S. A. Scott. 3489T Discovery of cross-reactive probes in the Illumina Infinium HumanMethylation450 microarray: A cautionary tale. Y. Chen, M. Lemire, S. Choufani, D. T. Butcher, D. Grafodatskaya, B. W. Zanke, R. Weksberg. 3490T Epigenetic changes in response to common environmental compounds. V. Labrie, I. Rezaian, S. Konigorski, N. Miller, Y. Li, C. Austin, R. Tice, M. Xia, A. Ngom, L. Rueda, R. Kustra, A. Petronis. 3491T Regulatory network of microrna action: mir- 199a in health and diseases. S. Gu, Y. K. Suen, W. Y. Chan. 3492T Gold nanoparticles cause variation in the level of methylation in H3K4 and H3K9. A. Polverino, A. Iuliano, L. Cristino, R. Imperatore, A. Longo, G. Carotenuto, S. De Nicola, M. Piscopo, L. Fucci, E. Vitale. 3493T Gene methylation and allelic expression imbalance of the CYP1A2 and CYP3A4 genes in human livers. J. Shi, W. Shou, Z. Niu, Y. Wang, K. Zhang, W. Huang. 3494T 6q24 Transient neonatal diabetes mellitus: 16 years of data collection. I. K. Temple, S. Kabwama, L. Doherty, S. Ennis, E. Cook, L. Harrison, S. Ellard, S. Flanagan, A. T. Hattersley, J. P. H. Shield, D. J. G. Mackay. 3495T Genome-wide profiling of human uniparental tissues to search for novel imprinted genes. S. Wen, W. Wan, A. Balasa, S. Mahadevan, Z. Liu, I. B. Van den Veyver. 3496T Next generation bisulfite analysis around a 2.2 kb ICR1 deletion in 11p15.5 reveals variable hypermethylation explaining reduced penetrance in BWS families. J. Beygo, V. Citro, D. Prawitt, M. Heitmann, K. Rademacher, B. Horsthemke, A. Riccio, K. Buiting. 3501T The language gene FOXP2 is not imprinted. A. C. Thomas, J. M. Frost, F. Khadem, P. Stanier, G. E. Moore. 3502T Evaluation of gene expression profile of chromatin modification enzymes in ACP02 and ACP03 gastric cell lines. J. C. Santos, R. R. Burbano, M. L. Ribeiro. 3503T Expression patterns of histone acetylation modifier genes in gastric cancer. F. Wisnieski, D. Q. Calcagno, M. F. Leal, T. B. Pontes, C. O. Gigek, E. S. Chen, S. Demachki, L. G. Lourenço, P. P. Assumpção, R. Artigiani, R. R. Burbano, M. A. C. Smith. 3504T The enzyme holocarboxylase synthetase mediates biotin-independent gene-silencing through the recruitment of histone deacetilases in the nucleus of human cells. I. Trujillo, T. Barrios-García, S. Reyes- Carmona, I. Meneses-Morales, A. Leon-Del-Rio. 3505T Epigenetic variation among humans. M. Kasowski, F. Grubert, S. Kyriazopoulou-Panagiotopoulou, A. Kundaje, J. Li, D. Spacek, M. Snyder. 3506T Expression of mouse Lin28 gene is epigenetically regulated by histone modification. A. Pang, A. Title, O. M. Rennert. 3507T Transcriptional and epigenetic variation in human induced pluripotent stem cells. N. Kumasaka, F. Rouhani, L. Vallier, A. Bradley, D. Gaffney. 3508T The ratio of IGF2/IGF2R in chorionic villus samples as a biomarker for birth weight. C. Demetriou, A. Thomas, M. Ishida, S. Abu-Amero, R. Aggarwal, D. Peebles, A. Syngelaki, K. Nicolaides, L. Regan, G. E. Moore. 3509T Genome-wide studies of methylation in the mouse frontal cortex reveals novel imprinted differential methylated regions and non-cg methylation. C. Barr, W. Xie, Y. Feng, K. Wigg, E. Dempster, L. Gomez, J. Eubanks, B. Ren. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

258 256 POSTER SESSIONS 3510T An integrated analysis of DNA methylation, histone modifications and gene expression in monozygotic twins discordant for psoriasis identifies disease-associated genes. R. Lyle, K. Gervin, G. D. Gilfillan, M. Hammerø, H. S. Hjorthaug, A. O. Olsen, T. Hughes, J. R. Harris, D. E. Undlien. 3511T Monozygotic male twins with loss of methylation at DMR2 but discordant for clinical features of Beckwith Wiedemann syndrome. J. Lazier, M. A. Thomas. 3512T Acquired epigenetic and chromosomal instability alterations are present in adults who experienced childhood sexual abuse: A discordant monozygotic twin study. T. York, J. Brumelle, J. Juusola, K. Kendler, E. Eaves, A. Amstadter, S. Aggen, K. Jones, S. Latendresse, A. Ferreira-Gonzalez, C. Jackson-Cook. 3513T Genome-wide DNA methylation and gene expression analyses of monozygotic twins discordant for intelligence levels. C. C. Yu, M. Furukawa, K. Kobayashi, C. Shikishima, P. C. Cha, J. Sese, H. Sugawara, K. Iwamoto, T. Kato, J. Ando, T. Toda. 3514T Analysis of expressed SNPs identifies new genes escaping X-chromosome inactivation and variable extents of expression from the inactive X. A. Cotton, B. Ge, T. Pastinen, C. Brown. 3515T Investigating the role of the WICH chromatin remodeling complex in maintaining facultative heterochromatin at the human inactive X chromosome through targeted deletion of the BAZ1B gene using zinc finger nuclease technology. A. E. Culver-Cochran, B. P. Chadwick. 3516T DNA methylation profiling in X;autosome translocations supports a role for repeat elements in the spread of X chromosome inactivation. A. Sharp, N. Bala, M. Brahmachary, P. Garg, C. Borel. 3517T Tools for epigenetic research. L. Apone, P. Liu, G. Lohman, E. Cantor, B. Langhorst, D. Munafo, C. Sumner, E. Yigit, L. Merrill, F. Stewart, T. Evans, E. Dimalanta, T. Davis. 3518T Sex-influenced epigenetic effects in chromosomal rearrangements. J. Kapalanga, D. Wong, N. Nwebube, A. Gandy. 3519T The relationship between paternal uniparental disomy and clinical features in patients with Beckwith- Wiedemann syndrome. O. Yasufumi, K. Jozaki, T. Maeda, H. Yatsuki, K. Higashimoto, H. Soejima. 3520T Streamlined chromosome conformation capture workflow for the studies of human -globin gene control by locus control region. C. Woo, C. Liu, S. Dong. 3521T micrornas in the sclera: Role in ocular growth regulation and implications for myopia. R. Metlapally, P. Gonzalez, F. A. Hawthorne, K. Tran-Viet, C. F. Wildsoet, T. L. Young. 3522T DNA combing assay for detection of contraction-dependent facioscapulohumeral muscular dystrophy (FSHD1). F. Z. Boyar, P. Chan, V. Sulcova, D. Tsao, R. Owen, P. Walrafen, C. D. Braastad, M. Jocson, W. Sun, A. Anguiano, C. M. Strom. 3523T RNA editing of the SDHB transcripts (C to U) in peripheral blood monocytes. R. T. Taggart, J. D. Tario, K. H. De Jong, P. K. Wallace, B. E. Baysal. 3524T FTO levels affect RNA modification and the transcriptome. T. Berulava, M. Ziehe, L. Klein-Hitpass, E. Mladenov, J. Thomale, U. Rüther, B. Horsthemke. 3525T Prioritizing candidate functional SNPs at GWAS loci using epigenomic datasets from ENCODE. K. S. Lo, C. D. Palmer, J. N. Hirschhorn, G. Lettre. Bioinformatics and Genomic Technology 3526W Bioinformatic parallel processing tools development for mutation identification from whole exome data following homozygosity mapping for autosomal recessive disorders. Y. Al-Sarraj, A. Abouzehry, H. ElShanti, M. Kambouris. 3527F Kailos Blue : A complete cloud-based bioinformatics solution for management and analysis of targeted sequencing across next-generation sequencing platforms. R. C. Bachmeyer, D. A. Kloske, B. Stone, K. E. Varley, D. T. Moore. 3528W Streamlined, accurate low level detection of variants in deep, next-generation sequencing data from amplicons. C. Boysen, M. Matvienko, N. Thomson, B. Turner, J. Bendtsen, H. Sandmann, J. Jakobsen, P. Nielsen, A. Joecker, A. Joecker. 3529F De novo assembly by positional sequencing. B. Bready, P. Goldstein, W. H. Heaton, P. Ianakiev, H.-Y. Li, J. S. Oliver, J. Thompson. 3530W Translational research in newborn screening: development of informatics tools to support longitudinal research and accelerate transformations in clinical practice. A. Brower, B. Bowdish, M. Porter, J. Pennington, S. Wrazien, J. Loutrel, P. White, M. Watson. 3531F Web-based tool for target sequence capture assay design. J. Cai, B. Morrow. 3532W wannovar: Annotating genetic variants for personal genomes via the Web. X. Chang, K. Wang. 3533F Simultaneous analysis of common and rare variants in complex traits. G. Chen, A. Yuan, A. Bentley, D. Shriner, A. Adeyemo, C. Rotimi. 3534W On combining reference data to improve imputation accuracy. J. Chen, J. G. Zhang, J. Li, Y. F. Pei, H. W. Deng. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

259 POSTER SESSIONS F Improved filtering and annotation of nextgeneration sequencing variants in clinical gene panels. H. K. Chong, S. Mexal, A. M. Elliott, H. M. Lu, H. Lu, X. Li. 3549F Capture-recapture models for evaluation of algorithms estimating functionality of missense mutations. S. Hicks, S. E. Plon, M. Kimmel. 3536W Discovery of a cis-regulatory SNP at the PPARG diabetes risk locus. M. Claussnitzer, H. Grallert, S. N. Dankel, B. Klocke, H. Lee, S. Hauck, V. Glunk, C. Hoffmann, M. Seifert, G. Mellgren, T. Illig, H. Hauner, H. Laumen. 3537F dbgeno: A web-based complex disease curation pipeline. D. Cook, J. Dagle, K. Ryckman, J. Murray. 3538W EVA: Exome Variation Analyzer, a tool for filtering strategies in medical genomics. S. Coutant, C. Cabot, A. Lefebvre, M. Léonard, E. Prieur-Gaston, D. Campion, T. Lecroq, T. Frebourg, H. Dauchel. 3539F Random design tool for additional MIDs for Roche sequencing platforms. S. H. Eck, B. Grumbt, I. Nieberle, C. Marschall, K. Hirv, H.-G. Klein. 3550W The Unified Sample Identifier: A universal sample coding system to manage large numbers of biological samples. P. Hoffmann, J. E. Bolz, A. Reinscheidt, T. F. Wienker, S. Cichon, S. Herms. 3551F Systematic evaluations of sequencing errors in next-generation sequencing data. Y. Hu, Y. Liu, J. Ferguson, I. Silverman, B. Gregory, M. Reilly, M. Li. 3552W EGprofile: A tool for rapid profiling analysis of epigenetic marks with ChIP-seq data. W. Huang, L. Li. 3553F SOAPfuse detects gene fusions from paired-end RNA-seq data with single base resolution. W. Jia, K. Qiu, M. He, P. Song, Q. Zhou, F. Zhou, X. Hu, Y. Li, G. Guo. 3554W Personalized genomics: Personalized pathway mapping. P. Jia, Z. Zhao. POSTER SESSIONS 3540W A functional gene-based test for association in Tourette s syndrome and obsessive-compulsive disorder. P. Evans, TSA Consortium for Genetics, The International OCD Foundation Genetics Collaborative. 3541F Statistical considerations for decisions on applying globin RNA reduction in blood samples for gene expression experiments. S. Feng, J. Dungan, S. Gregory, C. Haynes, W. Kraus. 3542W Biofilter 2.0 for advanced predictive model development, testing, and hypothesis generation using expert domain knowledge resources. A. Frase, J. Wallace, C. Moore, N. Katiyar, S. A. Pendergrass, M. D. Ritchie. 3543F Iterated correction of a diploid parental reference sequence and its use during exome alignments for disease gene discovery. T. R. Gall, D. R. Adams, C. F. Boerkoel, K. Fuentes-Fajardo, W. A. Gahl, P. Cherukuri, M. Sincan, C. Toro, C. J. Tifft, T. C. Markello. 3544W Kinship index variations among populations and thresholds for familial searching. J. Ge, B. Budowle. 3545F Transparent, accessible, and robust functional analysis of SNPs. B. Giardine, R. Burhans, C. Riemer, A. Ratan, R. Harris, G. Von Kuster, R. C. Hardison, Y. Zhang, W. Miller, Galaxy Development Team. 3546W ParseCNV integrative CNV association software with quality tracking. J. Glessner, H. Hakonarson. 3547F Web-based interactive visual analysis of NGS data using Galaxy. J. Goecks, A. Nekrutenko, J. Taylor, Galaxy Team. 3548W Computational and informational challenges in providing clinically-relevant genome interpretation from high-throughput sequencing data. R. K. Hart, Locus Development, Inc. 3555F Correcting for expression heterogeneity while identifying regulatory hotspots. J. Joo, J. Sul, B. Han, E. Eskin. 3556W GeneTalk: An expert exchange platform for assessing rare sequence variants. T. Kamphans, P. M. Krawitz. 3557F UCSC Genome Browser 2012: Distributed data, enhanced interactivity, variant annotation integrator. W. J. Kent, A. Hinrichs, D. Karolchick, A. Zweig, B. Raney, H. Clawson, M. Cline, L. Guruvadoo, K. Learned, R. Kuhn, B. Rhead, T. Dreszer, L. Meyers, C. Li, M. Diekhans, G. Roe, P. Fujita, D. Haussler. 3558W Curating genomic epidemiology data in the PAGE study. G. Kumaraguruparan, G. Mehta, A. Q. Nato, J. L. Ambite, S. Buyske, R. Mayani, C. Cai, J. S. Vockler, E. Deelman, T. C. Matise. 3559F Predicting causal variants in exome sequencing of Mendelian disorders. J. Kwan, M. X. Li, P. C. Sham. 3560W Analysis of Ewing sarcoma NGS transcriptome data highlights mechanisms of cancer progression. M. Laurance, J. Billaud, C. Bullitt. 3561F Low concordance of variant calling algorithms in exome sequencing. G. Lyon, T. Jiang, G. Sun, W. Wang, J. Hu, P. Bodily, L. Tian, B. Moore, H. Hakonarson, J. Wang, M. Yandell, E. Johnson, Z. Wei, K. Wang. 3562W DIVERGENOMEnrich: Expanding information on a genetic variation database through automatic online data retrieval. W. Magalhaes, G. Souza, G. Kingman, E. Tarazona, M. Rodrigues, Epigen-Brazil. 3563F Fast and accurate local ancestry inference on whole genome-scale data using conditional random fields. B. Maples, F. Zakharia, S. Gravel, E. Kenny, C. Bustamante. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

260 258 POSTER SESSIONS 3564W Exome sequencing of Mayo Clinic Biobank samples for evaluation of quality and quantity of data. S. Middha, S. K. McDonnell, Z. C. Fogarty, M. S. DeRycke, K. J. Johnson, N. M. Lindor, D. J. Schaid, J. E. Olson, J. R. Cerhan, S. N. Thibodeau. 3565F Genome-wide association study on the world fastest supercomputer, k computer. K. Misawa, A. Hasegawa, T. Tsunoda. 3566W A bioinformatics approach for the identification of developmental QTL candidate genes. A. Q. Nato, B. Li, F. Chen, J. H. Millonig, T. C. Matise. 3567F Multivariate profiling approach to inference on differential expression in RNA-seq data with small sample size. S. Oh, M. Kim, S. Song. 3568W Challenges and approaches to computational candidate gene prioritization using gene networks. P. Pavlidis, E. Mercier, J. Gillis. 3569F BlueSNP: An R package for high-scalability genome-wide association studies on compute clusters. R. J. Prill, H. Huang, S. Tata. 3570W Fast and accurate identification of novel sequences in de novo human genome assemblies using NSIT. B. Pupacdi, A. Javed, M. J. Zaki, M. Ruchirawat. 3571F NGS for the masses: Empowering biologists to improve bioinformatic productivity. K. Qaadri. 3572W Evaluation and visualization of functional perturbations of pathways based on whole genome variations. H. Qin, Y. Y. Shugart. 3573F Use of an ad hoc information system to support data search at a genomics center. H. Qiu, F. Mentch, E. Frackelton, C. Kim, L. Hermannsson, H. Hakonarson. 3574W Using biosignatures to stratify clinical response: Evaluation of classification methods using simulated gene expression signatures and real patient cohorts. P. Ravindran, C. Ooi, L. Kai, H. Zhong, A. Belousov, H. Bitter. 3575F Mitre: A tool for bulk updates of SNP identifiers. N. W. Rayner, N. Robertson, M. I. McCarthy. 3576W Genomic analysis from sequencer to bedside: An integrated analysis pipeline for research and clinical sequencing. J. G. Reid, M. N. Bainbridge, F. Yu, M. Dahdouli, D. Challis, P. Pham, D. P. Sexton, E. Boerwinkle, R. A. Gibbs. 3577F Human genome pattern mining framework for complex diseases. M. Riemenschneider, M. Stoll. 3578W A tool for selecting endogenous control for qrt-pcr using high throughput expression data. C. S. Rocha, C. V. Maurer-Morelli, I. Lopes-Cendes, F. M. Artiguenave. 3579F Golden Helix GenomeBrowse: Cloud-enabled visual analytics of DNA and RNA-seq NGS data. G. Rudy, S. Gardner, M. Thiesen. 3580W Informatics challenges on utilizing nextgeneration sequencing to advance disease understanding. S. Saisanit, J. Hakenberg, Y. Li. 3581F Integrated genome-phenome analysis. M. M. Segal, M. S. Williams, J. G. Gleeson. 3582W Variation data services at NCBI: Archives, tools, and curation for research and medicine. S. Sherry, K. Addess, V. Ananiev, C. Chen, D. Church, M. Feolo, J. Garner, T. Heffron, D. Hoffman, M. Kholodov, A. Kitts, J. Lee, J. Lopez, D. Maglott, R. Maiti, L. Phan, G. Riley, W. Rubinstein, D. Rudnev, Y. Shao, E. Shekhtman, K. Sirotkin, D. Slotta, R. Tully, R. Villamarin-Salomon, Q. Wang, M. H. Ward, H. Zhang. 3583F snpacts: A versatile web interface for annotating and prioritizing SNV data sets. B. Stade, D. Ellinghaus, B. Petersen, M. Forster, A. Franke. 3584W Games for gene annotation and phenotype classification. A. I. Su, S. Loguercio, C. Wu, B. M. Good. 3585F HMM-Fisher: A hidden Markov model-based method for identifying differential methylation. S. Sun, X. Yu. 3586W Automated HGVS-recommended sequence variant description. P. Taschner, J. F. J. Laros, M. Vermaat, J. T. den Dunnen. 3587F RNAseq analysis using the pipeline graphical workflow environment in neuropsychiatric disorders. F. Torri, I. D. Dinov, A. Zamanyan, S. Hobel, P. Petrosyan, Z. Liu, P. Eggert, I. Guella, J. Pierce, A. P. Clark, J. A. Knowles, J. Ames, C. Kesselman, A. W. Toga, S. Potkin, M. P. Vawter, F. Macciardi. 3588W ENViz: A Cytoscape plugin for integrative statistical analysis and visualization of multiple sample matched data sets. A. Tsalenko, A. Kuchinsky, R. Navon, M. L. Creech, I. Steinfeld, Z. Yakhini. 3589F Determining probability of rare variants: Design implications for family-based sequencing studies. W. Wang, G. Peng. 3590W Harvest: A web-based biomedical data discovery and reporting application development platform. P. S. White, B. Ruth, M. J. Italia, J. Miller, J. W. Pennington. 3591F Pinpoint: A new algorithm to detect gene-gene interactions in large-scale genome-wide association studies. D. Wong, S. Szymczak, J. E. Bailey-Wilson. 3592W A unified analysis framework for detecting genetic variations from next-generation sequencing data. C. Xiao, S. Sherry. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

261 POSTER SESSIONS F HMM-DM: Identifying differential methylation patterns using a hidden Markov model. X. Yu, S. Sun. 3594W Genotype calling for next-generation sequencing data from multiple populations. K. Zhang, D. Zhi. 3595F Detecting structural variants in cancer from whole genome and exome sequencing. J. Zhang, Y. Shi, W. Foulkes, J. Majewski. 3596W Causal inference of gene regulation based on sub-network assembly. W. Hsieh, C. Peng, A. Dai, S. Peng, T. Yen. 3597F Identification of candidate variants in population based whole exome sequencing data through integration of functional prediction with bayesian penalized regression. J. Lu, A. Sabo, J. Reid, D. Muzny, E. Boerwinkle, R. Gibbs, ARRA Autism Sequencing Consortium. 3598W Joint association of multiple correlated phenotypes using matrix-variate linear mixed-models. N. Furlotte, E. Eskin. 3608W DWAC-seq: Dynamic Window Approach for CNV detection using next-generation targeted and full genome sequencing tag density. V. Koval, J. van Rooij, K. Estrada, P. Arp, M. Jhamai, R. Kraaij, A. Uitterlinden, E. Cuppen, V. Guryev. 3609F Fast detection of de novo copy number variants from case-parent SNP arrays identifies a deletion on chromosome 7p14.1 associated with non-syndromic isolated cleft lip/palate. I. Ruczinski, R. B. Scharpf, S. Younkin, H. Schwender, M. Marazita, A. F. Scott, T. H. Beaty. 3610W VarioML framework for comprehensive variation data representation and exchange. M. Byrne, I. A. C. Fokkema, O. Lancaster, T. Adamusiak, A. Ahonen- Bishopp, D. Atlan, C. Beroud, M. Cornell, R. Dalgeish, A. Devereau, G. P. Patrinos, M. A. Swertz, P. E. M. Taschner, G. A. Thorisson, M. Vihinen, A. J. Brookes, J. Muilu. 3611F Gene-centered viewing, storing and sharing of exome/genome variant and phenotype data. J. T. den Dunnen, I. F. Fokkema, I. C. Lugtenburg, J. Hoogenboom, Z. Tatum, G. C. P. Schaafsma, M. Vermaat, J. F. J. Laros, P. E. M. Taschner. POSTER SESSIONS 3599F The human gene connectome: A map of short cuts for morbid allele discovery. Y. Itan, S. Y. Zhang, G. Vogt, A. Abhyankar, L. Quintana-Murci, L. Abel, J. L. Casanova. 3600W Transcriptome sequencing of npod type 1 diabetes pancreatic samples for viral sequence identification. S. Morfopoulou, G. Zhao, R. Ferreira, A. Pugliese, J. Petrosino, L. Thackray, V. Plagnol, npod-virus Group. 3601F VARITAS: Variant analysis with rapid incorporation of annotation sources. B. Powell. 3602W Clinical diagnostic tools for family genome and exome data. A. Russell, F. De La Vega, J. Rule, M. Reese. 3603F ASAP: An easy-to-use pipeline for sequencing data processing. E. Torstenson, C. Li. 3604W Identifying biological pathways and human diseases in high-throughput human genetic studies. C. Xie, X. Mao, J. Huang, Y. Ding, J. Wu, S. Dong, L. Kong, G. Gao, C. Li, L. Wei. 3605F GenAMap: A visual analytics software platform for eqtl and GWAS analysis. E. Xing, R. Curtis, S. Lee, S. Shringarpure, J. Yin. 3606W PHV: A high accuracy SNP and indel variant caller based on the profile hidden Markov model. M. Zhao, W. Lee, G. Marth. 3607F Developing copy number variation based casecontrol association analysis tool and its application for disease analysis. Y. Chung, J. H. Kim, H. J. Hu, S. H. Yim, J. S. Bae, S. Y. Kim. 3612W Leveraging metadata for experimental discovery at the ENCODE portal. E. L. Hong, C. Sloan, V. Malladi, K. Rosenbloom, G. Barber, G. Binkley, E. T. Chan, R. Fang, B. C. Hitz, D. Karolchik, V. Kirkup, K. Learned, J. Long, M. Maddren, M. Wong, A. Zweig, D. Haussler, J. Kent, J. M. Cherry. 3613F A Bayesian hierarchical generalized linear model for identifying multiple interacting genes in familybased case-control studies. J. Li, N. Yi. 3614W A national platform for clinical genetic analysis of high-throughput sequencing data in Norway. M. C. Eike, H. LÊrum, T. Hughes, S. Bremer, S. Bergan, G. Thomassen, M. Aanestad, T. Grünfeld, D. E. Undlien. 3615F Haplotyping human genomes using wholegenome sequence data. V. Bansal. 3616W Comparing protein prediction methods using disease-causing missense variants. P. Duggal, Y. Kim, M. K. Tilley, M. M. Parker, A. Maroo, A. P. Klein. 3617F Considerations for the processing and direct-toconsumer return of exome sequences. E. D. Harrington, C. McLean, A. Shmygelska, A. Chowdry, B. Naughton. 3618W Topological mapping and exploration of genotyping data using Iris. J. Paquette, G. Singh, G. Carlsson, P. Y. Lum. 3619F Development of 1920 barcodes for large-scale targeted sequencing using the Access Array system. X. Wang, F. Kaper, P. Chen, C. Friedlnader, G. Sun, A. May. 3620W NGS Catalog: A database of next-generation genome sequencing studies in humans. J. Xia, Q. Wang, P. Jia, B. Wang, W. Pao, Z. Zhao. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

262 260 POSTER SESSIONS 3621F Genotype imputation via matrix completion. E. C. Chi, H. Zhou, G. K. Chen, D. Ortega Del Vecchyo, K. Lange. 3622W Phenome-wide association study of common PXDN variants demonstrates association with aortic aneurysms. J. Denny, L. Bastarache, G. Bhave, S. McCall, M. Sample, R. Carroll, P. Peissig, A. Kho, C. McCarty, M. Brilliant, J. Cowan, R. Chisholm, E. Larson, G. Jarvik, C. Chute, I. Kullo, D. Roden, B. Hudson. 3623F Rare variant association testing under lowcoverage and pooling. E. Halperin, J. H. Sul, O. Navon, B. Han, L. Conde, P. Bracci, J. Riby, C. Skibola, E. Eskin. 3624W BioBin: A bioinformatics tool for biologically inspired collapsing of rare variants. C. B. Moore, J. R. Wallace, A. T. Frase, S. A. Pendergrass, M. D. Ritchie. 3625F NCBI s ClinVar: Data archive and tools for human variation of medical interest. D. Maglott, S. Chitipiralla, D. Church, M. Feolo, J. Garner, W. Jang, J. Lee, R. Maiti, J. Ostell, L. Phan, G. Riley, W. S. Rubinstein, D. Shao, S. Sherry, K. Sirotkin, R. Tully, R. Villamarin, M. Ward. 3626W Estimation of haplotype frequencies from pooled sequence data. D. E. Kessner, J. Novembre. 3627F Leveraging the haplotype information in long reads for variant calling. A. P. Singh, Y. Shen. 3628W A model of binding on DNA microarrays: Understanding the combined effect of probe synthesis failure, cross-hybridization, DNA fragmentation and other experimental details of affymetrix arrays. Y. A. Jakubek, D. J. Cutler. 3629F A recursively partitioned mixture model for clustering time-course gene expression data. D. C. Koestler, C. J. Marsit, B. C. Christensen, K. T. Kelsey, E. A. Houseman. 3630W Probing altered gene expression profiles and pathways that affect mitochondrial metabolism in cancer cells and neurodegenerative diseases through network biology approach. A. D. Yadavalli, N. B. Sepuri. 3631F Drug repositioning through data integration and advanced classification tools. D. Greco, Y. Zhao, F. Napolitano, R. Tagliaferri, M. D Amato, J. Kere. 3632W Gemini: A flexible, scalable analysis framework for medical and population genomics. U. D. Paila, A. R. Quinlan. 3633F NOCALLER: A tool to account for missing genotypes. Z. Kronenberg, C. D. Huff, M. Yandell. 3634W A novel model to predict splicing consequences of intronic nucleotide substitutions in the human genome. A. Shibata. 3635F Prioritizing disease-linked variants, genes, and pathways with an interactive whole genome analysis pipeline for the MedSeq project. S. Kong, K. Lee, K. B. Hwang, J. M. Bohn, R. C. Green, I. S. Kohane. 3636W The 1000 Genomes Project, data availability and accessibilty. L. Clarke, H. Zheng Bradley, R. Smith, I. Streeter, E. Kulesha, I. Toneva, B. Vaughan, P. Flicek, 1000 Genomes Project Consortium. 3637F Bioinformatics optimization for the detection of low-level heteroplasmy in the mitochondrial genome in myelodysplastic syndrome. S. Dames, E. Duncavage, J. Thompson, P. Shami, K. Eilbeck, M. Salama, R. Mao. 3638W Rare variant discovery in Illumina nextgeneration sequencing data: Prediction method to differentiate true variants from false positives. J. Durtschi, R. L. Margraf, K. V. Voelkerding. 3639F Memory efficient assembly of mammalian size genome. F. Hormozdiari, E. Eskin. 3640W Target capture-assisted sequence assembly for accurate genotyping of insertions and deletions. C. J. Kennedy, N. Chennagiri, M. A. Umbarger, G. J. Porreca, P. C. Saunders, V. Greger. 3641F CLC bio s integrated framework for identification and comparison of genomic variants in Mendelian diseases. M. Matvienko, A. Joecker, C. Boysen, U. Appelt, A. Fejes, L. Kahns, S. Mønsted, J. Grydholt, B. Knudsen, M. Bundgaard, J. Buur Sinding, H. Handberg, A.-M. Hein, M. Nygaard Ravn, A. Joecker, M. VÊrum, R. Forsberg. 3642W Sensitivity and resolution of whole chromosome mapping for detection and characterization of structural variations in human genomes. R. Moore. 3643F Comparison of next-generation sequencing alignment programs using 215 whole genomes from the Cache County Study on Memory Health and Aging. P. G. Ridge, Jr., J. D. Durtschi, C. D. Corcoran, R. G. Munger, Q. O. Snell, M. J. Clement, K. V. Voelkerding, J. S. K. Kauwe. 3644W Continuously evolving informatics at a mediumscale genomics center. L. Watkins, M. Barnhart, J. Goldstein, S. Griffith, E. Hsu, K. Roberts, D. Snyder, B. Craig, K. Hetrick, K. Doheny, Center for Inherited Disease Research. 3645F Genotype concordance between low-coverage whole genome and high-coverage exome sequencing: Results from the UK10K Study. H. Zheng on behalf of UK10K Consortium Cohorts Group. 3646W Genotype calling and haplotype inference for next-generation sequencing data incorporating haplotype information in sequencing reads. D. Zhi, K. Zhang. 3647F Exploring why whole genome sequencing methods result in different variant calls by comparing and integrating multiple datasets. J. M. Zook, D. Samarov, M. Salit. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

263 POSTER SESSIONS W Next-generation biomarker screening: Using Roche s 454 sequencing platform to identify somatic biomarkers. C. Lasyone, X. Tan, A. Pond, L. Szkotnicki, V. Venegas, K. B. Thomas, M. Berry, F. Lu. 3649F De novo assembly of extremely long singlemolecule genome maps imaged in Irys nanochannel arrays. M. Requa, M. Austin, H. Dai, P. Deshpande, O. Hampton, H. Sadowski, M. Saghbini, M. Xiao, H. Cao. 3650W Defining best practice guidelines for the use of NGS applications in genome diagnostics: A national collaborative study of Dutch genome diagnostic laboratories (LOD). N. van der Stoep, M. M. Weiss, Q. Waisfisz, C. Ruivenkamp, M. Nelen, J. D. H. Jongbloed, H. Brüggenwirth, M. van Slegtenhorst, R. Lekanne dit Deprez, O. Mook, A. Van den Wijngaard, M. Vogel, B. Van der Zwaag, M. M. A. M. Mannens, Dutch National Board for DNA-Diagnostics (LOD). 3651F Genome phantasmagoria: Naming genes in alternative loci. E. Bruford, R. Seal, M. Wright. 3652W Rapid preparation of targeted resequencing libraries from DNA samples using the Access Array system. C. Friedlander, X. Wang, R. Ramakrishnan. 3653F MitoExome: A custom whole exome kit for mitochondrial disease research and diagnosis that captures all MitoCarta genes and the mitochondrial genome. X. Gai, E. A. Pierce, M. Consugar, M. Lvova, D. C. Wallace, E. LeProust, M. J. Falk. 3661F Computational analysis of Exome-seq for disease gene identification with ediva. S. Ossowski, R. Rahman, O. Drechsel. 3662W The biologist s tool for finding a needle in a haystack: CLC bio s platform to identify interesting de novo and accumulative variants in the whole genome sequence of family trios. N. Thomson, A. Joecker, C. Boysen, M. Matvienko, U. Appelt, A. Fejes, L. Kahns, S. Mønsted, J. Grydholt, B. Knudsen, M. Bungaard, J. Buur Sinding, H. Handberg, A. Hiene, M. Nygaard Ravn, A. Joecker, M. VÊrum, R. Forsberg. 3663F Ultra-fast clinical sequencing and annotation of human genomes on the Illumina HiSeq 2500 platform. S. Humphray, J. Weir, Z. Kingsbury, T. James, R. Grocock, P. Saffrey, E. Margulies, K. Hall, D. Bentley, G. Smith, J. Betley, C. Raczy. 3664W Managing computing resources in large sequencing studies: Strategies and lessons from sequencing 2,120 Sardinian genomes. A. Kwong, C. Sidore, S. Sanna, H. M. Kang, G. Jun, M. Trost, P. Anderson, T. Gliedt, R. Cusano, M. Pitzalis, M. Zoledziewska, A. Maschio, F. Busonero, M. Lobina, M. Balloi, B. Tarrier, C. Brennan, C. Jones, F. Cucca, G. Abecasis, SardiNIA Project. 3665F Clinical implementation of targeted nextgeneration sequencing in a mid-sized diagnostic laboratory. H. Racher, L. Dimnik, P. Gordon, M. I. Innes, F. Bernier, J. S. Parboosingh. POSTER SESSIONS 3654W High-throughput solution for illumina fragment library sample preparations. A. Jackson, S. Verrow, M. Blair. 3655F Comparison of two next-generation sequencing technologies on the genomes of a trio family. E. Jorgenson, R. Kazma. 3656W Single-molecule, electronic, solid-state sequencing of M13 DNA. J. S. Oliver, B. Bready, D. Dederich, J. Freitas, H. Geiser, Y. He, D. Hevroni, M. Jouzi, H.-Y. Lee, P. Mukhatira, M. Nadel, J. Sariadaridis, J. Thompson. 3657F Efficient genotyping of individuals using overlapping pool sequencing and imputation. Z. Wang, F. Hormozdiari, W. Yang, E. Eskin. 3658W Whole-genome sequencing analysis of SNPs and structural variants in DNA from blood versus EBVtransformed lymphoblasts from the same subject. X. Zhu, C. Laurent, M. Haney, A. E. Urban, D. F. Levinson. 3659F Genomic capture combined with long read and short read high-throughput sequencing for assembly of the MHC region. R. J. Bloom, A. L. Collins, A. E. Byrnes, Q. Langdon, S. Happe, J. Barboza, O. Hardy, G. Yuan, S. Ranade, P. Mieczkowski, P. F. Sullivan. 3660W Automated pipeline for whole exome/genome sequencing analysis on Mendelian diseases. Y. Guo, K. Wang. 3666W High-fidelity sequencing for detection of lowfrequency single nucleotide variants. K. M. Squire, Z. Chen, S. F. Nelson. 3667F Species identification by polymorphisms of mitochondrial 12S rrna and 16S rrna genes. R. Li, L. Yang. 3668W Rapid and efficient methods for preparing globin- and rrna-depleted directional RNA-seq libraries. C. Kinross, J. Hitchen, N. Caruccio, R. Sooknanan. 3669F Sequencing performance of FFPE DNA in the SureSelect XT2 Target Enrichment System. J. Barboza, M. Ramirez, A. Giuffre, J. Ong, H. Ravi, M. Guadalupe, S. Joshi, M. Visitacion, C. Pabón-Peña, S. Hunt, B. Novak, D. Roberts, S. Happe, E. LeProust. 3670W Torrent Variant Caller: Enabling next level of genomic analysis. D. Brinza, Z. Zhang, E. Tsung, A. Joyner, C. Scafe, G. Del Mistro, F. Hyland, E. Beasley, S. Utiramerur. 3671F A next-gen sequencing software workflow for cancer genomics on a desktop computer. M. Keyser, K. Maxfield, T. Schwei, T. Durfee, A. Pollack-Berti, D. Nash, J. Stieren, S. Baldwin, R. Nelson, K. Dullea, J. Schroeder, P. Pinnkas, G. Plunkett III, F. Blattner. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

264 262 POSTER SESSIONS 3672W Strategy for identification, prediction, and prioritization of non-coding variants of uncertain significance in heritable breast cancer. P. K. Rogan, E. J. Mucaki, A. Stuart, N. Bryans, E. Dovigi, B. Shirley, J. H. Knoll, P. J, Ainsworth. 3673F Genomic approach for environmental stress assessment in coral, Scleronephthya gracillimum. S. Woo, S. J. Hwang, S. Yum, J. I. Song. 3674W RNA-seq uncovers the influence of structural variants on transcriptome diversity. E. Ait Yahya Graison, A. Reymond. 3675F Detection of local signals in genomics. D. Siegmund, B. Yakir, N. Zhang. 3676W Gene expression profiling of prokaryotic samples using LIQA WT kit. N. Guha. 3677F In silico identification of microrna-mrna target pairs as potential biomarkers in prostate cancer. J. Billaud, C. Tavano, D. Toburen. 3678W Active learning for phenotype mapping. C. Hsu, J. L. Ambite, Y. Arens, L. Lange, S. Sharma, S. Voinea. 3679F Filtering and annotation of variants that are rare: Methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets. D. J. Park, T. Nguyen-Dumont, F. Odefrey, A. Lonie, M. C. Southey, B. J. Pope. 3680W Accurate, efficient next-generation DNA sequencing for clinical carrier screening. G. J. Porreca, M. Umbarger, C. Kennedy, P. Saunders, B. Breton, N. Chennagiri, J. Emhoff, V. Greger, D. Maganzini, C. Micale, M. Nizzari, C. Towne. 3681F High-throughput CFTR full-gene analysis using Illumina s MiSeq TruSeq custom amplicon technology. J. Radecki, S. Lee, H. Lu, S. Mexal, A. Elliott. 3682W Sensitive detection of minor variants and viral haplotypes using Single-Molecule, Real-Time (SMRT ) sequencing. A. Sethuraman, Y. Guo, M. Brown, J. Toma, A. Newton, W. Huang, M. Sugiyama, C. Petropoulos, M. Mizokami, E. Paxinos. 3683F High-throughput amplicon sequencing using the personal genome machine. J. Boland, D. Roberson, M. Cullen, M. Yeager, K. Jacobs, S. Chanock, V. Lonsberry. 3684W A simple method for improving the limit of detection for capillary electrophoresis DNA sequencing: A comparison of methodologies for KRAS variant detection. C. Davidson, E. Zeringer, K. J. Champion, M.-P. Gauthier, F. Wang, J. Boonyaratanakornkit, J. R. Jones, E. Schreiber. 3685F HaloPlex target enrichment from FFPE tissues. F. Roos, H. Johansson, M. Isaksson, P. Eriksson, L. Forsmark, F. Dahl. 3686W Optimized sample and library preparation of FFPE tumor samples for targeted next-generation sequencing. N. Udar, R. Haigis, E. B. Jaeger. 3687F TargetRich : Targeted sub-exome sequencing. I. A. Vasenkova, K. Jansen Spayd, T. Shvetsova, D. A. Kloske, R. C. Bachmeyer, D. T. Moore, K. E. Varley. 3688W A functional approach to sequence capture analysis of disease pathways. M. Wijdicks, D. Burgess, M. D Ascenzo, M. Brockman, J. Wendt, C. Skalitzky, D. Green, T. Richmond, L. Brown, R. Slezer. 3689F Comparison of two NGS preparation methods for preimplantation and prenatal screening and diagnostics. J. P. Langmore, E. Kamberov, M. Mastronardi, T. Tesmer. 3690W Droplet digital PCR enables reliable discrimination of copy number variation. J. R. Berman, N. Heredia, J. Regan, L. Montesclaros, S. Hodges, C. Troup, G. Karlin-Neumann. 3691F Integrating high-quality DNA sequence capture with MiSeq for clinical sequencing. P. Shen, W. Wang, A. Chi, R. Davis, C. Scharfe. 3692W Improved performance of solution based target enrichment by spike-in of individually synthesized capture probes. G. R. Mehta, Locus Development, Inc. 3693F Accurate multiplexing for clinical next-generation DNA sequencing. M. A. Umbarger, G. P. Porreca. 3694W Enhanced performance of the Illumina MiSeq next-generation sequencing ecosystem. K. Hall, C. Tregidgo, I. Rasolonjatovo, A. Breton, J. Bwanali, A. Jackson, E. Vermaas, D. Bond, M. Siu, C. Bruce, A. Powell, P. Tran, D. McBride, M. Ross. 3695F Single-day, highly multiplexed amplicon sequencing with MiSeq. A. Iyer, A. Tian, K. Chang, E. Guzman, E. Upsall, I. Lewis, M. Won, W. Chang, D. Pokholok, R. Haigis, S. Norberg, M. Ronaghi, K. Gunderson, R. Shen, C. Lin. 3696W WildFire: A simple monoclonal colony generation technology without emulsion PCR. Z. Ma, K. Lao, R. Lee, S. Goyal. 3697F Nextera Enrichment: A new Nextera library prep protocol for targeted enrichment supporting 12- plex pre-enrichment sample pooling. P. McInerney, S. Melnyk, M. Chen, M. Tsan, S. Cooper, H. Grunenwald, M. Lewis, R. Shen, J. Whitacre. 3698W Development of Ion Torrent s 400-base sequencing technology. X. Peng, G. Luo, T. Lincecum, E. Tozer, D. Mazur, K. Aguinaldo, G. Lowman, M. Landes, B. Strohecker, T. Nikiforov, P. Vander Horn. 3699F From tumor to genome sequence with nanogram quantities of DNA: Ultralow target capture and DNA-Seq from FFPE samples. M. Phelan, L. Pham, G. Miyada, S. Kain, T. Cormier. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

265 POSTER SESSIONS W GnuBIO desktop sequencer: Fully integrated DNA preparation sequencing and analysis. T. Raz, A. Aslam, J. Boyce, N. Nerkizian, J. Emhoff, A. Esmall, J. Fanning, H. Ghandour, K. Moulton, P. Stokes, T. Hung, S. Kiani, P. Mary, J. Healy. 3701F Utilizing next-generation sequencing for exome analysis. K. Stangier, F. Ernst, Y. Kumar, T. Paprotka. 3702W Novel enrichment reagent for the study of the human microbiome. F. J. Stewart, G. R. Feehery, E. Yigit, E. T. Dimalanta, B. W. Langhorst, L. M. Apone, P. Liu, D. B. Munafo, C. J. Sumner, J. Bybee, L. M. Mazzola, T. B. Davis, S. Pradhan. 3703F Structural variations identified using solid-state nanodetectors. J. Thompson, B. Bready, D. Dederich, D. Hevroni, M. Jouzi, H.-Y. Lee, D. Lloyd, P. Mukhatira, M. Nadel, J. Oliver, J. Saraidaridis. 3704W Automaton of whole exome and targeted sequencing workflows in a high-throughput lab. M. Zilka, B. Marosy, A. Robinson, J. Gearhart, B. Craig, J. Romm, K. Doheny. 3705F Automated genomic DNA QC ensures high quality data from downstream workflows. M. Gassmann, D. Rabiller, A. Padmanaban, D. McDade- Walker. 3706W Optimization of a mirna expression profiling workflow for ion semiconductor sequencing. T. Guettouche, J. Clarke, A. Andersen, L. Navarro, Y. Cardentey, W. Hulme, G. Bademci, D. Van Booven, D. Hedges, M. Pericak-Vance, J. Gilbert. 3707F Functionalized nanoparticles for effective DNA purification. A. Lai, A. Fu. 3708W POP-ONE : A new sieving matrix for capillary electrophoresis that supports a wide range of applications with a single instrument set-up. J. A. Romero, B. F. Johnson, F. Mercer, J. A. Fisher, D. Rodriguez, S. Hung, M. Wenz, W. Liao, J. Lee. 3709F Automation of the Agilent target enrichment portfolio. M. R. Visitacion, J. Karbowski, F. Roos, B. Arezi, B. Novak, M. Isaksson, A. Giuffre, S. Happe, D. Roberts, E. Leproust, F. Dahl. 3710W Sequencing of complete HLA haplotypes: Resequencing and population studies. M. S. Won, S. Norberg, T. Royce, T. Dunn, T. Mann, N. Nemat-Gorgani, L. A. Guethlein, L. Abi-Rached, L. Tian, K. L. Gunderson, P. J. Norman, M. Ronaghi, P. Parham. 3713F Very high resolution HLA genotyping with the 454 Life Sciences GS FLX system: Simplification of workflow using fusion primers or a four primer system. B. N. Hoglund, C. L. Holcomb, T. C. Williams, D. Goodridge, H. A. Erlich. 3714W Highly multiplexed amplicon preparation for targeted re-sequencing of sample limited specimens using the Ion AmpliSeq technology and semiconductor sequencing. C. Li, B. Kong, D. Joun, I. Casuga, M. Shannon, S. Chen, M. Andersen, D. Ruff, R. Bennett. 3715F A fast solution to NGS library preparation with low nanogram DNA input. P. Liu, G. Lohman, E. Cantor, B. W. Langhorst, E. Yigit, L. M. Apone, D. B. Munafo, C. Sumner, F. J. Stewart, T. C. Evans, E. T. Dimalanta, T. B. Davis. 3716W Pre-capture pooling for targeted enrichment of libraries for next-generation sequencing. B. Marosy, B. Craig, A. Robinson, M. Zilka, K. Hetrick, S. Griffith, H. Ling, J. Romm, K. F. Doheny. 3717F Rapid and accurate semiconductor-based sequencing of human exomes: Workflow and performance on a familial trio. G. Meredith, G. Bee, L. Pickle, M. Dudas, G. Del Mistro, C. Scafe, M. Schorn, J. Miller, M. Minto, B. Reed, G. Fry, J. Gioia, J. Hildebrandt, P. Leong, M. Reddy, K. Atehortua-Khalsa, M. Sedova, S. McLaughlin, V. Sheth, M. Shah, D. Thomas, H. Breu, M. Rhodes, C. Adams, F. Hyland, R. Bennett. 3718W TotalScript: A versatile and robust tool for RNAseq applications. F. Syed, S. Kuersten, A. Radek, R. Vaidyanathan. 3719F Automating high-throughput creation of sequencing libraries. J. Bishop, W. Zhang, D. Mandelman, M. Allen, A. Harris, R. Bennett. 3720W Highest sample quality for molecular analysis through ambient stabilization technologies: Improved genome, transcriptome and proteome analysis from saliva, blood and tissue samples. R. Muller, V. Liberal, S. Wilkinson, A. Stassinopoulos, J. Muller-Cohn. 3721F Increased sensitivity in whole-genome bisulfite sequencing: A novel post-bisulfite conversion library construction method for sub-nanogram inputs. R. Sooknanan, A. Adey, J. Hitchen, J. Shendure, N. Caruccio. 3722W Highly efficient mirna isolation method using solid phase reverse immobilization technology and Biomek automation. B.-N. Lee. POSTER SESSIONS 3711F DNA Sudoku: Hunting rare genetic variations using combinatorial pooling. D. Esposito, D. Golan, B. Blumenstiel, Y. Erlich. 3712W From sample collection to bacterial identification in a single day: 16s rrna sequencing using novel primers on the Ion Torrent Personal Genome Machine. G. S. Watts, M. M. Oshiro, B. W. Futscher, D. G. Armstrong. 3723F mirna extraction from human plasma using high capacity mirna anti-probe magnetic beads. A. Zampetaki, T. Xu, A. V. Vlassov, N. Bernard, M. Mayr. 3724W Single Molecule Real-Time (SMRT ) sequencing of genes implicated in autosomal recessive diseases. Y. Guo, A. Bashir, E. Gould, R. Kornreich, L. Edelmann, T. Brandt, Y. Kasai, J. Chin, E. Paxinos, A. Kasarskis, E. Schadt. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

266 264 POSTER SESSIONS 3725F Detection of rare somatic mutations using a simplified, specific digital PCR workflow with zero dead volume. M. C. Pallas, D. Keys, J. Wilde, J. C. Nurse. 3726W Rapidly profiling thousands of large non-coding RNAs and mrnas from nanogram amounts of total RNA using a single microarray design. A. Bergstrom Lucas, K. Swaminathan, V. Kulkarni, E. LeProust, S. Fulmer-Smentek. 3727F Development of a system based on SMART technology for robust transcriptome library preparation from small quantities of degraded sample. M. Bostick, C. Chang, A. Farmer. 3728W Selective sequencing of mature transcripts in the human brain by cytoplasmic RNA-seq. A. Zaghlool, A. Ameur, J. Halvardson, L. Cavelier, L. Feuk. 3729F Targeted library preparation for Ion Torrent sequencing using HaloPlex PCR. H. Johansson, E. Agne, K. Zettermann, M. Isaksson, P. Eriksson, B. Skarpås, F. Roos, F. Dahl. 3730W SNP genotyping using the Affymetrix Axiom 2.0 platform. M. Shapero, M. Purdy, H. Dong, S. Hsiung, R. Kurapati, J. Law, H. Lee, H. Loi, D. Nguyen, P. H. Wang, A. Yan, C. S. Yu, M. Shirazi. 3731F Information tracking through the use and customization of the Exemplar LIMS in a medium scale sequencing laboratory. B. Craig, D. Newcomer, S. Griffith, B. Marosy, A. Robinson, M. Zilka, K. F. Doheny. 3732W Locus reference genomic sequences: Reference sequences for the reporting of clinically relevant sequence variants. J. A. L. MacArthur, A. Astashyn, E. Birney, R. Dalgleish, P. Flicek, L. Gil, P. Larsson, D. Maglott, W. M. McLaren, R. E. Tully, F. Cunningham. 3733F QC measures for whole exome and targeted sequencing library prep and enrichment in a highthroughput lab. A. Robinson, M. Zilka, B. Marosy, B. Craig, J. Romm, K. Doheny. 3734W Additional annotation enhances biologically relevant sub classification of the Illumina HumanMethylation450 BeadChip array. E. Price, A. Cotton, L. Lam, E. Emberly, C. Brown, W. Robinson, M. Kobor. 3735F Computer-aided detection of defects in Affymetrix CEL data files. D. C. Edwards, A. Konkashbaev, A. Pluzhnikov, N. J. Cox, J. B. Tomblin, K. L. Mueller. W=Wednesday authors will present; T=Thursday authors will present; F=Friday authors will present

267 EXHIBITORS The purpose of the exhibit program is to further the education of registrants by providing an opportunity for exhibitors to present information on products or services relevant to registrants professional interests. In keeping with that purpose, sale and order-taking (entering into a contract of sale) are discouraged on the exhibit floor and other related convention areas. Registrants are encouraged to view the exhibits in the Exhibit Hall of the Moscone Center during the following hours: Wednesday, November 7: Thursday, November 8: Friday, November 9: 10:00 am 4:30 pm 10:00 am 4:30 pm 10:00 am 4:30 pm To assist in locating specific products and services of interest, a product and service index appears immediately after the exhibitor listings. This index is organized alphabetically by products/services, followed by names of exhibiting companies offering the product/services and their respective booth numbers. Booth numbers also follow the names of the exhibiting companies below. ASHG Central Exhibit Hall Booth 913, Lower Level South Visit ASHG Central to address membership questions, view sample publications, apply for membership, and to find out more about ASHG. Also available in ASHG Central will be editors of The American Journal of Human Genetics (AJHG). The AJHG provides a record of research and review relating to heredity in humans, the application of genetic principles in medicine and public policy, and related areas of molecular and cell biology, behavioral, molecular, biochemical, population and clinical genetics. You can also find more information on the city of Boston, Massachusetts, the site of ASHG s 2013 Annual Meeting and register to win a gift from the Boston Convention and Visitor s Bureau! ASHG Central is located in booth #913, in the very center of the Exhibit Hall! It is open during exhibit hours and will have comfortable seating, charging stations, Wi-Fi access, and much more! We hope you stop by to see us while visiting the exhibits and posters. You can also meet ASHG 2012 Board and Program Committee members during poster session hours. Make ASHG Central your destination for networking, plugging in, and for all the ASHG information you need! Social Media Zone Exhibit Hall Booth 1525 The Social Media Zone in the Exhibit Hall is for those who want to explore the world of ASHG and Social Media. Get better acquainted with Twitter and meet your expert users, or get tips so you can become a Twitter user! Catch up on the #ASHG2012 Twitter stream live, recharge your devices, use Wi-Fi, and have insightful face-to-face conversations with your fellow attendees. Stop by to ask questions of and meet three top genomics Tweeps. Three power Twitter users will be in the booth daily from 1:00 pm 1:30 pm: Wednesday, November 7 Thursday, November 8 Friday, November 9 Chris William Daniel EXHIBITORS

268 The Heart of the Exhibit Hall Central Get Answers at the ASHG Membership booth Meet your Editors at the American Journal of Human Genetics booth Learn about Boston, the destination for ASHG 2013 Meet Society Leadership Sit down in our seating area Recharge your electronics Network with colleagues

269 We enable people with life-altering conditions to lead better lives. Come visit us at ASHG Booth 600. US/COR To be as brave as the people we help.

270 We enable people with life-altering conditions to lead better lives. Come visit us at ASHG Booth 600. US/COR To be as brave as the people we help.

271 NOTES

272 NOTES

273 VISIT THE EXHIBITS AND POSTERS Wednesday: 10:00 am 4:30 pm Thursday: 10:00 am 4:30 pm Friday: 10:00 am 4:30 pm

274 40' 10' 20' 20' P OSTER STORAGE 20' 20' 20' 20' 20' 30' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' 30' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' 20' P OSTER STORAGE FASEB/ Career Resources 30' TC WC F&B E nt rance 9m x 14m (43' x 30') Crate Storage 6 ' T ABLE 271 FLOOR PLAN OF EXHIBIT AND POSTER AREA ASHG 62ND ANNUAL MEETING MOSCONE CENTER-SOUTH HALLS ABC EMERGENCY PEDESTRIAN RAMP WOMEN MEN RESTROOMS WOMEN MEN RESTROOMS WOMEN MEN RESTROOMS Exit #3 WF Phones WF PHONES WF PHONES Exit #17 Exit #1 Exit #5 Exit #7 Exit #9 Exit #11 Exit #13 Exit #15 Exit #19 PERS PERS PERS PERS PERS PERS PERS PERS Statistical Genetics/ Genetic Epidemiology Cancer Genetics Statistical Genetics/ Genetic Epidemiology Cardiovascular Genetics Genetci Counseling/ Clinical Testing ELSI Genetics Education Health Services Complex Traits/Polygenic Disorders Psychiatric Genetics, Neurogentics/Neurdegeneration Molecular Basis of Mendelian Disorders Prenatal, Perinatal/ 3026 Reproductive Genetics Molecular Basis of Mendelian Disorders Pharmacogenetics Cancer Genetics Cytogenetics Development Therapy/ Genetic Disorders Metabolic Disorders Genome Structure, Variation/Function Exit # PERS N O N P R O F I T Exit # PERS 326 N 327 O N P R O F I T ' ' POSTER ATTENDANT Exit # PERS ' 30' 20' 20' ENTRANCE 20' 20' ' 40' Exit # PERS ' ' ' 20' ' 20' 50' ASHG Central Membership AJHG Charging Station WiFi Zone ENTRANCE 20' ' 20' Exit # PERS P U 1210 B 1211 L 1208 I 1209 C A T 1204 I O N 1203 S ' 20' Exit # PERS ' Social Media Zone ' ' ' ' POSTER ATTENDANT 20' Exit #16 PERS Employment Boards Clinical Genetics/ Dysmorphology Evolutionary/ Population Genetics Epigentics Bioinformatics/ Technology Exit # PERS Freeman Service Desk Moscone Lead Retrieval Lead Retrieval Sales Office 3m x 5m ES Break Room 3m x 3m Lead Retrieval Room 4m x 4m 3m x 6m 3m x 6m 3m x 6m ES4 ES3 ES2 ES1 3m x 6m SEATING AREA TO UPPER SOUTH LOBBY TO UPPER SOUTH LOBBY TO UPPER SOUTH LOBBY SEATING AREA Exhibitor Lounge FACILITY STORAGE FACILITY STORAGE BUSINESS CENTER Electrical for F&B & Water Cooler LOBBY EXITS

275 EXHIBITORS 273 Exhibitors 23andMe, Inc Tel: URL: 23andMe, Inc. is a leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The vision for 23andMe is to personalize healthcare by making and supporting meaningful discoveries through genetic research. More information is available at Abbott Molecular Tel: / customerservice@abbottmolecular.com URL: Abbott Molecular is a leader in molecular diagnostics for the analysis of DNA, RNA, and proteins. Our instruments and reagents detect pathogens and subtle changes in patients genes and chromosomes, permitting earlier diagnosis, the selection of appropriate therapies and improved monitoring of disease progression. Active Motif, Inc Tel: rubin@activemotif.com URL: Active Motif: Enabling Epigenetic Research. Active Motif is dedicated to developing and delivering innovative cell biology-based research tools and biocomputing resources that help researchers worldwide in their quest to elucidate the function, regulation and interactions of the genes and their encoded proteins. Advanced Analytical Tel: rschmidt@aati-us.com URL: Advanced Analytical Technologies, Inc. Our newest instrument, the Fragment Analyzer Automated CE System, uses capillary electrophoresis for rapid and accurate analysis of Next Gen Sequencing (NGS) fragment libraries by automating the separation of fragments. Additionally, it can be used on RNA and genomic DNA. The system improves workflow and eliminates bottlenecks. Accelrys, Inc Tel: byron.konold@accelrys.com URL: Accelrys (NASDAQ:ACCL), a leading scientific enterprise R&D software and services company, offers industry-leading capabilities in modeling and simulation, enterprise lab management, workflow and automation and data management and informatics supporting improved scientific innovation lifecycle management. Accelrys electronic lab notebooks include the flexible Contur ELN, Symyx Notebook by Accelrys and VelQuest SmartLab. Visit Actelion Pharmaceuticals US, Inc Tel: stephane.dazet@actelion.com URL: Actelion US is a biopharmaceutical company focusing on the discovery, development and commercialization of innovative treatments to serve high unmet medical needs. Zavesca (miglustat) is indicated for the treatment of adult patients with mild to moderate type 1 Gaucher disease for whom enzyme replacement therapy is not a therapeutic option. Affymetrix, Inc Tel: / sales@affymetrix.com URL: Affymetrix powers the Genome Generation to advance our understanding of human biology and disease by providing solutions supporting a wide range of applications for genetic origin discovery, functional characterization, and translational research. Whether you perform genome-wide association studies, targeted genotyping, cancer or constitutional cytogenetics and copy number analysis, wholetranscript profiling, microrna analysis, resequencing, or in situ hybridization, visit us for proven and tailored solutions to your research needs. Agilent Technologies Tel: agilent_inquiries@agilent.com URL: Agilent s portfolio includes the leading SureSelect and HaloPlex Target Enrichment Next-Generation Sequencing Platforms, Gene Expression and Cytogenetic Microarrays, GeneSpring and Cytogenomics Software, qpcr, PCR, Mutagenesis, Cloning, and SureFISH probes. Agilent offers the Bioanalyzer & TapeStation instruments for sample QC, and Automation for optimized workflow productivity. EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

276 274 EXHIBITORS AGRE-Autism Genetic Resource Exchange Tel: URL: The Autism Genetic Resource Exchange (AGRE) is a program of Autism Speaks to advance genetic research in Autism Spectrum Disorders (ASDs). Genetic biomaterials and clinical data are obtained from families that have more than one family member diagnosed with an ASD. The biological samples, along with the accompanying clinical data, are made available to AGRE-approved researchers. Alexion Pharmaceuticals Tel: millerg@alxn.com URL: Alexion Pharmaceuticals is a biopharmaceutical company focused on serving patients with severe and ultra-rare disorders through the innovation, development and commercialization of lifetransforming products. Alexion developed and markets Soliris (eculizumab) as a treatment for patients with PNH and ahus. Alexion is evaluating other potential indications for Soliris and is developing four other innovative product candidates Ambry Genetics Tel: / bneal@ambrygen.com URL: Ambry Genetics redefines diagnostic and genomic services through innovation and ingenuity. Extensive testing menus include: Diagnostic Exome, Oncology, Cardiology, Neurology and Pulmonology panels. Our genomic services focus on next-generation sequencing, exome sequencing, microarrays, targeted enrichment, genotyping and bioinformatics to offer cost effective and research specific solutions. For more information please visit: American Board of Medical Genetics Tel: abmg@abmg.org URL: The American Board of Medical Genetics (ABMG), member board of the ABMS, serves the public and the medical profession by promoting and assuring standards of excellence in medical genetics. ABMG accredits training programs, credentials and certifies practitioners of medical genetics, and fosters life-long learning through maintenance of certification. American College of Medical Genetics and Genomics (ACMG) Tel: acmg@acmg.net URL: To improve health through medical genetics, the American College of Medical Genetics and Genomics will define and promote excellence in medical genetics practice and the integration of translational research into practice; promote and provide medical genetics education; and increase access to medical genetics services and integrate genetics into patient care. American Journal of Human Genetics Tel: ajhg@ajhg.net URL: The American Journal of Human Genetics (AJHG) provides a record of research and review relating to heredity in humans, and the application of genetic principles in medicine and public policy, and related areas of molecular and cell biology, behavioral, molecular, biochemical, population and clinical genetics. American Society of Human Genetics Tel: /(866) HUMGENE society@ashg.org URL: ASHG Central is located in booth #913, the very center of the Exhibit Hall! It is open during exhibit hours and will have comfortable seating, charging stations, Wi-Fi access, and much more! We hope you stop by to see us while visiting the exhibits and posters. You can also meet ASHG 2012 Board and Program Committee members during poster session hours. Make ASHG Central your destination for networking, plugging in, and for all the ASHG information you need! Amicus Therapeutics, Inc Tel: info@amicustherapeutics.com URL: Amicus Therapeutics is a biopharmaceutical company at the forefront of developing therapies for rare and orphan diseases. The company is developing orally administered, small molecule drugs called pharmacological chaperones, a novel, first-in-class approach to treating a broad range of diseases including lysosomal storage disorders and diseases of neurodegeneration. = First time exhibitor Shaded = Meeting Supporter

277 EXHIBITORS 275 AnaSpec Inc, Eurogentec Group Tel: / URL: AnaSpec, EGT Group, a leading provider of integrated proteomic and genomic solutions, offers expertise in peptides, antibodies, assay kits, fluorescent dyes, unusual amino acids and qpcr. We have qpcr mastermixes plates and tubes for every Real Time PCR platform plus excellent technical support, as well as housekeeping genes primers/probes/assays. Applied Spectral Imaging, Inc Tel: / sales@spectral-imaging.com URL: Applied Spectral Imaging makes patient care better through advanced biomedical imaging. ASI offers cytogeneticists and pathologists accurate analysis by providing state- of-the-art diagnostic aids. ASI has over 2,500 systems deployed worldwide, offices in the U.S., Europe and Asia as well as a global network of over 50 distributors. Applied StemCell, Inc Tel: / info@appliedstemcell.com URL: TARGATT Gene Targeting in Cell Lines: Applied StemCell Inc. (ASC) is a fast growing biotechnology company with its headquarter based in Menlo Park, California. With solid expertise and extensive experience in stem cell and transgene technologies, ASC focuses on the application of new technologies for stem cell and transgenic communities. Based on Proprietary Technologies, we offer a customized Fast & Site- Specific gene targeting service for any cell line for your projects, e.g.gene Editing, Gene Modification, Cell- Based Assays and Drug Screening (HTP Screening). Ariosa Diagnostics Tel: / ARIOSA ClientServices@ariosadx.com URL: Ariosa Diagnostics, Inc., is a molecular diagnostics company committed to providing safe, highly accurate and affordable prenatal tests for maternal and fetal health. Led by an experienced team, Ariosa is using its proprietary technology to perform a directed analysis of cell-free DNA in blood. Ariosas simple blood test equips pregnant women and their healthcare providers with reliable information to make decisions regarding their health, without creating unnecessary stress or anxiety.the company began operations in 2010 and is headquartered in San Jose, Calif. ARUP Laboratories Tel: / christina.m.sellers@aruplab.com URL: ARUP Laboratories is a leading national reference laboratory offering more than 3,000 tests and test combinations, ranging from routine screening tests to esoteric molecular and genetic assays. ARUP Laboratories Genetics Division offers testing in all areas of genetics, including biochemical, cytogenetics, microarray, and next-generation sequencing. ASHG/FASEB Career Resources Tel: clientserv@jobtarget.com URL: FASEB s Career Resources are designed to provide career information and facilitate employment connections in the life sciences community. These resources embody new concepts, technologies, and services, as well as the best of our FASEB Placement Service. Our main focus is to help develop biomedical careers, so whether an undergraduate, postgraduate, postdoctoral, seasoned scientist, or an employer seeking to hire top-notch scientists and professionals, the resources and tools found here are designed to help. Asper Biotech Ltd Tel: info@asperbio.com URL: Asper Biotech is a genetic testing company specialized in retinal disorders, reproductive medicine and oncology. Asper Ophthalmics testing portfolio includes a comprehensive panel of tests targeting hereditary eye disorders. Asper Oncogenetics offers tests to determine predisposition to various cancers. Asper Reprogenetics provides tests for reproductive problems and prenatal diagnostics. Asuragen, Inc Tel: / jbourland@asuragen.com URL: Asuragen is a fully integrated molecular diagnostic company using the genome to drive patient management. We offer diagnostics products and clinical laboratory services focused on innovative PCR-based approaches for Fragile X testing (FMR1 gene), AmplideX and Xpansion Interpreter for detection of methylation status and determination of AGG sequence detection (number and location). To learn more, visit EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

278 276 EXHIBITORS Athena Diagnostics Tel: / URL: Athena Diagnostics is a leader in diagnostic testing for neurological diseases. Athena, a division of Quest Diagnostics, is dedicated to providing neurologists and other physicians and specialists with insights that can improve patient health. Athena provides the most comprehensive test menu and intellectual property portfolio for neurological, endocrine, and renal conditions through more than 350 diagnostic tests. AutoGen, Inc Tel: / info@autogen.com URL: The AutoGen FLEX STAR is the finest automated system available for extracting DNA from large volumes of whole blood, cells and saliva. The FLEX STAR features positive sample tracking and all the sample processing capacity you will need for real productivity. In addition, its outstanding reliability makes it a system you can count on day in and day out. Backed by AutoGen s best in the industry customer support, the FLEX STAR provides you with tools you need to PREP WITH CONFIDENCE. Axeq Technologies Tel: / jbae@axeq.com URL: Axeq Technologies is dedicated to providing a premier level of Next-Generation Sequencing services to researchers and scientists worldwide. Axeq represents a high level of dedication to quality of work, customer services and scientific integrity. Axeq also embraces the highest standard U.S. and European business practices and ethical standards. Baylor College of Medicine, Medical Genetics Laboratories Tel: / medgen@bcm.tmc.edu URL: Baylor College of Medicine s, Medical Genetics Laboratories offer a broad range of diagnostic genetics tests including DNA diagnostics, sequencing, cytogenetics, FISH diagnostics, cancer cytogenetics, chromosomal microarray analysis, whole exome sequencing, biochemical genetics, and mitochondrial DNA analysis. Please visit our booth for more information. BC Platforms Ltd Tel: info@bcplatforms.com URL: BC Platforms provides advanced data management solutions for GWAS, SNP and next-generation sequencing projects. Combine genotypes and phenotypes to create efficient workflows for highperformance, distributed data analysis using over 30 academic software programs. A web-interface provides multiple users parallel access to the database for secure data analysis and results sharing. Beckman Coulter, Inc Tel: URL: BGI Tel: info@bgiamericas.com URL: BGI, the worlds largest genomics organization, provides comprehensive sequencing and bioinformatics services for medical, agricultural and environmental applications. With cutting-edge technologies and an experienced team that has generated over 250 publications in top tier journals, BGI delivers rapid, cost-effective, and high quality results that enable researchers to achieve scientific breakthroughs. Biobase Corporation Tel: / info@biobase-international.com URL: BIOBASE is a leading provider of manually-curated databases for molecular diagnostics. The Human Gene Mutation Database (HGMD ) and Genome Trax offers well-structured data, assembled by qualified experts, organized in an easily searchable manner that enables researchers to make clinical interpretations of data arising from next-generation sequencing efforts. BioChain Institute Inc Tel: / info@biochain.com URL: BioChain provides high quality processed bio-sample products and analysis services for translational medicine, clinical product research and development. BioChains products and services are available for DNA and RNA sequencing, PCR and RT-qPCR, gene expression, DNA/RNA purification, protein extraction/ purification, and expression analysis. = First time exhibitor Shaded = Meeting Supporter

279 EXHIBITORS 277 BioDiscovery, Inc Tel: URL: BioDiscovery develops, markets and sells advanced software solutions for the analysis of data from high-throughput microarray and next-generation sequencing technologies. BioDiscovery provides a full line of modular software packages built for power, versatility, and efficiency spanning image analysis, microarray data processing, and advanced analysis of CNV, expression, and methylation data. BioDot, Inc Tel: biodot@biodot.com URL: BioFire Diagnostics Tel: / cameron.gunary@biofiredx.com URL: Idaho Technologies is now BioFire Diagnostics. BioFire Diagnostics has a 22 year history of PCR innovation. Our LightScanner Hi-Res Melting systems and LCGreen Plus reagents will take your hypotheses to publications more efficiently. LightScanner systems provide the best quality, most easily accessed Hi-Res Melting data on the market. Stop by booth #719 and see why! Bioline USA Inc Tel: / info.us@bioline.com URL: Bioline is ISO 9001:2008 certified and one of the worlds few manufacturers of dntps. Bioline is able to offer bulk, custom and OEM dntp services. We have developed and manufacture more than 300 reagents and kits for molecular biology, cell analysis and nucleic acid and protein separation and purification. BioMarin Pharmaceutical Inc Tel: kward@bmrn.com URL: BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. Approved products include the first and only enzyme replacement therapies for MPS I and MPS VI and the first and only FDA-approved medication for PKU. Visit to learn more. BioMarin Scientific Exchange Tel: kward@bmrn.com URL: BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. Approved products include the first and only enzyme replacement therapies for MPS I and MPS VI and the first and only FDA-approved medication for PKU. Visit to learn more. BioNano Genomics, Inc Tel: info@bionanogenomics.com URL: BioNano Genomics platform provides unprecedented understanding of whole-genome biology. The technology enables highly parallel visualization of extremely long DNA molecules at single-molecule scale, capturing biologically meaningful positional information. By retaining architectural context, the data facilitates more complete genome assembly and broad detection of structural variants. Bio-Rad Tel: /800-4-BIORAD lsg.orders.us@bio-rad.com URL: Providing instrumentation and reagents to support life science research. Depend on Bio-Rad for tools, technologies and expertise to enable genomic and proteomic analysis. Products for droplet digital PCR, conventional and real-time PCR, SPR, transfection, RNAi, biomarker expression profiling, xmap technology, cancer biomarkers, expression proteomics, electrophoresis, blotting-systems, chromatography, imaging. BioReliance Tel: / genomicservices@bioreliance.com URL: BioReliance Genomics: the premier service provider supporting clinical trials from Phase I to post market monitoring. We apply over 60 years of regulatory and validation expertise to novel highly-multiplexed detection technologies and bioinformatics for RNA expression analysis and targeted human genotyping, including NGS and the Illumina VeraCode ADME core panel. EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

280 278 EXHIBITORS BioTeam Inc Tel: URL: BioTeam is a unique consulting practice dedicated to delivering objective, diagnostic solutions to our clients using technology to solve complex genetic problems. BioTeam has compiled our best practices for managing sequencing data into a simple and cost-effective solution called MiniLIMS. MiniLIMS the next-generation LIMS you can afford. BioTechniques Tel: christine.briglia@informausa.com URL: BioTechniques, the international journal of life science methods, provides open access to first-quality, peer-reviewed papers on laboratory techniques and protocols. Now in its 53rd volume, BioTechniques has over 80,000 print subscribers worldwide. The journal augments its peer-reviewed content with feature articles and topic-specific supplements. Visit for more details. BlueGnome Limited Tel: / info@cambridgebluegnome.com URL: BlueGnome ( works with clinical and scientific communities to design, manufacture and supply microarray-based products for the investigation of genetic disorders. Products are supplied to hospitals, genetics centers and IVF clinics worldwide where they are used to investigate developmental delay, specific cancers and an associated list of known genetic syndromes. Boreal Genomics Tel: / info@borealgenomics.com URL: Boreal provides systems and laboratory services for high sensitivity profiling of cancer mutations from plasma and low tumor content samples. Cartagenia Tel: info@cartagenia.com URL: Cartagenia provides reliable software allowing genetic labs and clinicians to perform clinically relevant analyses efficiently. With BENCH lab CNV for cytogenetics and BENCH lab NGS for sequencing, your lab technicians, directors, counselors and scientists have the right tools and knowledge at their fingertips supporting variant triage and automating lab reporting. Cell Press Tel: / usinfo-f@elsevier.com URL: Cell Press publishes the American Journal of Human Genetics, the premier journal of the American Society of Human Genetics. Visit booth #1212 to learn more about this exciting partnership and ASHG member discounts on journals, including Cell, Molecular Cell, and Cell Stem Cell. New for 2012, Cell Reports an open access journal spanning the entire life sciences spectrum. Center for Inherited Disease Research (CIDR) Tel: kimkutchins@jhmi.edu URL: The Johns Hopkins University Center for Inherited Disease Research (CIDR) provides high quality next-generation sequencing and genotyping services to investigators working to discover genes that contribute to common disease. CIDR offers custom targeted and whole exome sequencing services as well as GWAS, custom, epigenetic and linkage genotyping. Centogene AG Tel: office@centogene.com URL: CENTOGENE, The Rare Disease Company, is a global leader in the field of molecular diagnostics. Extremely short turn-around-times, analysis and interpretation by medical experts is guaranteed. CENTOGENE provides prenatal analysis, newborn screening, and the analysis of biomarkers for metabolic diseases. CENTOGENE works with international partners developing new orphan drugs. = First time exhibitor Shaded = Meeting Supporter

281 EXHIBITORS 279 chemagen from PerkinElmer Tel: / URL: chemagen is a leading supplier of automation and reagents for fast and reliable magnetic bead based DNA and RNA extraction for sample volumes from 10 ul to 10 ml for blood, tissues, saliva, bacteria, food, PCR products, etc. The one instrument performs all functions with fast processing, unmatched sample volume range and robust chemistry. City of Hope Clinical Molecular Diagnostic Laboratory Tel: x 64401/ mdl@coh.org URL: The City of Hope Molecular Diagnostic Laboratory (MDL) specializes in clinical genetic testing services for cancer predisposition, coagulopathies, connective tissue disorders, muscular dystrophies, neuropsychiatric disorders and pharmacogenetics. For more up-to-date information about our tests, please visit our website at Children s Hospital of Philadelphia Tel: RobertsJ1@ .chop.edu URL: Founded in 1855, The Children s Hospital of Philadelphia is the birthplace of pediatric medicine in America. A passionate spirit of innovation has driven this renowned institution to pursue scientific discovery, establish the highest standards of care, and deliver diagnostic services that help children around the world lead happier, healthier lives. CIHR Institute of Genetics Tel: URL: The CIHR Institute of Genetics supports research on the human and model genomes and on all aspects of genetics, basic biochemistry and cell biology related to health and disease, including the translation of knowledge into health policy and practice, and the societal implications of genetic discoveries. Cincinnati Children s Hospital Medical Center Tel: askthelab@cchmc.org URL: clinicallab The clinical laboratories at Cincinnati Children s Hospital Medical Center offer quick, convenient diagnostic laboratory services designed and interpreted by world renowned clinical experts. We have over 400 specialty tests, and have specialty programs and expertise in molecular diagnostics, cardiology, immunodeficiencies, and cytogenetics. CLC bio Tel: alykkebak@clcbio.com URL: CLC bio is the world s leading bioinformatics solution provider and the only one that provides both desktop and server software seamlessly integrated and optimized for best performance. By developing their own proprietary algorithms, CLC bio scientists have successfully parallelized the data calculations to achieve remarkable improvements in speed over comparable solutions. Clontech Laboratories, A Takara Bio company Tel: leslie_miller@clontech.com URL: Reliable and innovative research reagents from Takara Bio and Clontech. Our products are trusted by scientists worldwide for applications from gene expression analysis using qpcr to high-fidelity PCR, protein expression, and epigenetics. Move your research forward with PrimeSTAR GXL and Max polymerases, TaKaRa Ex Taq and LA Taq, and PrimeScript RTase. Cold Spring Harbor Laboratory Press Tel: mazzullo@cshl.edu URL: Cold Spring Harbor Laboratory continues to shape contemporary biomedical research and education with programs in cancer, neuroscience, plant biology, and quantitative biology. Its Meetings & Courses program hosts more than 8,000 international scientists each year and its Press publishes books, journals, and electronic media for scientists, students, and the general public. EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

282 280 EXHIBITORS Complete Genomics, Inc Tel: URL: Through its pioneering sequencing-as-a-service model, Complete Genomics provides researchers and clinicians the most accurate whole human genomes. The ease of use and power of Complete s advanced informatics and analysis provide genomic information needed to understand, prevent, diagnose and treat diseases. Connective Tissue Gene Tests Tel: inquiries@ctgt.net URL: CTGT is committed to providing the broadest range of molecular diagnostic tests for inherited connective tissue disorders about 200 tests and still growing. CTGT has high test sensitivity, fast turnaround time, expert advice and superior customer service. Coriell Institute for Medical Research Tel: / ccr@coriell.org URL: Coriell Institute for Medical Research is an independent, non-profit biomedical research center. Founded in 1953, Coriell is one of the world s leading biobanks, distributing biospecimens and offering custom research and biobanking services to scientists. Coriell examines the utility of genetic information in personalized medicine through its CPMC research study. Covaris Inc Tel: info@covarisinc.com URL: Covaris provides advanced sample preparation systems for life and analytical science. Covaris sample prep technologies support a wide variety of applications including NGS, ChIP, and proteomics. Our patented Adaptive Focused Acoustic (AFA ) technology is the industry standard for DNA shearing and is used by major genome centers and academic institutions worldwide. Cytocell Ltd/Rainbow Scientific, Inc Tel: / info@rainbowscientific.com URL: Cytocell celebrates its 20th year as a leading provider of innovative DNA screening solutions for the accurate detection of human genetic diseases. Cytocell manufactures complete ranges of DNA FISH probes for use in clinical cytogenetics. Please review our updated list of FISH probes for hematological malignancies including our new full line of OncoSight Solid Tumor FISH probes. Check out regarding their custom FISH probe-making services. Cytonet LLC Tel: joel.hare@cytonetllc.com URL: Cytonet is a biotechnology company with sites in Germany and Durham, NC USA. Cytonet develops cellbased products for liver diseases. Liver cells from nontransplantable livers are recovered and subsequently transplanted into children with genetic disorders in approved Phase-II clinical studies. Donated livers are provided by 50+; US-OPO and Tissue Banks. Data Unlimited International, Inc Tel: contact@duii.com URL: Starfruit Technologies is Laboratory Information Management System (LIMS) & QA software/ database/computer/barcode for genetic and immunology labs enables sample, patient, biorepository, billing databases; mutation, variant, disease, genotype databases, SNP databank; instrument interface, barcode, QA/QC; worksheet, workflow, inventory, protocol, image; epidemiological frequency, trend, geographical distribution, disease/ disorder susceptibility, reporting; 21CFR11, CAP, CLIA, HIPPA, PHI. Diagenode Inc Tel: custsupport.na@diagenode.com URL: Diagenode is an international life science company that develops and commercializes innovative instruments, reagents and systems for life science research. Our goal is to develop cutting-edge products that advance research in the rapidly evolving field of epigenetics. We specialize in offering a broad range of chromatin immunoprecipitation and DNA methylation products. = First time exhibitor Shaded = Meeting Supporter

283 EXHIBITORS 281 DNA Genotek Tel: / URL: DNA Genotek is focused on providing high-quality biological sample collection, stabilization and preparation products for genetic-based applications including molecular diagnostics and research of both host and microbial DNA or RNA in oral samples. The company s Oragene product line provides reliability and ease-of-use which has resulted in rapid worldwide adoption by top tier health institutions. DNAnexus, Inc Tel: info@dnanexus.com URL: DNAnexus is a pioneering, collaborative tool for the analysis, visualization, and management of genomic data. DNAnexus foundation is a scalable, cloud-based platform that is fostering an expanding ecosystem of application developers and researchers that enables faster data delivery and accelerates the interpretation of genomic data in research and clinical applications. Elsevier Tel: / usinfo-f@elsevier.com URL: Explore Elsevier s high impact genetics journals and books. Learn the latest in research news from journals such as The American Journal of Human Genetics. Our exciting books on display include Our Genes, Our Choices, Genomic and Personalized Medicine and many more. Discover our electronic research and solution tools via SciVerse ScienceDirect. Embi Tec Tel: / inquiry@embitec.com URL: Embi Tec manufactures and distributes innovative, cost and space effective lab equipment such as the RunOne Electrophoresis System, MultiCaster Systems, ViewOne LabLite (miniature white light box), LightOne Illuminators for setting up and cherry-picking 96- or 384-well plates, PrepOne Sapphire (non-uv, blue light box), PrepOne ImageCatcher and AnyBlood Direct PCR buffers. DNASTAR, Inc Tel: / info@dnastar.com URL: DNASTAR has pioneered development of desktop computer sequence assembly and analysis software to increase life scientists productivity for over 25 years. DNASTAR s products include Lasergene software for traditional sequence analysis and several other integrated tools for next-generation DNA and RNA sequence assembly and analysis and protein sequence and structure visualization. EdgeBio Tel: / info@edgebio.com URL: EdgeBio offers next-generation sequencing services. From experimental design to bioinformatics, EdgeBio is the perfect solution for all your sequencing needs. EdgeBio also sells kits for sequencing reaction cleanup, PCR purification, and plasmid purification, as well as competent cells. EMC Isilon Tel: info@isilon.com URL: EMC Isilon is the global leader in scale-out storage. We deliver powerful yet simple solutions for enterprises that want to manage their data, not their storage. Isilon s products are simple to install, manage and scale, at any size. Emory Genetics Laboratory Tel: / dkauke@emory.edu URL: Emory Genetics Laboratory (EGL) is a worldwide leader in rare disease clinical genetic testing. Associated with Emory University s prestigious Department of Human Genetics in its School of Medicine, EGL s biochemical, cytogenetic, and molecular laboratories perform integrated and comprehensive testing including whole exome sequencing, prenatal microarrays and inherited metabolic disorder testing. EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

284 282 EXHIBITORS Enlis Genomics Tel: URL: Overall Winner of the 2011 Illumina Data Excellence Award! Genome analysis made simple. Our Genome Research software is the easiest way to analyze tens or even hundreds of human genomes - all on a standard desktop or laptop computer. Sign up for a free trial today. Epicentre (an Illumina company) Tel: / techhelp@epicentre.com URL: Epicentre (an Illumina company) offers innovative, time-saving kits for gene expression studies. Featured are the ScriptSeq and TotalScript kits for rrna-free RNA-Seq library sample prep in 1 day from any RNA sample. Kits for genomic DNA purification and microarray target labeling will also be highlighted. EpigenDx Tel: / info@epigendx.com URL: EpigenDx is a genomic and epigenomic research company that specializes in disease biomarker discovery and molecular diagnosis. The company provides the products and services for DNA methylation analysis and quantitative mutation analysis. EpigenDx also provides products and laboratory services for scientific researchers from academic, government and industrial communities. Epigentek Group Inc Tel: info@epigentek.com URL: Epigentek is the leading provider of epigenetic assay kits, antibodies, reagents, and services through a complete and systematic approach. It is the first and only company to specialize exclusively in epigenetics and has pioneered the commercialization of many technologies commonly used today in DNA methylation, histone modification, and chromatin studies. European Human Genetics Conference Tel: fvanlaer@rose-international.com URL: The European Human Genetics Conference 2013 will be held in Paris, France, from 8-11 June Please visit our booth for more information and ESHG membership application. To view the conference program, details on abstract submission and for online registration for the conference: eshg2013 Exiqon Tel: / lac@exiqon.com URL: Exiqon is a leading supplier of microrna research tools based on our proprietary LNA technology. Researchers around the world are using our products to make groundbreaking discoveries about the correlation between gene activity and the development of cancer and other diseases. Exiqon Services offers expertise in microrna profiling and biomarker discovery from clinical samples. Expression Analysis Tel: / kmichailo@expressionanalysis.com URL: EA provides cutting-edge genomic sequencing, gene expression, genotyping, and bioinformatics services to global pharmaceutical companies, diagnostic test developers, government agencies, and academic labs. EA conducts every project under clinicalgrade quality control and offers the bioinformatics expertise and computational infrastructure to process enormous volumes of genomic data with consistency and speed. FASEB Tel: khicks@faseb.org URL: Celebrating its Centennial, 100 Years of Advancing the Life Sciences, FASEB is recognized as the policy voice of biomedical researchers, representing 26 scientific societies (over 100,000 members); the nations largest coalition of biomedical researchers. Products/services include: The FASEB Journal, Science Research Conferences, MARC travel awards, and Society Management Services. = First time exhibitor Shaded = Meeting Supporter

285 EXHIBITORS 283 Fluidigm Corporation Tel: / URL: Fluidigm develops and manufactures innovative microfluidics solutions for life science systems. These solutions consist of its integrated fluidic circuit (IFC) technology, with instruments that simplify workflow and improve accuracy for genomics research applications, including single-cell gene expression, high-throughput SNP genotyping and next-generation sequencing. Geisinger Health System Tel: / URL: Geisinger Health System serves nearly 3 million people in Pennsylvania through a network of 4 hospitals, 38 community practice sites and over 900 Geisinger physicians. Geisinger has an institutional commitment to research and a focus on personalized medicine, and has been nationally recognized for research, innovative practices and quality care. GeneInsight Tel: mband@partners.org URL: GeneInsight Suite is an IT platform, developed at Partners HealthCare, to streamline the analysis, interpretation and reporting of genetic test results and facilitate delivery of test results to treating clinicians. The application consists of a laboratory knowledge management application, a clinician access application and a network infrastructure that enhances communication. Gene Link, Inc Tel: / support@genelink.com URL: Gene Link is a leading supplier of premium custom complex modified oligonucleotides, sirna, RNA, fluorescent probes and other molecular biology products. Gene Detection System product lines for triple repeat disorders e.g. Fragile X, Huntington s disease, Myotonic Dystrophy, FRDA and FRAXE. Gene Link services include custom probe and sirna design. Gene Codes Corporation Tel: / info@genecodes.com URL: Gene Codes Corporation develops Sequencher, DNA sequence analysis software for traditional and next-generation DNA data sets. Geneticists around the world rely on Sequencher s intuitive user interface, speedy alignment algorithms, and powerful SNP discovery tools to guide them towards results. Stop by to see our latest release of Sequencher. GeneDx Tel: / genedx@genedx.com URL: GeneDx tests for more than 350 rare Mendelian disorders using DNA sequencing and deletion/ duplication analysis of the associated gene(s), and offers oligonucleotide microarray-based testing and next-generation sequencing-based panels for inherited cardiac disorders, mitochondrial disorders, and neurodevelopmental disorders. GeneDx offers MFM and Ob-Gyn diagnostics including prenatal/ maternal risk assessment, and carrier testing. GeneTests Tel: newgr@u.washington.edu URL: GeneTests ( provides medical genetics information for physicians, clinicians and researchers pertaining to diagnosis, management, and genetic counseling for heritable disorders through the expert-authored, peer-reviewed publication GeneReviews, an international genetic testing Laboratory Directory and Clinic Directory, and educational materials. Funded by contract from NIH, sponsored by University of Washington, Seattle. Genetic Engineering & Biotechnology News Tel: smccarthy@bioconferences.com URL: Genetic Engineering & Biotechnology News (GEN) is the longest-running, most widely read, and largest circulated global biotechnology news publication. Published 21 times a year and recently redesigned to focus on Biobusiness, OMICS, Drug Discovery, Bioprocessing, and Translational Medicine, GEN reports on key news developments and technology trends in the bioindustry. EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

286 284 EXHIBITORS Genetics Society of America/G3 - Genes, Genomes, Genetics Tel: / GENE society@genetics-gsa.org URL: g3journal.org The Genetics Society of America is a scientific membership society of 5,000 researchers and educators. GSA established the open-access peerreviewed journal G3: GENES GENOMES GENETICS as a forum for the publication of high-quality foundational research, including articles on useful genetic and genomic information and datasets in human genetics. Gene Tools, LLC Tel: custsupport@gene-tools.com URL: Gene Tools manufactures Morpholino oligos for blocking translation, modifying splicing or inhibiting mirna activity. Morpholinos are used in cell cultures, embryos or, as Vivo-Morpholinos, in adult animals. Morpholinos are effective, specific, stable and nontoxic. Backed by PhD-level customer support, Gene Tools designs and synthesizes Morpholinos and offers cytosolic delivery options. Genformatic Tel: info@genformatic.com URL: Genformatic provides comprehensive genome sequence analysis services, including optimized sequence alignment and variant identification, variant annotation and interpretation of phenotypic implications, and production of a prioritized list of probable variant impacts upon health. Genformatic can process one genome or hundreds of genomes in parallel for research investigations or clinical applications. Genial Genetic Solutions/Rainbow Scientific, Inc Tel: / info@rainbowscientific.com URL: Genial Genetic Solutions offers the robotic MultiPrep Genie and Cell Sprint Harvesting systems for both surface culture and suspension culture harvesting. Our ProCell cytogenetic reagents yield high quality cytogenetic preparations. Our suite of genetic database software products including Shire, igene and ipassport QMS, offer integrated multi-discipline genetic patient management with excellent auditing and document/process control capabilities. GenoLogics Tel: / info@genologics.com URL: GenoLogics is a leading provider of LIMS software specifically designed for next-generation omics labs. The GenoLogics LIMS delivers end-to-end management of genomics laboratory samples, tests and results. GenoLogics is uniquely qualified to meet information management needs of the nextgeneration laboratory by delivering a LIMS that is scalable, adaptable and useable. Genomatix Software Tel: / grant@genomatix.com URL: Genomatix is a computational biology company known for its excellence in science. We have accumulated extensive data content and developed multiple software applications for understanding gene regulation for 15+ years. Leveraging this history of excellence in systems biology, Genomatix now provides a comprehensive, integrated analysis solution for all NGS applications. Genzyme, a Sanofi Company Tel: lena.ortins@genzyme.com URL: Genzyme has pioneered the development and delivery of transformative therapies for patients affected by rare and debilitating diseases for over 30 years. With a focus on rare diseases and multiple sclerosis, we are dedicated to making a positive impact on the lives of the patients and families we serve. Visit GnuBIO, Inc Tel: info@gnubio.com URL: GnuBIO is a pioneer in the field of scalable DNA sequencing technology. The GnuBIO technology is an emulsion-based microfluidic technology. GnuBIO s platform seamlessly incorporates all DNA sequencing functions into one single system (including DNA enrichment, amplification and sequencing), with a single user interface producing results in hours versus days. = First time exhibitor Shaded = Meeting Supporter

287 EXHIBITORS 285 Golden Helix, Inc Tel: URL: Golden Helix helps genetic research groups working with large-scale DNA-sequencing or microarray data overcome the frustration and challenges of bioinformatic roadblocks. By empowering researchers with highly effective software tools, world-class support, and complementary analytic services, we refute the notion that analysis has to be difficult or time consuming. Greenwood Genetic Center Tel: / URL: The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational resources, and research in the field of medical genetics. Our laboratory offers biochemical, cytogenetic, and molecular diagnostic testing. We strive to Give Greater Care by combining state-of-the-art diagnostics with exceptional service. Hamilton Company Tel: / kcavallaro@hamiltoncompany.com URL: Hamilton Robotics is dedicated to the design and manufacture of automated liquid handling workstations. Key to our products is our air displacement pipetting and monitoring technology and software controlling our systems. Our workstations and software serve as a common high precision and flexible base upon which to provide automated solutions. Human Variome Project Intl. Ltd Tel: rania@variome.org URL: The Human Variome Project is an international consortium of individuals who are working towards reducing the burden of genetic disease. The aim of the Human Variome Project is to ensure that all information on genetic variation can be collected, curated, interpreted and shared freely and openly with the world. Illumina, Inc Tel: / info@illumina.com URL: Illumina provides innovative sequencing and array-based solutions for genotyping, copy number variation analysis, methylation studies, gene expression profiling, and low-multiplex analysis of DNA, RNA, and protein. We also provide tools and services that are fueling advances in consumer genomics and diagnostics, paving the way for molecular medicine and ultimately transforming healthcare. Incom, Inc Tel: dar@incomusa.com URL: Incom is a manufacturer of glass and polymer fused fiber optic faceplates and tapers, as well as polymer and glass micro structures. We have participated in the development of microwell arrays for genome sequencing, large-area faceplates and tapers for X-ray applications, and microcapillary arrays for TOF and neutron detection. Hitachi Solutions America Ltd Tel: rlynde@miraibio.com Hitachi Solutions and Hitachi High Technologies have partnered to leverage breakthrough technologies to create the secure infrastructure needed to allow validated genomic data and related phenotypic data to be combined. This new platform will give users the ability to mine and view data in novel ways to make new discoveries. Ingenuity Systems, Inc Tel: hbullock@ingenuity.com URL: Ingenuity Systems enables researchers to model, analyze and understand complex biological systems foundational to human health and disease. Products leverage the Ingenuity Knowledge Base and include IPA, Ingenuity ireport, Ingenuity Variant Analysis, Ingenuity Analysis Services, and content and custom services for pharmaceutical, biotech and academic organizations. Learn more at EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

288 286 EXHIBITORS Innopsys Tel: URL: Offering the InnoScan 900 and InnoScan 900 fluorescence microarray scanners with optional autoloaders, Innopsys empowers users with the fastest reading times and highest resolution on the market. Innoscan scanners use Mapix, Innopsys proprietary image acquisition and analysis software, giving customers a user-friendly interface and the fastest spot-finding on the market. IntegenX Inc Tel: information@integenx.com URL: IntegenX Inc. produces automated sample processing systems and reagent kits for the life sciences and applied sciences markets. Our Apollo 324 System automates next-generation library preparation for all major NGS platforms. GenTegra reagents enable ambient temperature storage of RNA and DNA. Our products dramatically reduce process time and expense. Integrated DNA Technologies, Inc Tel: / custcare@idtdna.com URL: Integrated DNA Technologies (IDT) is a leader in custom biology for the research and diagnostic life science market and serves academic research, biotechnology, and pharmaceutical development. Products include DNA oligos, qpcr assays, and custom gene synthesis to support many applications such as DNA sequencing, SNP detection, and functional genomics. Integrated Genetics/LabCorp Tel: / Anders@labcorp.com URL: Integrated Genetics is a leading provider of reproductive genetic testing services driven by its commitment to physicians and their patients. With an expansive menu of complex tests and technologies, Integrated Genetics spans the continuum of care from prenatal diagnostics to the largest commercial genetic counseling network in the laboratory industry. Interactive Biosoftware Tel: contact@interactive-biosoftware.com URL: Interactive Biosoftware is the creator of Alamut, the original mutation interpretation software used by leading genetic scientists around the world. Interactive Biosoftware is changing genetic diagnostics and research by simplifying the mutation interpretation process, while saving scientists time, improving outcome quality and enhancing productivity. Ion Torrent Tel: sales@iontorrent.com URL: Life Technologies Corporation (NASDAQ: LIFE) is a global biotechnology company dedicated to moving science forward to improve life in meaningful ways for everyone. Our premier brands are the most cited, most trusted in the life sciences industry: Invitrogen, Applied Biosystems, Gibco, Molecular Probes, Novex, TaqMan, Ambion, and Ion Torrent. Irvine Scientific Tel: / amcgrath@irvinesci.com URL: Irvine Scientific is a leader in the design, manufacture and distribution of cell culture media and medical devices. Our goal is to develop and provide unsurpassed products and services for customers in biopharmaceutical, human reproductive, regenerative medicine, cytogenetics and research settings. We support a diverse cross section of the medical industry, from large scale industrial bioprocessing to IVF clinics and research in medically oriented areas. JAMA Network Tel: millette.jackson-bates@ama-assn.org URL: The JAMA Network is a consortium of peer-reviewed print and online medical publications, published by the AMA Publishing Group, that includes JAMA and 9 specialty Archives Journals. = First time exhibitor Shaded = Meeting Supporter

289 EXHIBITORS 287 JMG (BMJ Group) Tel: 44 (0) URL: Journal of Medical Genetics (JMG) is a leading international peer reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Published monthly, each edition includes original articles, short reports, review articles, hypothesis articles, book reviews, online mutation reports and e-letters. Visit jmg.bmj.com to find out more. JSI medical systems GmbH Tel: mail@jsi-medisys.com URL: JSI medical systems with U.S. office in CA is located in the Black Forest area at southwest Germany. Our software Sequence Pilot is the leading premium product for analysis of nextgeneration sequencing, conventional sequencing, HLA SBT, HLA 454, MLPA and Affymetrix chip resequencing data. For detailed information see Karger Publishers Tel: / karger.susan@snet.net URL: Karger is pleased to announce the publication of An International System for Human Cytogenetic Nomenclature (2013). Other titles include the book series Genome Dynamics and Monographs in Human Genetics; and the journals Cytogenetic and Genome Research, Journal of Nutrigenetics and Nutrigenomics, Molecular Syndromology, Public Health Genomics, and Sexual Development. Knome, Inc Tel: aryan@knome.com URL: Knome is a leading provider of human genome interpretation software and services. Medical and research institutions use our innovative solutions to identify the genetic basis of disease, tumor growth, and drug response. Designed to accelerate the discovery process, Knome s technologies are helping to pave the transition to molecular-based, personalized medicine. Kailos Genetics, Inc Tel: / mike@kailosgenetics.com URL: TargetRich sets new expectations in targeted enrichment. A single-tube workflow - from start to finish - provides a fast, easy and scalable enrichment. Whether a custom solution, or fixed panel, our proprietary technology offers the specificity, high alignment and uniformity for efficient next-generation sequencing with just 10ng of starting material. Kapa Biosystems Inc Tel: / fritz.tiedt@kapabiosystems.com URL: Kapa Biosystems offers a portfolio of best-in-class PCR reagents engineered using our high-throughput molecular evolution platform. The novel DNA polymerases contained within our kits confer dramatic improvements to performance that enable results and applications not possible with wild-type enzymes. Next-generation PCR is defined as the shift from generalist wild-type enzymes toward designer specialist enzymes. Kreatech Inc Tel: / na-customerservice@kreatech.com URL: Kreatech, Inc. offers POSEIDON FISH probes with REPEAT-FREE technology. Kreatech has an extensive portfolio of FISH probes and custom design capability. Kreatech s labeling technology, ULS - the Universal Linkage System, allows non-enzymatic, accurate and fast labeling of DNA, RNA and proteins; one universal labeling system compatible with all biological samples. Labcyte Inc Tel: / info@labcyte.com URL: Labcyte is revolutionizing life science with the Echo liquid handler which uses acoustic energy to transfer liquids. This touchless technology provides dramatically better results by eliminating pipette tips and their associated problems, while saving hundreds of thousands of dollars annually in decreased consumables. Labcyte technologies have broad application in many fields. EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

290 288 EXHIBITORS Laboratory for Molecular Medicine, PCPGM Tel: URL: The Harvard-affiliated Laboratory for Molecular Medicine, a CLIA-certified molecular diagnostic laboratory within the Partners Healthcare Center for Personalized Genetic Medicine, bridges the gap between research and medicine by translating genetic discoveries into clinical testing, including expanding current disease areas and developing new content for clinical use on next-generation technologies. Leica Microsystems Corp Tel: / info@leica-microsystems.com URL: LGC Genomics/Kbioscience Tel: bonnie.alvarado@lgcgenomics.com URL: LGC Genomics, now incorporating KBioscience, offers a powerful array of products and services for nucleic acid extraction, genotyping, and sequencing. Our novel PCR-based KASP genotyping chemistry offers superb data quality, maximum flexibility, and tremendous cost savings versus competing technologies. Please visit our booth to learn more! Life Technologies Tel: URL: Life Technologies Corporation (NASDAQ: LIFE) is a global biotechnology company dedicated to moving science forward to improve life in meaningful ways for everyone. Our premier brands are the most cited, most trusted in the life sciences industry: Invitrogen, Applied Biosystems, Gibco, Molecular Probes, Novex, TaqMan, Ambion, and Ion Torrent. McGraw-Hill Tel: digitalsales@mhedu.com URL: As one of the world s premier medical publishers, McGraw Hill provides geneticists, researchers, educators, and students with access to OMMBID, the unparalleled online resource for genetic contribution to health and disease, as well as information for the broader medical world. Visit: and to learn more. MetaSystems Tel: / hwhitney@metasystems.org URL: MetaSystems provides fast, easy-to-use genetic imaging and high-throughput slide scanning systems: ikaros for automatic karyotyping, isis for FISH imaging, CGH, mfish, high resolution color and banding analysis, metafer for fully automatic slide analysis, spot counting, rare cell detection, metaphase search, array analysis, XCyte DNA probes. Please visit our website Microsonic Systems Inc Tel: sales@microsonics.com URL: Microsonic Systems Inc. develops acoustics-based instruments for a broad base of life science sample prep applications. The high-throughput Microsonics ST300 system with patented ultrasonic technology provides high quality fragments for NGS; parallel sample processing and automation maximizes walkaway time with upgrade path to meet growing needs. Learn more at MRC-Holland Tel: info@mlpa.com URL: MRC-Holland is the company that produces and develops SALSA MLPA probemixes that can be used for the analysis of copy number changes and methylation status of genomic sequences in a wide variety of inherited diseases as well as in tumors. Myriad Genetic Laboratories Tel: / sphillip@myriad.com URL: Myriad Genetics is a leading molecular diagnostic company dedicated to making a difference in patients lives through the discovery and commercialization of transformative tests to assess a persons risk of developing disease, guide treatment decisions and assess risk of disease progression and recurrence. NanoString Technologies, Inc Tel: / info@nanostring.com URL: NanoString Technologies is a privately held life sciences company marketing a complete solution for detecting and counting large sets of target molecules in biological samples. = First time exhibitor Shaded = Meeting Supporter

291 EXHIBITORS 289 Natera Tel: ext URL: Natera provides reproductive genetic tests using bioinformatics in combination with sequencing technologies. Tests include preimplantation genetic diagnosis (PGD) for IVF, rapid turnaround molecular karyotyping of products of conception, non-invasive prenatal paternity testing, and non-invasive prenatal testing. National Center for Biotechnology Information Tel: URL: NCBI provides integrated access to DNA and protein sequence data, associated mapping data, protein structures, and MEDLINE. Demonstrations of the GenBank database, the Entrez retrieval system, PubMed for MEDLINE searching, BLAST and VAST similarity searches for sequence and structures, and the BankIt and Sequin sequence submission software will be provided. National Human Genome Research Institute Tel: URL: The National Human Genome Research Institute (NHGRI) led the National Institutes of Health s (NIH) contribution to the International Human Genome Project. The human genomed was succesfully sequenced in Now, the NHGRI s mission has expanded to encompass a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. New England Biolabs, Inc Tel: shnider@neb.com URL: NEB leads the industry in the discovery and production of enzymes for molecular biology applications including sample preparation for nextgeneration sequencing. NEB s global reputation for manufacturing products of the highest quality coupled with best in class technical support makes NEB a first choice for customers demanding optimized reagents for advanced technologies. NextGxDx Tel: kmcknight@nextgxdx.com URL: NextGxDx is a web-based genetic diagnostics platform, allowing hospitals and physicians to identify appropriate genetic tests and cross-reference multiple laboratories. Enabling physicians to research tests by patient symptoms, instantly compare tests across laboratories, and determine existing relationships, NextGxDx provides physicians with a single destination for discovering, comparing and ordering tests. Norgen Biotek Corp Tel: / info@norgenbiotek.com URL: Norgen is an innovative biotechnology company specializing in sample collection, preservation and preparation kits. We provide RNA, microrna, DNA and protein isolation and clean-up kits based on a proprietary technology. Norgen also supplies the most extensive range of saliva and urine collection, concentration and isolation products available to meet a wide range of applications. Nature Publishing Group Tel: institutions@us.nature.com URL: The NPG portfolio combines the excellence of Nature its associated research and review journals, and leading academic and society journals in the life, physical and clinical sciences. Open access options are offered through the academic and society journals, Nature Communications and through a new fully open access publication: Scientific Reports NVIGEN Tel: info@nvigen.com URL: NVIGEN offers customizable nanoparticle services and prepackaged nanoparticle reagents for research and industry needs. Our bioentity-conjugated nanoparticles, with magnetic and optical properties, provide efficient performance for genomic purification & extraction, co-immunoprecipitation, molecular and cell separation, targeted delivery and imaging. Our IP holds tremendous potential for high-sensitivity, high-throughput platforms and partnerships alike. EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

292 290 EXHIBITORS NXT-Dx Tel: URL: NXT-Dx is a privately owned epigenetics company, providing methylation and small RNA analysis services to epigenetics researchers worldwide. Our services include MBD-based genome-wide DNA methylation sequencing, bisulfite sequencing, mirna and/or lncrna expression profiling and RNA sequencing. We offer full-scope service from sample shipment, pre-processing, sequencing/rt-qpcr, bio-informatics to results visualization. Office of Rare Diseases Research (NIH) Tel: / ordr@mail.nih.gov URL: The Office of Rare Diseases Research (ORDR) supports and coordinates rare disease research, responds to research opportunities and provides information on rare diseases. ORDR serves the needs of patients who have any one of the thousands of rare diseases known today. ORDR coordinates and fosters relationships with patient advocacy groups to academic institutions as well as other NIH Institutes and Centers. Omixon Biocomputing Tel: attila.berces@omixon.com, boglarka.fekete@omixon.com URL: Omixon provides software for next-generation sequencing data analysis with its flagship product Omixon Target. Omixon Target was designed with the vision of assisting diagnostics laboratories to adapt NGS technologies. The underlying mapping, alignment and variant calling algorithms are intended to meet the high precision and analysis quality control requirements of diagnostics labs. OpGen, Inc Tel: jmacemon@opgen.com URL: OpGen, Inc. provides whole genome analysis systems and services for sequence assembly, strain typing and comparative genomics applications. Genomics research and public health labs use OpGen s technology to produce high-resolution, ordered, restriction maps from single DNA molecules that provide a comprehensive view of genomic architecture. Learn more at Otogenetics Corporation Tel: / sales@otogenetics.com Otogenetics Corporation based in suburb of Atlanta, GA specializes in offering high coverage sequencing for panels of disease genes or pathway-focused genes (e.g., whole exome of various species, deafness genes, cancer genes, cardiomyopathy genes, etc.) and apply NGS for RNA-Seq and profiling of epigenetic modifications of genomic DNA. Oxford Gene Technology Tel: 44 (0) contact@ogt.co.uk URL: OGTs CytoSure range of acgh products provides the complete array solution for constitutional and cancer cytogenetics: from high resolution oligonucleotide arrays, including the ISCA designs and the new cancer +SNP combination array using OGTs proprietary SNP chemistry, to optimized labeling kits and cytogenetically focused analysis and interpretation software. Oxford Nanopore Technologies Ltd Tel: info@nanoporetech.com URL: Oxford Nanopore Technologies is developing the electronic devices GridION and MinION for the direct analysis of single molecules including DNA, RNA/ mirna and proteins. Please visit exhibition booth to find out more. Oxford University Press Tel: custserv.us@oup.com URL: Oxford University Press publishes some of the most respected genetics books and journals in the world, including Human Molecular Genetics. Our booth will feature Common Malformations, by Lewis Holmes and Achieving Justice in Genomic Translation, edited by Burke, et al., and the rest of Oxford s leading books in genetics. = First time exhibitor Shaded = Meeting Supporter

293 EXHIBITORS 291 Pacific Biosciences Tel: URL: The PacBio RS, a high resolution genetic analyzer, helps scientists solve genetically complex problems. Based on single-molecule, real-time (SMRT) technology, it enables: targeted sequencing to comprehensively characterize genetic variations; de novo genome assembly to identify, annotate and decipher genomic structures; and DNA base modification identification to help characterize epigenetic regulation. Palmyra Software Tel: info@palmyrasoftware.com URL: Palmyra Software develops visual software to automate computational analysis of high-throughput data, focusing on NGS sequencing data. The software enables biologists and bioinformaticians alike to easily organize multiple analysis runs, from execution to results files. The software also encourages efficiency of computational resources, re-using workflows and tracing history of results. Partek Incorporated Tel: tsilber@partek.com URL: Partek provides software for next-generation sequencing, microarray, and qpcr data analysis and visualization that empowers biologists to find biological meaning within their data. With an intuitive interface designed for researchers, Partek s complete solution takes raw data to statistical and pathway analysis that allows true multi omics integration. Pfizer Tel: sandra.kusek@pfizer.com URL: At Pfizer, we apply science and our global resources to improve health and well-being at every stage of life. Every day, Pfizer colleagues work across developed and emerging markets to advance wellness, prevention, treatments and cures that challenge the most feared diseases of our time. Phalanx Biotech Group Tel: info@onearray.com Phalanx Biotech Group provides genomic products and services worldwide to academic, pharmaceutical, biotech, and clinical research communities. Our expertise in expression profiling and genetic analysis stems from our excellence as an ODM of OneArray gene expression microarrays, CytoOneArray targeted chromosomal microarrays, and comprehensive knowledge developed as an application-focused service provider. PhenX Toolkit Tel: hmp@rti.org URL: The PhenX Toolkit is a web-based catalog that offers high-priority measures for consideration and inclusion in genome-wide association studies (GWAS) and large-scale genomic research efforts. With the Toolkit, investigators can identify highquality, standard measures to add to a new or ongoing study, and will simplify comparisons across studies. PerkinElmer, Inc. Life Sciences & Technology Tel: / CustomerCareUS@perkinelmer.com URL: PerkinElmer s Life Sciences & Technology division offers a wide range of automation and detection solutions for genomics and cellular imaging, including state-of-the art microfluidics, lab automation and liquid handling systems for NGS supported by the Geospiza informatics platform. Visit us at booth The PMD Foundation, Inc Tel: PMDChair@pmdfoundation.org URL: The PMD Foundation is a 501(c)3 non-profit organization formed to make a world where there is no Pelizaeus Merzbacher Disease. We do this by raising awareness and serving: PMD Children and their Families, the General Public, the Researchers and the Clinicians. EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

294 292 EXHIBITORS POSSUM - Murdoch Childrens Research Institute Tel: possum@mcri.edu.au URL: POSSUMweb is a dysmorphology database. NEW RELEASE fully web-based version, with free-text search, greater inter-activity, even use on your ipad. Assists clinicians in diagnosing syndromes in patients, using traits and images. Useful teaching tool, around 4000 syndromes including multiple malformations, chromosomal abnormalities, skeletal dysplasias, metabolic disorders, extensive trait atlas. PreventionGenetics LLC Tel: s.samuels@preventiongenetics.com URL: PreventionGenetics offers Next-Gen, Clinical DNA Testing and DNA Banking services. We offer clinical sequencing tests for over 500 genes. Our experienced team of geneticists provide fast turnaround times, outstanding personalized service, and the most reasonable prices in the industry. Our lab is fully CLIA accredited. To learn more visit www. preventiongenetics.com. Progeny Software, LLC Tel: / info@progenygenetics.com URL: Since 1996, Progeny has been the pedigree data management software of choice for over 1900 sites in over 78 countries. Now available, an online Family History Questionnaire that integrates into your EMR, or any system. Sample tracking and genotype data management software also available. See a demo at Booth 518. Prognosys Biosciences, Inc Tel: info@prognosysbio.com URL: Sequensys, a division of Prognosys Biosciences, offers next-generation sequencing services. These now include MiSeq services, Voila! study-level RNA- Seq analysis, and Rivia target enrichment kits. Promega Corporation Tel: mary.oconnell@promega.com URL: Promega Corporation is a world leader in applying molecular biology and biochemistry to the development of innovative, high value products for the life sciences. Stop by our booth to learn about our latest solutions for nucleic acid purification from blood and other sample types as well as products for qpcr and RT-qPCR. Pubget, Inc Tel: marketing@pubget.com URL: Pubget develops cloud-based content access tools for researchers. The core product, Pubget.com, is a site for legally finding and directly retrieving research papers. Pubget.com provides access to content for over 500 libraries worldwide. Pubget s corporate services include marketing solutions, such as display advertising, API and textmining solutions. Public Library of Science Tel: cassadi@plos.org URL: Public Library of Science (PLOS) is a nonprofit open access publisher, membership, and advocacy organization with a mission to accelerate progress in science and medicine by leading a transformation in research communication. QIAGEN Inc Tel: / customercare-us@qiagen.com URL: QIAGEN is the leading global provider of sample and assay technologies that are used to transform biological materials into valuable molecular information. QIAGEN markets more than 500 products around the world, selling both consumable kits and automation systems to four customer classes: Academia, Applied Testing, Pharma, and Molecular Diagnostics. = First time exhibitor Shaded = Meeting Supporter

295 EXHIBITORS 293 RainDance Technologies, Inc Tel: URL: RainDance Technologies, the Digital Biology Company, is pioneering the use of high-throughput picodroplet-based analysis in human health and life science research. The complete RainDance solution includes automated instrumentation, customizable bioinformatics and high-value consumables and reagents for next-generation DNA sequencing and digital PCR applications. Rubicon Genomics, Inc Tel: URL: Rubicon provides proprietary ThruPLEX, OmniPLEX, and PicoPLEX kits for the most rapid, sensitive and reproducible preparation of clinical samples (including single cells, plasma, FFPE-tissue and immunoprecipitates). Kits for research and diagnostics are available from Rubicon, distributors, and OEM partners for genetic, epigenetic, and expression analysis using NGS, arrays and PCR. Rare Disease Therapeutics, Inc Tel: URL: Rare Disease Therapeutics, Inc. is Americas first exclusively orphan drug company committed to developing and marketing drugs for rare disorders. RDT is dedicated to patients with unmet medical needs that have been overlooked by other pharmaceutical companies and distributes Orfadin (nitisinone) for hereditary tyrosinemia type I and Cystadane (betaine anhydrous for oral solution) for homocystinuria. Recombine LLC Tel: alex@recombine.com URL: Recombine is a clinical genetic testing company. We provide an integrated service covering everything from sample collection to patient counseling. We leverage new and powerful genotyping technologies to provide state-of-the-art, comprehensive and cost effective diagnostics. We simplify the genetic testing process so you can focus on caring for your patients. Roche Applied Science Tel: heather.easterling@roche.com URL: Roche Applied Science supplies an extensive portfolio of instruments and kits to support translational research. Our enabling technologies include the LightCycler 480 Instrument, MagNA Pure 96 Instrument, and custom qpcr assays. We also provide solutions for targeted sequencing, including the GS Junior and GS FLX Systems, and NimbleGen sequence capture. RUCDR Tel: x jmckiml@dls.rutgers.edu URL: By utilizing a technologically advanced infrastructure and the highest quality biomaterials, RUCDR has become a world leader in support of genetics research. RUCDR scientists work to convert precious biosamples into renewable resources thereby extending research capabilities. We offer comprehensive biobanking, sequencing, nucleic acid and functional analytics and stem cell services. Sage Science Inc Tel: alex@sagescience.com URL: Sage Science manufactures the Pippin Prep and BluePippin DNA size selection systems for NGS library construction. An automated alternative manual gel purification, the platform uses pre-cast agarose gel cassettes collects sized DNA fragments in buffer. In addition to savings in time and effort, Pippin-sized libraries provide superior sequencing results. Sanford Research Tel: liz.donohue@sanfordhealth.org URL: Here at Sanford Research, we are committed to finding cures and advancing therapies into rare diseases. To further this mission, we established the Coordination of Rare Diseases at Sanford (CoRDS) a national rare disease registry designed to accelerate research into these rare conditions. CoRDS collects and stores basic contact and clinical information on individuals of any age who have been diagnosed with a rare disease (undiagnosed individuals are also eligible for enrollment). EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

296 294 EXHIBITORS SCC Soft Computer Tel: URL: SCC Soft Computer s comprehensive genetics information management suite offers a full range of genetics tools to automate workflow in the laboratory. This suite offers a selection of Cytogenetics, Molecular, Flow Cytometry, HLA (immunogenetics), Diagnostic Pathology, and Biochemistry systems that are highly configurable and allow for unique, userdefined protocols. Science/AAAS Tel: / membership@aaas.org URL: Since 1848, AAAS and its members have worked together to advance science and serve society. As part of these efforts, AAAS publishes Science, a multidisciplinary peer-reviewed journal, and offers programs focused on science policy, international cooperation, science education, diversity, and career development for scientists. SciGene Tel: / custserv@scigene.com URL: SciGene equipment automates the complex, tedious benchwork required to process DNA microarrays for CMA testing. Starting with patient DNA, specialized instruments perform labeling through post-hybridization processing; producing consistently high quality arrays ready for scanning. SciGene automation boosts productivity, lowering costs, reducing re-test rates and standardizing tests for more reliable results. Sequenom, Inc Tel: aloria@sequenom.com URL: Sequenom offers instrumentation and reagents for highly sensitive, robust nucleic acid detection. Cited in >1,500 publications, the MassARRAY System has proven its utility for genetic analysis and GWAS validation. The system offers high-throughput, costeffective validation of somatic mutations and other biomarkers downstream of sequencing. Sequenom also offers custom research services. SeqWright, Inc Tel: / admin@seqwright.com URL: SeqWright, Inc. is a full-service CLIA certified and GLP compliant nucleic acid technology CRO focused on traditional and next-generation sequencing. The companys mission is to drive scientific and medical innovation by helping to facilitate and accelerate the research, development and regulatory submission efforts of its customers. Seven Bridges Genomics Tel: team@sbgenomics.com URL: The IGOR platform by Seven Bridges Genomics is a cloud computing system that enables clinical/ translational researchers to manage and scale their own analysis of next-generation sequencing data. We enable whole-exome and whole-genome analysis with the leading peer-reviewed tools; scientists can apply and cite cutting-edge methods with no hardware or programming experience required. Shire Tel: URL: Shire HGT, a business within the Shire group of companies, is committed to developing, manufacturing, and commercializing therapies for rare genetic diseases. The company achieves this through collaboration with academic researchers, physicians and patient associations, with the goal of providing therapies for patients worldwide. Signature Genomics from PerkinElmer Tel: / CustomerCareUS@perkinelmer.com URL: Signature Genomics from PerkinElmer offers whole genome microarray assessment with combined results of CNE and TA from more than 1,800 oncogenes, all from one sample, using one technology. The analysis and report are provided by Signature Genomics OncoGlyphix software. Signature s Hematology Diagnosis offering is fully validated while our Solid Tumor offering is well into development. = First time exhibitor Shaded = Meeting Supporter

297 EXHIBITORS 295 SimulConsult, Inc Tel: URL: SimulConsult provides diagnostic decision support tools for medical professionals that save time. The Genome-Phenome Analyzer provides clinical correlations among patient findings, labs and annotated variant tables with SimulConsult s manually curated, computational database of diseases and their findings, and can be used for panels and WES/WGS in CLIA and research laboratories. SoftGenetics, LLC Tel: / info@softgenetics.com URL: Featuring NextGENe software for analysis of all NGS data; enhanced capabilities and functionalities added to GeneMarker and New GeneMarkerMTP, multiple template Processor. New ChimerMarker, Chimerism Analysis and long term monitoring software and Mutation Surveyor software for the analysis of Sanger Sequences. SoftGenetics is providing demonstrations and 30-day trials. Sony DADC Tel: 43 (0) biosciences@sonydadc.com URL: Sony DADC, centered in Salzburg, Austria helps companies globally respond to the challenges of the rapidly growing Life Sciences and IVD market by offering OEM development as well as ISO certified mass manufacturing and supply of polymerbased smart consumables (including content filling, packaging and global logistics). Spiral Genetics Tel: dreesbl@spiralgenetics.com Spiral Genetics offers three advantages for DNA sequence data analysis: speed, accuracy and scale. The company s cloud-based bioinformatics platform is easy to access and analyze, from reads to variants, for a whole human genomes worth of data in 3 hours. Springer Tel: / exhibits-ny@springer.com URL: Get hands-on experience with Springer s multiformat publishing model: print ebook MyCopy (printed ebooks for US$ 24.95). Our mission is to support your research. Come browse our books in your preferred format: print, online, or ipad. Ensure optimized print and electronic dissemination of your work! Get Read. Publish With Springer. springer.com STARLIMS Tel: sales@starlims.com URL: STARLIMS has nearly 25 years of experience working with hundreds of laboratories in the clinical and diagnostic sectors. STARLIMS solutions are based on the same award-winning platform that has helped laboratories around the world achieve their analytical, regulatory and business objectives. Its unified webbased platform includes LIMS, ELN and SDMS. Streck Tel: custserv@streck.com URL: Streck develops and manufactures products for clinical and research laboratories. Streck s core technology is cell stabilization, and the pioneering research has led to the development of a number of patented products for use in hematology, immunology and flow cytometry. Streck s innovative products include blood collection tubes and molecular diagnostic products. SurModics Tel: bsmith@surmodics.com URL: SurModics IVD offers protein stabilizers for immunoassays, conjugates, and microarrays (all with BSA-free versions), blocking reagents, BioFX colorimetric and chemiluminescent substrates, secondary antibodies, and several accessory reagents, autoimmune and infectious disease antigens from Diarect AG, activated microarray slides, and custom in vitro diagnostic surface chemistries. EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

298 296 EXHIBITORS SwitchGear Genomics Tel: SwitchGear Genomics offers a full, simplified luciferase-based reporter assay solution with 18,000 human promoter reporters, 12,000 3 UTR reporters, validated inducible promoters, synthetic response elements, and optimized reagents to study gene regulation as it occurs in living cells. Utilizing a novel synthetic luciferase gene with industry-leading brightness, the LightSwitch System measures the impact of transcript regulation and translational efficiency in cell-based systems. Tecan Tel: / claire.rhodes@tecan.com URL: Tecan is a leading global provider of laboratory instruments and solutions. The company specializes in the development, production and distribution of instruments and automated workflow solutions for laboratories in the life sciences sector. Its clients include pharmaceutical and biotechnology companies, university research departments, forensic and diagnostic laboratories. Therapeutics for Rare and Neglected Diseases Tel: trnd@mail.nih.gov URL: The Therapeutics for Rare and Neglected Diseases (TRND) program is an effort to encourage and speed the development of new drugs for rare and neglected diseases. TRND provides an opportunity to gain access to rare and neglected disease drug development capabilities, expertise, and clinical/ regulatory resources in a collaborative environment. Thermo Scientific Tel: info@nanodrop.com URL: Demand Thermo Scientific products to accelerate discovery and move science forward. The Thermo Scientific portfolio includes a broad array of high-quality instruments, reagents, laboratory consumables, equipment, and services designed to help you run your laboratory at peak performance, from start to finish. See the entire Thermo Scientific lineup at Time Logic Tel: / tlsales@activemotif.com URL: About TimeLogic For the past 15 years, TimeLogic has been providing high-throughput computing solutions for the bioinformatics community. Our FPGA-based DeCypher systems deliver industryleading price to performance and provide faster results and lower operational costs than alternative solutions. Find out more and schedule your own benchmark tests at Transgenomic, Inc Tel: / info@transgenomic.com URL: Transgenomic, Inc. advances personalized medicine in cancer and inherited diseases through proprietary technologies and clinical and research services. Transgenomic has three divisions: Diagnostic Tools produces equipment, reagents, and consumables for molecular testing and cytogenetics. Pharmacogenomic Services supports oncology preclinical and clinical trials. Clinical Laboratories provides molecular diagnostics. trinean Tel: tony.montoye@trinean.com URL: Trinean offers the DropSense96 platform for high throughput and label-free DNA-RNAprotein quantification. This microfluidic-based reader performs UV/VIS scans on 96 droplets (2l) within 5 minutes. In-depth spectral analysis by the innovative cdrop software allows specific quantification by defining the spectral contribution of the target molecule and co-purified substances within samples. UAB Medical Genomics Laboratory Tel: medgenomics@uab.edu URL: The Medical Genomics Laboratory (MGL) is a CAP-certified, non-profit clinical laboratory at the University of Alabama at Birmingham, offering comprehensive testing for common and rare genetic disorders. The MGL specializes in testing for all forms of the neurofibromatoses, including NF1, Legius syndrome, NF2, segmental NF, spinal NF, NF-Noonan and schwannomatosis. = First time exhibitor Shaded = Meeting Supporter

299 EXHIBITORS 297 UCLA Clinical Genomics Center Tel: URL: The comprehensive services of the UCLA Clinical Genomics Center, performed within CLIA-certified and CAP-accredited laboratories, include an extensive menu of genetic and genomic testing for hereditary disorders (including whole exome sequencing), cancer diagnosis and management, and genetic counseling. Other areas of expertise include Sanger sequencing, FISH diagnostics, and chromosomal microarray. The University of Chicago Genetic Services Tel: / URL: Our laboratory is committed to high quality genetic diagnostics and translational research toward the development of tests for orphan diseases. Our focus is neurodevelopmental disorders. Some of our services include genetic testing for brain malformation syndromes, microcephaly, epileptic encephalopathy and Cornelia de Lange syndrome. University of Southern California, Information Sciences Institute Tel: The University of Southern California s Information Sciences Institute and the University of North Carolina, Chappel Hill, funded by NHLBI s Phenotype Finder IN Data Resources (PFINDR) program, are developing advanced informatics approaches to categorize and correlate phenotypic measures across multiple datasets to improve data reuse and facilitate novel discoveries. V&P Scientific, Inc Tel: / sales@vp-scientific.com URL: V&Ps 96, 384 and 1536 pin tools transfer nanoliter through microliter volumes to microplates, agar, membranes, glass slides. Unique stirring systems for mixing in microplates and reservoirs keep cells, particulates and magnetic beads in suspension for pipetting. Hand-Held Magnetc Bead Separation Blocks for rapid manual separation and washing in microplates. Wiley - Blackwell Tel: info@wiley.com URL: Wiley-Blackwell is the international scientific, technical, medical and scholarly publishing business of John Wiley & Sons, with strengths in every major academic and professional field and partnerships with many of the world s leading societies. For more information, please visit or Zymo Research Corporation Tel: / ssanchez@zymoresearch.com URL: Since 1994, Zymo Research has been offering innovative, quality, and easy-to-use tools for Epigenetics research and DNA/RNA purification. As The Epigenetics Company Zymo Research is an industry leader in epigenetic product and service development. Our products are well known for their quality, affordability, efficiency, and unparalleled technical and customer support. USB products from Affymetrix Tel: / URL: Affymetrix, Inc. offers a broad line of USB molecular biology products and biochemicals for all of your research needs. Choose from ExoSAP-IT reagent for PCR cleanup, VeriQuest qpcr Master Mixes, DNA polymerases, PrepEase purification products for DNA, RNA, and protein purification, modifying enzymes, cloning kits, nucleotides, and more. Visit usb.affymetrix.com. EXHIBITORS = First time exhibitor Shaded = Meeting Supporter

300 The Heart of the Exhibit Hall Central Get Answers at the ASHG Membership booth Meet your Editors at the American Journal of Human Genetics booth Learn about Boston, the destination for ASHG 2013 Meet Society Leadership Sit down in our seating area Recharge your electronics Network with colleagues

301 PRODUCT AND SERVICE INDEX AND 384-WELL TRACKING DEVICE/ PIPETTING AID Embi Tec ACCOUNTING & FINANCIAL SERVICES FASEB AFFINITY-PURIFIED SECONDARY ANTIBODIES AnaSpec Inc, Eurogentec Group Epigentek Group Inc SurModics AFFYMETRIX CHIP RESEQUENCING ANALYSIS JSI medical systems GmbH AGAROSE Affymetrix, Inc USB products from Affymetrix AGG MAPPING ASURAGEN, INC ALLELE SPECIFIC EXPRESSION ANALYSIS EpigenDx ALPHA FETO-PROTEIN TESTING (AFP) ARUP Laboratories ALZHEIMER TESTING SERVICES Athena Diagnostics ANALYTICAL SERVICES AnaSpec Inc, Eurogentec Group Expression Analysis Genformatic Golden Helix, Inc Knome, Inc RUCDR Seven Bridges Genomics ARM PROBES MetaSystems ASSOCIATION BC Platforms Ltd FASEB Golden Helix, Inc Human Variome Project Int. Ltd ASSOCIATION MANAGEMENT SERVICES FASEB AUTOIMMUNE ANTIGENS SurModics AUTOMATED GENETIC ANALYSIS INSTRUMENTATION Advanced Analytical Applied Spectral Imaging, Inc Beckman Coulter, Inc BioNano Genomics, Inc Diagenode Inc Genformatic Innopsys Labcyte Inc Leica Microsystems Corp MetaSystems NanoString Technologies, Inc Pacific Biosciences RainDance Technologies, Inc RUCDR Sequenom, Inc AUTOMATED KARYOTYPING Applied Spectral Imaging, Inc Leica Microsystems Corp MetaSystems AUTOMATED LIQUID HANDLING WORKSTATIONS Agilent Technologies Beckman Coulter, Inc Diagenode Inc Labcyte Inc Tecan trinean AUTOMATED NUCLEIC ACID PURIFICATION INSTRUMENTATION AutoGen, Inc Beckman Coulter, Inc chemagen from PerkinElmer IntegenX Inc RUCDR Tecan trinean BAC DNA ISOLATION AutoGen, Inc chemagen from PerkinElmer EdgeBio Epicentre (an Illumina company) SeqWright, Inc Zymo Research Corporation BACTERIAL ELECTROPORATION SYSTEMS Bio-Rad BAR CODE Data Unlimited International, Inc BIOCHEMICAL ANALYSES ARUP Laboratories Baylor College of Medicine, Medical Genetics Laboratories Greenwood Genetic Center Prognosys Biosciences, Inc Tecan PRODUCT INDEX

302 300 PRODUCT AND SERVICE INDEX BIOCHEMICAL REAGENTS Affymetrix, Inc AnaSpec Inc, Eurogentec Group Epicentre (an Illumina company) Epigentek Group Inc Gene Tools, LLC Prognosys Biosciences, Inc Roche Applied Science USB products from Affymetrix BIOCHEMICALS Affymetrix, Inc Gene Tools, LLC SurModics USB products from Affymetrix BIOINFORMATICS Gene Codes Corporation BIOLOGICALS Alexion Pharmaceuticals SurModics Therapeutics for Rare and Neglected Diseases BIOMARKERS Exiqon BIOMATERIALS AGRE-Autism Genetic Resource Exchange Diagenode Inc RUCDR BIOTINYLATED ANTIBODIES Epigentek Group Inc SurModics BISULFITE SEQUENCING NXT-Dx BLOOD DNA PURIFICATION AutoGen, Inc BioReliance chemagen from PerkinElmer Embi Tec Gene Link, Inc RUCDR Zymo Research Corporation BLOTTING EQUIPMENT Bio-Rad BLOTTING MEMBRANES Bio-Rad BOOKS, JOURNALS, AND ELECTRONIC PUBLICATIONS Cold Spring Harbor Laboratory Press BOOKS, JOURNALS, ENCYCLOPEDIAS, PUBLICATIONS American Journal of Human Genetics Cold Spring Harbor Laboratory Press Elsevier FASEB Greenwood Genetic Center Human Variome Project Int. Ltd Karger Publishers Oxford University Press Springer BUCCAL DNA PURIFICATION AutoGen, Inc BioReliance chemagen from PerkinElmer RUCDR Tecan Zymo Research Corporation CANCER GENE PANELS SeqWright, Inc cdna Bioline USA Inc chemagen from PerkinElmer Epicentre (an Illumina company) Gene Link, Inc IntegenX Inc QIAGEN Inc SeqWright, Inc Thermo Scientific cdna LIBRARIES Agilent Technologies BioReliance IntegenX Inc SeqWright, Inc Thermo Scientific CELL BANKING BioReliance RUCDR CELL CULTURE MEDIA Applied StemCell, Inc Irvine Scientific Life Technologies CELL CULTURES Applied StemCell, Inc BioReliance Coriell Institute for Medical Research RUCDR CELL DISRUPTORS Diagenode Inc

303 PRODUCT AND SERVICE INDEX 301 CELL SEPARATION EQUIPMENT Diagenode Inc CELLULAR IMAGING PerkinElmer, Inc. Life Sciences & Technology CELLULAR ISOLATION PRODUCTS NVIGEN CHARACTERIZATION SeqWright, Inc CHEMICALS USB products from Affymetrix CHEMILUMINESCENCE SYSTEMS Gene Link, Inc SurModics CHIP PRODUCTS Ambry Genetics Covaris Inc Diagenode Inc Innopsys IntegenX Inc Oxford Gene Technology Recombine LLC RUCDR Sony DADC trinean CHIP-SEQ Axeq Technologies CHROMATIN IMMUNOPRECIPITATION PRODUCTS Diagenode Inc CHROMATOGRAPHY WORKSTATIONS Transgenomic, Inc CHROMOSOMAL ABERRATIONS Affymetrix, Inc Agilent Technologies BioDiscovery, Inc Cartagenia GeneDx MetaSystems MRC-Holland Oxford Gene Technology PerkinElmer, Inc. Life Sciences & Technology RUCDR Seven Bridges Genomics Signature Genomics from PerkinElmer CHROMOSOMAL ANEUPLOIDY SCREENING Ariosa Diagnostics CHROMOSOMAL MICROARRAY UCLA Clinical Genomics Center CHROMOSOME ANALYSES Affymetrix, Inc Applied Spectral Imaging, Inc Ariosa Diagnostics ARUP Laboratories Baylor College of Medicine, Medical Genetics Laboratories BlueGnome Limited Cincinnati Children s Hospital Medical Center Golden Helix, Inc Greenwood Genetic Center Knome, Inc Leica Microsystems Corp MetaSystems NanoString Technologies, Inc PerkinElmer, Inc. Life Sciences & Technology Phalanx Biotech Group RUCDR Seven Bridges Genomics Signature Genomics from PerkinElmer Transgenomic, Inc CHROMOSOME ENUMERATOR PROBES Abbott Molecular Cytocell Ltd/Rainbow Scientific, Inc CHROMOSOME IN SITU SYSTEMS MetaSystems CHROMOSOME PAINTING SYSTEMS Applied Spectral Imaging, Inc CLINICAL TRIAL SUPPORT SeqWright, Inc CLONING PRODUCTS Agilent Technologies Bioline USA Inc EdgeBio Embi Tec Epicentre (an Illumina company) New England Biolabs, Inc USB products from Affymetrix CMA AUTOMATION EQUIPMENT SciGene COLUMNS Transgenomic, Inc COMPETITIVE GENOMIC HYBRIDIZATION INSTRUMENT Affymetrix, Inc MetaSystems Tecan COMPUTER SOFTWARE Applied Spectral Imaging, Inc BC Platforms Ltd Biobase Corporation PRODUCT INDEX

304 302 PRODUCT AND SERVICE INDEX BioDiscovery, Inc Cartagenia CLC bio Data Unlimited International, Inc Enlis Genomics Gene Codes Corporation GeneInsight Genformatic Golden Helix, Inc Hitachi Solutions America Ltd Innopsys Interactive Biosoftware JSI medical systems GmbH Knome, Inc Leica Microsystems Corp MetaSystems Omixon Biocomputing Oxford Gene Technology Palmyra Software Partek Incorporated PerkinElmer, Inc. Life Sciences & Technology Progeny Software, LLC SCC Soft Computer University of Southern California, Information Sciences Institute CONFOCAL SCANNER Innopsys CONTRACT RESEARCH SYNTHESIS Knome, Inc Therapeutics for Rare and Neglected Diseases COURSES & CONFERENCES European Human Genetics Conference Science/AAAS CULTURED CELLS AGRE-Autism Genetic Resource Exchange CUSTOM ANTIBODIES AnaSpec Inc, Eurogentec Group SurModics CUSTOM CDNA LIBRARIES BioReliance SeqWright, Inc CUSTOM CLONING SERVICE SeqWright, Inc CUSTOM DNA PROBES AnaSpec Inc, Eurogentec Group Cytocell Ltd/Rainbow Scientific, Inc Gene Link, Inc MetaSystems CUSTOMIZED OLIGOS Ambry Genetics AnaSpec Inc, Eurogentec Group Gene Link, Inc Gene Tools, LLC Integrated DNA Technologies, Inc CUSTOM LABORATORY WORKFLOW SYSTEMS Applied Spectral Imaging, Inc GeneInsight CUSTOM MEDIA SERVICES Irvine Scientific CUSTOM MONOCLONAL ANTIBODY SERVICE AnaSpec Inc, Eurogentec Group CUSTOM MUTATION ANALYSIS UCLA Clinical Genomics Center CUSTOM SHOTGUN LIBRARIES SeqWright, Inc CUSTOM TARGETED SEQUENCING Center for Inherited Disease Research (CIDR) CUVETTES - ELECTROPORATION Bio-Rad CYTOGENETIC ANALYZER Applied Spectral Imaging, Inc BioNano Genomics, Inc Illumina, Inc Leica Microsystems Corp Oxford Gene Technology Tecan Transgenomic, Inc CYTOGENETIC TESTING Applied Spectral Imaging, Inc Baylor College of Medicine, Medical Genetics Laboratories Cincinnati Children s Hospital Medical Center Emory Genetics Laboratory GeneDx Greenwood Genetic Center Innopsys Leica Microsystems Corp PerkinElmer, Inc. Life Sciences & Technology Phalanx Biotech Group SciGene Signature Genomics from PerkinElmer Transgenomic, Inc UCLA Clinical Genomics Center DATABASE MANAGEMENT - CLINICAL GENETICS BC Platforms Ltd Cartagenia Data Unlimited International, Inc GeneInsight Genformatic Genial Genetic Solutions/Rainbow Scientific, Inc GenoLogics Interactive Biosoftware

305 PRODUCT AND SERVICE INDEX 303 MetaSystems Progeny Software, LLC RUCDR SCC Soft Computer University of Southern California, Information Sciences Institute DATABASE MANAGEMENT - CYTOGENETICS Applied Spectral Imaging, Inc BC Platforms Ltd Cartagenia Data Unlimited International, Inc Genial Genetic Solutions/Rainbow Scientific, Inc MetaSystems PerkinElmer, Inc. Life Sciences & Technology Progeny Software, LLC SCC Soft Computer Signature Genomics from PerkinElmer DATABASE MANAGEMENT - MOLECULAR GENETICS BC Platforms Ltd Cartagenia Data Unlimited International, Inc Genformatic Genial Genetic Solutions/Rainbow Scientific, Inc GenoLogics Interactive Biosoftware Laboratory for Molecular Medicine, PCPGM Progeny Software, LLC SCC Soft Computer University of Southern California, Information Sciences Institute DATABASE OF BIOTECHNOLOGY JOBS Science/AAAS DATABASE PROTEOMICS Biobase Corporation DATABASES - GENE MAPPING BC Platforms Ltd Biobase Corporation Hitachi Solutions America Ltd Knome, Inc RUCDR DATABASES - GENETIC COUNSELING Natera Progeny Software, LLC DATABASES - GENETIC ORGANIZATIONS Natera NextGxDx Sanford Research DATABASES - GENETIC TESTING Biobase Corporation Data Unlimited International, Inc GeneInsight GeneTests Genformatic Interactive Biosoftware MetaSystems Natera DATABASES - LABORATORIES Applied Spectral Imaging, Inc Cartagenia Data Unlimited International, Inc GeneTests Interactive Biosoftware MetaSystems Natera Progeny Software, LLC DATABASES - PHENOTYPE/DISEASE DESCRIPTIONS BC Platforms Ltd Enlis Genomics GeneInsight GeneTests Hitachi Solutions America Ltd Interactive Biosoftware Knome, Inc POSSUM - Murdoch Childrens Research Institute Sanford Research University of Southern California, Information Sciences Institute DATA COORDINATING CENTER (DCC) AGRE-Autism Genetic Resource Exchange DENSITOMETERS Bio-Rad DIAGNOSTIC AIDS Ambry Genetics Interactive Biosoftware MRC-Holland POSSUM - Murdoch Childrens Research Institute Rubicon Genomics, Inc SurModics DIAGNOSTIC SYSTEMS Abbott Molecular Exiqon Gene Link, Inc Innopsys Interactive Biosoftware PerkinElmer, Inc. Life Sciences & Technology QIAGEN Inc Rubicon Genomics, Inc Signature Genomics from PerkinElmer DIRECT LABELED PROBES BlueGnome Limited MetaSystems DISPENSERS Labcyte Inc Tecan PRODUCT INDEX

306 304 PRODUCT AND SERVICE INDEX DNA AMPLIFICATION EQUIPMENT Agilent Technologies Bio-Rad BlueGnome Limited Natera QIAGEN Inc RainDance Technologies, Inc Rubicon Genomics, Inc Streck DNA ANALYSES Agilent Technologies Ambry Genetics Athena Diagnostics Baylor College of Medicine, Medical Genetics Laboratories BioDiscovery, Inc BioFire Diagnostics Bioline USA Inc BioNano Genomics, Inc Bio-Rad BioReliance BlueGnome Limited Cartagenia Cincinnati Children s Hospital Medical Center CLC bio Connective Tissue Gene Tests DNAnexus, Inc EdgeBio Enlis Genomics Expression Analysis Gene Codes Corporation Golden Helix, Inc Greenwood Genetic Center IntegenX Inc JSI medical systems GmbH Knome, Inc MetaSystems MRC-Holland Myriad Genetic Laboratories NanoString Technologies, Inc Natera Omixon Biocomputing Pacific Biosciences PerkinElmer, Inc. Life Sciences & Technology Phalanx Biotech Group Prognosys Biosciences, Inc QIAGEN Inc RainDance Technologies, Inc Recombine LLC RUCDR Sequenom, Inc SeqWright, Inc Seven Bridges Genomics Signature Genomics from PerkinElmer Transgenomic, Inc trinean UCLA Clinical Genomics Center DNA CUSTOM SYNTHESIS Gene Link, Inc Integrated DNA Technologies, Inc SeqWright, Inc DNA DAMAGE DETECTION PRODUCTS MetaSystems DNA FINGERPRINTING BioReliance IntegenX Inc PreventionGenetics LLC UCLA Clinical Genomics Center DNA ISOLATION KITS Affymetrix, Inc Agilent Technologies AutoGen, Inc Bioline USA Inc chemagen from PerkinElmer Diagenode Inc DNA Genotek Epicentre (an Illumina company) Epigentek Group Inc Gene Link, Inc Life Technologies NVIGEN Roche Applied Science Rubicon Genomics, Inc Zymo Research Corporation DNA LABELING PRODUCTS BioNano Genomics, Inc BlueGnome Limited Gene Link, Inc MetaSystems Oxford Gene Technology SciGene DNA MARKERS Bioline USA Inc BioReliance Embi Tec Natera New England Biolabs, Inc PreventionGenetics LLC QIAGEN Inc Transgenomic, Inc DNA MARKERS & STAIN Affymetrix, Inc New England Biolabs, Inc DNA METHYLATION ANAYLSIS Diagenode Inc DNA METHYLATION ASSAY DESIGN AND VALIDATION EpigenDx

307 PRODUCT AND SERVICE INDEX 305 DNA METHYLATION CONTROLS (HUMAN, RAT, MOUSE) EpigenDx DNA MUTATION DETECTION PRODUCTS Advanced Analytical Ambry Genetics ASURAGEN, INC Bio-Rad Boreal Genomics JSI medical systems GmbH MRC-Holland Omixon Biocomputing Pacific Biosciences RainDance Technologies, Inc Rubicon Genomics, Inc Seven Bridges Genomics Transgenomic, Inc DNA PREPARATION BioReliance chemagen from PerkinElmer Coriell Institute for Medical Research Covaris Inc Diagenode Inc DNA Genotek EdgeBio Epigentek Group Inc Expression Analysis IntegenX Inc Microsonic Systems Inc New England Biolabs, Inc Prognosys Biosciences, Inc RainDance Technologies, Inc RUCDR Sage Science Inc SciGene SeqWright, Inc trinean Zymo Research Corporation DNA PROBES Abbott Molecular Cytocell Ltd/Rainbow Scientific, Inc Gene Link, Inc Integrated DNA Technologies, Inc MRC-Holland Oxford Gene Technology Prognosys Biosciences, Inc QIAGEN Inc DNA PURIFICATION Affymetrix, Inc AutoGen, Inc BioReliance chemagen from PerkinElmer Diagenode Inc DNA Genotek EdgeBio Epicentre (an Illumina company) Expression Analysis IntegenX Inc Integrated DNA Technologies, Inc Life Technologies NVIGEN PreventionGenetics LLC Rubicon Genomics, Inc Sage Science Inc SciGene SeqWright, Inc Tecan USB products from Affymetrix Zymo Research Corporation DNA RECOVERY DEVICES Embi Tec Sage Science Inc DNA SAMPLES BC Platforms Ltd BioReliance Coriell Institute for Medical Research Diagenode Inc DNA Genotek IntegenX Inc QIAGEN Inc Rubicon Genomics, Inc RUCDR trinean DNA SEQUENCE ANALYSIS SOFTWARE Agilent Technologies BC Platforms Ltd BGI Cartagenia DNASTAR, Inc Enlis Genomics Gene Codes Corporation Genformatic Hitachi Solutions America Ltd Illumina, Inc Interactive Biosoftware JSI medical systems GmbH Knome, Inc Life Technologies Natera Omixon Biocomputing Pacific Biosciences PerkinElmer, Inc. Life Sciences & Technology Prognosys Biosciences, Inc RainDance Technologies, Inc Seven Bridges Genomics Transgenomic, Inc DNA SEQUENCERS Diagenode Inc Illumina, Inc Ion Torrent Life Technologies Natera PRODUCT INDEX

308 306 PRODUCT AND SERVICE INDEX Pacific Biosciences RainDance Technologies, Inc Roche Applied Science DNA SEQUENCING ACCESSORIES BioNano Genomics, Inc Covaris Inc Diagenode Inc EdgeBio Epicentre (an Illumina company) Illumina, Inc IntegenX Inc Microsonic Systems Inc New England Biolabs, Inc RainDance Technologies, Inc Rubicon Genomics, Inc DNA SEQUENCING KITS Agilent Technologies Diagenode Inc EdgeBio Epicentre (an Illumina company) Epigentek Group Inc Kailos Genetics, Inc Natera Pacific Biosciences Rubicon Genomics, Inc USB products from Affymetrix Zymo Research Corporation DNA SEQUENCING SERVICES Ambry Genetics Athena Diagnostics Axeq Technologies BGI BioReliance Center for Inherited Disease Research (CIDR) Complete Genomics, Inc Connective Tissue Gene Tests EdgeBio Expression Analysis GeneDx Illumina, Inc Integrated DNA Technologies, Inc Knome, Inc Phalanx Biotech Group PreventionGenetics LLC Prognosys Biosciences, Inc Roche Applied Science SeqWright, Inc The University of Chicago Genetic Services DNA SEQUENCING SOLUTIONS BGI BioNano Genomics, Inc BioReliance CLC bio Diagenode Inc DNASTAR, Inc EdgeBio Epicentre (an Illumina company) Expression Analysis Genformatic Hitachi Solutions America Ltd Illumina, Inc IntegenX Inc Ion Torrent Natera Pacific Biosciences Prognosys Biosciences, Inc RainDance Technologies, Inc SeqWright, Inc Spiral Genetics DNA SHEARING Diagenode Inc DNA SIGNING & STR ANALYSIS Genformatic PreventionGenetics LLC SeqWright, Inc DNA SYNTHESIS PRODUCTS Gene Link, Inc Integrated DNA Technologies, Inc QIAGEN Inc Rubicon Genomics, Inc DNA WORKSTATION IntegenX Inc Microsonic Systems Inc QIAGEN Inc SciGene Tecan trinean DRI BLOCK HEATER SciGene DRUG TARGET/BIOMARKER DISCOVERY AND VALIDATION SeqWright, Inc DYES & LABELING REAGENTS AnaSpec Inc, Eurogentec Group EBV IMMORTALIZATION RUCDR EDUCATIONAL RESOURCES AGRE-Autism Genetic Resource Exchange Greenwood Genetic Center National Center for Biotechnology Information Office of Rare Diseases Research (NIH) POSSUM - Murdoch Childrens Research Institute Pubget, Inc Science/AAAS ELECTRONIC IMAGING SYSTEMS Applied Spectral Imaging, Inc Leica Microsystems Corp

309 PRODUCT AND SERVICE INDEX 307 ELECTROPHORESIS ACCESSORIES Embi Tec Sony DADC ELECTROPHORESIS BUFFERS Embi Tec SurModics USB products from Affymetrix ELECTROPHORESIS EQUIPMENT Advanced Analytical Agilent Technologies Bio-Rad Embi Tec QIAGEN Inc Sage Science Inc ELECTROPHORESIS PRECAST GELS Embi Tec Sage Science Inc EMPLOYMENT OPPORTUNITIES-CAREER RESOURCES Science/AAAS FACTOR V MUTATION ARUP Laboratories FACTOR V MUTATION TESTING ARUP Laboratories Athena Diagnostics Greenwood Genetic Center UCLA Clinical Genomics Center FAMILIAL MEDITERRANEAN FEVER UCLA Clinical Genomics Center FILMARRAY MULTIPLEX PCR MOLECULAR INFECTIOUS DISEASE TESTING PLATFORM BioFire Diagnostics FILTERS, CUSTOM Applied Spectral Imaging, Inc FILTERS, FILTER SETS Applied Spectral Imaging, Inc FILTERS, MULTICOLOR SETS Applied Spectral Imaging, Inc ENZYME-CONJUGATED ANTIBODIES AnaSpec Inc, Eurogentec Group Epigentek Group Inc SurModics ENZYME REPLACEMENT THERAPY BioMarin Pharmaceutical Inc Shire ENZYMES Bioline USA Inc Epicentre (an Illumina company) Epigentek Group Inc New England Biolabs, Inc QIAGEN Inc Roche Applied Science USB products from Affymetrix Zymo Research Corporation EPIGENETIC PRODUCTS Diagenode Inc EPIGENETIC SERVICES Center for Inherited Disease Research (CIDR) EXOME SEQUENCING, TARGETED SEQUENCING Axeq Technologies EXPRESSION ANALYSIS SOFTWARE BC Platforms Ltd PerkinElmer, Inc. Life Sciences & Technology Prognosys Biosciences, Inc Sequenom, Inc FISH SLIDE AUTOMATION EQUIPMENT SciGene FISH SYSTEMS Abbott Molecular Applied Spectral Imaging, Inc Leica Microsystems Corp MetaSystems Natera SciGene Tecan FISH TESTING Applied Spectral Imaging, Inc ARUP Laboratories Baylor College of Medicine, Medical Genetics Laboratories BlueGnome Limited Cincinnati Children s Hospital Medical Center Greenwood Genetic Center Leica Microsystems Corp MetaSystems PerkinElmer, Inc. Life Sciences & Technology SciGene Signature Genomics from PerkinElmer UCLA Clinical Genomics Center FLUORESCENCE IMAGE ANALYSIS EQUIPMENT Applied Spectral Imaging, Inc BioNano Genomics, Inc Innopsys Leica Microsystems Corp MetaSystems FLUORESCENCE REPORTER DYES Integrated DNA Technologies, Inc PRODUCT INDEX

310 308 PRODUCT AND SERVICE INDEX FLUORESCENT ANTIBODIES AnaSpec Inc, Eurogentec Group Leica Microsystems Corp MetaSystems SurModics FLUORESCENT FILTERS Leica Microsystems Corp MetaSystems Tecan FLUORESCENT IMAGING Bio-Rad Incom, Inc Innopsys Leica Microsystems Corp MetaSystems New England Biolabs, Inc NVIGEN FLUORESCENT SUBSTRATES AnaSpec Inc, Eurogentec Group FLUOROGENIC PROBES AnaSpec Inc, Eurogentec Group Applied Spectral Imaging, Inc MetaSystems FLUOROMETER Tecan trinean FRAGILE X TESTING ARUP Laboratories ASURAGEN, INC Athena Diagnostics Baylor College of Medicine, Medical Genetics Laboratories Cincinnati Children s Hospital Medical Center Emory Genetics Laboratory Greenwood Genetic Center Natera PerkinElmer, Inc. Life Sciences & Technology RUCDR Signature Genomics from PerkinElmer Transgenomic, Inc UCLA Clinical Genomics Center FREE BETA/PAPP-A SCREENING WITH NUCHAL TRANSLUCENCY (NT) ARUP Laboratories FREE BETA PRENATAL SCREENING ARUP Laboratories FREIDRICH S ATAXIA UCLA Clinical Genomics Center FRET PROBES AnaSpec Inc, Eurogentec Group Gene Link, Inc Integrated DNA Technologies, Inc GEL ELECTROPHORESIS EQUIPMENT Bio-Rad Diagenode Inc Embi Tec QIAGEN Inc GEL READING APPARATUS Embi Tec GENE AMPLIFICATION PROBES Gene Link, Inc Leica Microsystems Corp Natera QIAGEN Inc Rubicon Genomics, Inc GENE EXPRESSION MICROARRAYS Affymetrix, Inc Agilent Technologies Ambry Genetics BioDiscovery, Inc Expression Analysis Illumina, Inc Innopsys Life Technologies Natera Oxford Gene Technology PerkinElmer, Inc. Life Sciences & Technology Phalanx Biotech Group QIAGEN Inc RUCDR SeqWright, Inc Tecan GENE EXPRESSION PRODUCTS Affymetrix, Inc Agilent Technologies Beckman Coulter, Inc BGI BioDiscovery, Inc Bio-Rad Diagenode Inc Epicentre (an Illumina company) Illumina, Inc Ingenuity Systems, Inc Life Technologies NanoString Technologies, Inc PerkinElmer, Inc. Life Sciences & Technology Phalanx Biotech Group QIAGEN Inc Roche Applied Science Rubicon Genomics, Inc SciGene Sequenom, Inc SwitchGear Genomics Thermo Scientific

311 PRODUCT AND SERVICE INDEX 309 GENE FUNCTION DATABASES Biobase Corporation Hitachi Solutions America Ltd Ingenuity Systems, Inc Interactive Biosoftware Knome, Inc Prognosys Biosciences, Inc GENE MAPPING DATABASE BC Platforms Ltd Biobase Corporation Hitachi Solutions America Ltd Illumina, Inc Natera GENE MAPPING PRODUCTS Illumina, Inc Natera Pacific Biosciences PerkinElmer, Inc. Life Sciences & Technology RUCDR GENE SYNTHESIS Integrated DNA Technologies, Inc QIAGEN Inc Rubicon Genomics, Inc GENE TARGETING Applied StemCell, Inc Expression Analysis Natera Omixon Biocomputing QIAGEN Inc SeqWright, Inc Thermo Scientific GENETIC RESOURCE AGRE-Autism Genetic Resource Exchange Human Variome Project Int. Ltd Natera NextGxDx POSSUM - Murdoch Childrens Research Institute GENETIC TESTING - 1A+ MYOTONIC DYSTROPHY Athena Diagnostics GENETIC TESTING - A-1 ANTITRYPSIN DEFICIENCY Ambry Genetics ARUP Laboratories Recombine LLC GENETIC TESTING - ANGELMAN SYNDROME Ambry Genetics ARUP Laboratories Baylor College of Medicine, Medical Genetics Laboratories Emory Genetics Laboratory Greenwood Genetic Center MRC-Holland GENETIC TESTING - APOE GENOTYPING FOR HYPERLIPIDEMIA ARUP Laboratories GENETIC TESTING - BREAST & OVARIAN Expression Analysis MRC-Holland Myriad Genetic Laboratories Omixon Biocomputing GENE TARGETING REAGENTS & VECTORS Applied StemCell, Inc Gene Tools, LLC Natera SwitchGear Genomics Thermo Scientific GENE THERAPY PRODUCTS Applied StemCell, Inc QIAGEN Inc Therapeutics for Rare and Neglected Diseases GENETICALLY ENGINEERED MICE Amicus Therapeutics, Inc GENETIC COUNSELING & SERVICES Ambry Genetics Baylor College of Medicine, Medical Genetics Laboratories Greenwood Genetic Center Myriad Genetic Laboratories UCLA Clinical Genomics Center GENETIC TESTING - CANAVAN DISEASE Ambry Genetics ARUP Laboratories Baylor College of Medicine, Medical Genetics Laboratories MRC-Holland PreventionGenetics LLC Recombine LLC GENETIC TESTING - CHARCOT-MARIE-TOOTH Athena Diagnostics Baylor College of Medicine, Medical Genetics Laboratories Connective Tissue Gene Tests MRC-Holland PreventionGenetics LLC GENETIC TESTING - CYSTIC FIBROSIS Ambry Genetics ARUP Laboratories Athena Diagnostics Baylor College of Medicine, Medical Genetics Laboratories PRODUCT INDEX

312 310 PRODUCT AND SERVICE INDEX Emory Genetics Laboratory Greenwood Genetic Center MRC-Holland Natera PreventionGenetics LLC Recombine LLC UCLA Clinical Genomics Center GENETIC TESTING - DUCHENNE MUSCULAR DYSTROPHY Athena Diagnostics Emory Genetics Laboratory Greenwood Genetic Center MRC-Holland GENETIC TESTING - FACTOR V MUTATION ARUP Laboratories Athena Diagnostics Greenwood Genetic Center Recombine LLC UCLA Clinical Genomics Center GENETIC TESTING - FAP, DIRECT Ambry Genetics ARUP Laboratories Emory Genetics Laboratory Myriad Genetic Laboratories GENETIC TESTING - FRAGILE X Ambry Genetics ARUP Laboratories ASURAGEN, INC Athena Diagnostics Emory Genetics Laboratory Greenwood Genetic Center Natera Recombine LLC UCLA Clinical Genomics Center GENETIC TESTING - GAUCHER DISEASE Ambry Genetics ARUP Laboratories Baylor College of Medicine, Medical Genetics Laboratories Emory Genetics Laboratory Recombine LLC GENETIC TESTING - GENERAL Ambry Genetics Cincinnati Children s Hospital Medical Center Connective Tissue Gene Tests Emory Genetics Laboratory Expression Analysis GeneDx Genzyme, a Sanofi Company Greenwood Genetic Center Laboratory for Molecular Medicine, PCPGM MRC-Holland NextGxDx Recombine LLC Rubicon Genomics, Inc Transgenomic, Inc UCLA Clinical Genomics Center The University of Chicago Genetic Services GENETIC TESTING, GENERAL, INFORMATION RESOURCE GeneTests GENETIC TESTING - GILBERT SYNDROME Recombine LLC GENETIC TESTING - HEMOCHROMATOSIS ARUP Laboratories Greenwood Genetic Center MRC-Holland Recombine LLC UCLA Clinical Genomics Center GENETIC TESTING - HEMOPHILIAS ARUP Laboratories MRC-Holland Recombine LLC GENETIC TESTING - HNPCC, DIRECT Ambry Genetics ARUP Laboratories Emory Genetics Laboratory MRC-Holland Myriad Genetic Laboratories GENETIC TESTING - HNPCC-MS.I ARUP Laboratories Baylor College of Medicine, Medical Genetics Laboratories Emory Genetics Laboratory GENETIC TESTING INSTRUMENTATION - ATM GENE Illumina, Inc GENETIC TESTING INSTRUMENTATION - BREAST CANCER Illumina, Inc SciGene GENETIC TESTING INSTRUMENTATION - CYSTIC FIBROSIS Illumina, Inc SciGene GENETIC TESTING INSTRUMENTATION - GAUCHER DISEASE Genzyme, a Sanofi Company Illumina, Inc

313 PRODUCT AND SERVICE INDEX 311 GENETIC TESTING INSTRUMENTATION - LOSS OF HETEROZYGOSITY Illumina, Inc GENETIC TESTING INSTRUMENTATION - MUSCULAR DYSTROPHY Illumina, Inc GENETIC TESTING - LISSENCEPHALY SYNDROME MRC-Holland PreventionGenetics LLC GENETIC TESTING - NEUROFIBROMATOSIS 1, DIRECT ARUP Laboratories Athena Diagnostics Baylor College of Medicine, Medical Genetics Laboratories MRC-Holland UAB Medical Genomics Laboratory GENETIC TESTING - PRADER WILLIE SYNDROME Ambry Genetics ARUP Laboratories Baylor College of Medicine, Medical Genetics Laboratories Emory Genetics Laboratory Greenwood Genetic Center MRC-Holland Emory Genetics Laboratory MRC-Holland PreventionGenetics LLC Recombine LLC GENETIC TESTING - TELOMERE DELETIONS & REARRANGEMENTS Emory Genetics Laboratory GeneDx MRC-Holland GENETIC VARIATION SCREENING SERVICES Ambry Genetics Ariosa Diagnostics Connective Tissue Gene Tests Genformatic Innopsys Prognosys Biosciences, Inc RUCDR GENE TRANSFER DEVICE Bio-Rad GENE TRANSFER EQUIPMENT Bio-Rad GENOMATIX SOFTWARE INC. Genomatix Software GENOME VIEWER Hitachi Solutions America Ltd GENETIC TESTING - PROTHROMBIN (FACTOR II) MUTATION ARUP Laboratories Greenwood Genetic Center Recombine LLC GENETIC TESTING RESOURCE NextGxDx GENETIC TESTING - RETT SYNDROME Ambry Genetics ARUP Laboratories Athena Diagnostics Baylor College of Medicine, Medical Genetics Laboratories Emory Genetics Laboratory GeneDx Greenwood Genetic Center MRC-Holland GENETIC TESTING - SPINOCEREBELLAR ATAXIA 1 Athena Diagnostics MRC-Holland GENETIC TESTING - TAY SACHS Ambry Genetics ARUP Laboratories GENOMIC ANALYSIS REAGENTS BioNano Genomics, Inc BlueGnome Limited Illumina, Inc New England Biolabs, Inc Pacific Biosciences Roche Applied Science Rubicon Genomics, Inc SciGene Sequenom, Inc Thermo Scientific GENOMIC DNAS Advanced Analytical Ambry Genetics ASURAGEN, INC Bioline USA Inc Gene Link, Inc IntegenX Inc New England Biolabs, Inc QIAGEN Inc Rubicon Genomics, Inc SeqWright, Inc GENOMIC PURIFICATION Affymetrix, Inc Agilent Technologies PRODUCT INDEX

314 312 PRODUCT AND SERVICE INDEX BioReliance chemagen from PerkinElmer Gene Link, Inc IntegenX Inc Life Technologies PreventionGenetics LLC SeqWright, Inc GENOMIC PURIFICATION (DNA) Affymetrix, Inc AutoGen, Inc BioReliance chemagen from PerkinElmer Diagenode Inc DNA Genotek Epicentre (an Illumina company) Epigentek Group Inc Expression Analysis Gene Link, Inc IntegenX Inc QIAGEN Inc Rubicon Genomics, Inc SciGene SeqWright, Inc Tecan trinean Zymo Research Corporation GENOTYPING PRODUCTS Affymetrix, Inc Agilent Technologies Ambry Genetics Bioline USA Inc DNA Genotek Fluidigm Corporation Gene Codes Corporation Illumina, Inc Ingenuity Systems, Inc Innopsys IntegenX Inc Life Technologies New England Biolabs, Inc Pacific Biosciences QIAGEN Inc Roche Applied Science Rubicon Genomics, Inc Sequenom, Inc GENOTYPING SERVICES Affymetrix, Inc Ambry Genetics BGI BioReliance Center for Inherited Disease Research (CIDR) Emory Genetics Laboratory Expression Analysis Illumina, Inc Ingenuity Systems, Inc PreventionGenetics LLC Prognosys Biosciences, Inc QIAGEN Inc Recombine LLC RUCDR SeqWright, Inc UCLA Clinical Genomics Center GENOTYPING SERVICES FREE GENOTYPING Center for Inherited Disease Research (CIDR) GWAS AND COPY NUMBER/LOH ANALYSIS EpigenDx GWAS GENOTYPING Center for Inherited Disease Research (CIDR) HARVESTER SYSTEMS Genial Genetic Solutions/Rainbow Scientific, Inc HEATBLOCKS SciGene HEMOCHROMATOSIS ARUP Laboratories HIGH RESOLUTION MELTING ANALYSIS SYSTEMS BioFire Diagnostics HIGH RESOLUTION MELTING REAGENTS, MASTER MIXES BioFire Diagnostics HIGH RESOLUTION MELTING SOFTWARE BioFire Diagnostics HIGH-THROUGHPUT PRODUCTION Embi Tec Expression Analysis Illumina, Inc IntegenX Inc Integrated DNA Technologies, Inc Labcyte Inc Microsonic Systems Inc QIAGEN Inc RUCDR SciGene trinean HLA NEXT-GENERATION SEQUENCING ANALYSIS JSI medical systems GmbH HYBRIDIZATION INCUBATORS SciGene HYBRIDIZATION REAGENTS Phalanx Biotech Group

315 PRODUCT AND SERVICE INDEX 313 IDENTIFICATION Data Unlimited International, Inc DNA Genotek IntegenX Inc IHC INSTRUMENTATION Leica Microsystems Corp IMAGE ANALYZER Applied Spectral Imaging, Inc BioDiscovery, Inc Leica Microsystems Corp IMAGING PRODUCTS AnaSpec Inc, Eurogentec Group Applied Spectral Imaging, Inc BioDiscovery, Inc Embi Tec Incom, Inc Innopsys Leica Microsystems Corp Roche Applied Science IMMUNOASSAYS AnaSpec Inc, Eurogentec Group Applied Spectral Imaging, Inc Diagenode Inc Leica Microsystems Corp QIAGEN Inc INFERTILITY - DELETION Y DNA ANALYSIS ARUP Laboratories Innopsys Natera INFERTILITY TREATMENT Natera INFORMATION ABOUT RESEARCH FUNDING OPPORTUNITIES CIHR Institute of Genetics INFORMATION RESOURCE GeneTests NextGxDx Office of Rare Diseases Research (NIH) POSSUM - Murdoch Childrens Research Institute Seven Bridges Genomics University of Southern California, Information Sciences Institute INHIBIN ARUP Laboratories IN SITU HYBRIDIZATION ANALYSES BioReliance Leica Microsystems Corp MetaSystems IMMUNOCHEMICALS Applied Spectral Imaging, Inc SurModics IMMUNOHISTOCHEMISTRY AnaSpec Inc, Eurogentec Group Applied Spectral Imaging, Inc MetaSystems SurModics IMMUNOMAGNETIC BEADS Diagenode Inc INBORN ERRORS OF METABOLISM Amicus Therapeutics, Inc BioMarin Pharmaceutical Inc Cincinnati Children s Hospital Medical Center Greenwood Genetic Center PreventionGenetics LLC INCUBATORS SciGene IND ADVICE AND PRODUCT DEVELOPMENT PLANNING Therapeutics for Rare and Neglected Diseases INFECTIOUS DISEASE ANTIGENS SurModics IN SITU INSTRUMENTATION IntegenX Inc Leica Microsystems Corp SciGene Tecan INSTITUTIONAL & NOT-FOR-PROFIT EXHIBITORS Greenwood Genetic Center Science/AAAS Therapeutics for Rare and Neglected Diseases INTERNET-BASED INFORMATION RESOURCE Biobase Corporation GeneTests Human Variome Project Int. Ltd NextGxDx Office of Rare Diseases Research (NIH) Pubget, Inc Seven Bridges Genomics University of Southern California, Information Sciences Institute INTERPRETATION OF MEDICAL AND HEALTH IMPLICATIONS OF SNPS, INDELS, CNVS AND OTHER VARIANTS Genformatic IN VIVO - ELECTROPORATION Applied StemCell, Inc PRODUCT INDEX

316 314 PRODUCT AND SERVICE INDEX ISOLATION KITS Bioline USA Inc Epigentek Group Inc Exiqon New England Biolabs, Inc Phalanx Biotech Group QIAGEN Inc Zymo Research Corporation LAB AUTOMATION AND LIQUID HANDLING PerkinElmer, Inc. Life Sciences & Technology LABELED STREPTAVIDIN AnaSpec Inc, Eurogentec Group LABELS Data Unlimited International, Inc LABORATORY ANALYSIS SERVICES Applied Spectral Imaging, Inc BlueGnome Limited Expression Analysis Leica Microsystems Corp Rubicon Genomics, Inc RUCDR STARLIMS LABORATORY ANIMALS Applied StemCell, Inc LABORATORY DISPOSABLES Diagenode Inc LABORATORY - GENETIC TESTING & SERVICES Applied StemCell, Inc Ariosa Diagnostics ASURAGEN, INC Athena Diagnostics BlueGnome Limited Cincinnati Children s Hospital Medical Center Connective Tissue Gene Tests Diagenode Inc DNA Genotek Emory Genetics Laboratory Expression Analysis Gene Link, Inc Genformatic Greenwood Genetic Center JSI medical systems GmbH Laboratory for Molecular Medicine, PCPGM Leica Microsystems Corp Myriad Genetic Laboratories Natera PerkinElmer, Inc. Life Sciences & Technology PreventionGenetics LLC Rubicon Genomics, Inc RUCDR SeqWright, Inc Signature Genomics from PerkinElmer STARLIMS Transgenomic, Inc UAB Medical Genomics Laboratory UCLA Clinical Genomics Center LABORATORY INFORMATION MANAGEMENT SYSTEM Data Unlimited International, Inc LASER CAPTURE MICRODISSECTION Life Technologies Rubicon Genomics, Inc LIBRARY SCREENING SERVICES Applied StemCell, Inc Thermo Scientific LIQUID CULTURE MEDIA Irvine Scientific LIQUID HANDLING EQUIPMENT Embi Tec Hamilton Company Labcyte Inc SciGene Tecan LNA Exiqon LONG NON-CODING RNA EXPRESSION PROFILING NXT-Dx LUCIFERASE-BASED REPORTER PLASMIDS SwitchGear Genomics LUMINOMETER Tecan LYSOSOMAL STORAGE DISEASES Ambry Genetics Amicus Therapeutics, Inc BioMarin Pharmaceutical Inc Cincinnati Children s Hospital Medical Center Genzyme, a Sanofi Company Greenwood Genetic Center MACHINE LEARNING University of Southern California, Information Sciences Institute MAGNETIC PARTICLES chemagen from PerkinElmer MAGNETIC SEPARATORS chemagen from PerkinElmer Diagenode Inc New England Biolabs, Inc

317 PRODUCT AND SERVICE INDEX 315 MAGVIGEN MAGNETIC NANOPARTICLES FOR GENOMIC PURIFICATION NVIGEN MAPPING TOOLS BC Platforms Ltd BGI Biobase Corporation BioNano Genomics, Inc Knome, Inc MASS SPECS Agilent Technologies Integrated DNA Technologies, Inc QIAGEN Inc Sequenom, Inc MBD-BASED GENOME-WIDE METHYLATION SEQUENCING NXT-Dx MEDIA Applied StemCell, Inc Pubget, Inc MEDICAL JOURNALS JMG (BMJ Group) MEETING MANAGEMENT SERVICES FASEB MEETINGS AND COURSES Cold Spring Harbor Laboratory Press METABOLIC STUDIES Ambry Genetics Greenwood Genetic Center METHYLATION PCR ASURAGEN, INC METHYLOME SEQUENCING Axeq Technologies M-FISH Applied Spectral Imaging, Inc Leica Microsystems Corp MetaSystems MICROARRAY ANALYSIS SOFTWARE Partek Incorporated MICROARRAY BIOCHIP ANALYSIS Agilent Technologies Athena Diagnostics Baylor College of Medicine, Medical Genetics Laboratories Biobase Corporation BioDiscovery, Inc Coriell Institute for Medical Research Ingenuity Systems, Inc Innopsys PerkinElmer, Inc. Life Sciences & Technology Phalanx Biotech Group Signature Genomics from PerkinElmer MICROARRAY CHAMBERS AND CASSETTES SciGene MICROARRAY DATA MANAGEMENT SYSTEMS - DATABASE BC Platforms Ltd Biobase Corporation BioDiscovery, Inc BlueGnome Limited Cartagenia PerkinElmer, Inc. Life Sciences & Technology Signature Genomics from PerkinElmer MICROARRAYERS PerkinElmer, Inc. Life Sciences & Technology MICROARRAY REAGENTS Affymetrix, Inc Agilent Technologies BlueGnome Limited Epicentre (an Illumina company) Illumina, Inc Oxford Gene Technology Phalanx Biotech Group QIAGEN Inc Roche Applied Science Rubicon Genomics, Inc SurModics MICROARRAY SCANNERS Affymetrix, Inc Agilent Technologies Illumina, Inc Innopsys Roche Applied Science Tecan MICROARRAY SLIDES Agilent Technologies BlueGnome Limited Incom, Inc Oxford Gene Technology Phalanx Biotech Group Roche Applied Science Sony DADC SurModics MICRODELETION SYNDROME PROBES Greenwood Genetic Center MRC-Holland MICRODISSECTION Rubicon Genomics, Inc PRODUCT INDEX

318 316 PRODUCT AND SERVICE INDEX MICROFLUIDICS PerkinElmer, Inc. Life Sciences & Technology MICROPLATE FLUORESCENCE POLARIZATION READER Tecan MICROPLATE READERS & WASHERS Tecan trinean MICROPLATES Incom, Inc Sony DADC trinean MICROPLATE WASHERS Tecan MICRORNA Exiqon MICRORNA ANALYSIS Phalanx Biotech Group MICRORNA MICROARRAYS Phalanx Biotech Group MICRORNA SERVICE Phalanx Biotech Group MICROSCOPES Leica Microsystems Corp MetaSystems MINI-PREPS - 96 WELL QIAGEN Inc MIRNA EXPRESSION PROFILING NXT-Dx MITOCHONDRIAL DNA MUTATION TESTING Baylor College of Medicine, Medical Genetics Laboratories BioReliance Emory Genetics Laboratory GeneDx JSI medical systems GmbH MRC-Holland Transgenomic, Inc MLPA ANALYSIS JSI medical systems GmbH MOLECULAR BEACONS Gene Link, Inc MOLECULAR BEACON SYNTHESIS Gene Link, Inc MOLECULAR BIOLOGY REAGENTS Affymetrix, Inc Agilent Technologies ASURAGEN, INC BioFire Diagnostics Bioline USA Inc EdgeBio Epicentre (an Illumina company) Gene Link, Inc Gene Tools, LLC Life Technologies New England Biolabs, Inc Roche Applied Science Rubicon Genomics, Inc USB products from Affymetrix Zymo Research Corporation MOLECULAR DIAGNOSTICS Transgenomic, Inc MOLECULAR INFECTIONS DISEASE TESTING BioFire Diagnostics MOLECULAR MODELING SOFTWARE Ingenuity Systems, Inc MOUSE MODELS Applied StemCell, Inc mrna ISOLATION Bio-Rad BioReliance chemagen from PerkinElmer Exiqon New England Biolabs, Inc Prognosys Biosciences, Inc QIAGEN Inc Roche Applied Science SeqWright, Inc Zymo Research Corporation mrna PURIFICATION KIT Affymetrix, Inc Bio-Rad chemagen from PerkinElmer Epicentre (an Illumina company) Gene Link, Inc Tecan Zymo Research Corporation MUTATION DETECTION Ambry Genetics ASURAGEN, INC Bio-Rad Boreal Genomics Cincinnati Children s Hospital Medical Center Emory Genetics Laboratory Human Variome Project Int. Ltd Illumina, Inc

319 PRODUCT AND SERVICE INDEX 317 Interactive Biosoftware JSI medical systems GmbH MRC-Holland Myriad Genetic Laboratories Omixon Biocomputing Pacific Biosciences Prognosys Biosciences, Inc Rubicon Genomics, Inc Seven Bridges Genomics Transgenomic, Inc UCLA Clinical Genomics Center MUTATION INTERPRETATION Interactive Biosoftware MYCOPLASMA DETECTION SYSTEMS RUCDR NDAR FEDERATION AGRE-Autism Genetic Resource Exchange NEUROGENETIC TESTING SERVICES Athena Diagnostics Emory Genetics Laboratory GeneDx PreventionGenetics LLC NEUROLOGICAL TESTING SERVICES Athena Diagnostics NEW TECHNOLOGY REVIEWS Science/AAAS NEXT-GENERATION SEQUENCING SeqWright, Inc NEXT-GENERATION SEQUENCING ANALYSIS JSI medical systems GmbH NEXT GENERATION SEQUENCING ANALYSIS Seven Bridges Genomics NGS SOFTWARE Interactive Biosoftware NONCODING RNA Exiqon NONINVASIVE PRENATAL TESTING Ariosa Diagnostics NONISOTOPIC REAGENTS Gene Link, Inc NONRADIOACTIVE LABELING PRODUCTS Gene Link, Inc NON-UV LIGHT BOX Embi Tec NUCLEIC ACID ISOLATIONS Bioline USA Inc chemagen from PerkinElmer EdgeBio Expression Analysis Gene Link, Inc Phalanx Biotech Group Prognosys Biosciences, Inc Roche Applied Science Rubicon Genomics, Inc RUCDR SeqWright, Inc Zymo Research Corporation NUCLEIC ACID KITS chemagen from PerkinElmer EdgeBio Gene Link, Inc IntegenX Inc New England Biolabs, Inc Phalanx Biotech Group Rubicon Genomics, Inc Zymo Research Corporation NEXT-GENERATION SEQUENCING ANALYSIS SOFTWARE Partek Incorporated NEXT-GENERATION SEQUENCING LIBRARY PREPARATION Advanced Analytical NEXTGEN SEQUENCING SAMPLE PREP Epicentre (an Illumina company) NGS DATA ANALYSIS Interactive Biosoftware NUCLEIC ACID PURIFICATION Affymetrix, Inc AutoGen, Inc chemagen from PerkinElmer DNA Genotek EdgeBio Epigentek Group Inc Gene Link, Inc Integrated DNA Technologies, Inc Life Technologies QIAGEN Inc SeqWright, Inc Tecan trinean Zymo Research Corporation PRODUCT INDEX

320 318 PRODUCT AND SERVICE INDEX NUCLEIC ACID QUANTITATION KITS Agilent Technologies ASURAGEN, INC BioNano Genomics, Inc Zymo Research Corporation NUCLEIC ACID STABILIZATION REAGENTS DNA Genotek IntegenX Inc Zymo Research Corporation OEM MANUFACTURING ASURAGEN, INC BioFire Diagnostics chemagen from PerkinElmer Integrated DNA Technologies, Inc New England Biolabs, Inc Rubicon Genomics, Inc Zymo Research Corporation OLIGO ANNEALING Gene Link, Inc SeqWright, Inc OLIGONUCLEOTIDE PURIFICATION AnaSpec Inc, Eurogentec Group Gene Link, Inc Integrated DNA Technologies, Inc trinean Zymo Research Corporation OLIGONUCLEOTIDES AnaSpec Inc, Eurogentec Group Bio-Rad Exiqon Gene Link, Inc Gene Tools, LLC Integrated DNA Technologies, Inc Oxford Gene Technology Therapeutics for Rare and Neglected Diseases ONCOLOGY CLINICAL TRIALS Transgenomic, Inc ONCOLOGY DIAGNOSTIC TOOLS Transgenomic, Inc ONCOLOGY PRECLINICAL TRIALS Transgenomic, Inc OVENS SciGene PCR ENZYMES Affymetrix, Inc Agilent Technologies Bioline USA Inc Epicentre (an Illumina company) Kapa Biosystems Inc New England Biolabs, Inc Roche Applied Science USB products from Affymetrix PCR PLASTICS EdgeBio Thermo Scientific PCR/PRIMER DESIGN SOFTWARE Integrated DNA Technologies, Inc PCR PURIFICATION - 96 WELL chemagen from PerkinElmer EdgeBio Life Technologies RUCDR SeqWright, Inc Tecan USB products from Affymetrix Zymo Research Corporation PCR-RELATED PRODUCTS Affymetrix, Inc Agilent Technologies AnaSpec Inc, Eurogentec Group ASURAGEN, INC BC Platforms Ltd BioFire Diagnostics Bioline USA Inc Diagenode Inc EdgeBio Embi Tec Exiqon Fluidigm Corporation Illumina, Inc Incom, Inc IntegenX Inc Labcyte Inc New England Biolabs, Inc RainDance Technologies, Inc Streck Thermo Scientific USB products from Affymetrix PEDIGREE DRAWING SOFTWARE Progeny Software, LLC PEPTIDE ANTIBODIES AnaSpec Inc, Eurogentec Group Diagenode Inc Epigentek Group Inc NVIGEN PEPTIDES (CUSTOM) AnaSpec Inc, Eurogentec Group Therapeutics for Rare and Neglected Diseases PEPTIDE SYNTHESIS REAGENTS AnaSpec Inc, Eurogentec Group

321 PRODUCT AND SERVICE INDEX 319 PHARMACEUTICALS Amicus Therapeutics, Inc BioMarin Pharmaceutical Inc Rare Disease Therapeutics, Inc Therapeutics for Rare and Neglected Diseases PHARMACOGENETIC TESTING SERVICES Ambry Genetics Baylor College of Medicine, Medical Genetics Laboratories BioReliance Boreal Genomics Expression Analysis Genformatic PHARMACOGENOMIC SERVICES SeqWright, Inc PHENOTYPE MAPPING University of Southern California, Information Sciences Institute Integrated DNA Technologies, Inc Thermo Scientific PROBES AnaSpec Inc, Eurogentec Group Applied Spectral Imaging, Inc Exiqon Gene Link, Inc Integrated DNA Technologies, Inc MetaSystems MRC-Holland Prognosys Biosciences, Inc Thermo Scientific PROBES - CANCER Applied Spectral Imaging, Inc Exiqon MRC-Holland PerkinElmer, Inc. Life Sciences & Technology Prognosys Biosciences, Inc Signature Genomics from PerkinElmer PHOTOGRAPHIC EQUIPMENT Embi Tec PIPETTES Hamilton Company PK/ADME Therapeutics for Rare and Neglected Diseases PLASMID PURIFICATION Affymetrix, Inc AutoGen, Inc EdgeBio SeqWright, Inc trinean USB products from Affymetrix Zymo Research Corporation PLASTIC LABORATORY WARE SciGene POLYMORPHIC GENETIC MARKERS BC Platforms Ltd PRECAST ACRYLAMIDE GELS Embi Tec PRECAST AGAROSE GELS Embi Tec Sage Science Inc PRENATAL INTERPRETIVE SOFTWARE Genformatic PRIMERS AnaSpec Inc, Eurogentec Group ASURAGEN, INC Exiqon PROTEIN DETECTION Innopsys NVIGEN PROTEIN EXPRESSION KIT New England Biolabs, Inc PROTEIN PURIFICATION New England Biolabs, Inc NVIGEN Tecan trinean USB products from Affymetrix PROTEIN SEQUENCE ANALYSIS SOFTWARE Knome, Inc PROTEOMIC SERVICES BGI PUBLICATIONS JMG (BMJ Group) PUBLISHER Science/AAAS PUBLISHING JMG (BMJ Group) PURIFICATION SYSTEMS SciGene qpcr ANALYSIS SOFTWARE Partek Incorporated qpcr PROBES AnaSpec Inc, Eurogentec Group Bioline USA Inc PRODUCT INDEX

322 320 PRODUCT AND SERVICE INDEX Exiqon Illumina, Inc Integrated DNA Technologies, Inc Roche Applied Science Thermo Scientific QUALITY CONTROL SOFTWARE BC Platforms Ltd Data Unlimited International, Inc GeneInsight Genial Genetic Solutions/Rainbow Scientific, Inc QUANTITATIVE EXPRESSION ANALYSIS Affymetrix, Inc Biobase Corporation BioReliance Exiqon Fluidigm Corporation NanoString Technologies, Inc Prognosys Biosciences, Inc Sequenom, Inc SeqWright, Inc Thermo Scientific QUANTITATIVE PCR ANALYSIS SYSTEM Agilent Technologies ASURAGEN, INC Exiqon Fluidigm Corporation Life Technologies NanoString Technologies, Inc Roche Applied Science Thermo Scientific QUENCHER AnaSpec Inc, Eurogentec Group Integrated DNA Technologies, Inc REAGENTS Agilent Technologies AnaSpec Inc, Eurogentec Group ASURAGEN, INC Beckman Coulter, Inc BioFire Diagnostics Bioline USA Inc Diagenode Inc Exiqon Gene Tools, LLC Genial Genetic Solutions/Rainbow Scientific, Inc IntegenX Inc Integrated DNA Technologies, Inc NanoString Technologies, Inc New England Biolabs, Inc NVIGEN Rubicon Genomics, Inc Thermo Scientific USB products from Affymetrix REFERENCE LABORATORY TESTING Athena Diagnostics Cincinnati Children s Hospital Medical Center Laboratory for Molecular Medicine, PCPGM PreventionGenetics LLC Transgenomic, Inc UCLA Clinical Genomics Center REPORTER ASSAYS SwitchGear Genomics RESEARCH DATABASE AGRE-Autism Genetic Resource Exchange BC Platforms Ltd Biobase Corporation Interactive Biosoftware Progeny Software, LLC Pubget, Inc Sanford Research University of Southern California, Information Sciences Institute RESEARCH GRANTS & FELLOWSHIPS AGRE-Autism Genetic Resource Exchange CIHR Institute of Genetics RETROVIRAL EXPRESSION SYSTEM Thermo Scientific RISK ASSESSMENT Ambry Genetics RNA Advanced Analytical BioReliance Coriell Institute for Medical Research DNA Genotek Exiqon Expression Analysis Illumina, Inc Integrated DNA Technologies, Inc NanoString Technologies, Inc Prognosys Biosciences, Inc Seven Bridges Genomics Thermo Scientific RNA/DNA/PROTEIN PURIFICATION FROM THE SAME SAMPLE Norgen Biotek Corp RNA ISOLATION Bio-Rad BioReliance chemagen from PerkinElmer Epicentre (an Illumina company) Exiqon Expression Analysis Life Technologies New England Biolabs, Inc NVIGEN

323 PRODUCT AND SERVICE INDEX 321 Phalanx Biotech Group Prognosys Biosciences, Inc Roche Applied Science RNA ISOLATION KITS AutoGen, Inc Bioline USA Inc Bio-Rad chemagen from PerkinElmer Diagenode Inc Exiqon New England Biolabs, Inc Phalanx Biotech Group Zymo Research Corporation RNA MARKERS Affymetrix, Inc New England Biolabs, Inc RNA/MICRORNA PURIFICATION KITS Norgen Biotek Corp RNA PURIFICATION Affymetrix, Inc BioReliance Expression Analysis Life Technologies NVIGEN trinean USB products from Affymetrix RNA PURIFICATION KITS Affymetrix, Inc Agilent Technologies AutoGen, Inc NVIGEN USB products from Affymetrix Zymo Research Corporation RNA-SEQ SAMPLE PREP KITS Epicentre (an Illumina company) RNA SEQUENCING NXT-Dx RNA SYNTHESIS PRODUCTS AnaSpec Inc, Eurogentec Group Exiqon IntegenX Inc Integrated DNA Technologies, Inc ROBOTIC ARRAYING SYSTEMS Labcyte Inc ROBOTIC COLONY PICKERS Hamilton Company ROBOTIC SAMPLE PROCESSORS Agilent Technologies Diagenode Inc Hamilton Company IntegenX Inc Microsonic Systems Inc SciGene Tecan ROBOTIC SUPPLIES Tecan ROBOTIC WORKSTATIONS Agilent Technologies Beckman Coulter, Inc chemagen from PerkinElmer Diagenode Inc Hamilton Company Microsonic Systems Inc SciGene Tecan trinean RT-PCR KITS AnaSpec Inc, Eurogentec Group ASURAGEN, INC BioFire Diagnostics Bioline USA Inc Epicentre (an Illumina company) Exiqon Illumina, Inc Integrated DNA Technologies, Inc Life Technologies New England Biolabs, Inc Roche Applied Science Thermo Scientific USB products from Affymetrix SALIVA DNA COLLECTION KITS Norgen Biotek Corp SALIVA DNA PURIFICATION KITS Norgen Biotek Corp SAMPLE ARCHIVING DNA Genotek Epicentre (an Illumina company) IntegenX Inc SAMPLE INVENTORY MANAGEMENT SOLUTIONS Data Unlimited International, Inc IntegenX Inc Progeny Software, LLC SAMPLE PREPARATION BC Platforms Ltd Beckman Coulter, Inc Covaris Inc Diagenode Inc DNA Genotek Epigentek Group Inc Expression Analysis PRODUCT INDEX

324 322 PRODUCT AND SERVICE INDEX IntegenX Inc Life Technologies Microsonic Systems Inc New England Biolabs, Inc Prognosys Biosciences, Inc RainDance Technologies, Inc Rubicon Genomics, Inc Sage Science Inc SciGene Tecan trinean Zymo Research Corporation SCIENTIFIC ASSOCIATION Science/AAAS SCREENING TESTS Applied StemCell, Inc BioReliance Greenwood Genetic Center MRC-Holland Thermo Scientific SEQUENCE ALIGNMENT AND VARIANT CALLING Genformatic SEQUENCE ANALYSIS SOFTWARE BC Platforms Ltd Cartagenia CLC bio DNASTAR, Inc EdgeBio Enlis Genomics Genformatic Hitachi Solutions America Ltd Illumina, Inc Integrated DNA Technologies, Inc Interactive Biosoftware JSI medical systems GmbH Knome, Inc Life Technologies Omixon Biocomputing Palmyra Software PerkinElmer, Inc. Life Sciences & Technology Prognosys Biosciences, Inc Seven Bridges Genomics Spiral Genetics SEQUENCING ACCESSORIES Diagenode Inc EdgeBio Epicentre (an Illumina company) Illumina, Inc IntegenX Inc Microsonic Systems Inc New England Biolabs, Inc SEQUENCING BUFFERS EdgeBio Life Technologies USB products from Affymetrix SEQUENCING QC FOR PRIMERS Prognosys Biosciences, Inc SEQUENCING SERVICES Axeq Technologies Baylor College of Medicine, Medical Genetics Laboratories BGI BioReliance Center for Inherited Disease Research (CIDR) Complete Genomics, Inc EdgeBio Emory Genetics Laboratory Expression Analysis GeneDx Genformatic Illumina, Inc Knome, Inc Myriad Genetic Laboratories PreventionGenetics LLC Prognosys Biosciences, Inc RUCDR SeqWright, Inc UCLA Clinical Genomics Center Zymo Research Corporation SERUM Exiqon SIGNAL AMPLIFICATION Natera SNP ANALYTICAL SERVICES Axeq Technologies BioReliance EdgeBio Expression Analysis Genformatic Golden Helix, Inc Knome, Inc PerkinElmer, Inc. Life Sciences & Technology Prognosys Biosciences, Inc RUCDR SeqWright, Inc Seven Bridges Genomics Signature Genomics from PerkinElmer UCLA Clinical Genomics Center SNP DETECTION PROBES Integrated DNA Technologies, Inc Natera

325 PRODUCT AND SERVICE INDEX 323 SNP GENOTYPING ANALYSIS EpigenDx SNP SCORING BioReliance Enlis Genomics Interactive Biosoftware SNP SCREENING Ambry Genetics BioFire Diagnostics Enlis Genomics Fluidigm Corporation Genformatic Interactive Biosoftware Life Technologies Pacific Biosciences Seven Bridges Genomics SOCIETY European Human Genetics Conference SOFTWARE Applied Spectral Imaging, Inc BC Platforms Ltd CLC bio Data Unlimited International, Inc DNAnexus, Inc DNASTAR, Inc Enlis Genomics GeneInsight Genformatic Genial Genetic Solutions/Rainbow Scientific, Inc GenoLogics Golden Helix, Inc Ingenuity Systems, Inc Interactive Biosoftware JSI medical systems GmbH Knome, Inc Leica Microsystems Corp National Center for Biotechnology Information NextGxDx Omixon Biocomputing Oxford Gene Technology Palmyra Software Partek Incorporated POSSUM - Murdoch Childrens Research Institute Progeny Software, LLC SCC Soft Computer Seven Bridges Genomics Spiral Genetics STARLIMS SOFTWARE AND DATABASE TOOLS FOR VARIANT TRIAGE AND LAB REPORTING AUTOMATION Cartagenia SOFTWARE - ARRAY ANALYSIS Agilent Technologies BC Platforms Ltd Biobase Corporation BioDiscovery, Inc BlueGnome Limited Cartagenia DNASTAR, Inc Golden Helix, Inc Ingenuity Systems, Inc Oxford Gene Technology PerkinElmer, Inc. Life Sciences & Technology Phalanx Biotech Group Signature Genomics from PerkinElmer SOFTWARE - DATA MANAGING AGRE-Autism Genetic Resource Exchange BC Platforms Ltd BioDiscovery, Inc BlueGnome Limited Cartagenia CLC bio Data Unlimited International, Inc GeneInsight Genformatic GenoLogics Hitachi Solutions America Ltd Interactive Biosoftware PerkinElmer, Inc. Life Sciences & Technology Progeny Software, LLC SCC Soft Computer STARLIMS SOFTWARE - PEDIGREE DRAWING BC Platforms Ltd Progeny Software, LLC SOLID PHASE EXTRACTION Hamilton Company SONICATORS & ACCESSORIES Diagenode Inc SPECTROPHOTOMETER trinean SPIN COLUMNS Zymo Research Corporation STATISTICAL GENETICS CONSULTATION Center for Inherited Disease Research (CIDR) STORAGE PRODUCTS DNA Genotek EMC Isilon SYRINGES Hamilton Company PRODUCT INDEX

326 324 PRODUCT AND SERVICE INDEX TARGET ENRICHMENT KITS Prognosys Biosciences, Inc TELOMERE SPECIFIC PROBES Cytocell Ltd/Rainbow Scientific, Inc MRC-Holland TEMPLATE PREPARATION KITS Pacific Biosciences TEST KITS Applied Spectral Imaging, Inc Myriad Genetic Laboratories Transgenomic, Inc THERMAL CYCLERS Agilent Technologies Bio-Rad Life Technologies SciGene Streck THERMAL PLATE SEALER Bio-Rad THERMAL PROFILING SYSTEMS SciGene THERMOSTABLE DNA POLYMERASE Affymetrix, Inc New England Biolabs, Inc USB products from Affymetrix TISSUE CULTURE MEDIA Life Technologies TISSUE CULTURES BioReliance TISSUE MICROSCOPY PerkinElmer, Inc. Life Sciences & Technology TOXICITY TESTS Myriad Genetic Laboratories Therapeutics for Rare and Neglected Diseases TRAINING Emory Genetics Laboratory Laboratory for Molecular Medicine, PCPGM TRAINING COURSES BlueGnome Limited Human Variome Project Int. Ltd TRANSCRIPTION REAGENTS New England Biolabs, Inc TRANSCRIPTOME Axeq Technologies TRANSFECTION REAGENTS New England Biolabs, Inc Thermo Scientific USB products from Affymetrix TRAVEL AWARDS FASEB TRISOMY DETECTION Ariosa Diagnostics TWIN ZYGOSITY TESTING UCLA Clinical Genomics Center ULTRAVIOLET PRODUCTS - TRANSILLUMINATORS Embi Tec UPD TESTING Greenwood Genetic Center UV/VIS SPECTROPHOTOMETERS trinean VARIANT ANNOTATION AND PREDICTION OF PROBABLE PHENOTYPIC EFFECT OF VARIANTS Genformatic VIDEO CAMERAS (COLOR) FOR MICROSCOPY Applied Spectral Imaging, Inc WATER BATHS SciGene WESTERN BLOTTING EQUIPMENT Bio-Rad Tecan WESTERN BLOTTING KITS Bio-Rad WHOLE EXOME SEQUENCING Center for Inherited Disease Research (CIDR) UCLA Clinical Genomics Center WHOLE GENOME AND EXOME ANALYSIS Genformatic WHOLE GENOME SEQUENCING Axeq Technologies YEAST TWO-HYBRID SYSTEMS Thermo Scientific

327 CMEs and CEUs Poster Sessions are not eligible for CME or CEU credits CMEs and CEUs 325 For questions, contact Continuing Medical Education Credits (CMEs) The ASHG 2012 Annual Meeting has been planned and implemented in accordance with the Essential Areas and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint sponsorship of the American College of Medical Genetics and Genomics (ACMG) and ASHG. ACMG is accredited by the ACCME to provide continuing medical education for physicians. All educational programming is developed and must be presented in compliance with all ACCME accreditation requirements and therefore, ACMG designates this educational activity for a maximum of AMA PRA Category 1 Credit(s) TM. Physicians should only claim credit commensurate with the extent of their participation in the activity. CMEs and CEUs Procedures: There is a non-refundable $45 fee payable during the registration process. You can apply for credits through the online application available November 10, The deadline to submit your request is December 28, Attendees may pick up self-reporting tracking forms in either the ASHG Office, Room 111 or at the Information Counter located in the Registration Area, North Lobby of the Moscone Center. Please see section below for the learning objectives, target audience, disclosure policy and a list of authors with disclosures of potential conflicts of interest. MDs and PhDs should apply for CMEs. The American Board of Medical Genetics (ABMG) will accept CMEs for MDs or PhDs participating in the Maintenance of Certification (MOC) program in any ABMG specialty. Continuing Education Unit Credits (CEUs) for California-Licensed Clinical and Molecular Laboratory Directors ASHG has been approved for Continuing Education Units for up to 24.5 units through the Professional Acknowledgment for Continuing Education (P.A.C.E. ) program for California-Licensed Clinical and Molecular Laboratory Directors. Procedures: There is a non-refundable $35 fee payable during the registration process. Those who registered in advance received an with instructions and a copy of the self-reporting tracking. You may also pick up your CEU packet in the ASHG Meeting Office, Room 111. The deadline to submit your request for PACE credits is Monday, December 3, No requests will be taken after this date. Clinical Laboratory Scientists should apply for PACE CEUs. ABMG will accept PACE CEUs for diplomats participating in the MOC program in the following categories: Clinical Biochemical Geneticist, Clinical Cytogeneticist, and Clinical Molecular Geneticist.

328 326 CMEs and CEUs Continuing Education Unit Credits (CEUs) for Genetic Counselors ASHG has been approved for up to Category 1 CEU credits (25 contact hours) for genetic counselors through the National Society of Genetic Counselors (NSGC). NSGC is approved as an authorized provider of continuing education and training by the International Association for Continuing Education and Training (IACET). Procedures: There is a non-refundable $40 fee payable during the registration process. Registrants MUST apply for credits via the online submission system after the meeting. The submission site will open on Saturday, November 10, The deadline to request credits is Monday, December 3, No submissions will be taken after this deadline. You will need your registration ID in order to successfully complete the CEU application. Those who registered in advance received an with instructions and a copy of the tracking form. For your convenience, tracking forms will also be available in the ASHG Meeting Office, Room 111 or at the Information Center located in the Registration Area, North Lobby. Genetic Counselors and Nurses should apply for CEUs. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of certification and recertification. ASHG 2012 Learning Objectives All attendees obtaining CME credits will be able to apply the newly acquired knowledge and methods in the evaluation, diagnosis, intervention, treatment and follow-up of patients with a variety of disorders. At the completion of the meeting, participants will be able to: (1) recognize gaps in knowledge of facts and new methods in genetics; (2) demonstrate ways that the new information and its context may be applied in their own practices; (3) better interpret results of complex genetic tests and recognize instances of most appropriate use; and (4) understand in detail the benefits and potential harms of utilizing the newest genetic technologies. The 2012 ASHG Annual Meeting will help attendees to: Identify and fill gaps in knowledge in human genetics in areas of statistical analysis, full genome sequencing, next-generation sequencing, genetic neurodegenerative and other disorders, and epigenetics. Explain the value and use of newest technological methods in full genome sequencing in diagnosis of disorders and family studies. Provide context from discussions on the benefits and harms of returning results of full genome sequencing to patients. Set principles for the provision of results and their interpretation in full genome sequencing and the diagnosis of genetic risks and explain how genome sequencing may be useful in an undiagnosed patient. Accrue guidelines for the successful counseling of patients receiving complex genetic results. Present the newest results of gene therapy trials so clinicians may enroll patients or apply therapies to appropriate patents. Identify and explain the newest non-invasive pre-natal diagnostic methods. Integrate results of genomic testing into electronic health records and other methods to store information.

329 CMEs and CEUs 327 Recognize methods to utilize centralized databases in the diagnosis and treatment of patients. ASHG 2012 Target Audience This meeting is targeted to research scientists, clinical and laboratory practitioners and others interested in the field of human genetics and genomics. There is some special focus on workshops intended for trainees. The program is varied so that participants may select from several concurrent sessions that fit their specialized research interests and clinical practice applications. CMEs and CEUs Program Format Invited Sessions The 2012 program is highlighted by 24 invited scientific sessions that have been scheduled over three concurrent time periods. The Program Committee reviewed 95 proposals for invited sessions. The review process took into consideration the merit and timeliness of each proposal as well as the need to balance topics in the overall scientific program. The sessions highlight a wide range of topics of interest to genetics practitioners, researchers and counselors. Any conflicts were managed in the process described above. Plenary Session Presentations and Platform Sessions (abstract-driven) The Plenary Session includes a diverse set of six presentations, selected from the top-rated abstracts submitted for this year s annual meeting as determined by the 2012 Program Committee. Forty-five abstract-driven platform sessions totaling 405 oral presentations have been programmed. There are five sets of nine concurrent platform sessions. The Program Committee had the difficult task of determining which abstracts would be accepted, and in what presentation format. Below is a brief description of how this task was performed: 1. Based on the author s topic preference and keyword selection, an abstract was initially reviewed by the Program Committee member responsible for that topic. If it was determined that the abstract would be more appropriately categorized under another topic, it was transferred to that topic. Sub-topic designations were helpful in assigning abstracts to the most appropriate topic. 2. Each abstract was then electronically sent to three reviewers (including a Program Committee member) who are experts in the field. Each reviewer scored the abstracts independently and without knowledge of the score given by the other reviewers. Abstracts were then assigned a score from 1 (highest priority) to 8 (reject). The best cumulative score that an abstract could obtain from all three reviewers was a 3 (1+1+1). Any conflicts were managed in the process described above. 3. In general, abstracts receiving scores within the top 8% for each topic were selected for platform (oral) presentations. The number of available oral

330 328 CMEs and CEUs presentations for a given topic was in rough proportion to the number of abstracts submitted for that topic, with some discretion given to the Program Committee to adjust for the quality of abstracts in each topic in a given year. This created a total number of 411 oral presentations. 4. The top scoring abstracts from each topic were then considered by the Program Committee for possible inclusion in the plenary session. Selection of plenary session presentations was based not only on the cumulative scores, but also on the impact of the science being presented and the balance of topics in the session. Six abstracts were finally chosen to constitute the plenary session in recognition of the speed at which new, high-impact scientific discoveries are now being made in human genetics. 5. The concurrent platform sessions were then assembled from the remaining 405 abstracts chosen for oral presentations (step 3 above, minus the 6 plenary abstracts). Within the constraints that each concurrent session has exactly nine abstracts, these platform sessions typically contain abstracts grouped by topic/approach. Some of the platform sessions are multidisciplinary sessions centered around a topic and are designed to bring together investigators interested in that topic from diverse areas of genetics. RECORDED PRESENTATIONS AVAILABLE AFTER THE MEETING Invited Sessions, Award Presentations, and the Plenary Sessions will be recorded and posted on the Web site after the meeting. These recordings are free to meeting registrants. Visit the ASHG Web site in early December to view these presentations.

331 SPEAKER AND AUTHOR DISCLOSURES In accordance with the Accreditation Council for Continuing Medical Education through the joint sponsorship of the American College of Medical Genetics and Genomics (ACMG) and ASHG, all faculty, speakers and moderators must disclose the existence of any financial interest and/or other relationship(s) they might have with the manufacturer(s) or provider(s) of any commercial product(s) or service(s) to be discussed during their presentation: receiving a salary, royalty, intellectual property rights, consulting fee, honoraria, ownership interest (e.g., stocks, stock options or other ownership interest, excluding diversified mutual funds), or other financial benefit. Financial benefits are usually associated with roles such as employment, management position, independent contractor (including contracted research), consulting, speaking and teaching, membership on advisory committees or review panels, board membership, and other activities for which remuneration is received or expected. 329 SPEAKER/AUTHOR DISCLOSURES If members of the ASHG 2012 Program Committee indicated a relationship which could be perceived by some as a real or apparent conflict of interest in planning the program, the committee member refrained from discussion. The following presenters have indicated a relationship that within the context of their presentation could be perceived by some as a real or apparent conflict of interest but do not consider that it will influence their presentation. The disclosures have been reviewed and conflict of interest resolved or managed. The number following each company name represents the specific relationship from the list below. 1. Stock options or bond holdings in a for-profit corporation or self-directed pension plan 2. Research grants, other grants, scholarships, or fellowships 3. Employment (full or part-time) 4. Ownership or partnership 5. Consulting fees or other remuneration 6. Non-remunerative positions of influence such as officer, board member, trustee, or public spokesperson 7. Receipt of royalties 8. Speakers' bureau 9. Receive substantial in-kind or donated goods or services 10. Inventor/patent owner 11. Advisor 12. Collaboration 13. Company owner 14. Receipt of travel grants/honoraria 15. Other If a presentation is in a platform session, the abstract number is added in parentheses. If a presenter or organizer is not listed, then that person had no relationship to disclose. Disclosures will also be included in presentation slides.

332 330 SPEAKER AND AUTHOR DISCLOSURES Abecasis, G., University of Michigan/ArticDx - 7; GlaxoSmithKline - 2 (Session 7) Ahmed, A., Genzyme Corporation - 2 (715) Andersen, M., Life Technologies - 3; Life Technologies - 1 (1237) Aradhya, S., GeneDx - 3 (332) Bachmeyer, R. C., Kailos Genetics Inc. - 1, 3, 4, 6 (3527) Bai, R., GeneDx - 3 (330) Ballif, B. C., Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, - 3 (884) Basel-Vanagaite, L., FDNA Ltd., Herzlyia, Israel - 5 (3185) Bauer, P., Actelion Pharmaceuticals Ltd - 5 (684) Baxter, S., GeneDx - 3 (1676) Bergstrom Lucas, A., Agilent Technologies - 3 (3726) Berman, J. R., Bio-Rad Laboratories - 3 (3690) Bianchi, D., Verinata Health, Inc. - 1, 2, 5, 11, 12; McGraw-Hill - 7; Wiley-Blackwell - 3 (Session 79) Bibikova, M., Illumina, Inc. - 1, 3 (1238) Biesecker, L. G., Wiley Blackwell - 5; Illumina Corp - 6 (Session 73) Billaud, J., Ingenuity Systems - 3 (3677) Bishop, J., Life Technologies - 3 (3719) Blangero, J., Eli Lilly and Co - 2 (Session 8) Bloom, R. J., Agilent Technologies - 9, 12; Pacific Biosciences - 9, 12 (3659) Bombard, A. T., Sequenom, Inc. - 1, 3; UCSD - 3, 12 (Session 79) Bostick, M., Clontech Laboratories, Inc - 3 (3727) Boyar, F. Z., Quest Diagnostics - 3, 10; Genomic Vision - 10, 12 (3522) Boysen, C., CLC bio - 3 (3528) Bready, B., Nabsys - 1, 3, 4, 10, 13 (3529) Brown, M. P. S., Pacific Biosciences of California - 1, 3 (36) Brownstein, C. A., Boston Children s Hospital - 3 (1769) Busche, S., WaferGen - 12 (256) Carulli, J. P., Biogen Idec - 1, 2, 3, 12 (2561) Casanova, J.-L., Sanofi-Aventis - 5, 11; Merck - 5 (Session 80) Casuga, I., Ion Torrent/Life Technologies - 3 (3278) Chao, E. C., Ambry Genetics - 3 (2907) Cheng, S., Genzyme, a Sanofi Company - 1, 3, 10 (793) Chiabai, M. A., CNPq - 2; FAP-DF - 2 (1202) Cho, J. H., Pfizer - 5 (Session 80) Chowdry, A. B., 23andMe Inc. - 1, 3 (1620) Cipriani, V., Cambridge Enterprise on behalf of Cambridge University - 10; UCL business on behalf of University College London - 10 (2072) Conklin, B., ipierian Inc - 1 (Session 78) Conley, Y. P., University of Pittsburgh - 10 (1963) Costa, P., Agilent Technologies - 3 (922) Dai, X., Academy of Finland - 2; University of Helsinki - 3; Chancellor s Travel Grant - 14 (1265) DaRe, J., Transgenomic, Inc. - 1, 3 (688) Darnell, R. B., MSKCC (cloning Ri antigen) - 7 (Session 24) Davidson, C., Life Technologies - 3 (3684) De La Vega, F., Omicia, Inc. - 1, 3, 5 (1770) Delio, M., NIH Grant Support - 2 (1494) de Paor, A., Irish Research Council for the Humanities & Social Sciences - 2 (1812) Dermitzakis, E. T., DNAnexus - 11 (561) Dewey, F., Personalis - 5 (1601) Dickson, P., BioMarin - 2; Genzyme - 2 (785) Durand, E. Y., 23andMe, Inc. - 3 (179) Eberle, M. A., Illumina - 1, 3 (942) Ehm, M. G., GlaxoSmithKline - 1, 2 (649) Eicher, J. D., J.S. Genetics - 1, 4, 7, 10, 11 (1973) Elboudwarej, E., Novartis - 5; Genentech - 5; Sanofi-Aventis - 5; GlaxoSmithKilne - 5 (3454) Erez, A., Neogenis - 12 (165) Eriksson, N., 23andMe - 1, 3 (114); Boehringer Ingelheim - 12 (619) Fagerholm, R., On-Q-ity Inc (1171) Falk, M. J., United Mitochondrial Disease Foundation - 6 (2943) Feinerman, B., StemCellRegenMed - 3 (792) Francke, U., 23andMe, Inc. - 3 (1782) Friedlander, C., Fluidigm Incorp. - 1, 3 (3652) Gai, X., Agilent - 12 (3653) Gajecka, M., PerkinElmer, Inc., Spokane - 3 (934) Ganesh, S. K., Affymetrix - 11; BioGen Idec - 11 (1639) Geiss, G., Nanostring Technologies - 1, 3, 10 (1039) Germain, D. P., Amicus Therapeutics - 14 (772) Gilbert, D., VitaPath Genetics, Inc. - 1, 3 (75) Goizet, C., Genzyme - 2, 14; Shire - 14; Actelion - 14 (716) Goker-Alpan, O., Shire HGT - 3, 14, (768) Gonzalez, K. D., Ambry Genetics - 3 (3065) Green, R. C., 23andMe, Inc. - 9, 12; Pathway Genomics Corporation - 12 (1825) Guettouche, T., Caliper - 12; Ion Torrent/Life Technologies - 14 (3706) Gunter, C., Kailos Genetics - 5 (Session 81) Hageman, G. S., Sequenom Inc - 5, 11; Optherion Inc - 10, 15; shareholder (Session 7) Hagerman, P., US Patent Office - 10; Pacific Biosciences - 5, 13 (477) Hagerman, R., Novartis - 2; Roche - 2; Seaside Therapeutics - 2 (770) Hart, R. K., Locus Development, Inc. - 1, 3, 4, 10, 13 (3548) Hartshorne, T., Life Technologies - 3 (1146) Heckerman, D., Microsoft - 1, 3 (1379) Hegde, M., RainDance - 11; GenomeQuest - 11 (Session 3) High, K., BioMarin Pharmaceuticals - 5; Bluebird Bio, Inc. - 1, 5; Bristol-Myers Squibb - 5; Elsevier - 7; Genzyme, Inc. - 11; INSERM - 15 tool; Jackson Laboratories - 15; McGraw Hill - 7; Nordic Biotech - 5; Novo Nordisk - 14, ); PTC Therapeutics - 12; Sangamo Biosciences Life Sci (Session 23) Hirschhorn, J. N., Pfizer - 2 (Session 2, Session 81) Hoffman, J., Good Start Genetics - 2; Genzyme Therapeutics - 2 (1729) Hogg, G., Sequenom Center for Molecular Medicine - 3; Sequenom, Inc. - 3 (2973) Hoglund, B. N., Roche Molecular Systems - 3 (3713) Hollox, E. J., Pfizer - 2 (Session 22) Holstege, H., Life Technologies - 12 (494) Huang, A., Verinata Health, Inc. - 3 (3007) Ibrahim, J., Shire HGT - 3, 14 (769) Jacob, H., Primary Genetics - 4 (Session 3) Jansen Spayd, K., Kailos Genetics Inc. - 3 (1245) Javed, A., Gene Link, Inc - 3 (2631)

333 SPEAKER AND AUTHOR DISCLOSURES 331 Jensen, T. J., Sequenom, Inc. - 1, 3 (3014) Jeong, K., Agilent Technologies - 3 (3459) Jiang, R., Williams LifeSkills, Inc. - 1, 4 (2481) Johnson, F. K., Amicus Therapeutics - 1, 3 (732) Joun, D., Life Technologies - 3 (1246) Kaper, F., Illumina, Inc. - 3 (596) Karczewski, K. J., Personalis - 10 (562) Kennedy, C. J., Good Start Genetics - 1, 3, 10 (3640) Kitzman, J. O., Univ of Washington - 10 (74) Kong, A., decode Genetics - 3 (Session 75) Kormanik, K., Hyperion Therapeutics - 2; NIH - 2 (662) Kutalik, Z., GlaxoSmithKline - 12 (1387) Laberge, A. M., Fourth Dimension Spine LLC (NYC, USA) - 2 (1784) Langmore, J. P., Rubicon Genomics, Inc. - 1, 3, (3689) Laurance, M., Ingenuity - 3 (3560) Lebo, R., USPTO-application - 10 (2972) Le Clerc-Blain, J., Cree Board of Health and Social Services of James Bay - 14 (1733) Ledbetter, D. H., Roche Nimblegen - 5; Celula - 5 (Session 77) Letra, A., NIH - 2 (1936) Levy, B., Natera - 1, 5, 11 (73) Li, C., Life Technologies - 3 (3714) Li, H., The National Natural Science Foundation of China (798) Li, M., Life Technologies - 14 (399) Lih, C.-J., Life Technologies - 12 (1068) Lins, T. C. L., CNPq - 2; CAPES - 2; FAP-DF - 14 (3272) Liu, P., New England Biolabs - 3 (3715) Loomis, E. W., Pacific Biosciences of California, Inc - 9, 12 (2633) Lorget, F., BioMarin - 3, 10; INSERM U (763) Luke, M. M., Celera - 3, 4 (1603) Luo, M., Mount Sinai School of Medicine - 10 (1777) Lyon, E., Novartis - 5; Complete Genomics - 1, 5; Oregon Health Sciences - 14; National Society of Genetic Counselors - 14; University of Utah/ARUP Laboratories- 3; NICHD/NIH- 2; NHGRI/NIH- 2 (Session 3) Madhusoodanan, J., NextBio - 3 (1183) Mancini-DiNardo, D., Myriad Genetic Laboratories, Inc. - 1, 3 (1021) Manokhina, I., Partnership for Clean Competition - 2 (1760) Marques, F. A., CNPq - 2; CAPES - 2; FAP-DF - 14 (1880) Martin, C. L., Emory Genetics Laboratory - 3; NIH - 2; Simons Foundation - 2 (Session 17, Session 77) Martis, S., MRC Holland - 3 (652) Marziali, A., Boreal Genomics - 3, 4, 6, 10 (1264) Matsunami, N., Lineagen Inc. - 1, 2 (2397) McDonald, M. N., NIH - 2; GlaxoSmithKline funded ECLIPSE study - 2 (2249) McInerney, P., Illumina, Inc. - 1, 3; Epicentre, Inc. (an Illumina company) - 3 (3697) McKay, G. J., Nutrasight Consultancy Limited - 5 (1897) Mehta, G. R., Locus Development - 1, 3, 4, 10, 13 (3692) Menashe, I., MindSpec - 3 (446) Meredith, G., Life Technologies Corp - 1, 3 (3717) Mikula, M., Dept Molecular Genetics, Quest Diagnostics Nichols Inst, San - 1, 3 (2260) Miyagawa, T., Clinical Trial Operations Division, Site Support Institute C - 3 (2656) Morales, A., Informed Medical Decisions, Inc. - 5 (1681) Moreno, T., Pathway Genomics - 1, 3, 12 (Session 9) Morford, L., American Association of Women Dentists - 2; Southern Association of Orthodontists - 2 (1147) Morgan, T., Biomarin - 15; Clinical trial support for all but the first author (730) Mountain, J., 23andMe, Inc. - 1, 3 (Session 9) Mowery-Rushton, P. A., Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, - 3 (3101) Moya, P. R., F. Hoffmann-La Roche AG - 3 (261) Muller, R., Biomatrica - 3 (3720) Mullins, M. E., 23andMe, Inc. - 3 (2127) Munafo, D., New England Biolabs, Inc - 3 (512) Musci, T., Ariosa Diagnostics - 1, 3 (2978) Myres, N., AncestryDNA - 3 (3321) Neale, B. M., Illumina - 14 (2618) Nestrasil, I., Shire HGT - 2, 5 (714) Nguyen-Nielsen, M., Edimer Pharmaceuticals (MA, USA) - 2 (1565) Nicholls, K., GSK - 1, 3, 14; Amicus - 1, 3, 11, 14 (745) Niemi, A.-K., United Mitochondrial Disease Foundation - 2 (744) Nishida, A., JCR Pharmaceuticals - 3 (781) Normanno, N., Life Tecnologies - 12 (1060) Noto, K., Ancestry.com - 1, 3; AncestryDNA - 1 (3365) Nurmi, E. L., BioMarin - 5; Novartis - 5; Seaside Therapeutics - 2; Roche - 2 (639) Nussbaum, R. L., Complete Genomics - 1, 5 (Session 77) Oeth, P., Sequenom, Inc. - 1; Sequenom Center for Molecular Medicine - 3 (3016) Oliver, J. S., Nabsys - 1, 3, 4, 10, 13 (3656) Ong, F. S., National Institutes of Health - 2; Cedars- Sinai Medical Center - 2; Complete Genomics, Inc. - 15; Illumina, Inc. - 15; Stock Ownership (not stock options as in 1) (130) O Roak, B. J., Yale University - 10 (10) Ota, V. K., FAPESP - 2 (2533) Pallone, N. L., BioMarin - 2; Nutricia - 2; Vitaflo - 2; Mead Johnson - 2 (742) Pare, G., Boehringer Ingelheim Pharma Inc. - 2, 5, 8, 12 (617) Patsalis, P., NIPD Genetics Ltd (3017) Peltekova, V., OICR - 2; CIHR - 2; Ontario Research Funds - 2 (1093) Peng, Q., QIAGEN - 3 (1263) Peng, X., Life Technologies - 3 (3698) Perez-Jurado, L. A., qgenomics - 6, 11 (2711) Pericak-Vance, M. A., Artic Dx, Inc - 10 (Session 7) Peterschmitt, M. J., Genzyme - 3 (773) Phelan, M., NuGEN Technologies, Inc. - 1, 3 (3699) Porreca, G. J., Good Start Genetics - 1, 3, 10 (3680) Potocki, L., Baylor College of Medicine - 3 (Session 28) Pour-Jafari, H., Hamadan Univ Med Sci - 3 (860) Powers, N. R., JS Genetics, Inc - 4, 7, 10, 11, 13 (2010) Rabinowitz, M., Natera, Inc. - 3, 1, 10 (3018) Rath, M., Life Technologies Inc. - 3, 10 (532) Ray, F. A., KromaTiD Inc. - 1, 3, 4, 10 (948) Raz, T., GnuBio - 3 (3700) Rehm, H. L., Partners Healthcare - 3; Complete Genomics - 11; GenomeQuest - 11; Illumina - 12 (Session 77) SPEAKER/AUTHOR DISCLOSURES

334 332 SPEAKER AND AUTHOR DISCLOSURES Requa, M., BioNano Genomics, Inc - 3 (3649) Richard, G., GeneDx - 3 (2579) Richards, S., Life Technologies - 15; Receive discounted reagents and share data (Session 3) Rieder, M. J., Adaptive Biotechnologies - 1, 3 (530) Riley-Gillis, B., Hoffmann-La Roche - 3 (1252) Roberts, J. S., 23andMe - 12; Pathway Genomics - 12 (Session 9) Rodríguez-Santiago, B., Quantitative Medicine Laboratories - 3 (3208) Rogan, P. K., Cytognomix - 10 (3672) Romano-Silva, M., FAPEMIG: CBB-APQ ; CNPq / (2385) Romero, J. A., Life Technologies - 3 (3708) Roos, F., Agilent Technologies - 3 (3685) Rosenfeld, J. A., Signature Genomic Laboratories, PerkinElmer, Inc. - 3 (274) Russell, A., Omicia, Inc. - 1, 3, 4 (3602) Ruvolo, M., Agilent Technologies - 3 (975) Sá, M. J. N., Harvard Medical School Portugal Program - Junior Award - 2; Fundação para a Ciência e Tecnologia - 2 (3122) Saisanit, S., Roche Pharmaceuticals - 3 (3580) Schiffmann, R., Amicus Therapeutics - 2, 3, 5; Progrnosys, Biosciences, Inc - 3; Shire Human Genetic Therapies - 2, 5 (1684) Schmidt, J. L., NIHDS/NIH - 2; American Academy of Neurology - 2; BDF Newlife and National Institutes for Health Research - 2; USPTO - 3; patent pending (2452) Schwartz, S., Laboratory Corporation of America - 3 (949) Scott, C. R., Genzyme Corporation - 5 (727) Segal, M. M., SimulConsult - 3, 4, 10, 13 (3581) Sidow, A., DNAnexus - 1, 5 (397) Sikela, J. M., GATC Science LLC - 4, 7, 10, 13 (Session 22) Siklosi, K. R., Cystic Fibrosis Foundation - 2 (1731) Smaoui, N., GeneDx - 3 (1765) Snyder, M. W., Ariosa Diagnostics - 11; Stratos Genomics - 11; Good Start Genetics - 11; Adaptive TCR - 11 (94) Soler, C. V., CINAPCE Program, Campinas, Brazil - 12 (2233) Song, K., Ariosa Diagnostics - 1, 3 (3020) Spritz, R. A., Pfizer - 15; Spouse full-time employee of Pfizer, Inc. (Session 80) Srinivasan, A., Verinata Health, Inc. - 3 (3021) Stuenkel, A. J., Ambry Genetics - 1, 3 (1767) Superko, H. R., Celera Corporation, Alameda, CA., - 3; Medco Research Institute, LLC/an Express Scripts Company, Bethesda, MD - 1, 3; Ariosa Diagnostics Inc. - 3 (1714) Swaroop, A., University of Michigan - 7, 10 (Session 7) Syed, F., Illumina - 3 (3718) Talkowski, M. E., Signature Genomic Laboratories, PerkinElmer, Inc - 3 (68) Tang, M., Sequenom CMM - 3; Sequenom Inc - 1 (3023) Tanzi, R. E., Prana Biotechnology - 1, 5 (Session 10) Tavares, P., CGC Genetics - 13 (1778) Tavtigian, S. V., Myriad Genetics, Inc. - 7, 10 (1783) Taylor, J., Ariosa Diagnostics - 5 (2989) Taylor, J. C., LifeTechnologies - 12; Johnson & Johnson - 12; AstraZeneca - 12 (133) Thompson, J., Nabsys - 1, 3, 4, 10, 13 (3703) Thomson, N., CLC bio - 1, 3 (3662) Torchia, B., Signature Genomic Laboratories, PerkinElmer, Inc., Spokane,WA - 3 (902) Uhl, G., Duke University - 10 (2541) Umbarger, M. A., Good Start Genetics - 1, 3, 10 (3693) Utz, J., Genzyme - 2; Actelion, Shire - 5; Actelion, Shire, BioMarin, Genzyme - 8 (1855) Vaidya, D., Excet Inc - 5 (1710) Vaidyanathan, R., Epicentre (an illumina Company) - 3; Illumina - 3 (585) van der Valk, R. J. P., GlaxoSmithKline - 2 (2168) Vasenkova, I. A., Kailos Genetics Inc. - 3 (3687) Velasco, H., National University - 3 (703) Visitacion, M. R., Agilent Technologies, Inc - 3 (3709) Voorhoeve, E., Signature Genomics Laboratories - 3 (98) Wang, L.-S., Johnson & Johnson Pharm Res & Dev - 2 (342) Wang, X., Fluidigm Corp. - 1, 3 (3619) Watts, G. S., Ion Torrent - 9 (3712) Wernig, M., Fate Therapeutics - 7, 10; Stem Cells Inc (Session 78) Westbrook, J., Locus Development, Inc. - 1, 3 (1771) White, M., Hypogen - 1, 4, 11, 13 (245) Whitley, C. B., Shire Human Genetic Therapies - 2, 5, 11, 12, 14 (801) Wisotzkey, R., NextBio - 3 (1190) Woo, C., Life Technologies - 3 (3520) Woo, S., Korean Coral Resources Bank, Ministry of Land Transport Mari - 2; Korea Ocean Research and Development Institute - 2 (3673) Wu, S., 23andMe, Inc. - 1 (2149) Xie, P., Merck - 2; Eli Lilly and Co - 5; GlaxoSmithKline - 5; Alkermes - 5 (2621) Xue, Z., GlaxoSmithKline - 1, 2, 3 (651) Yamasaki, M., Central Research Laboratory, Hitachi Ltd, Tokyo, Japan - 12 (2496) Yim, P. W., Life Technologies - 3 (486) Zeng, W., Ambry Genetics - 3 (2698) Zhan, Y., Affymetrix - 1, 3 (1582) Zhang, Z., UMDF - 6 (534) Zhao, Z., MolecularMD - 5; GlaxoSmithKline - 11; Millennium Pharmaceuticals - 11; Illumina - 5 (136) Zhong, J., Roche - 3 (242) Ziegler, A., Affymetrix - 12 (1443) Zimran, A., Protalix Biotherapeutics - 1, 5, 11, 14; Shire Human Genetic Therapies - 8, 14 (788)

335 Genomes Consortium, 331, 3360T, 3380W 1000 Genomes Project, Genomes Project Consortium, 3636W 16p11.2 European Consortium Collaborators, 62 A Aaltonen, L., 997T Aanestad, M., 3614W Aartsma-Rus, A., 574W Ababon, M., 2216F Ababon, M. R., 2426F Abad, C., 2837T Abbasi, F., 1624T Abbott, D. E., 195 Abd El-Fattah El- Hashash, O., 214 AbdElHafez, H., 1922F Abdelhak, S., 105 Abdellaoui, A., 459F Abdel-Magid, N., 2785W, 2892F, 2904F Abdelmalek, M., 531F Abdelmoula Bouayed, N., 539F Abdel-Rahman, M. H., 1197W Abdenur, J., 2895F Abdollahi, B. S., 2150F Abdrabou, W., 2154W Abd Ruboh, A., 930T Abdulkareem, N., 1584T* Abdul-Rahman, O. A., 124, 3076F* Abdul Razack, A. H., 1083W AbdusSamad, M., 1300F Abe, T., 396, 2051F Abe, Y., 1317T Abecasis, G., Session 7, 88, 108, 113, 176, 177, 186, 476W, 547F, 641T, 1370W, 1391W, 1429F, 1451W, 1513F, 1516F, 1521T, 1525F, 1533T, 1558F, 1568W, 1923W, 2001W, 2090F, 2102F, 2135F, 2198F, 2308T, 3466T, 3664W Abecasis, G. R., 46, 117, 154, 157, 170, 276, 1448W, 1545T, 1952F, 2183F, 2329T, 2339F SPEAKER AND AUTHOR INDEX This index includes an alphabetical listing of all speakers, presenting authors, co-authors and study groups/consortia for the 2012 ASHG meeting. Session numbers follow invited speaker names; abstract numbers follow poster/platform author names. Presenting author names are noted with an asterisk. Abel, L., 365, 2003F, 3599F Abell Aleff, P. C., 1695T Aberg, K. A., 3442T*, 3452T Abhyankar, A., 127, 202, 3599F Abifadel, M., 1607T Abi-Rached, L., 3710W Ables, A., 2989T Abnet, C. C., 1010F, 1076F Abney, M., Session 75, 278, 1395T, 1488T Abolhasani, M., 2013W Abou Jamra, R., 2557T* Abouzehry, A., 3526W Abraham, A., 931W Abramowicz, M., 105 Abrams, A., 794W Abrams, D. J., 2546F Abrams, G., 1965W Abramson, K., 1444F Abramzon, Y., 2611T, 2648F Abrantes, P., 1977W Abrantes, P. C. S., 2085W* Abruzzo, M. A., 2752W Absher, D., 434W, 3443T* Absher, D. M., 2223W, 3318T Abu-Amero, K., 2997T Abu-Amero, S., 303, 3508T Abu Rayyan, A., 2919F Abu-staiteh, A., 3155W Abyzov, A., 334, 3251W Accardi, J. P., 2938W ACE Genetics Consortium, 2479T, 2658W ACE Network Consortium, 553F Acevedo, S., 3390T Aceves-Aceves, M. A., 3187W, 3188F Achatz, M. I. W., 1102T, 1217F* Achermann, J. C., 361 Achkar, J. P., 1466W Achkar, W. A. L., 1490W Ackerman, H. H., 2561F Ackerman, M. J., 2885T, 2906T Ackerman, S. L., Session 24 Acosta, O., 2296T Acosta Guio, J., 3041W* Acosta-Herrera, M., 2296T Acosta Lebrigio, R. F., 2615F Acosta-Perez, E., 3449T Acquaye, T. K., 626T Acuna, B., 1289W, 1301W, 1414F, 1455T Adachi, H., 2129F Adachi, K., 2440T Adachi, M., 1795W, 2891T Adachi, S., 2133W Adair, C. D., 3020T Adala, L., 2744T Adam, M. P., 1753W* Adam, S., 1840F*, 1846W Adamczyk, A., 2566T Adami, H.-O., 991T Adams, C., 953W, 3717F Adams, D., 359*, 2870T Adams, D. J., 105 Adams, D. R., 2938W, 3543F Adams, E., 784W Adams, J., 1706T* Adams, L., 1834F Adams, M. C., 231* Adams, S. A., 832F* Adamski, J., 2226W, 2548T Adamusiak, T., 3610W Adane, S., 1268F Adayev, T., 2449T Addai, J., 2979T Addess, K., 3582W Addis, L., 1531F, 2580W* Addison, S. M. F., 378 Adebamowo, C., 1003T, 1848W Adebowale, A., 2063F Adela Mansilla, M., 2325W Adès, L. C., 3167W Adey, A., 3721F Adey, A. C., 1014W* Adeyemo, A., 241, 1515T, 1886F, 1959W, 3533F ADGC, ADNI, GERAD, 340 ADGC Consortium, 343 Adhikari, K., 3327T* Adhikari, N., 1665T Adir, V., 3202F* Adkins, A. E., 2504F Admiraal, R. J. C., 58 Adoue, V., 569F, 3439T Adrianto, I., 529F, 1895F, 2084F, 2188T Afanador, Y. M., 3315T* Afanasjev, V., 1140W Afenjar, A., 127, 131 Afi Rawlings-Goss, R., 518W* African American BMI Consortium, 2131T, 3299W Afzal, V., 4, 407 Agarwal, A., 2028W, 2318F Agarwal, P., 649T Agarwal, S., 2446T, 2700F* Agarwala, V., 2209T* Agate, S., 2014T Agatep, B. C., 1714T AGEN-T2D, DIAGRAM, MA-T2D and SA-T2D Consortia, 49 Aggarwal, A., 1235F Aggarwal, R., 3508T Aggarwal, S., 555F Aggarwal, V., 73, 957W, 977W* Aggen, S., 3512T Agioutantis, Z., 2902W Aglan, M., 2937F Agne, E., 3729F Agolini, E., 2760F* Agosti, V., 1985F Agostini, J., 1732W, 2775F AGP Consortium, 2492F Agrap, B., 1172F Agrawal, A., 2582F, 2598W Agrawal, P., 2811F* Agrawal, P. B., 3219W Agrawal, S., 2353T, 2992T Aguena, M., 814F, 852F Aguglia, U., 2780T Aguiar, M. J. B., 2434T, 3107W, 3110F Aguiar, V. R. C., 182, 1573F* Aguiar-Garcia, P., 650T Aguilar-Chávez, E. A., 2363F Aguilar-Pimentel, J. A., 2922F Aguilar-Salinas, C. A., 2256W Aguilera, M., 728T Aguilera, P., 1053W Aguinaldo, K., 3698W Aguirre Hernandez, J., 1105T* Agusti, A., 2249F Aguzzi, R., 773W Ahaghotu, C., 1009T Ahearn, J., 458W Ahituv, N., 246, 1995W Ahluwalia, T. S., 2317T, 2347T* Ahmadi, A., 3201W Ahmadi, K., 44, 583F Ahmadzadeh, A., 1118F Ahmed, A., 714T, 715F* Ahmed, A. F., 2047T Ahmed, I., 3078F Ahmed, M., 3078F Ahmed, R., 931W Ahmed, S., 209 Ahmed, Z. M., 2724F, 2959W, 3194F, 3212F SPEAKER AND AUTHOR INDEX *Presenting Author

336 334 SPEAKER AND AUTHOR INDEX Ahmudavalli, S. M., 300 Ahn, C., 3223W Ahn, H., 3461T Ahn, J., 1243T Ahn, J. W., 906T* Ahn, K., 1338T, 2584T* Ahn, Y., 1657T Aho, H., 1139F Ahonen, S. J., 2913F* Ahonen-Bishopp, A., 3610W Ahsan, B., 52, 2409W Ahsan, H., 2025W Ahting, U., 699F, 782W Aiello, A., 435F Ainehsazan, E., 2801T Ainsworth, P. J., 1138T*, 3672W Airaud, F., 1204T Aird, D., 322 Aissat, A., 572W Aitchison, A., 3440T Aitman, T. J., 1618T, 2005T Aittomäki, K., 897W, 1006T, 1117T, 1171T, 1265F Ait Yahya Graison, E., 3674W* Aiyar, L., 320* Ajay, S., 2293T Ajbro, K. D., 805F* Ajit Bolar, N., 80 Akalin, A., 3464T Akarsu, N., 219 Akay, H., 2772F Akbari, M., 2013W Akbari, M. T., 2290T* Akbari, S., 2135F Aken, B. L., 506W Aker, L., 2139W Akerlund, M., 190 Akerstedt, A. M., 168 Akey, J., 283 Akey, J. M., 10 Akhabir, L., 1465F Akin, H., 965W, 1106F* Akinrinade, O., 992F Akinsanya, K., 1605T Akiyama, J., 407 Akiyama, J. A., 254 Akler, G., 3395W Akmen, H. O., 232 Akoume, M.-Y., 2234F Akoury, E., 2842W, 2981T* Aksakal, O., 594W Aktas, S., 1025F Akula, N., 260*, 2622W Akushevich, I., 2027F Akutsu, K., 1697T Akylbekova, E., 350 Akylbekova, M., 2210F Akyol, M., 1136F Al Ageeli, E., 1205F Al-Ahmari, A., 3149W* Alaimo, J. T., 640T* Ala-Koko, L., 1892F Ala-Korpela, M., 656T, 1623T Alakulppi, N., 2023T Alakus, H., 395 Al-Alem, U., 2281T Al-Ali, F. M. S., 2731W Ala-Mello, S., 252 Al-Amri, F., 2713W Al-Aqeel, A., 723F* Al-Aqeel, S., 1266W* Alarcón-Riquelme, M. E., 1979F, 2046W, 3382F Alassiri, H., 3155W Alasti, F., 419F* Alavi-Naini, SM., 843F Al-Awwami, M., 3149W Al-azzam, S., 856T Albanes, D., 1012T, 1091F, 1154F Albers, C. A., 383* Albers, J. J., 1605T Albertyn, Z., 242 Albino, E., 1987T* Albracht, D., 465F Albrecht, E., 2086T*, 2175W Albrechtsen, A., 2311T, 2317T, 2347T, 3289F, 3312T Albright, F., 1328W Albu, C. C., 3005T*, 3009T, 3067W Albu, D. F., 3005T, 3009T*, 3067W Albuisson, J., 3233W Alby, C., 77, 403, 3240F Alcaïs, A., 1374T, 2003F Alcalay, R., 746T Al-Chalabi, A., 348 Alcivar, 872T Alda, M., 2338T, 2342F Al-Dhekri, H., 3155W Al-Dosari, S., 2713W Aldrich, J., 1240T Alechine, E., 3364F, 3402T Aleman, G., 526W Alembik, Y., 3073W Alenius, G. M., 2160W Alessandri, J.-L., 3172F Alessandri, M., 1786W, 1787W Alexander, G. J., 153 Alexander, I. E., 166 Aleyasin, A., 2980T Al-Fadhly, F., 2676F Al-Fawaz, I., 3149W Alfieri, P., 3087W Alfredsson, L., 1455T Al-Gazali, L., 8, 160, 2740W, 2937F Al-Ghonaium, A., 3155W Alha, P., 1835W Alhaddad, H., 3252T Al-Hafid, N., 166 Al-Hait, S., 2937F Al-Hamed, M. H., 2676F* Al-Hazza, S., 2734W Al-Hertani, W., 675F*, 720T Ali, B. R., 160 Ali, G., 2631W Ali, M., 2403W, 2959W Ali, R., 2899W Ali, S., 2821W Aliefendioglu, D., 702T Alikashani, A., 1678T, 1982F, 2319W Alizadeh, B. Z., 111, 2073W Alizadeh, S. A., 1096T Al-Jasmi, F., 2937F Alkan, C., 14 Al-Kateb, H., 912T, 1028F* Alkayal, F., 3369T Alkelai, A., 53, 2875W* Alkhateeb, A., 1881W* Alkrinawi, S., 2738T Allache, R., 1910F* All-Allawi, N., 2937F Allam, R., 2734W Allamand, V., 2436W Allanson, J., 124, 150, 1852F Allayee, H., 110 Allegra, M., 218 Allegri, L., 845F Allen, A. S., 1349W Allen, C., 1823W* Allen, E., 1971W* Allen, E. G., 253, 3042F Allen, J., 2465F Allen, M., 1316W, 1377T, 1671T, 1713T, 3719F Allen, S., 36 Allen, S. J., 406, 2850F Allik, A., 1832F Allingham, R. R., 386, 2154W, 2240F, 2263T Allingham-Hawkins, D., 1820F* Allione, A., 1712T Allon-Shalev, S., 1165T Al-Maawali, A., 1704T Almada, B. V. P., 814F, 852F Al-Mahdawi, S., 761W Al-Marri, A., 2933T, 3399W Almarri, M. A., 153 Almasy, A., 1651T Almasy, L., 1280W, 1406W, 2061W, 2308T, 2309F, 2503T, 2582F, 2589W, 2651F Almasy, L. A., 1923W Almeida, B. S., 994T, 1946F Almeida, J., 2417F, 2502W Almeida, M., 176, 1280W, 1513F, 2308T, 2339F Almeida, M. A., 1923W*, 2309F Almeida, R., 523F Almeida, T. F., 2232W*, 3152F, 3184F, 3295F Almeida-King, J., 497F Almeida-Souza, L., 201, 2948T Almli, L. M., 1422T, 2420F*, 3480T Almoguera Castillo, B., 1659T Al-Mostafa, A., 2734W Al-Mousa, H., 3155W Al-Muhsen, S., 3155W Almureikhi, M., 2899W Almusa, H., 327, 2888T Al-Mutawa, M., 2713W Al-Olama, A., 1011W Alonso, A., 1403W, 1585T Alonso, I., 1964F, 2736F, 2818W Alonso, N., 2687T Alonso, P., 2593T Alonso Barragan, S. A., 3187W Al-Owain, M., 2734W Al-Saad, S., 8 Al-Saffar, M., 8 Al-Sannaa, N., 219 Al-Sarraj, S., 3476T Al-Sarraj, Y., 2899W, 3140F, 3526W* Al-Saud, B., 3149W Al-Saud, B. K., 3155W Al-Shambri, S., 3149W Alsmadi, O., 3149W, 3155W, 3369T Al-Sum, Z., 3155W Altaescu, G., 788W Altamirano, M., 1022F Altamuro, D., 966T Altansukh, T., 3248F Altarescu, G., 746T, 2991T*, 2993T, 3002T Altemose, N., 284 Altenmüller, E., 200 Alter, B. P., 1196F Altincik, A., 2758W Altinors, N., 1013F Altiokka Uzun, G., 2396F, 2412W Altman, R. B., 633T, 635T, 646T Altmann, A., 2483F Altmüller, J., 2759T, 2861T, 2869W, 2930T, 2944W Altshuler, D., 176, 208, 249, 280, 1677T, 2209T Altug, T., 2429F Al-Turki, S., 101, 216, 364 Altuzara, C., 2770W Altuzarra, C., 329 Alul, F., 1882T* Alvarado, C., 398 Alvarado, D. A., 220 Alvarado, D. M., 2860W* Alvarado, M., 1741W, 1866F Alvarez, M., 3449T Alvarez, M. C., 1187F Alvarez, M. I., 2940F, 3217W Alvarez, V., 2930T Alvarez-Mora, M.-I., 2624F Alvarez-Serrano, A., 3363T Alver, M., 2144F Alves, S., 3122F Alves-Ferreira, M., 2818W* Alvim-Soares, A., 2385W Alvizi, L., 2673F*, 2746W Al-Yahyaee, S. A., 160 Alzheimer s Disease Genetics Consortium, 342, 344, 1476T, 1571W, 2498F Alzheimer s Disease Neuroimaging Initiative, 2511W, 2531F Alzoubi, K., 855W, 856T* Amagai, M., 2911W Amara, A., 1751W, 2744T Amaral, M. D., 1731W Amarillo, I. E., 950T Amata, S., 3114F Amato, R. S., 432W *Presenting Author

337 SPEAKER AND AUTHOR INDEX 335 Ambalavanan, A., 2338T, 2558F* Ambannavar, R., 1198T Ambite, J. L., 1439W, 3558W, 3678W Ambrosone, C. B., 2202W Ambs, S., 1003T, 1097F Ambulos, N., 602T Amelio, A. L., 1162T* Amell, A. M., 55, 2224T Amemiya, A. R., 1753W Amer, W., 2866W Ames, J., 3587F Ameur, A., 3728W Ameye, G., 2002T Amiel, J., 126, 843F, 915W, 2770W, 3157W, 3172F* Amin, N., 109, 459F Amin Al Olama, A., 205, 1148F* Amini, P., 1083W Amiran, R., 858T Amiri, H., 689F Amirisetty, S., 578W Amjad, R., 1956W Ammarinthnukrowh, P., 2006F Ammous, Z., 1633T*, 3175W Amor, D. J., 217 Amorim, A., 2982T Amos, C., 1291F, 1399F Amos, C. I., 593F, 1298W, 1454W Amouri, R., 2537F Ampy, F., 1821W Amr, S. S., 1754W* Amron, D., 2790F Amstadter, A., 3512T Amundadottir, L., 1088F, 1199F Amyere, M., 1015T* Amyot, M., 1951T Anagnostopoulos, A., 2675T Anand, V., 3382F Ananiev, V., 3582W Ananina, G., 426W*, 2718F Anastosova, V., 1811W Anaya, J. M., 307, 1979F, 2046W Anaya, J.-M., 529F, 2084F, 2188T Anayane-Yeboa, K., 977W Anchan, R., 78, 82 Ancoli-Israel, S., 2375F Anctil, J. L., 1951T Andelfinger, G., 31 Anderlid, B. M., 80 Andermann, E., 2790F Andersen, A., 3706W Andersen, C. L., 401 Andersen, E. F., 886T* Andersen, H. S., 737F Andersen, M., 1237T*, 1244F, 3714W Andersen, P. S., 1323T* Andersen, T. A., 805F Anderson, A., 1724W Anderson, C., 1269W, 1518T Anderson, C. A., 153, 354, 1967F, 2101T, 2133W, 2163W Anderson, G., 2755W Anderson, J., 2529W, 2681T Anderson, J. M., 2663T Anderson, L., 2465F Anderson, M., 7 Anderson, M. W., 1454W Anderson, N., 433F, 835F Anderson, P., 3664W Anderson, R., 1052F, 1856F Anderson, R. L., 3398T Anderson, S., 912T, 1242W Anderson, T., 2584T Andersson, A., 31 Andersson, E., 2311T Andersson, H. C., 666T*, 907W Andersson, T., 1242W Andersson Assarsson, J., 1271F Andersson-Assarsson, J. C., 427F* Ando, J., 3513T Ando, M., 2559W* Ando, Y., 2550W, 2619W Andoni, U., 2436W Andrade, E. S., 3280F* Andrade, J. G., 478W Andrade, R. V., 3375T Andrade-Lima, L. C., 814F Andreasen, D., 1194W Andreasen, N., 2493W Andreasen, N. C., 422W Andreassen, K. E., 991T Andreoli, V., 2597F Andres, A., 3306T Andresen, B. S., 737F* Andresson, T., 1088F, 2833W Andrew, A., 3465T Andrew-Faucett, W., 299 Andrews, A. M., 261 Andrews, A. S., 1453F Andrews, C., 2928F Andrews, H., 442W Andrews, L., Session 20 Andrews, P., 2587T Andrieu-Abadie, N., 54 Andrieux, J., 299, 889W, 911W, 925W, 3109W, 3172F Andrulis, I. L., 1213T Anedda, F., 2001W* Ang, K., 309 Ang, K. C., 3267T* Ang, W., 2097W, 2164T Angeles, M., 928T Angelini, C., 1732W, 1776W, 2909T Angerhofer, N., 3321T, 3340F*, 3365W Angius, A., 113, 157, 177, 186, 547F, 823F, 1451W, 1516F, 2001W, 2916F Angle, B., 66 Angle, J., 3350W Angot, E., 32 Angrist, M., 3 Angstadt, A. Y., 1107W* Anguiano, A., 876T, 3522T Anikster, Y., 53, 199, 660T, 731F, 2455T Ankeleshwaria, C., 700T Ankeman, K., 2406W Ankener, W., 544W Ankleshwaria, C., 3400T* Ankleshwaria, C. M., 2803W Annagür, A., 219 Annerén, G., 3245W Annesi, G., 2763F, 2766F, 2774T*, 2780T Annesi-Maesano, I., 1941W Annilo, T., 1163F*, 3079W Annunziata, F., 735F Ansari, M., 3072F Antalfy, B., 234 Antao, N. N., 614T Anthony, D., 216, 809F Anthony, S. P., 1186T Antignac, C., 322, 324 Antoine-Poirel, H., 2002T Antonacci, F., 3296W Antonarakis, S. E., 67, 84, 85, 550W, 556W, 561F, 567F, 582W, 807F, 2877F, 2937F, 3263W, 3431T Antonellis, A., 2470T* Antonialli, G., 3131W Antonialli, G. P. M., 2484W* Antonini, G., 1776W Antonini, S., 874T Antoniou, A., 208, 1109F Antoniou, A. C., 207*, 210, 1492F Anvar, S. Y., 542W Anyane-Yeboa, K., 1600T, 3046F Anyanwu, N., 2082W Ao, A., 2981T Aoki, K., 724T Aoki, M., 396 Aouizerat, B. E., 1965W Aparecida da Silva, D., 3364F, 3402T Aparicio, J. M., 926T*, 1018T, 3039W, 3061W, 3063W, 3064F Aparicio-Rodriguez, J. M., 3062F APCDR Investigators, 3412T Apel, M., 2160W Apolo, A. B., 1092W Apone, L., 512W, 3517T* Apone, L. M., 3702W, 3715F Aponte, J., 1686T Appel, I. M., 980T Appelbaum, E., 1210T, 2325W Appel-Cresswell, S., 346, 3135W Appelt, U., 3641F, 3662W Appenzeller, O., 3307F April, C., 1193F, 1238F Aquino, M., 3033T Aquino, M. A., 2871F Aquino-Michaels, K., 646T Arabzadeh, M., 1056W Aradhya, S., 103, 332*, 1765W, 2579F Aragam, J., 1677T Aragon-Martin, J. A., 1584T, 1675T Arahata, H., 2400W Arai, Y., 396 Araki, T., 2435F Aral, B., 2716W, 2729T, 2770W Aran, A., 2447F Aranha, I., 927W* Arashiro, P., 1776W Arasimavičius, J., 653T Araujo, A. S., 426W, 2718F Araújo, B. P. B., 479F Araújo, I. I., 3318T Araujo, M. I., 2043W Arayssi, T., 1490W Araz, M., 1402F, 1935W, 1938W Arbeev, K., 2027F, 2194T Arbeeva, L., 2194T Arbez-Gindre, F., 3199W Arboleda, V., 361* Arcanjo, A. C., 3324T, 3375T Archaic Genome Analysis Consortium, 3274F Archana, G., 878T Archibald, A. D., 143 Arciniegas, N., 659F* arcogen Consortium, 2292W Arden, N., 2189F Arden, N. K., 2292W Ardissone, F., 1153T Ardlie, K., 368* Ardon, O., 660T*, 689F Arenas-Aranda, D. J., 1168T Arenas-Sordo, M., 3125W* Arends, M. J., 105 Arens, Y., 1439W*, 3678W Arepalli, S., 564W Aretz, S., 1005W* Arezi, B., 3709F Argente, J., 2711T, 3208F Argiro, L., 1949F Argiropoulos, B., 910T, 3095W Argos, M., 2025W Ariani, F., 2604W* Arias, L., 3074F Arias Vásquez, A., 1498F* Arimura, K., 2601W Arimura, Y., 2174F Arinami, T., 2380T Ariyoshi, K., 1998W, 1999T Arjona, D., 330 Arking, D. E., 1403W, 1579F, 1585T Arlt, M. F., 339*, 2879T Armas, R., 2495F Armasu, S. M., 1375F, 1497T, 3451T Armbrecht, A. M., 2072F Armengol, L., 3208F Armory, P., 1082F Armour, C., 719F SPEAKER AND AUTHOR INDEX *Presenting Author

338 336 SPEAKER AND AUTHOR INDEX Armstrong, D. G., 3712W Armstrong, G., 1447F Armstrong, L., 1447F Armstrong, M. C., 2851W Arnaout, R., 3155W Arnaud, K., 2674W Arndt, K., 3090F Arndt, S., 2753T, 3203W Arne-Bes, M.-C., 2945T Arnell, C., 1021T Arnett, D., 3443T Arnhold, U. P., 2706F Arning, M., 630T Ärnlöv, J., 1624T Arno, G., 1584T, 1675T* Arnold, A., 1275W Arnold, P. D., 2499W*, 3447T Arobba, B., 1856F Aroda, V., 1925F Aronica, E., 2909T Aronow, B., 2136W Arp, P., 3608W ARRA Autism Sequencing Collaboration, 2613W ARRA Autism Sequencing Consortium, 11, 268, 1520W, 1523W, 3597F ARRA Autism Sequencing Consortium and Autism Sequencing Consortium, 2577W Arroyo-Pardo, E., 3402T Arseneau, J., 2842W Arseneault, R., 1951T Arslan, A. O., 2956W Arslan, E., 2719W Artigalás, O., 1851F Artigiani, R., 3421T, 3503T Artiguenave, F. M., 2394W, 2876T, 3578W Artinger, K. B., 819F Arts, H., 324 Arts, H. H., 216 Artto, V., 2348F Arun Kumar, G., 3377W Arveiler, B., 473F*, 841F Asabere, A., 551F Asahina, N., 2822T Asan, A., 3300T, 3311W Aschard, H., 318* Aschendorff, A., 2753T, 3203W Aschim, E. L., 991T Asgari, N., 2290T Ash, C., 1093T Ashe, T. D., 565F Ashfield, A., 1082F Ashford, L., 730T Ashkenazi Genome Consortium, 17 Ashley, E., 1601T Ashley-Koch, A., 3, 386, 531F, 1919F, 2135F Ashley-Koch, A. E., 2340W, 2946F Ashton-Prolla, P., 1217F Ashutosh, A., 971W Asico, L., 245 Asiimwe, E., 1919F Asimit, J., 3412T Aslam, A., 3700W Aslam, M., 2086T Asmal, L., 644T Asmann, Y. W., 986F, 1214F Aspers, R., 2696T Aspesi, A., 1153T Asselbergs, F. W., 609T, 1606T, 1659T Asselin, G., 2402F Assimes, T., 1608T Assimes, T. L., 115, 434W, 1595T, 1624T Assumpção, P. P., 1008W, 1132T, 3421T, 3503T Astashyn, A., 3732W Astbury, C., 456W, 912T Astley, S., 3076F Aston, K. I., 2982T Astuti, D., 2767W, 2787F Asunis, I., 2001W Aswani, V. H., 2683W Ataman, B., 2613W Atanur, S., 1618T Atefi, M., 136 Atehortua-Khalsa, K., 3717F Ather, S., 667F Athing, U., 2917W Atia, J., 1811W* Atik, T., 965W, 3222F Atique, R., 2687T* Atkin, J., 456W Atkin, J. F., 124 Atkinson, A. L., 143 Atkinson, E., 2362T Atlan, D., 3610W Atsuta, N., 3221W Attanasio, C., 4* Attarian, S., 328 Attia, J., 2133W Attie, T., 3246F Attie-Bitach, T., 2727F, 3240F Attié-Bitach, T., 77, 403 Attri, S., 802W Attwood, A. H., 978T Atwal, G., 3316F Atwood, L. D., 2030F Atzeni, R., 157, 177, 1516F Atzmon, G., 17, 169, 269, 1319W, 1923W, 2308T, 2339F, 3336T, 3345T, 3395W Au, E., 1756W Au, P.-Y. B., 1052F* Aubart, M., 56* Aubry, M., 2893W Audi Delaney, L., 131 Audrezet, M.-P., 1728W Auer, M., 1115F Auer, P. L., 301, 1408F, 1437T, 2336F, 2337W Auerbach, A. D., 1069T* Auer-Grumbach, M., 201, 2948T Augello, B., 775W, 3087W, 3256F Augustin, J., 345 Augustine, N. H., 495F Augusto, D. G., 1405F Aulchenko, Y. S., 2106W Aung, T., 2094W Auro, K., 2059T* Ausavarat, S., 2749W Austermann, C., 3310F Austin, C., 3490T Austin, H., 611T Austin, M., 3649F Autism Genome Project, 2261F Autism Sequencing Consortium, 2560T Auton, A., 285, 1494T Auvin, S., 2536T Au-Young, J., 1195T* Avadhani, N., 2943F Avallone, B., 808F Avansini, S. H., 514W* Avard, D., 1823W Avbelj, M., 2710W Avdjieva-Tzavella, D. M., 923W Avery, C. L., 1434T Avihingsanon, Y., 2006F Avila, M. P., 3130F Avila, S., 976T Avila Arreguin, E., 773W Aviram, A., 270, 2603F Aviram, M., 2738T Aviv, A., 1653T Avraham, K. B., 2914W*, 2919F Avramopoulos, D., 504W, 2387F, 2461T, 2486F, 2573F Avrich, A. A., 1295W Avril, M. F., 1158W Avsar, T., 2429F, 2450F* Aw, J., 1872F, 1873F Awad, D., 1600T Awadalla, P., 31, 2266T, 3260W, 3268F, 3341W* Awano, H., 729F, 781W Awasthi, S., 1287T Axelsen, M., 2493W Axelsson, T., 617T, 619T Axford, M. M., 2824W* Aya-Bonilla, C. A., 1042T* Ayala Ramírez, P., 2990T* Ayas, M., 3149W Aydinok, Y., 2719W Ayele, F., 3412T Aygun, B., 2331W Aykut, A., 3206F Ayme, S., 2703F Aypar, U., 887W* Ayres, C., 1038W Ayub, M., 2398T, 2590T Ayub, Q., 3322F Ayyub, H., 418W Azad, A. K., 1108T* Azadegan, F., 1143W, 1596T, 1739W Azaiez, H., 2867T* Azamian, M. S., 1646T Azaro, M., 2381F Azaro, M. A., 2523W Azen, C., 237 Aziz, A., 3007T Aziz, N., Session 3 Aziza, J., 3129W Azzedine, H., 2866W* B Baaj, S., 865W* Baala, L., 3246F* Baas, A. F., 87 Baas, F., 197, 200, 1616T, 2909T Babatz, T. D., 504W* Babin, P., 841F Babiuk, R., 2675T Babovic-Vuksanovic, D., 887W Babron, M.-C., 1496W*, 3408T Babron, M. C., 3328F Babrzadeh, F., 398 Babu, D., 2827W* Babul-Hirji, R., 1872F, 1873F Babyak, M. A., 2481W Bacanu, S. A., 2500T Baccarelli, A., 3469T Bacchelli, C., 1748W Bach, R. G., 2535W Bachmann, C. G., 2568W Bachmeyer, R. C., 1245W, 3527F*, 3687F Bacino, C., 432W, 898T, 952T, 3209W Backes, C., 515F Bäcklin, C., 3427T Backus, K., 1116W Backx, A. P., 2909T Bacon, C., 1612T Badarinarayan, N., 1943F, 2303F Bademci, G., 347, 2603F, 3706W Badenas, C., 1053W* Badens, C., 2536T, 3236F Bader, J. S., 1403W, 1579F Bader, S., 242 Badfar, S., 1596T Badii, R., 2933T, 3399W Badilla-Porras, R., 3183W* Badner, J., 2590T Badner, J. A., 1957T Bae, J., 3444T*, 3462T Bae, J. S., 3607F Bae, S., 3462T Bae, S. C., 1979F, 2046W Bae, Y., 411, 2864T Baek, J., 2273F, 2427W* Baena, N., 2940F Baere, E., 298 Baert, A., 539F Baert-Desurmont, S., 1222T Baeta, M., 3364F, 3402T Baets, J., 201*, 2948T Baez-Cabrera, L., 1130F Baffini, S., 3114F* Bafna, V., 1043F, 1471F, 3307F Bagalà, A., 2766F, 2774T *Presenting Author

339 SPEAKER AND AUTHOR INDEX 337 Bagarotti, A., 2775F Bagdonaite, l., 920T Bagga, A., 2844F Baggott, C., 1965W Baghdadli, A., 2386T Baghel, K., 764W, 1883F* Bagheri, N., 1143W*, 1596T, 1739W Bagnall, R. D., 1664T* Bagot, M., 29, 1062W Bagshaw, A., 3440T Bahce, M., 1136F Baheti, S., 1695T Bahi-Buisson, N., 104 Bahlo, M., 2741T, 3228F Bai, R., 330*, 2839W Bai, Y., 1945T Bai, Y.-M., 610T Baier, H., 810F Baier, L., 1300F, 1917W, 2038T Baier, L. J., 2018F, 2124W Baig, S. M., 2920W Bailes, A., 456W Bailes, A. K., 912T Bailey, A., 3038F Bailey, J. M., 1957T Bailey, L., 789W Bailey, L. B., 1304W Bailey, M., 340 Bailey, M. H., 1149W* Bailey, S. M., 948T Bailey-Wilson, J. E., 1001F, 1081T, 1214F, 1302T, 1363F, 1454W, 1512T, 3591F Baillie, J. K., 1507F Bailliet, G., 3362W Bain, S. M., 978T* Bainbridge, M., 314, 1742W, 2802F, 2934F Bainbridge, M. N., 1735W, 1757W, 2883F, 3576W Baird, L., 2397W Baird, P., 1072T, 1911W Bajaj, K., 1793W, 3022T Bajanowski, T., 86 Bak, B., 2701W Bak, M., 805F Bakay, M., 1992W* Baker, A., 1194W Baker, C., 12, 14 Baker, E., 2087F Baker, J., 1198T, 2033F Baker, L., 2845W*, 2846T Baker, M., 3287W Baker, M. C., 2639F Baker, P., 1671T Baker, T., 642T Bakke, P., 2057F, 2249F Bakker, B., 55 Bakker, S. C., 2526W Bakour, R., 1268F Bakthavachalam, V., 2039F, 2049W Bala, N., 3516T Balanovska, E., 3377W Balanovsky, O., 3377W Balasa, A., 2802F, 3495T Balasenthil, S., 1095W Balasubramanian, S., 41, 280 Balat, A., 1402F, 1935W, 1938W Balci, T., 1164W*, 1178F Baldassano, R., 319, 2229W, 2252F Baldassano, R. N., 1997F Baldi, M., 71 Balding, D., 1394W, 1807W* Balding, D. J., 684T, 3322F Baldo, G., 691F* Baldwin, C. T., 343, 2563T Baldwin, E. E., 886T, 1752W Baldwin, S., 3671F Bale, S., 330, 766W, 1765W Bale, S. J., 222 Bali, D., 2293T Balkhy, S., 8 Ball, C., 3321T Ball, C. A., 3365W Ball, T., 3276T Ballabio, A., 735F Ballantyne, C., 1688T Ballantyne, C. M., 272 Ballard, D. H., 306 Ballew, B., 1196F Ballif, B. C., 66, 884T*, 3101W Ballinger, T., 466W Balloi, M., 3664W Balmakund, T. M., 1735W Balmaña, N., 2578T Balog, J., 55 Balogh, M., 2177F Balouch, I. A., 2398T Baluyot, M., 1805W Balzotti, M., 1021T Bamezai, R., 3262F Bamezai, R. N. K., 1993T Bamshad, M., 2346W Bamshad, M. J., 55, 74, 94, 148, 171, 301, 1842F, 2740W Bancroft, E. K., 1109F* Banda, Y., 112, 118, 421F, 2140T, 2513F, 3342T*, 3383W Bandera, E. V., 2202W Bandiera, S., 522W Bandinelli, S., 2148W Banerjee, A., 361 Banerjee, N., 3316F Banerjee, P., 1992W Banerjee-Basu, S., 446W Banfi, S., 2950W* Banikazemi, M., 693F Banitalebi, G., 2013W Banka, S., 2852T* Banks, E., 288 Bannasch, D., 2778F Banning, M., 979W Banning, M. J. G., 955W Bansal, V., 3615F* Banser, L., 2664F Banwell, B., 2554T Bao, S., 557F, 2254T* Bao, Y., 1146W Bao, Y. H., 1974W Bapat, B., 3478T Baraban, S. C., 2779W Baradaran-Heravi, A., 2682F* Baraitser, M., 124 Baral, V., 842F, 2727F Baran, Y., 3360T Barann, M., 567F, 582W Baranova, M., 3263W Baratela, W. A. R., 3184F* Baratta, S., 2781F Barb, J., 260 Barba, M., 2235W* Barbalho, P. G., 2373W* Barbalic, M., 1688T Barbany, G., 1024T, 1035W, 1126T Barbarot, S., 3066F Barbaroux, C., 1205F Barber, G., 3612W Barber, R. E., 3158F Barber, T., 1369F Barber, T. D., 1235F Barbosa, A. P. M., 3272W Barboza, J., 3659F, 3669F* Barcellos, L., 1415W, 3454T, 3458T Barcellos, L. F., 1289W, 1301W, 1414F, 1455T, 1924T* Barcellos, N., 879W Barcelos, F., 1977W Barcia, G., 202* Barczyk, K., 2759T Bardakjian, T., 810F, 3004T*, 3179W Bardoni, B., 513F, 817F* Barea, J., 3120F* Bareke, E., 394, 1207T, 1215W Barešová, V., 322 Barett, A., 3441T Barfield, R. T., 66, 1422T* Barg, C. J., 142* Barić, I., 672T Barillot, M., 841F Baris, D., 1091F, 1092W Barisani, D., 1330F Barisic, N., 201 Barišić, N., 2948T Barizzone, N., 2095T Bar-Joseph, I., 53 Barker, A., 78 Barker, J. N., 1927T Barker, J. N. W. N., 154 Barkovich, A. J., 266 Barletta, C., 3364F, 3402T Barmada, M. M., 1647T, 1672T, 1673T, 1920W, 1921T, 2040W*, 2099F, 2125T, 2521T, 3078F Barnard, J., 1659T Barnes, A. M., 222* Barnes, C. P., 2576F Barnes, D. R., 1492F* Barnes, K., 536W Barnes, K. C., 158, 171, 1558F, 1900T, 2043W, 2346W Barnes, L. L., 343 Barnes, S., 690T, 1860F Barnett, I., 2334W* Barnhart, M., 3644W Barnholt, K. E., 626T, 1017W, 2087F* Barnicoat, A., 2755W Barnwell, J., 348 Barojas, E., 3226F Barojas, P., 3226F* Baron, J., 1292W, 3465T Barp, J. D., 3114F Barr, C., 2545T, 3509T* Barr, T., 2221T Barragán-Hernandez, M., 1121F Barral, S., 1892F Barreiro, L., 3260W Barreiro, L. B., 2031W Barreto da Silva, M., 1968W, 2017T* Barrett, A., 44, 583F Barrett, A. J., 1259F Barrett, B., 1066T Barrett, C., 395 Barrett, C. L., 1051T* Barrett, J., 101, 156*, 291, 364, 453F, 2399F Barrett, J. C., 35, 37, 153, 354, 1967F Barrett, J. H., 211* Barrett, L., 3419T Barrett, M. T., 1186T Barrett, T., 2703F, 2767W Barrett, T. G., 2787F Barrientos, M. P., 926T Barrionuevo, B. A., 9 Barrios-García, T., 3504T Barrois, Y. E. G., 1711T Barros, A., 2982T Barros-Nunez, P., 3154F Barroso, A., 1213T Barroso, I., 33, 43, 45, 2090F, 2123F, 2147F Barrowdale, D., 208, 1492F Barrsos, I., 1954T Barry, B. J., 266 Barry, W., 147 Barsh, G., 2223W Barsh, G. S., 3318T Bar-Shira, A., 704T Barsottini, O., 2642F Bartek, J., 1171T Bartel, F., 2826F Barth, P., 2759T Barth, P. B., 2909T Barth, P. G., 197 Bartha, I., 2050T Barthez, M.-A., 403, 2536T Bartholdi, D., 3240F Bartholomew, A. J., 2552F Bartkova, J., 1171T Bartlett, C. W., 2381F, 2544W Bartlett, J., 245 Bartman, T., 196 Bartoli, M., 328 Bartolomei, M., 3082F Barton, A., 2160W Barton, D., 1874F Barton, L. V., 1717W* Barts, J., 493F SPEAKER AND AUTHOR INDEX *Presenting Author

340 338 SPEAKER AND AUTHOR INDEX Bartsch, O., 849F*, 3266W Barzilai, N., 1319W Basang, B., 3317W Basehore, M. J., 2901F Basel-Vanagaite, L., 105, 126, 3185W* Basford, M., 1602T Bashir, A., 3724W Bashover, E., 3331F Baskin, B., 2554T Baskin, L. S., 1352W, 1885T Bass, F., 348 Bass, H., 3059W Bassell, G., 540W Basset-Seguin, N., 29, 1062W Bassett, A. S., 2428T, 2467T, 2544W, 2575T Bassett, S. S., 2648F Basso, M., 896T, 899W Bassuk, A., 419F Bassuk, A. G., 1910F, 2750T Bastarache, L., 3622W Bastie, J.-N., 2716W Bastin, J., 737F Basto, J. P., 2736F Basu, A., 3343F* Batai, K., 1009T*, 2014T Bates, L., 2405F Batey, A. Y., 2978T Bathgate, A., 153 Batish, S. D., 63 Batista, D., 300, 889W, 3097W Batista, D. A. S., 935W Batlevi, Y., 2628W Battaglia, A., 881W*, 3050F Battaloglu, E., 201, 2948T Battelino, T., 2688F, 2710W Battersby, B., 327 Battiston, E., 2799F Battle, A., 369*, 2372F Batzer, M. A., 600F, 3270T Batzoglou, S., 397 Bauchet, M., 2223W Baudouin, V., 324 Bauduer, F., 716T Bauer, A., 132 Bauer, C. P., 2102F Bauer, J., 2557T Bauer, J. W., 297 Bauer, M., 1176W Bauer, P., 684T*, 1200W, 1233W Bauer, T., 236 Bauernhofer, T., 1115F Baugher, J., 3374W Baujat, G., 915W, 3129W Baumann, C., 3172F Baumert, J., 1659T Baur, J., 534W Baurecht, H., 1939T, 1942T, 2226W Bauwens, M., 539F Baux, D., 2947W Bauzon, F., 615T Bavdekar, A., 700T, 2803W Bawcom, A., 730T Baxter, A., 3167W Baxter, S., 248, 1676T*, 2021F Baxter, T., 2221T Bayés, M., 54, 2303F, 2326T, 2578T Bayet, B., 2002T Bayetti, K., 794W Baylor-Hopkins Center for Mendelian Genetics, 2908W Baylor-Hopkins Center for Mendelian Genomics, 360, 2798T, 2883F Bayoumi, R., 160 Bayrak-Toydemir, P., 225 Baysal, B. E., 3294T*, 3523T Bazett-Jones, D., 1050W Bazin, A., 77 Bazin, D., 2759T BCAC, 209 Bchetnia, M., 778W Beadling, C., 1237T BEAGESS Study Investigators, 2190W Beales, P., 324, 2755W, 3240F Beales, P. L., 216, 219, 2955F, 3211W Bean, L. J., 2069F Bean, L. J. H., 253, 1349W, 3042F Beasley, E., 133, 1232F, 3670W Beatty, S., 1897T Beaty, K. G., 3344W* Beaty, T., 1076F, 2043W, 2057F, 2325W Beaty, T. H., 1425T, 1472W, 1512T*, 1558F, 1900T, 2249F, 2346W, 3609F Beauchamp, C., 1982F Beaudet, A. L., 314, 430W, 432W, 759W, 898T, 1735W, 1742W, 1757W, 1761W, 2403W Beaudoin, M., 1906T, 2319W Beaulieu, C. L., 701F, 2800W* Beck, C. R., 428W* Beck, L. A., 1900T Beck, T., 1093T, 1256F Beck, T. F., 834F, 839F, 2678T* Becker, A. B., 1465F Becker, C., 2861T Becker, D. M., 1652T, 1710T Becker, E. B., 2649W Becker, F., 857W Becker, J., 806F, 2088W* Becker, L. C., 1652T, 1710T Becker, R. C., 1594T Becker, T., 106, 1332T, 1423F Beckhaus, T., 782W Beckman, K. B., 2372F Beckman, L., 753T Beckmann, J. S., 62, 110, 299, 1387F, 1800F, 2090F, 2458T Beckmann, M., 3153W Beckmann, N. D., 62, 299 Beck-Peccoz, P., 2701W Bedard, P. L., 135, 1824F Bedford, J. S., 948T Bedja, D., 240 Bedoya, G., 3327T, 3360T Bee, G., 3717F Beecham, A., 1635T, 2330F Beecham, A. H., 270*, 1638T, 2049W Beecham, G., 347, 1871F, 2330F, 2603F, 2637W Beecham, G. W., 344, 1571W*, 1644T, 1957T, 2498F, 2583W, 2586W Beekman, M., 119, 1308T, 1436W, 2035T, 2076W, 2080T, 2116T Been, L., 474W* Been, L. F., 1933T Beer, M. A., 258, 545F Beery, T., 1860F Beesley, J., 210 Beetz, C., 2930T* Beg, A. A., 2470T Beg, M. B., 871W Begay, T., 988T Begemann, M., 3111W Beggs, A., 2811F Beggs, A. H., 1769W, 3219W Beggs, W., 3303T Bego, T., 3286F Beguin, S., 2674W Begum, F., 253, 1438F* Behera, B., 3207W Behr, E. R., 86, 2699T Behrendtz, M., 1023W Behrens, F., 2160W Behrens, T., 342 Behrens, T. W., 306, 2091W Beier, D. R., 825F Beierbach, A., 2474F Beinat, M., 325 Beiraghi, S., 821F* Beirnes, K., 2849T Beiser, A., 123 Beiswanger, C., 966T Bejerano, G., Session 5, 286* Bekele, E., 3322F Bekheirnia, M. R., 314, 1742W Bekris, L. M., 2646W* Belaidi, H., 2306F Belangero, S. I., 2533T, 2534F, 3045W Belay, G., 3303T, 3338W Beldjord, C., 890T Beleggia, F., 3214F Beleza, A., 1968W, 2017T Beleza, S., 2223W, 3318T* Beleza-Meireles, A., 201, 2948T Belgian Neurology Consortium and European Early-Onset Dementia Consortium, 2815W Belgrader, P., 3011T Belgrave, D., 2211W Belitsky, G., 1180T Bell, D. A., 257 Bell, G. I., 2192F Bell, J., 583F, 3453T Bell, J. T., 44, 2029T, 3441T Bell, M. J., 1884W* Bell, R., 293, 1783W Bellam, N., 1292W Belleau, P., 1951T* Bellis, C., 533F, 1912T, 2146T, 2308T* Bellivier, F., 259 Bello, S. M., 2675T Bellon, L., 493F Bellone, M., 1036T Bellone, S., 2827W Bellos, E., 429F* Bellucco, F. T. S., 2534F Bellus, G., 3244F Belman, A., 1924T Belmont, J., 1688T Belmont, J. W., 337, 1646T, 2158T, 2189F Belousov, A., 242, 3574W Below, J., 223 Below, J. E., 49, 2740W* Belton, J., 255 Belton, R. L., 2185T Beltrami, A., 2809W Beltrami, C. A., 2809W Beltramo, J., 3362W Belucco, F. T., 3045W Belyantseva, I. A., 2663T Bembi, B., 692T*, 2809W Béna, F., 67, 2937F Ben-Abdallah-Bouhjar, I., 944T* Benachi, A., 72, 894T Ben-Ami, I., 3002T Benamor, I. M., 3169W* Benard, L., 1698T Ben-Asher, E., 53, 2875W Benatar, M., 347, 2637W Ben Avraham, D., 3336T Benayed, R., 1252T Bencaz, A., 1081T Ben Charfeddine, I., 1751W, 2744T Benchek, P. H., 1575T* Ben-Chetrit, E., 746T Bender, F., 685F Bender, H. A., 168 Bendik, E., 1787W, 1853F Bendjilali, N., 589F* Bendsen, E., 805F Bendtsen, J., 3528W Bene, J., 3283F Beneken, C., 1115F Benet-Pagès, A., 2922F Bengesser, K., 939W, 2791W Benhamed, S., 330 Benhamou, S., 1496W Benistan, K., 772W, 890T Benit, P., 3241W Benitez, J., 27, 206, 1150T, 1213T Benjamin, D. J., 2505W Benjamin, E. J., 1585T, 1677T *Presenting Author

341 SPEAKER AND AUTHOR INDEX 339 Benjamin, E. R., 1684T Benjamin, J. S., 2677W* Benjaminy, S., 1802F* Ben-Khelifa, H., 944T Benko, E., 522W Benlier, N., 1935W, 1938W Benlloch, S., 205, 1148F, 1011W Benner, A. T., 2998T Bennet, R., 3278W Bennett, C., 214 Bennett, D., 2488T, 3450T Bennett, D. A., 343, 380, 3417T Bennett, J., Session 23, 806F* Bennett, R., 1209W, 1237T, 1246T, 3714W, 3717F, 3719F Bennetts, B., 3167W Benoist, C. O., 528W Benoist-Lasselin, C., 763W Benoit, V., 3098F, 3181W* Ben-Omran, T., 8, 2899W Benowitz, N. L., 642T Ben-Pazi, H., 2447F Ben-Salem, S., 160 Ben-Shachar, S., 704T* Bensussan, A., 29, 1062W Bentham, J., 3382F* Bentley, A., 1515T*, 3533F Bentley, D., 1238F, 2939T, 3663F Benton, G., 2089T* Benton, G. M., 1223F, 1620T Benton, M., 1042T, 1912T Benyahia, B., 889W Benyamin, B., 2407T Benzacken, B., 901W, 973W, 2784F Ben-Zeev, B., 53, 660T, 731F Berardinelli, A., 1776W Berberich, S., 1875F, 1882T Berberich, S. L., 1344T Berboso, A. D., 2975T Berchuk, A., 210 Bercovich, D., 1165T* Berenson, G. S., 2274W Berezney, R., 82 Berg, A., 309, 3264T, 3267T Berg, A. S., 1016F, 1107W Berg, C., 1012T Berg, D., 1119W Berg, J., 645T, 1082F, 1724W Berg, J. P., 576W Berg, J. S., 231 Bergadá, I., 361 Bergamin, G., 2799F* Bergamin, N., 2809W Bergan, S., 3614W Bergantino, F., 1060T Bergbaum, A., 906T Berge, K. E., 1607T Bergen, A. W., 642T* Berger, I. M., 1612T Berger, K., 2568W Berglund, L., 619T Bergman, M., 1857F* Bergmann, P., 2769F Bergmann, S., 62, 1281T Bergstrom, D., 983F Bergstrom Lucas, A., 975W, 3726W* Berhane, Y. B., 1108T Béri-Dexheimer, M., 2770W Berkofsky-Fessler, W., 242 Berkovic, S. F., 203, 2741T, 2897T, 2898F Berletch, J. B., 379 Berlin, D., 966T Berman, J. R., 3690W* Bermúdez, M., 2990T Bern, O., 3002T Bernabe-Gelot, A., 2674W Bernal, W., 535F* Bernaldez, R., 1131W, 1141T Bernal Villegas, J., 2990T Bernard, A., 2444F Bernard, D., 2701W Bernard, G., 2786T, 2797W Bernard, N., 3723F Bernard, O., 325 Bernardinelli, L., 2039F Bernardini, C., 2235W Bernardini, L., 881W, 943W, 2777T, 3050F Bernardo, D. V., 2232W, 3295F* Bernbaum, J. B., 2443T Berndt, S., 205, 2080T, 2241W Berndt, S. I., 108, 1148F, 2090F*, 2202W Bernert, G., 201, 2948T Bernier, D., 954T Bernier, F., 1052F, 3665F Bernier, F. P., 3095W, 3127W, 3141W, 3173W Bernier, G., 1226F Bernier, R., 10, 14, 299, 2406W, 2439W Berninger, V. W., 2549F Bernstein, A., 1289W, 1301W, 1414F, 1455T Bernstein, B., 380 Bernstein, K. E., 130 BernsteinJon, J., 2479T Beroud, C., 3610W Beroukhim, R., 266 Berry, D., 2097W Berry, D. J., 271 Berry, F. B., 2474F Berry, G. T., 326 Berry, M., 3648W Berry, R. J., 1304W Berry, S., 725F* Berry, S. A., 774W Berson, E. L., 1756W Berstein, L., 2202W Bertelsen, S., 340, 2582F Berthele, A., 2086T Berthet, P., 1212W Bertin, T., 411 Bertin, T. K., 2854W Bertini, E., 54, 943W, 2777T Bertola, D. R., 439F, 895W, 2232W, 3152F, 3160F, 3184F, 3250F Bertolin, C., 1732W* Bertoni, A., 1661T Bertram, L., 2520W Berulava, T., 3524T* Berutti, R., 113, 157, 177, 547F, 1451W, 2001W Berwouts, S., 1874F Besnard, T., 2947W Besse, A., 2942T Bessee, A., 676T Bessenyei, B., 3070F Bessert, D., 2664F Bessières, B., 77, 403 Bessling, S. L., 79, 818F Betancourt, M., 1022F Betancur, C., 901W Betley, J., 366, 1176W, 3663F Betta, P. G., 1153T Bettella, E., 1755W*, 2795T Betti, M., 1153T Betting, L. E., 2233T Bettinger, J. C., 640T Betz, R. C., 106 Beunders, G., 98 Beuten, J., 314, 1742W Bevan, L., 2138F Bevan, S., 1313W Bevans, M., 711F Beverloo, H. B., 980T Bevillard, J., 2877F Bevins, C. L., 449F Bevot, A., 3109W Beyan, C., 1136F Beygo, J., 2595W, 3496T* Bezerra, M. A., 426W Bezerra, M. A. C., 2718F, 2751F Bezieau, S., 3066F, 3233W Bézieau, S., 1204T Bhagat, G., 1031F Bhagwat, A. M., 2382W Bhakta, M. S., 1625T Bhamani, F. I., 871W* Bhandari, A., 480W Bhangale, T., 1539T Bhangale, T. R., 2091W Bhanwer, A., 1993T* Bhanwer, A. J. S., 1703T Bhardwaj, A., 2726T* Bhaskar, A., 182 Bhat, M., 2644T Bhat, V., 2776W Bhati, S., 2692W Bhatia, G., 89, 350, 1577W, 3407W* Bhatia, K., 2581T Bhatia, T., 2382W Bhatnagar, S., 984W Bhatt, D. L., 317 Bhattacharjee, S., 1372F* Bhattacharya, S., 3271F Bhattacharya, S. S., 2183F, 2966T Bhatti, A., 3078F Bhatti, M. A., 2959W Bhatti, S., 630T Bhave, G., 3622W Bhidayasiri, R., 2749W Bhide, S., 1758W Bhonker, Y., 2919F Bhosle, S., 2005T Bi, D., 2419T Bi, W., 432W, 893W, 898T, 952T*, 2395T Bian, H., 242 Bianba, B., 3317W Bianchi, D., Session 79, 765W Bianchi, l., 2695W Bianciardi, L., 2604W Bibat, G. M., 2962W Bibi, S., 1748W Bibikova, M., 596W, 1238F*, 3451T Bicalho, M., 2404T Bick, A. G., 1677T* Bickel, J. P., 1836F Bickley, V., 967W Bidichandani, S. I., 381 Bidlingmaier, M., 2080T Bieber, M., 1802F Bieche, I., 1212W Bielak, L. F., 2275T Bielawny, T., 3276T Bielecki, R., 1093T Bielinski, S. J., 618T, 1351F Bierings, M. B., 3164F Biernacka, J. M., 605T*, 1426F, 2516F Bierut, L., 2114F, 2582F, 2598W, 2650T Bierut, L. J., 2170T, 2535W Biesecker, B. B., 316* Biesecker, L. G., Session 73, 33, 316, 358, 674T, 1690T, 1696T, 2470T Bieth, E., 572W, 1796W Biewald, M., 1272W Bigdeli, T. B., 2500T*, 2594F Bigelow, A., 1441F* Bigham, A. W., 3290W*, 3360T, 3380W Bignon, Y.-J., 1212W Bilan, F., 77 Bilbao, J. R., 1330F Bilder, R. M., 639T Bilgen, R., 2924T Bilguvar, K., 2924T, 3132F Billaud, J., 3560W, 3677F* Billings, L., 249* Biloglav, A., 1023W Binder, E. B., 1422T, 2383T, 2483F, 3480T Bindoff, L. A., 2451W Bing, N., 1491T Bini, L., 2695W Binia, A., 3466T, 3486T Bin-Khamis, G., 2734W Binkley, G., 3612W Binquet, C., 1293T Bint, S., 906T Birayavci, C., 1164W, 1178F Biray Avci, C., 1166F*, 1172F Birch, D. G., 3234F Birch, P. H., 1840F, 1846W Birch, S., 2167T Bird, A. C., 2072F Bird, L., 3120F SPEAKER AND AUTHOR INDEX *Presenting Author

342 340 SPEAKER AND AUTHOR INDEX Bird, T. D., 1753W Birk, O. S., 2931F* Birk, R. Z., 2931F Birkeland, S. R., 339 Birkenhager, R., 3203W* Birkenhäger, R., 2753T, 2829F Birmingham, D., 458W Birnbaum, R. Y., 1995W* Birney, E., 35, 3732W Birzele, F., 242 Bis, J. C., 1445W, 1585T, 1592T*, 1599T, 1653T Bischoff, F. Z., 1255T Bisgaard, H., 2167T, 2168F Bisgaard Pedersen, A.-M., 889W Bishay, D. L., 968T Bishop, B., 1729W Bishop, D. T., 211, 213 Bishop, J., 3719F* Bishop, K., 664T, 1983W Bishop, P. N., 2072F Bishopric, N. H., 86 Bissig, K., 165 Bitner, M., 126 Bitoun, E., 2649W Bitoun, P., 2784F* Bitter, H., 3574W Bitti, P., 2039F Bivina, L., 3151W Bizet, A., 324 Bizon, C., 170, 231, 1437T Bjeda, D., 80 Bjork, B. C., 825F*, 2670F Bjornsson, H. T., 3097W Blach, C., 1636T Blach, C. P., 2946F Black, G. F., 2003F Black, P. M., 266 Blackburn, A. N., 2495F Blackburn, E., 96, 112 Blackett, P. R., 1933T Blackman, S., 1322W, 2953W Blackwell, T., 1373W*, 1389T, 1513F, 2375F Blackwell, T. W., 176, 1923W, 2308T, 2339F Blackwood, D., 2590T Black-Ziegelbein, E. A., 60 Blair, E., 2939T Blair, I. P., 2816T Blair, J. D., 3429T, 3445T* Blair, M., 3654W Blake, T. L., 664T Blakemore, A. I. F., 1432F, 2162F Blakesley, R., 1515T Blancato, J., 3080F Blanchard, C., 716T, 841F Blanche, H., 2303F Blancher, C., 3435T Blanco, A., 1059W Blangero, J., Session 8, 176, 533F, 1280W, 1282F, 1406W, 1458T, 1513F, 1912T, 1923W, 2061W, 2146T, 2308T, 2309F, 2339F, 2589W, 2651F, 3434T Blank, R. D., 710T* Blankenberg, S., 275, 1669T Blanton, S., 57 Blanton, S. H., 1635T, 1638T*, 1871F Blasco, M., 546W Blaser, S., 675F, 3013T, 3186F, 3196F Blaszkewicz, M., 1335T Blattmann, P., 1630T Blattner, F., 3671F Blauw, H. M., 431F Blazer, K., 321* Bleazard, T., 3259F* Blekhman, R., 537F*, 2029T Blelloch, G., 3376F Bleyer, A., 322, 1725W Blitzer, M., 1729W Block, G. J., 55, 2224T* Bloem, A. C., 3164F Blomenkamp, K., 735F Blomqvist, C., 1006T, 1117T, 1171T, 1265F Blondal, T., 1194W Bloom, M., 2452T Bloom, R. J., 2468F, 3659F* Bloss, C. S., Session 9, 146*, 1839W Blot, W. J., 2202W Blouin, J.-L., 2877F* Blow, M. J., 4, 407 Blum, C., 2262W Blum, M. G. B., 3356W Blümel, P., 3111W Blumenfield, J., 3210F Blumenstiel, B., 322, 1725W*, 3711F Blumenthal, I., 68, 70, 554W* Blumentritt, C., 2557T Blumkin, L., 2447F Boackle, S. A., 1979F Boardman, L., 1267T* Boaretto, F., 1732W, 2708T, 2799F Bobadilla-Morales, L., 3188F Bober, M. B., 2855T, 3150F* Boca, S. M., 1372F Bochukova, E., 43 Bock, H.-G., 898T Boczek, N. J., 2885T* Bodamer, O. A., 297 Bóday, A., 2865F Boddaert, N., 202, 329, 522W, 3240F Boddicker, N., 2717T Bode, A., 262 Bodemer, C., 128*, 3140F Bodenhofer, U., 95* Bodereau, V., 3157W, 3241W Bodily, P., 3561F Bodmer, W., 181 Bodo, J., 283, 3303T, 3338W Bodria, M., 845F Bodzioch, M., 2761W Boeckxstaens, G. E., 2088W Boehm, C., 227 Boehnke, M., 46, 88, 117, 176, 280, 1389T, 1448W, 1452T, 1513F, 1608T, 2090F Boehringer, E., 3044F Boeke, J. D., 504W Boekholdt, S. M., 1604T Boengers, E. M. H. F., 216 Boerkoel, C., 359, 2442W, 2610W Boerkoel, C. F., 755W, 2682F, 2849T, 2938W, 3543F Boerkoel III, C. F., 2870T* Boerwinkle, E., 121, 170, 174, 183, 187, 192, 272, 349, 648T, 1445W, 1508W, 1520W, 1585T, 1592T, 1599T, 1932W, 2577W, 2880F, 2934F, 3576W, 3597F Boese, B. J., 2301W Boesten, I., 708T Boettger, L. M., 437F Boezen, H. M., 1330F Bofferding, K. M., 2740W Bogardus, C., 1300F, 1917W, 2018F, 2038T Bogdanovic, R., 216 Bögershausen, N., 2944W* Boggan, J., 2151W Boggs, B., 330 Bohlega, S., 2743W Böhm, B., 2160W Bohm, J., 328, 2681T* Bohn, J. M., 3635F Bohnsack, J., 2143T Bohorquez, S., 951W, 3074F Bohossian, N., 624T Bohr, V. A., 2244W Boileau, C., 56, 1607T, 2266T, 3341W Boissin, C., 2752W Boivin, M., 2545T Boiy, T., 3193W Bojanowski, M., 1670T Bojesen, S. E., 206, 210 Bokhoven, H., 672T Boks, M. P. M., 431F, 2553W, 2661W, 3474T Boland, J., 30, 1218W, 1517W, 3683F* Bole-Feysot, C., 104, 324, 403, 2808F Boles, J. W., 970T Bolon, B., 2668W Bolz, J. E., 3550W Bolze, A., 365* Boman, H., 2451W, 3215W Bombard, A., 3016T Bombard, A. T., Session 79 Bombard, Y., 142, 1841W* Bommakanti, K., 1601T Bona, G., 2827W Bonafè, L., 164, 3190F Bonaldi, A., 874T, 882T*, 3250F Bonalumi, A., 870T, 3055W Bonassi, S., 1153T Bond, D., 3694W Bondon-Broders, F., 842F Bondurand, N., 842F, 843F, 2727F* Bondy, C. A., 1743W Bonet, C., 987W Bonetti, M., 215 Bongers, E. M., 100 Bongers, E. M. F. H., 2925F Bongers, E. M. H. F., 80 Boni, C., 1759W Bonilla, E., 1022F Bonin, M., 1200W*, 3109W Bonithon-Kopp, C., 1293T Bonkowsky, J., 2951T Bonnefont, J.-P., 72 Bonnefont-Rousselot, D., 1607T Bonnemann, C., 711F, 2945T Bonnen, P., 676T, 2942T* Bonner, J., 463F Bonnet, C., 2770W Bonnet-Wersinger, D., 2679F Bonneux, S., 2104T Bonney, E., 3446T Bonnière, M., 77, 403 Bono, S., 71 Bonomo, J. A., 2310W Bontrop, R., 285 Bontrop, R. E., 3266W Bonyadi, M., 57 Booker, J., 688T Boomsma, D., 434W, 2097W Boomsma, D. I., 2175W Boon, L. M., 83, 1015T, 1611T Boone, P. M., 430W* Boonvisut, S., 2009F Boonyaratanakornkit, J., 3684W Boos, H. B. M., 2526W Booth, F., 954T Booth, F. A., 2422T Booth, K., 2867T Boquett, J. A., 3031T Boran, G., 1624T Boraska, V., 2522F* Borck, G., 105* Borecki, I., 18, 1210T, 2040W Borecki, I. B., 1641T, 1650T, 1661T, 1913F, 2275T Borel, C., 3516T Borenstein, E., 10 Borgan, C., 893W Borges, M. G., 2394W, 2876T Børglum, A., 2369F Børglum, A. D., 2699T Borgman, S., 1860F Boright, A. P., 2109W Borja, J., 2036F Borjas, L., 3364F, 3402T Borlido, C., 2408F Bornman, M. S. R., 1085F Bornstein, E., 957W *Presenting Author

343 SPEAKER AND AUTHOR INDEX 341 Borochowitz, Z. U., 3202F Boroevich, K. A., 396, 2051F Boronat, S., 3208F Borowsky, M., 326 Borrel, C., 561F Borrell, M., 1651T Borrero, E., 3155W Borsani, G., 3256F Borsuk, LA., 1165T Bortolai, A., 3045W Bortolini, C., 3327T Bose, P., 2069F, 2312F Bosl, G., 998F Bosley, A., 1088F, 2833W Bosley, T., 2997T Bosman, A., 807F* Bosoi, C. M., 1910F Boss, J., 3310F Bossé, Y., 1465F, 1655T, 1947W Bostan, O., 1708T Boster, J., 2223W Bostick, M., 3727F* Boston, J., 1316W, 1377T, 1671T, 1928F, 2037W Botigué, L. R., 3345T Bottani, A., 2937F Bottiglieri, T., 168 Bottomley, M., 2852T Bottomley, W., 45 Boualga, K., 1268F Boucher, G., 2319W Bou Dagher-Kharrat, M., 3349F Boudes, P., 732T, 745F Boudes, P. F., 772W Boudreau, R. L., 2636F* Bouffard, G., 1515T Bougeard-Denoyelle, G., 1090T, 1222T Boughey, J. C., 1247F Bouhlal, Y., 501F*, 1687T Bouhnik, S., 2234F Boukhris, A., 2820F Boulanger, S., 3216F*, 3218F Bouligand, J., 894T Boulling, A., 854F* Bouquillon, S., 299 Bouraoui, S., 2744T Bourassa, C., 1670T, 2306F Bourbon, M., 1968W, 2017T Bourgeois, B. F. D., 266 Bourgeron, T., 259 Bourque, G., 3439T Bourrat, E., 128 Bourredjem, A., 1293T Boussofara, L., 2744T Boutaoui, N., 3449T Boute, O., 2002T Boute-Benejean, O., 3172F Bouvet, R., 2126F Bouvier, R., 3129W Bouzigon, E., 1361W, 1461T, 1941W, 2079W, 2248T Bova, G. S., 1242W Boven, L. G., 1619T Bovolenta, P., 2810T Bowcock, A., 2581T Bowcock, A. M., 154, 1952F Bowden, D., 1706T, 2332T Bowden, D. W., 178, 1648T, 1661T, 1879T, 1888T, 2310W Bowden, S., 458W Bowdin, S., 1704T, 1738W, 3142F* Bowdish, B., 3530W Bowen, B. M. P. M., 2045F* Bowen, M., 17 Bower, A., 1856F Bowes, J., 2160W Bowling, B., 1860F*, 1861F Bowling, K., 2556W Bowne, S. J., 3234F Bowton, E., 247, 647T Boxer, A. L., 2639F Boyaci, H., 2924T Boyadjiev, S., 1791W Boyadjiev, S. A., 2151W Boyadjiev Boyd, S. A., 3070F, 3151W* Boyanova, O., 3481T Boyar, F., 876T Boyar, F. Z., 3522T* Boyce, J., 3700W Boycott, K., Session 74, 198 Boycott, K. M., 131, 701F, 1775W, 2790F, 2794W, 2800W Boyd, B., 3, 2998T Boyd, J. H., 1632T Boyd, K., 1108T Boyden, L. M., 2915T* Boyer, J., 1845W Boyer, T. G., 125 Boysen, C., 3528W*, 3641F, 3662W Bozon, V., 136 Bozorgmehr, B., 2436W* Bozza, M., 3050F* Bozzao, C., 760W Bozzi, I., 2404T BPC3, TNBCC, and BCAC, 1150T Braastad, C. D., 3522T Bracci, P., 1152W, 3623F Bracci, P. M., 2055W Brackett, D., 474W Bradfield, J., 319, 1915T*, 1996T, 2067W, 2121W, 2229W Bradford, Y., 247, 1447F Bradley, A., 3507T Bradley, B., 2420F, 2483F Bradley, D. T., 2843T Bradley, E. J., 197, 2909T Bradley, F., 3245W Bradley, M., 1939T Bradley, T., 1133F, 3186F Bradman, A., 3458T Bradman, N., 3322F Bradrick, S., 2454W Bradshaw, P., 1047W* Bradshaw, P. S., 1046F Brady, S. M., 2702T Bragat, A. C., 745F Brage, S., 2359T Bragg-Gresham, J., 113*, 1568W Bragin, E., 291 Brahmachary, M., 3516T Brainbridge, M. N., 1761W Brais, B., 2797W, 2900T Bralten, J., 1498F Brambilla, P., 624T, 2095T Brancati, F., 131, 2760F Branch, S., 136 Branco, C. C., 2288F Branco, M., 3019T Branco-Madeira, F., 2225F Brand, S., 1942T Brandalize, A. P. C., 3031T* Brandao, L. R., 2330F Brandl, E., 612T Brandon, J., 1359T Brandt, T., 3724W Brandt, W., 2833W Branham, K., 2135F Branham, K. E., 2183F, 3234F Branson, H., 675F Brant, S. R., 1381F, 2319W Brar, B., 2978T Brar, H., 2978T, 3020T Brar, S., 2830W* Brasil, A. S., 3160F Brasington, R., 2047T Braslavsky, D., 361 Brass, A., 2231F Brassat, D., 624T Bratanič, N., 2688F, 2710W Bratina, N., 2710W Bratton, E., 3038F Braun, T. A., 2750T Braun, T. R., 1933T* Braunholz, D., 204, 2958F* Brautbar, A., 187, 1688T* Braverman, A. C., 80 Braverman, N., 722T* Braverman, N. E., 8 Braverman, R., 238 Bravi, C. M., 3362W Bravo, H., 2566T Bravo, H. C., 260 Bravo, L. E., 3388F Braxton, A., 1742W Braxton, A. A., 1735W, 1761W Bray, M. S., 2189F Bray, S. M., 1235F Brazilian Network Members, 879W Brazma, A., 567F, 582W Bready, B., 3529F*, 3656W, 3703F Breast Cancer Association Consortium, 206 Brebner, A., 673F, 705F*, 706T, 719F Breda, C., 2641T Breden, F., 375 Bredrup, C., 2451W Brefort, T., 515F Brehm, J., 3449T Breit, H., 830F Brem, R. B., 571F Breman, A. M., 432W Bremer, R., 1064F Bremer, S., 3614W Bremnes, R. M., 991T Brémont, F., 572W Brennan, C., 177, 3664W Brennan, C. A., 2329T Brennan, E. P., 2307W Brennan, K., 2042F Brennan, M., 2084F Brennan, P., 1012T, 1496W Brennand, K. J., 436W Brennecke, S. P., 2309F Brenner, S., 499F* Brenner, S. E., Session 4, 362 Bressac-de Paillerets, B., 1158W Bressan, R. A., 2533T, 2534F Bressman, S. B., 2801T Bresson, J. L., 129 Breton, A., 3694W Breton, B., 3680W Brett, M. S., 2889F* Breu, H., 1232F, 3717F Breuhaus, B., 2778F Breuning, M., 2701W* Brewer, F., 884T Brewer, V., 3119W Brezina, P., 78* Brezina, P. R., 2998T Briand, A., 1796W Briand-Suleau, A., 843F, 894T*, 3157W, 3241W Briani, C., 2799F Briault, S., 3246F Brice, A., 29, 2638T, 2770W, 2820F Briceno, I., 951W*, 3074F Brick, K., 417F*, 592W Brick, L., 103 Bridges, S. L., Jr., 2047T Briggs, F., 1415W, 1924T Briggs, F. B. S., 1289W, 1301W, 1414F, 1455T* Briley, D., 630T Briley, L., 630T Brilhante, M. J., 2288F Brilhante, T. B., 3421T Brilhante, V., 327 Brill, P., 3128F Brilliant, M., 2297F, 3622W Brinkerhoff, C. D., 1071W Brinza, D., 1232F, 3670W* Briollais, L., 1500T* Brion, M.-J., 1626T Brisset, S., 894T Brisuda, A., 1012T Britel, L. K., 398 Britto, J. A., 2859F Brkanac, Z., 2406W Brockman, M., 3688W Brockmann, G., 2251T Brockschmidt, F. F., 106, 2557T Brodesser, S., 2869W Brody, J., 584W, 1284T, 1346W, 1503T, 1585T*, 1592T, 1599T SPEAKER AND AUTHOR INDEX *Presenting Author

344 342 SPEAKER AND AUTHOR INDEX Broeckelmann, E. M., 837F* Broeckling, C., 1189T, 1990T Broer, L., 2175W Brofferio, A., 1702T Brohawn, D., 2599T Brohi, Q., 2075F, 2402F Broly, M., 2660F Bromhead, C., 2741T Bronson, P. G., 2091W* Brook, A., 2114F Brook, M., 1150T Brookes, A. J., 3610W Brooks, A., 127 Brooks, A. I., 2170T Brooks, B., 2183F Brooks, B. P., 664T Brooks, J., 1167W Brooks, M., 822F, 1774W Brooks, M. J., 827F* Brooks, S., 316 Broomer, A., 1237T Brophy, P., 419F Brosch, M., 580W Brosh, R. M., Jr., 2692W Brossard, M., 211, 1158W*, 2248T Brothers, K. B., 247, 631T* Broussolle, E., 2638T Brouwer, O., 2909T Brovedani, P., 3050F Brower, A., 725F, 3530W* Brown, A., 546W, 1227W, 1440T* Brown, A. M. K., 135*, 1256F Brown, C., 372, 3514T, 3734W Brown, C. D., 614T Brown, D., 493F, 738T* Brown, E. E., 2046W Brown, J., 686T, 1159T Brown, K., 3133W Brown, K. M., 212 Brown, L., 3446T, 3688W Brown, M., 3682W Brown, M. A., 152, 209, 2053T Brown, M. P. S., 36* Brown, M. R., 202 Brown, N. J., 606T Brown, S., 3446T* Brown, S. G., 978T Brown, S. J., 1216T Brown, W. T., 1986W, 2449T* Browne, V. A., 3290W Brown-Ford, S., 587F* Brown-Gentry, K., 1377T, 1671T, 1713T, 1928F, 2037W*, 2401T Brown-Gentry, K. D., 1316W Browning, B. L., Session 75, 1479T, 1485T, 1487W*, 1537F Browning, S. R., 1479T*, 1485T, 1487W, 1537F Brownstein, C. A., 1769W*, 1799W Brownstein, Z., 2914W, 2919F Broxholme, J., 2939T Brožková, D., 2745F* Bruat, V., 31, 2266T, 3268F, 3341W Bruce, C., 3694W Bruce, I. N., 2160W Bruchim, R., 1303F* Bruckdorfer, K. R., 1626T Brucker, S., 3153W Bruckmann, C., 2058W Brueton, L., 300 Bruford, E., 3651F* Brüggemann, N., 200 Brüggenwirth, H., 3650W Bruinenberg, M., 2282F Brumelle, J., 3512T Brummett, B. H., 1594T, 2481W Brunak, S., 2241W Bruneau, N., 2581T Brunetti-Pierri, N., 127, 164, 433F, 735F Brunner, H. G., Session 74, Session 81, 80, 97, 100, 102, 124, 125, 214, 1734W, 1749W, 2863W, 2925F Bruno, M. K., 2581T Bruno, V., 1330F Brunoni, A. R., 2540F Brunoni, D., 2484W, 2485T, 2540F, 2863W, 3131W Bruns, G. A. P., 82 Brunzell, J. D., 1605T Brusco, A., 550W, 790W Brusius-Facchin, A. C., 747F Brussino, A., 550W Brüstle, O., 236 Bruzel, A., 370 Bruzelius, M., 1651T Bryan, N., 165 Bryans, N., 3672W Bryc, K., 178* Bryne, E., 3096F Bryois, J., 560W* Bryson, L., 1724W* Brzoska, P., 1068W Brzustowicz, L. M., 2381F, 2426F, 2467T, 2523W, 2544W Bshara, W., 3428T Bubela, T., 1802F Bucasas, K., 2542T Bucasas, K. L., 2189F, 2336F*, 2337W Buchan, J. G., 220*, 2860W Buchanan, D. D., 141, 1067F, 1206W Buchanan, T. A., 1916F Buchert, R., 2557T Buchholz, S., 330 Buchkovich, M., 292* Buchkovich, M. L., 46, 2012F Buchner, N., 1279T Buck, D., 2086T Buckett, W., 2842W Buckley, H., 3333T Buckley, K., 1138T Buckley, M. F., 214, 2151W Buckley, N., 3471T Buckstein, M., 1309F Bucourt, M., 77 Budak, B., 594W Budde, B. S., 2861T* Budde, J., 2582F, 2598W Budenz, D. L., 2154W, 2240F Budman, D., 1133F Budowle, B., 3544W Budunova, I., 1181F Bueno, D. F., 813F, 814F, 852F Buermans, H., 813F Buers, I., 2759T Buffa, F., 509F Buffler, P., 2268W Buffler, P. A., 1924T Bugge, K., 404, 2215T, 2671W Bugge, K. E., 387 Buhay, C., 2880F Buhay, C. J., 1757W Buhler, E., 2457W, 2674W Bui, P., 873W Bui, P. H., 1029W* Buijs, A., 3164F Buil, A., 44, 546W*, 560W, 561F, 583F, 1651T Builes, J. J., 3364F, 3402T Buitelaar, J., 1498F Buiting, K., 392, 872T, 3496T, 3500T Buizer-Voskamp, J., 431F* Buizer-Voskamp, J. E., 2526W Bukowski, R., 537F Bukshpun, P., 2389T Bukszar, J., 3442T, 3452T Bulhões, S. M., 2288F Bulik, C. M., 2522F Bull, S. B., 2109W Bullens, S., 763W Buller-Burckle, A., 2260T Bullitt, C., 3560W Bulman, D., 198 Bulman, D. E., 131, 701F, 2794W, 2800W Bulstrode, N. W., 303 Bunce, C., 2072F Bundgaard, M., 3641F Bundo, M., 2435F Bungaard, M., 3662W Büning, C., 1942T Bunker, C. H., 1672T, 1673T Bunting, S., 763W Bunyan, D., 3161W Burbano, R. R., 1008W, 1132T, 3421T, 3502T, 3503T Burbidge, L. A., 1021T Burch, L. H., 606T Burchard, E. G., 158, 1425T, 2296T, 3363T Burden, A. F., 1580W Burdett, L., 1010F, 1012T, 1218W, 1517W Burdett, T., 2108F Burdette, L., 30 Burdon, K. P., 1785W Burgess, D., 3688W Burgess, K. E., 845F Burglen, L., 2770W Burhans, R., 3545F Burin, M., 685F Burke, A., 1649T Burke, B., 2914W Burke, L., Session 28 Burkett, E., 1853F Burkhalter, W., 3085W Burkhardt, H., 2160W Burkley, B., 646T Burlet, P., 72 Burnell, L., 3006T Burnham, N. B., 2443T Burns, D. K., 637T Burns, E., 1444F*, 1594T, 1636T, 3345T, 3395W Burns, K., 1260W Burns, K. H., 504W Burns, T., 1889F Burnside, R. D., 949W Buroker, N., 727F, 3281W* Buros, J., 343, 2528F Burren, O., 453F Burroughs, A., 153 Burton, C., 1021T Burton, J., 1014W Burton, J. E., 3101W Burtt, N., 169 Burtt, N. P., 172 Burzynski, G. M., 545F Busche, S., 31, 256*, 394, 1207T, 1215W, 3439T Busch-Netwich, E., 37 Bush, W., 312, 1668T, 2257T, 2321F Bush, W. S., 1489F, 1634T, 2298W* Bushnell, S., 2561F Buslon, V., 981W Busonero, F., 113, 157, 177, 276, 1516F, 2001W, 2198F, 2329T, 3664W Busse, T., 65 Bustamante, C., 285, 2033F, 3345T, 3563F Bustamante, C. D., 186, 293, 371, 1112F, 1770W, 2087F, 3352F, 3360T, 3361F, 3362W, 3368W, 3380W, 3390T, 3411W Bustamante, M., 2167T Butcher, D., 3482T Butcher, D. T., 3447T*, 3456T, 3489T Butcher, N. J., 2428T* Butler, A. W., 2494T Butler, E., 2579F Butler, M. G., 3054F, 3089W* Butler-Browne, G., 2840T Butt, M., 784W Butte, A., 2230T Butte, A. J., 562W, 1462F Butter, F., 2010W Butterly, L., 3465T Buttgereit, A., 2456F Büttner, C., 3153W Bützow, R., 1026W *Presenting Author

345 SPEAKER AND AUTHOR INDEX 343 Buur Sinding, J., 3641F, 3662W Buxbaum, J., 1520W Buxbaum, J. D., 268, 343, 1530T, 2560T*, 2577W Buxbaum, S. G., 1715T* Buxton, J. L., 1432F, 2162F, 2175W Buyru, N., 2912T Buys, S., 1213T Buyske, S., 1608T, 2042F, 2381F, 2501F*, 3558W Buysse, K., 214 Buzkova, P., 2041T Bwanali, J., 3694W Bybee, J., 3702W Byerley, W., 2590T Byers, P. H., 80, 1759W Bygum, A., 2760F Byrd, G., 2637W Byrd, G. S., 343 Byrge, C., 3239W* Byrne, M., 3610W* Byrnes, A. E., 1532W*, 3659F Byrnes, J., 3321T, 3380W Byrnes, J. K., 3352F, 3365W, 3390T Byrois, J., 561F Bytautas, J. P., 1824F* C Caberg, J.-H., 925W Cabezas, R., 76 Cabot, C., 3538W Cabral, D., 1635T, 1638T Cabral, R., 2814F Cabral, W. A., 222, 2853F* Cabrera, L., 1119W Cabrera, S. S., 3063W Cabrera-Luque, J., 670T Cabrera-Rios, M., 659F Cabriolu, A., 2001W Cacheux, V., 3047W Cadby, G., 1153T Cade, W. H., 2028W, 2185T, 2318F Cadenne, M., 716T Café, C., 2417F, 2502W Caggana, M., 2151W CAGI Participants, 499F Cagnin, A., 2775F Cahayag, R., 784W Cahill, M., 263 Cahn, W., 2526W Cai, C., 553F, 844F, 2612F*, 3558W Cai, F., 1539T Cai, G., 268 Cai, J., 242, 3531F* Cai, X., 266 Cai, Z., 1485T* Caiazzo, C., 71 Caicedo, L., 2631W Cailler, S., 2113T Cailley, D., 473F Cain, C., 2 Cain, S., 2852T Cairney, A. E. L., 1138T Calcagno, D. Q., 1008W, 1132T, 3421T*, 3503T Calcaterra, N., 2673F Caldarazzo, S., 2781F Caldarelli, M., 2235W Calderon, J., 1609T* Calderwood, M., 2660F Caldwell, D. A., 1834F Cale, C. M., 1748W Calender, A., 1293T Caleshu, C., 1601T Calhoun, A., 3088F Calibi, M., 322 Caliebe, A., 1943F Calik, M., 2396F, 2412W Calkins, M. E., 2514W, 2546F Call, W., 2328W Callahan, L. F., 2047T Callan, C., 597F Callens, T., 1139F Callewaert, B., 128, 129* Calley, J. N., 1235F Callier, P., 2716W, 2729T, 2770W, 2792T Callier, S., 241 Caluseriu, O., 3173W* Calvas, P., 390, 2957T Calverley, P. M. A., 2249F Calvert, D., 3449T Calvo, S., 1859F Calvo, S. E., 326 Calzada-Wack, J., 2922F Camarena, V., 794W Camargo, L. M., 1343W Camargo, L. M. A., 2352W Camarillo, C., 2495F Camarillo, D. D. A., 3063W Cambell, C., 3397W Cambien, F., 3453T Cambon-Thomsen, A., 1811W, 1848W Cambridge, E., 2701W Camerini-Otero, R. D., 417F, 592W Cameron, R., 2984T Camilleri, E., 1042T Camm, A. J., 2699T Camminady, A., 2928F Camp, N., 1001F Camp, N. J., 1441F Campbell, C., 1185W, 1309F, 3345T* Campbell, C. A., 2301W* Campbell, C. D., 14, 278* Campbell, F., 630T Campbell, H., 1383T, 1481W, 2072F, 2366F Campbell, I. G., 27, 1224W Campbell, I. M., 229*, 430W Campbell, K. P., 2812W Campbell, M., 2043W Campbell, M. R., 257 Campbell, M. T., 1683T Campbell, N. G., 268 Campbell, S., 2072F Campeau, P., 127, 165, 2864T*, 2934F, 3209W Camper, S. A., 1878W Campion, D., 345, 3538W Campos, B., 2627F, 2814F Campos, M. M., 2183F Campos Valenzuela, J. A., 1236W Camps, C., 509F Campuzano, V., 3084F Canales, C. P., 410, 2662W*, 2837T Canapicchi, R., 3050F Cancel-Tassin, G., 28, 1001F CANDELA Consortium, 3327T Candille, S. I., 581F, 3318T, 3383W* Canfield, T., 255 Canfield, V., 309 Canfield, V. A., 3264T*, 3267T Cangul, H., 1708T Canham, N., 80 Canick, J. A., 3016T Canino, G., 3449T Canizales, S., 3327T Cann, G., 1167W* Cann, H. M., 371, 3361F, 3411W Cannon-Albright, L., 28, 1001F, 1149W, 1214F, 1328W* Canson, D. M., 707F Cantor, E., 3517T, 3715F Cantor, R., 2262W Cantor, R. M., 2056T, 2222F, 2256W, 2415W, 2551T, 2658W Cantsilieris, S., 1911W* Cantú, C., 872T Cantwell, L. B., 342, 343 Canty, A. J., 2109W Cao, A., 113 Cao, D., 159, 2617T Cao, H., 3649F Cao, L., 2672T*, 2837T Cao, M., 92*, 1776W Cao, Q.-Y., 1613T* Cao, X., 3317W Cao, Y., 1772W Capalbo, A., 2777T Capelo, L. P., 852F Capo-Chichi, J.-M., 2692W*, 2790F Capon, F., 154, 1927T Caporaso, N. E., 30, 1154F Capra, R., 2095T Capra, V., 1910F Capredon, M., 3260W*, 3341W Capron, C., 2716W Caputo, S., 1062W, 1212W Caraballo, L., 2043W Carabalona, A., 889W, 2674W* Caracciolo, M., 2766F, 2774T Caramins, M., 2934F Carbajo, R., 682T Cardena, M. M. S. G., 1629T Cardenas, R., 1141T Cárdenas-Cardos, R., 1131W Cardentey, Y., 3706W Cardin, N., 1250F Cardinale, C., 2229W, 2592W Cardinale, C. J., 1997F*, 2252F CARDIoGRAM Consortium, ADIPOGen Consortium., 1595T CARDIoGRAMplusC4D Consortium, 115 Cardon, L. R., 641T, 649T Cardoso, C., 889W, 2674W Cardoso, M. T. O., 1880F Cardozo, G. P., 776W CARe Analysis Core, 350 Carels, C., 3159W Carey, A., 689F Carey, J., 290, 3088F* Carey, J. C., 3076F Carey, J. P., 2301W Carey, V., 536W Caria, C. A., 2001W Carim, S., 2852T Carless, M., 1912T, 2061W Carless, M. A., 1406W, 2589W, 2651F, 3434T* Carling, T., 1241F Carlins, E., 2219F Carlo, S., 659F Carlson, C., 530W, 1925F, 2098T, 2337W Carlson, C. S., 1408F, 1437T, 2042F Carlson, E., 603T Carlsson, G., 3618W Carlsson, J., 582W Carlsson, L. M., 1271F Carlsson, L. M. S., 427F Carlus, J., 1950W Carmack, C., 399 Carmi, S., 17, 3346F* Carmichael, S. L., 1352W*, 1885T Carmignac, V., 2716W, 2770W Carmona-Mora, P., 410, 2672T, 2796F*, 2837T Carneiro, M., 288 Carnevale, A., 956T, 1141T Carney, R. M., 2583W, 2637W Caron, F. M., 3117W Caron, M., 3439T Caron, O., 1212W Carosso, G., 2786T Carotenuto, G., 3492T Carpenter, C., 651T Carpenter, K., 166 Carpenter, M., 186 Carpentier, S., 54 Carpintero-Ramirez, G., 2219F Carpten, J., 28, 1001F Carpten, J. D., 1214F, 1240T Carr, A., 132 Carr, J., 1706T SPEAKER AND AUTHOR INDEX *Presenting Author

346 344 SPEAKER AND AUTHOR INDEX Carr, J. J., 1648T, 1661T, 1913F, 2275T Carraro, D., 1151F Carrasco, M., 2430W Carrato, A., 1091F Carrell, D. T., 2982T Carrera, C., 1053W Carrero-Gonzalez, I., 3363T Carrillo, O., 2543F Carrillo, T., 2296T Carrillo-Carrasco, N., 711F, 1702T Carrington, B., 1983W Carrington, M., 2217W Carroll, C. J., 327* Carroll, J., 3212F Carroll, J. C., 142, 149, 150, 1827W, 1852F* Carroll, P., 3211W Carroll, R., 3622W Carsola, F. G., 2706F Carson, A. R., 1239W* Carson, D. A., 1051T Carson, J. L., 2851W Carta, E., 2752W Carta, L., 81, 767W*, 1698T Cartault, F., 522W, 915W Cartaxo, C., 2609F Carter, C. S., 404* Carter, E., 826F*, 864T, 3128F Carter, H., 2180F Carter, M., 198 Carter, M. T., 3086F* Carter, N., 101, 291, 364 Carter, T., 3326W Cartier, N., Session 23 Carty, C., 1608T Carty, C. L., 1925F*, 2042F Caruccio, N., 3668W, 3721F Carulli, J. P., 2561F* Caruso, D., 3026T Carvajal-Carmona, L., 1072T* Carvalho, A., 2814F Carvalho, C., 2955F Carvalho, C. M. B., 61, 337*, 428W, 485F Carvalho, D. R., 2596T Carvalho, E., 2043W Carvalho, E. D. F., 2232W, 3152F* Carvalho, E. F., 883W Carvalho, F., 2982T, 3122F Carvalho, K. M., 883W Carvalho, M. F., 883W* Carvalho, M. R. S., 2434T* Carvil, G. L., 10 Carvill, G., 2890W, 2897T* Casadei, S., 26, 1089W*, 1226F, 1228T Casadio, C., 1153T Casalone, E., 1153T Casals, F., 31, 3268F Casals, T., 1768W Casanova, J.-L., Session 80, 365 Casanova, J. L., 127, 202, 3599F Casavant, T. L., 60 Cascio, W., 1636T Casella, A., 1229F Casenave, P., 716T Casey, G., 1072T Casey, S., 2493W Casingal, C., 2466W Casingal, C. R., 2473T* Casper, R., 2869W Cass, C. E., 1297F Cassidy, A., 645T* Castaldi, P., 2057F, 2249F Castañon, M., 1048T Castelazo-Rodriguez, G., 1168T Castellani, C., 1731W, 2585F* Castelli, E. C., 3375T Castellotti, B., 2775F Castéra, L., 1205F Castiglia, L., 3114F Castilhos, R. M., 2424W, 2626T, 2642F* Castilla, E. E., 1936T Castillo-Fernandez, J. E., 1129T Castle, A., 794W Castle, D., 149, 150, 1827W Castor, A., 1023W Castrillo, J. L., 976T Castro, A. M., 182, 381, 1573F Castro, C., 1899W Castro, E. C., 1109F Castro, J. M., 1111T, 1127F, 1128W Castro, O., 928T Castro-Giner, F., 54 Castro-Perez, J. M., 1605T Casuga, I., 1209W, 3278W*, 3714W Caswell, J. L., 1576F* Caswell, R., 2704W, 2709F, 2935W Catalano, L. M., 66 Cataldo, J., 1965W Catalona, W., 28, 1001F Catalona, W. J., 1214F Catanese, J. J., 1603T Catania, M. V., 513F Cathey, S. S., 2826F Cauchin, E., 1204T Caughey, A. B., 3020T Cauley, J. A., 2145W Caulfield, M. J., 79 Caumes, R., 915W Causer, V., 2083T Causga, I., 1246T Causse, A., 2957T Caux-Moncoutier, V., 1205F Cavadino, A., 271 Cavalcanti, D. P., 3129W Cavalcanti, F., 2763F*, 2766F, 2774T, 2780T Cavalieri, S., 790W* Cavalla, P., 2095T Cavallari, L. H., 646T Cavalli, R., 790W Cavelier, L., 3728W Caywood, L., 3335W Cazier, J.-B., 2939T Cazier, J. B., 1640T CCFR Investigators, Colon Cancer Family Registry, National Cancer Institute, 1292W CCT Consortium, 388 Cebulla, C. M., 1197W Cecilia, K., 2722W Cederbaum, S., 165 Cederbaum, S. D., 680T Cedro-Tanda, A., 1168T* Cejas, D., 666T Celedón, J. C., 3449T Celikyapi, G., 2429F* Celikyapi Erdem, G., 2841F, 3475T Celis, A., 2363F Celli, B., 2249F Cen, W.-J., 3281W Cendes, F., 514W, 2233T, 2394W, 2876T Cengiz, F. B., 57 Center, J. C., 2176T Center for Inherited Disease Research, 3644W Centre for Genome Diagnostics, 1870F Cents, R., 2164T Cepok, S., 2086T Cereb, N., 3330T Cerecedo-Zapata, C., 3124F Cereda, C., 2775F Cerhan, J. R., 3564W Ceris, J., 1338T Cerise, J., 1407T Cermola, M., 2810T Cernach, M. C., 3045W Cerqueira, A., 1727W Cerroni, L., 1063T Cervantes, D., 3040F Cesaretti, J., 1309F Cesarini, D., 2505W Cespedes, C., 3069W Cesselli, D., 2809W Cetani, F., 2708T Ceyhan, O., 2811F, 3219W* Ceylaner, S., 3003T* Cha, D., 900T Cha, P., 2550W* Cha, P. C., 3513T Chaabouni Bouhamed, H., 2937F Chabchoub, E., 925W Chabrol, B., 2536T Chadha-Boreham, H., 684T Chadwick, B. P., 3515T Chae, C. H., 3180F Chae, H., 2715F* Chae, J., 877W, 3204F* Chae, Y. M., 846F Chafai Elalaoui, S., 3246F Chahine, K., 3321T, 3340F, 3365W Chahrour, M. H., 8, 2613W* Chaix, M., 1678T* Chakarova, C. F., 2183F Chaki, M., 406*, 2850F Chakrabarti, B., 3316F Chakraborty, P., 142, 150 Chakraborty, R., 1660T Chakravarti, A., 13, 121, 305, 308, 1639T, 2305T, 3316F Chaleshtori, M. A., 59 Challis, D., 3576W Challman, T. D., 2439W Chalmers, D., 1848W Chalon, M., 3246F Chalouhi, G., 72 Cham, B. W. M., 2889F Chamarthi, B., 50* Chambers, C., 3076F Chambers, J. C., 110*, 383, 3435T Chambers, S. K., 1087T Chambert, K., 284, 290, 1325W, 2487W, 2618F Chambliss, J., 1081T Chamling, X., 2671W* Chamma, M. T., 2655W Chammas, R., 1008W Champion, K., 3171W Champion, K. J., 2901F, 3684W Chan, A. T., 191 Chan, D., 638T Chan, E., 865W Chan, E. T., 3612W Chan, H., 1905W Chan, H.-W., 2285F Chan, I. H. Y., 1930T Chan, J., 2279F, 2280W Chan, L. L., 1375F Chan, P., 3522T Chan, R. B., 2547W Chan, W., 2928F Chan, W. Y., 3491T Chan, Y., 2364W* Chanda, P., 1403W*, 1579F Chandak, G. R., 3455T Chandirasekar, R., 1044W* Chandler, R. J., 664T, 669F* Chandna, P., 1701T Chandra, A., 1177T Chandran, V., 1952F, 2658W Chandrasekharappa, S., 3080F Chang, C., 893W, 1249T, 1830F, 1905W, 3727F Chang, C. C., 1380T Chang, C. J., 3457T Chang, D., 183 Chang, E. R., 498W*, 2111F Chang, G., 989F Chang, I., 629T Chang, J., 1027T Chang, K., 1249T, 3695F Chang, M. L., 2517W Chang, R., 2895F Chang, S., 985T, 1557T*, 1894T Chang, S.-C., 2285F Chang, T., 985T*, 1894T, 1905W, 1929W, 3026T Chang, W., 3695F Chang, W. H., 2768T Chang, X., 3415T, 3532W* Chang, Y.-T., 610T Chang-Claude, J., 206 *Presenting Author

347 SPEAKER AND AUTHOR INDEX 345 Chanloner, J., 2834T Chanock, S., 191, 205, 1012T, 1097F, 1119W, 1148F, 1154F, 1306F, 1413T, 1517W, 1626T, 2165F, 3683F Chanock, S. J., 30, 213, 1010F, 1150T, 1160F, 1218W, 1372F, 1390F, 2202W, 3325F Chan-Seng-Yue, M., 1093T Chantot-Bastaraud, S., 973W Chanudet, E., 303, 2755W Chan-Yeung, M., 1465F Chao, E. C., 2907F* Chaouch, M., 2808F, 2866W Chaoui, A., 2727F Chapman, B., 356 Chapman, B. A., 326 Chapman, K., 670T*, 2432F Chapman, N. H., 2406W* Chapman, S., 2157W Chapman, S. J., 1948T Charames, G. S., 3448T* Charbonnier, F., 32, 1222T CHARGE, GBPgen, and ICBP Investigators, 1637T CHARGE, GIANT, CARe, and African American Central Adiposity Consortia, 1896W CHARGE-BP and ICBP Consortia, 1639T CHARGE Consortium Protein Working Group, 111, 2073W CHARGE Exome Chip Genotyping Committee, 1445W CHARGE Gene Expression Working Group, 584W CHARGE Insulin-Like Growth Factor Working Group, 2080T CHARGE Neurology Working Group, 1592T CHARGE Nutrition Working Group, 51 CHARGE Subclinical Atherosclerosis Working Group, 1599T Charland, S. L., 1714T Charles, A., 1262F Charles, C., 3242F Charles, P., 2770W Charoensawan, V., 2918T Charon, A., 3181W Chartterjee, N., 1012T Chase, J., 728T Chasman, D., 109, 2165F Chasman, D. I., 51, 609T, 2056T Chassaing, N., 124, 2957T* Chatelain, S. M., 926T, 1018T Chatterjee, K., 2701W Chatterjee, N., 1091F, 1306F*, 1372F, 1378F, 1413T Chattopadhyay, K., 1073F* Chattopadhyay, S., 1278W* Chatzisevastou-Loukidou, C., 84 Chaubey, A. D., 2826F Chaudru, V., 1158W Chauhan, M., 605T, 2516F Chauveau, C., 2945T* Chavez, H. O., 926T Chávez, M., 2365T* Chawla, L., 2967T Chawla, S., 865W, 2739F Chawner, S., 2405F Chayama, K., 396 Cheah, F., 1472W Chebaro, W., 2842W Chechi, T., 770W Chedin, F., 552W Chédin, F. L., 2633F Chee, M., 1684T Cheguri, S., 998F, 999W, 1159T Cheh, M. L., 1859F Chelin, C., 77 Chemaly, E. R., 1698T Chen, B., 242 Chen, C., 356, 989F, 1249T, 1390F, 2392T*, 2571W, 2606F, 3413W*, 3467T, 3582W Chen, C. A., 1781W Chen, C.-H., 2092T* Chen, C.-P., 797W Chen, D., 382 Chen, D. C., 1034F Chen, D. T., 260, 2622W Chen, E. S., 1132T, 3421T, 3503T Chen, F., 123, 1662T, 1688T, 2202W*, 3293W, 3566W Chen, G., 241, 242, 356, 1324F, 1460W, 1886F, 3533F* Chen, G. B., 1360F Chen, G. K., 2131T, 2202W, 3621F Chen, H., 169, 202, 1346W*, 1369F, 1543F, 1972T, 3317W, 3347W* Chen, H. Y., 2014T, 2575T Chen, J., 333, 2251T, 3534W* Chen, J. H., 1972T* Chen, J. L., 1054T* Chen, J. W., 3430T Chen, K., 511F, 989F Chen, K. C., 1586T Chen, L., 50, 1059W Chen, L.-S., 2535W* Chen, M., 189, 1201T*, 2419T, 3697F Chen, M.-R., 2285F Chen, N., 1095W, 2617T Chen, P., 399, 1929W*, 2461T, 3619F Chen, P. K., 1472W Chen, P. L., 2936T Chen, P.-W., 2970T Chen, Q., 2921T, 3026T Chen., R., 1505W Chen, R., 385, 562W, 1462F, 1601T, 1779W, 2230T, 2322W*, 2910F Chen, S., 69, 116, 245, 411*, 785W, 1021T, 2259W*, 2819T, 3714W Chen, S, M., 1246T Chen, S.-H., 256, 3281W Chen, S.-M., 3278W Chen, S. M., 1209W Chen, T., 985T, 2444F, 3415T Chen, T.-J., 907W* Chen, W., 22, 178, 766W, 1110W, 1354F, 1971W, 1972T, 2135F, 2274W, 3442T, 3449T*, 3452T Chen, WM., 1662T Chen, W.-M., 1299T* Chen, W. M., 123 Chen, W. V., 1298W Chen, X., 1283W*, 2460W Chen, X.-L., 2969T*, 2970T Chen, Y., 80, 411, 722T, 795W, 834F, 989F, 1608T, 2180F*, 2854W, 2961F*, 3029T*, 3420T, 3489T* Chen, Y. D., 1661T Chen, Y. D. I., 2337W Chen, Y. I., 1916F, 2153F Chen, Y.-T., 2092T Chen, Y. T., 2858T Chen, Z., 140*, 1086W, 1108T, 1772W, 3666W Chenevix-Trench, G., 206, 207, 208, 209, 210*, 1150T, 1492F, 2323T Cheng, A., 1249T Cheng, B., 2617T Cheng, C., 442W Cheng, C.-H., 2052W Cheng, C. Y., 429F, 2094W* Cheng, D., 830F, 1108T Cheng, E., 940T Cheng, G., 1930T, 2066F, 2932W* Cheng, H., 511F, 1660T, 2159F Cheng, I., 1608T, 1925F, 2042F Cheng, J., 1779W, 2868F, 3007T Cheng, K., 309, 1133F Cheng, K. C., 3264T, 3267T Cheng, M., 2571W*, 2606F Cheng, R., 1369F, 2093F*, 2208W Cheng, S., 793W*, 1677T Cheng, Y., 2421W, 2490W* Cheng, Y.-W., 3090F* Cheng, Z., 14 Chenichene, S., 3117W Chenier, S., 1872F, 1873F, 3106F* Chennagiri, N., 3640W, 3680W Cheon, C. K., 964T, 3205W* Cheong, H. I., 3223W Cheong, S. Y., 2069F, 2381F, 2544W Cherbal, F., 1268F* Chernos, J., 910T Cherny, S., 1822F Cherny, S. S., 1930T, 2066F*, 2494T, 2932W Cherry, J. M., 3612W Cherukuri, P., 359, 1515T, 2610W*, 3543F Chesi, G., 2810T Chesko, K. L., 3027T Chesnik, M., 1269W Chessa, L., 760W* Chettiar, S. S., 2731W Chettrit, J., 1204T Cheung, C. Y. K., 1541W* Cheung, G., 429F Cheung, H., 1221W Cheung, L., 336 Cheung, S., 893W Cheung, S. W., 13, 229, 430W, 432W, 433F, 898T, 952T, 2395T Cheung, V., 253, 535F, 544W Cheung, V. G., 257, 370*, 500W, 1506T Cheverud, J. M., 272, 2413T Chevessier, F., 328 Chevillard, C., 1593T* Chew, E. G. Y., 3047W Chew, E. Y., 2183F Chew, S., 1216T Chhabra, D., 2166W* Chhibber, A., 2258F* Chi, A., 3691F Chi, E. C., 3621F* Chi, H., 2285F* Chi, J., 2985T Chiabai, M. A., 1202F* Chiaie, B., 298 Chiang, C. W. K., 3282T* Chiang, J., 2910F, 3130F Chiang, K. M., 3430T* Chiang, T., 1322W, 1531F, 2580W, 2953W Chiano, M., 630T* Chiappini, E., 3114F Chiavacci, R., 2252F, 2514W, 2872W Chiavacci, R. M., 812F, 1997F, 2121W, 2546F Chiba-Falek, O., 2465F* Chibnik, L. A., 2488T Chibnik, L. B., 2250W, 3417T, 3450T* Chibnik, L. E., 380 Chicka, M. C., 3145W Chidester, A. M., 2329T Chien, J., 1238F, 3451T Chien, L., 629T* Chien, Y. H., 683F, 706T Chiesa, J., 1212W Chikh, A., 1268F Child, A., 1584T Child, A. H., 1675T Chiliza, B., 644T Chin, E. L. H., 1758W Chin, J., 3724W China Atherosclerosis Genetics Consortium, 116 SPEAKER AND AUTHOR INDEX *Presenting Author

348 346 SPEAKER AND AUTHOR INDEX Chinault, C., 330 Chines, P. S., 46 Ching, B., 1146W, 1195T Chini, V., 2728W* Chinnery, P. F., 751F, 2996T Chiò, A., 2611T Chiou, M., 655T Chipendo, P. I., 528W Chipps, B., 3238F Chiripal, S., 1216T Chisholm, R., 3622W Chisholm, R. L., 618T, 1312F Chissoe, S., 1686T Chissoe, S. L., 641T, 649T Chitale, D. A., 1250F Chitayat, D., 214, 320, 720T, 1738W, 3013T, 3075W, 3156F, 3186F, 3196F* Chitipiralla, S., 3625F Chiu, C. L., 1705T* Chiu, E., 767W, 1190F, 1698T Chiu, K., 1249T Chiu, N.-C., 2285F Chiyo, T., 799W Cho, B., 1243T, 2715F Cho, C., 3145W Cho, H.-J., 964T* Cho, I., 2518T Cho, J., 17, 189, 2204F Cho, J. H., Session 80, 1320T, 1381F, 2045F, 2319W Cho, M., 2057F Cho, M. H., 2249F, 2346W* Cho, M. K., Session 79, 1804F, 1844F Cho, S., 1384F, 2200T, 2518T Cho, T., 933W Cho, Y. H., 739F* Choate, K. A., 2915T Chodirker, B., 3127W Chodosh, J., 529F, 2188T Choh, A. C., 2146T Choi, B., 2723T Choi, D.-S., 2516F Choi, H. J., 2053T Choi, J., 877W, 1657T, 2828T, 3204F Choi, J. R., 863W Choi, J. Y., 3178F Choi, K., 260, 2622W, 2849T, 3008T Choi, M., 1241F, 2779W Choi, O.-W., 2262W Choi, S., 269, 1385W, 2778F Choi, S.-H., 3227W Choi, T., 1341T Choi, Y., 581F, 1504F* Chokdeemeeboon, C., 2006F Chokkalingam, A., 1924T, 2268W Chong, H. K., 3535F* Chong, J. X., 278, 3398T* Chong, K., 2971T* Chong, S., 2148W Chong, S. S., 1472W Chong, T., 1093T Choong, C., 1262F Choong, D. Y. H., 1224W Choppa, P., 1251W Chopra, R., 1701T Choquet, H., 2269T* Choquet, K., 2234F, 2797W Chorich, L., 2984T Chou, C., 516W, 2926W Chou, J. Y., 2712F Chou, W., 1249T Chouchane, L., 2933T, 3399W Choudhri, H., 509F* Choudhry, S., 1352W, 1885T* Chouery, E., 2692W Choufani, S., 3420T, 3489T Chow, C. Y., 2214W* Chow, E., 2428T, 2480F* Chow, J. F. C., 3000T Chow, W. H., 1012T Chowdhury, M. R., 918T Chowdhury, R., 253 Chowdhury, S., 1459F Chowdry, A., 483F, 1223F, 3617F Chowdry, A. B., 1620T*, 2149T Choy, R., 2868F Chrast, J., 506W Chretien, F., 329 Christacos, N. C., 945W*, 953W Christensen, B. C., 3629F Christensen, E., 702T, 737F Christensen, K., 317*, 1323T, 1472W, 1564F, 1650T, 1921T, 2040W, 2244W, 2295W Christensen, K. D., 1781W Christiaans, I., 1616T Christian, M., 2402F Christian, S. L., 2389T Christiani, D. C., 2122T Christiano, A. M., 2182T Christiansen, L., 2244W, 2295W Christiansen, M., 2699T Christiansen, M. W., 584W, 1284T, 1503T Christiansen, P., 2707W Christianson, A., 1877F Christman, M. F., 632T Christodoulou, J., 166*, 2795T Christofolini, D., 899W Christofolini, D. M., 2534F, 3045W Christoforides, A., 1240T Chryst-Ladd, M., 1444F, 1594T Chrzanowska, K., 2755W Chu, A. Y., 51* Chu, C., 1894T, 2926W Chu, H., 1249T Chu, J., 536W*, 1468F Chu, S., 553F Chu, X., 1945T*, 2078F Chua, K. H., 1572T Chuang, D., 2742F Chuang, L., 2524T* Chuang, L.-M., 1955F Chuang, W., 516W Chuang, Y., 2606F* Chudin, E., 1684T Chudley, A. E., 2772F, 2800W Chun, K., 1227W* Chung, B., 3186F* Chung, B. H. Y., 3420T Chung, C., 1097F Chung, C. C., 213*, 1372F Chung, E. M. K., 809F Chung, H., 2117F Chung, J., 1008W, 3461T Chung, K., 2538W Chung, M., 530W Chung, N. G., 2715F Chung, P. H. Y., 1930T Chung, R. H., 2572T Chung, S. A., 306 Chung, S. H., 614T Chung, S. K., 262*, 2821W Chung, T. Y., 2118W Chung, W., 299, 330, 1600T, 1676T Chung, W. K., 1735W, 2439W Chung, Y., 3607F* Chunharas, C., 2749W Church, D., Session 77, 464W*, 3582W, 3625F Church, J., 362, 728T Churchhouse, C., 3360T, 3384T* Churchill, J. D., 3234F* Chutake, Y. K., 381* Chute, C., 3622W Chute, C. G., 618T, 1312F Ciampi, A., 1411F Ciana, G., 692T Ciato, D., 2708T Cibulková, P., 2865F Ciccone, C., 711F, 1702T, 3080F Cicek, M. S., 3451T* Cichon, S., 259, 420W, 1942T, 3550W Cicuttini, F. M., 2292W Ciechanowicz, A., 2102F Cieck, M., 139 Cieslak-Janzen, J., 251 CIHR Emerging Team in Genomics in Screening, 150, 1827W Cil, E., 1708T Cilio, R., 202 CIMBA, OCAC and BCAC, 210 Cine, N., 2058W Cingolani, P., 169, 176, 1513F, 1923W, 2308T, 2339F Cinque, P., 2561F Cintra, V., 2425T Cipriani, V., 2072F* Cirak, S., 2812W* Cirillo, L., 1269W Cirkel, G., 400 Cirnes, L., 1747W Cirulli, E. T., 2552F* Cisneros, B., 3124F, 3226F Citro, V., 3496T Cittadella, R., 2597F Civallero, G., 685F Civelek, M., 2256W Ciwangsangbu, C., 3317W Clabby, M., 1679T Claes, C., 59 Claes, G. R. F., 1711T Claes, K., 423F, 2791W Claes, P., 1850W, 2223W Clague, J., 1071W Clancy, R. R. C., 2443T Clare, S., 1098W Clarelli, F., 2095T* Clark, A., 183 Clark, A. G., 187, 357, 537F, 2029T, 2214W, 3269W, 3288T, 3306T Clark, A. P., 3587F Clark, E., 1904F Clark, K., 2664F Clark, L., 17, 442W, 1898F, 2377T, 2410T*, 2547W Clark, L. N., 845F Clark, R., 869W Clark, R. D., 2955F, 3191W Clark, S. L., 3442T, 3452T* Clark, T., 647T Clarke, A., 865W, 2099F Clarke, C., 534W Clarke, J., 419F, 3706W Clarke, L., 1543F, 3636W* Clarke, N. F., 295 Clarke, S., 2614T Clarkson, K., 3171W Claussnitzer, M., 3536W* Claustres, M., 2947W Clavering, E. K., 1803W Clawson, H., 3557F Clayton, A. C., 1145F Clayton, D. G., 2072F Clayton, E. W., 631T Clayton, N., 767W, 1698T Clayton, P. T., 167 Clayton, S., 101, 291, 364 CLEAR Investigators, 2047T Cleary, C., 3119W Cleary, S. P., 141 Clement, M. J., 3643F Clemmer, G., 623T Clendenning, M., 1067F Clerget-Darpoux, F., Session 8 Cleveland, J. L., 1162T Clevert, D.-A., 1483F, 2374T* Cleves, M. A., 1459F Cline, M., 3557F Clinton, C. M., 1799W*, 1836F, 1843W Cloutier, M., 3449T Clyde, M. M., 3267T Clynes, D., 418W Coa, D., 503F Coady, S., 2247W Coakley, D., 774W Coan, A. C., 514W, 2394W *Presenting Author

349 SPEAKER AND AUTHOR INDEX 347 Coarfa, C., 3433T* Coates, J., 784W Coates, J. R., 2817F Cobat, A., 1374T*, 2003F Cobb, B., 419F Cocco, E., 157 Cochran, B. J., 1445W Codd, V., 2035T, 2175W* Coe, B. P., 10, 14, 274 Coêlho, C. C., 1405F Coelho, J., 2502W Coelho, T., 1296T, 2736F Coeli-Lacchini, F. B., 479F Coenen, M. J. H., 243*, 306, 621T Coffee & Caffeine Genetics Consortium, 2096F Coffman, K., 904T Coghill, D., 645T Coghlan, G., 2772F Cogulu, O., 965W, 2719W, 3222F Çoǧulu, O., 3214F Cohen, I., 2931F Cohen, J., 2907F Cohen, J. S., 3065W Cohen, L., 3012T Cohen, M., 86 Cohen, N., 958T Cohen-Snuijf, P., 2925F Cohn, D., 3209W Cohn, D. H., 2740W, 2874F Cohn, G. M., 768W, 769W Cohn, R. D., 2677W Cohorts for Heart and Aging Research in Genetic Epidemiology, NHLBI Exome Sequencing Project, 1585T Coin, L., 159, 429F, 1432F, 2162F Coiteiro, D., 2085W Cok, J., 1119W Coker, M., 3214F Colak, R., 1551T* Col Araz, N., 1402F, 1935W*, 1938W Colas, C., 1170W Colby, C., 2516F Cole, R., 1269W Cole, S., 1280W Cole, S. A., 1406W Coleman, C., 2283W* Coleman, K., 1494T, 1679T* Colins, C., 491F Coll, M., 3069W Collaboration developed under Radiogenomics Consortium, 1309F Collado, A., 2326T Colleaux, L., 104, 202, 2808F Collee, J. M., 27 Collet, C., 2729T, 3154F, 3199W Collet, J. P., 756W Colley, A., 66 Collier, D. A., 2522F Collin, R., 2950W Collins, A., 3133W Collins, A. L., 2468F*, 3659F Collins, F., 324 Collins, F. A., 3129W Collins, F. S., Session 69, 46, 304 Collins, H., 1859F Collins, I., 1088F, 1199F Collins, J. A., 265 Collins, J. E., 37 Collins, R., 115, 970T Collombat, P., 2629T Colombo, M., 1895F Colon Cancer Family Registry, 141, 1067F, 1206W Colon Cancer Family Registry, COGENT Consortium, 1072T Colón-Semidey, A., 3449T Colosi, P., 2680W Colvin, C., 1021T Comas, D., 3345T, 3377W, 3387T Combe, J., 1119W Comeau, M. E., 1979F Comi, G., 624T Comi, G. C., 2095T Comi, G. P., 2775F Compton, J., 330 Compton, T., 2561F Comstock, D., 3007T Comuzzie, A., 1280W Comuzzie, A. G., 2309F, 3434T Concannon, P., 1299T Concas, M. P., 2062T Conceição, I. C., 2417F, 2502W* Conde, L., 1104W, 2055W*, 3623F Condino, F., 2597F Condreay, L., 630T Condroyer, C., 2638T Congia, M., 1516F Congiu, C., 86 Coniglio, G., 2095T Conklin, B., Session 78 Conklin, B. R., 1620T Conkright, M. D., 1162T Conley, B., 1068W Conley, Y. P., 1884W, 1963T* Conlin, L., 3040F, 3082F Conlon, P., 2082W Conneely, K. N., 66, 1422T, 2383T, 2420F, 2483F, 3480T Connolly, J. J., 2546F* Connolly, M., 131, 750T Connolly, M. C., 1769W Connolly, S., 70, 617T, 619T Conomos, M., 1424W Conrad, D. F., 560W, 2576F, 2982T* Conrad, P., 1059W Conroy, J., 2283W, 3428T Conroy, S. K., 2531F Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) Collaborators, 207, 208 Constantine, S., 1151F Constantino, J. N., 2439W, 2551T Constantino-Casas, F., 1105T Consugar, M., 2943F, 3653F Consugar, M. B., 1756W* Conta, J., 1842F Conte, I., 2810T, 2950W Conte, M. I., 505F* Conti, D. V., 642T, 1435F Conti, P., 2766F Contreras, A. V., 526W*, 3255T Contreras, S. A., 2495F CONVERGE Consortium, 355 Conway, K., 1566T Cook, D., 3537F* Cook, D. G., 1626T Cook, E., 13, 3494T Cook, E., Jr., 1520W Cook, E. H., 2577W Cook, J., 2897T Cook, J. R., 81, 767W, 815F, 1698T* Cook, M., 2826F Cook, M. B., 213 Cooke, J. N., 1879T, 2310W* Cooke, M. S., 1270T Cooke, T., 3362W Cooke, T. F., 293* Cooksley, R., 715F, 801W Cookson, M. R., 564W Cookson, W. O. C., 1361W Cookson, W. O. C. M., 2102F, 3466T, 3469T, 3486T Coon, H., 195, 2406W Coon, M. R., 2329T Cooney, K., 28*, 1001F Cooney, K. A., 1080W, 1214F Coonrod, E. M., 2720T* Coons, T. A., 1454W Coop, G., 282 Cooper, B. A., 1965W Cooper, C., 2292W Cooper, C. D. O., 219 Cooper, D. N., 939W Cooper, J., 453F, 3471T Cooper, M., 1936T Cooper, R., 1959W, 2063F Cooper, S., 1167W, 3697F COPDGene and ECLIPSE Investigators, 2057F COPDGene Investigators, 1425T COPDGene Investigators, NHLBI Exome Sequencing Project, 2346W Cope, H., 3, 1919F Copeland, S., 2974T Copigny, F., 1212W Copin, H., 3117W Copley, R., 2939T Coppieters, F., 539F*, 2927T Coppieters, W., 708T Coppola, D., 1061F Coppola, G., 2262W, 2639F, 2779W Coprerski, B., 2484W, 2485T*, 2540F Corach, D., 3364F, 3402T Coram, M., 1504F Corbin, I., 99* Corcoran, C. D., 3643F Corcoran, D., 586W Corda, E., 1158W Cordeiro, I., 131 Cordeiro, Q., 2533T Cordell, H. J., 153 Cordero, S., 1601T Cordier, M. P., 3129W Cordisco, M., 83 Cordoro, K., 2926W Córdova-Fletes, C., 1030T* Cordova-Solis, I. A., 1168T Core, L. J., 415F Coresh, J., 1932W Corey, M., 1731W Corioni, M., 3459T Corless, C., 1237T Cormand, B., 2578T Cormier, T., 3699F Cormier-Daire, V., 127, 324, 403, 915W, 3129W, 3167W, 3240F Cornejo, O., 3362W Cornejo, O. E., 293 Cornejo-Olivas, M., 2453F Cornelis, M., 2096F* Cornelissen, S., 1117T Cornell, M., 3610W Cornes, B., 1346W, 2041T Cornes, B. K., 269 Corneveaux, J. J., 2104T, 3215W Cornforth, M. N., 948T Corominas, R., 480W, 2660F* Corona-Rivera, A., 3188F Corrado, L., 2775F Corral, J., 2627F Corrales, A., 2296T Corre, T., 1281T, 2165F, 2366F Correa, H., 2385W Correa, P., 3388F Correia, C., 2261F*, 2417F, 2502W Correia e. Silva, A., 3318T Corrier, K., 2826F Corriveau, R., 853F, 2300F Cortes, A., 152* Cortes, C., 2628W* Cortes, E., 1049F, 1077W Cortes, E. P., 2547W Cortes, M., 467F*, 3039W* Cortese, R., 377* Cortessis, V., 213 Corti, S., 2775F Corvin, A., 2590T Corvol, H., 1322W, 2953W Corydon, T. J., 737F Cossette, P., 2306F, 2591F Cosso, M., 2062T Cost, G. J., 255 Costa, A., 1293T SPEAKER AND AUTHOR INDEX *Presenting Author

350 348 SPEAKER AND AUTHOR INDEX Costa, A. F., 514W Costa, A. L. F., 514W Costa, A. P. P., 2485T Costa, C., 572W, 1768W, 1796W* Costa, F. F., 426W, 2718F, 2751F Costa, F. T., 3122F Costa, H. A., 371, 3411W* Costa, J. L., 1747W* Costa, P., 922T* Costa, R., 1920W Costa, V. P., 2286W, 2291F Costain, G., 2575T Costantini, S., 1060T Costes, B., 1768W Côté, G., 1951T Cote, L., 442W Côté, S., 2994T* Cotsapas, C., 1366F* Cotten, C. M., 3 Cotton, A., 3514T*, 3734W Cottrell, C. E., 912T* Cottrell, J., 596W, 942T, 1238F Cotugno, G., 3256F Coubes, C., 936T, 3121W Couch, F., 208 Couch, F. J., 27, 207, 1150T*, 1219T Couch, R. B., 2189F Coucke, P., 59, 2225F Coucke, P. J., 128, 129, 833F, 1790W, 3137W Coude, F. X., 2431T, 2441F* Coughlin, C., 451F Coughlin, C. R., 2884W Coulet, F., 1170W Coulibaly, A., 3303T Coulson, R., 64 Coulter, M. E., 8, 2613W Coupry, I., 716T, 2674W Courcet, J.-B., 2792T* Court, F., 3499T Courtenay, M., 3335W Courtenay, M. D., 2028W*, 2318F Courtens, W., 2002T Courtney, M., 2629T Cousminer, D., 2097W* Cousminer, D. L., 2162F Coutant, S., 32, 345, 1222T, 3538W* Coutinho, P., 2820F Couto, A., 1432F Couture, C., 1947W Couve, A., 3129W Couvelard, A., 29 Covas, D. T., 1045T Coventry, A., 183 Cover, T., 3388F Cowan, C., 520W, 1988F Cowan, J., 3622W Cowling, B. S., 2681T Cox, A., 1706T Cox, A. J., 1648T*, 1661T Cox, C., 294 Cox, D. W., 2474F Cox, H., 1912T Cox, H. C., 2916F Cox, N., 368, 613T, 1480F Cox, N. J., 40, 424W, 623T, 1003T, 1495F, 2192F, 2196W, 2197T, 2333F, 3735F Cox, V., 869W, 3139W Coxson, H. O., 2249F Coyle, M., 893W Cozad, R. A., 66 Craft, J., 1021T Craig, B., 3644W, 3704W, 3716W, 3731F*, 3733F Craig, D. M., 1594T* Craig, D. W., 1240T*, 3215W Craig, J., 3484T Craig, J. E., 1785W Craigen, W., 163, 676T, 2942T Craigen, W. J., 667F*, 683F Craigie, S., 1827W Craigie, S. M., 149, 150 Crain, B., 1051T Crandall, B., 873W Crane, P., 2098T Crane, P. K., 342, 2488T Crapo, J., 2057F Crapo, J. D., 1425T, 2249F, 2346W Crary, F., 64 Crawford, B., 686T Crawford, D., 1377T, 1602T, 1608T, 1928F, 2037W, 2041T, 2098T Crawford, D. C., 226, 247, 618T, 647T, 1316W, 1447F, 1671T*, 1713T, 2042F, 2298W, 2401T Crawford, M., 3359W Crawford, M. H., 3344W Creadon-Swindell, G., 451F Cree, A. J., 2072F Creech, C. B., 247 Creech, M. L., 3588W Crenshaw, A., 290, 2098T Crenshaw, D., 2465F Crenshaw, D. G., 637T, 1382W Cresci, S., 2535W Crespo, J., 1977W Crew, K. D., 1255T Crider, K. S., 1304W*, 1310W Crim, C., 2249F Crisponi, L., 823F, 847F Cristino, L., 3492T Criswell, L., 3454T Criswell, L. A., 306, 1979F Crobu, F., 547F Crocco, E., 2637W Crocco, E. A., 2583W Croen, L., 463F Croen, L. A., 7, 2555F Croen, L. C., 2510F Cromer, M. K., 1241F* Crook, D. W., 1948T Crooks, L., 1518T Cropp, C., 1512T Cropp, C. D., 1302T* Crosbie, J., 2499W Crosby, J. R., 648T Crossley, B., 2260T Crosslin, D., 2098T* Crosslin, D. R., 1312F, 1447F Crossman, D. K., 2759T Croteau-Chonka, D. C., 108, 1427W, 1954T, 2090F, 2123F, 2147F, 2241W Crotti, L., 86 Crotwell, P. L., 3151W Crouch, D. J. M., 1329T, 3348T* Crouch, J., 148 Crout, R., 2142W, 2156F, 2178W Crout, R. J., 1464T, 1474F Crow, S., 605T, 2516F Crow, Y. J., 2452T Crowe, C., 456W Cruceanu, C., 2338T*, 2482T Cruchaga, C., 340, 342 Cruickshank, M., 3484T Cruts, M., 2815W Cruz, A. A., 2043W Cruz, L. A., 814F, 2414F Cruz, P., 1983W Cruz, P. R. S., 426W, 2751F* Cruz-Alcivar, R., 872T*, 3040F Cruz-Bautista, I., 2256W Crystal, R. G., 2933T, 3399W Cua, C. L., 2069F Cubells, J. F., 2383T, 2384F Cubillo, M. A., 926T Cubillo, M. A. L., 1018T Cucca, F., 113, 157, 177, 186, 276, 547F, 823F, 1391W, 1451W, 1516F, 2001W, 2198F, 2329T, 3377W, 3664W Cuccaro, M., 1786W, 1787W* Cuccaro, M. L., 9, 588W, 2445W, 2508W, 2572T, 2614T, 3390T Cucco, F., 2695W Cuccuru, G., 157 Cuckle, H., 274 Cuebas, D., 662T Cuellar, F. L., 926T, 1018T Cuellar-López, F., 3061W* Cuenca-Roldán, T., 1131W Cuenco, K., 1464T* Cuenco, K. T., 1474F, 2142W, 2156F Cuevas, O., 2365T Cuffe, S., 1108T Cui, C., 3317W Cui, H., 683F, 1087T, 1750W Cui, J., 1916F Cui, L., 2066F, 3123W* Cui, W., 722T Cui, W.-C., 1540F Cui, W.-Y., 2574W Cukier, H. N., 9*, 2445W, 2614T Cukrowska, B., 1330F Cukuranovic, R., 3481T Cule, E., 1285F* Cullen, M., 30, 1218W, 1517W, 3683F Cullinane, A. R., 709F, 2838F* Culminskaya, I., 1991F*, 2194T Culver, J. O., 1071W* Culver-Cochran, A. E., 3515T* Cumiskey, A. M., 2220W Cummings, A. C., 1489F*, 3335W Cummings, S. A., 109 Cummings, S. R., 1576F, 2375F Cumplido, J., 2296T Cunha, L. F., 2928F Cunha, P. S., 3107W, 3110F Cunha-Neto, E., 1593T Cunliffe, H. E., 1186T Cunningham, S., 166 Cunningham, F., 3732W Cunningham, G., 670T Cunningham, J., 139, 1267T Cunningham, J. M., 1238F, 3451T Cunningham, M., 126, 2762T Cunningham, M. L., 33, 813F, 2151W, 3070F* Cunninghame Graham, D. S., 306, 3382F Cuppen, E., 217, 400*, 423F, 2886F, 3608W Cuppens, H., 1450F Cupples, A., 350, 2210F Cupples, L. A., 111, 117, 170, 174, 317, 349, 1346W, 1585T, 1599T, 1954T, 2030F, 2052W, 2073W, 2123F, 2147F, 2337W Curbelo-Canabal, F., 3363T Cureklibatir, I., 1106F Curhan, G. C., 51 Currall, B. B., 862T* Curran, J., 176, 1280W, 1513F Curran, J. E., 533F, 1282F, 1406W, 1923W, 2061W, 2146T, 2308T, 2309F, 2339F* Curry, B., 971W Curry, C., 869W Curry, C. J., 79, 1070F Curry, J. A., 2838F Curtin, J. A., 2211W* Curtis, R., 3605F Curtis, R. E., 2152T Cusano, R., 113, 177, 547F, 823F, 3664W Cusanovich, D. A., 3251W Cuscó, I., 2711T Cushion, T. D., 262 Cushman, M., 1662T Cushman-Spock, L., 1820F Cusi, D., 845F, 2095T *Presenting Author

351 SPEAKER AND AUTHOR INDEX 349 Cusin, V., 56 Cussenot, O., 1001F, 1214F Cust, A. E., 212 Custovic, A., 2168F, 2211W Cutiongco-de la Paz, E. C., 2975T* Cutiongco-de la Paz, E. M., 1805W Cutler, D. J., 2069F, 2312F, 2576F, 3414W, 3628W Cutrer, F. M., 2362T Cutting, G., 1450F, 2953W Cutting, G. R., 78, 1322W, 1731W, 3448T Cutts, A., 133 Cvjetkovic, N., 1908W Cytrabaum, C., 2480F Cytrynbaum, C., 3420T Czape, K., 1787W Czeizel, E., 1936T Czerwinski, S. A., 2146T D Daavittila, I., 1892F Dabelea, D., 249 Daber, R., 3040F D Aco, K., 2871F* Dada, R., 2967T Dadaev, T., 205, 1011W, 1109F d Adamo, P., 2366F Dafou, D., 780W, 2896W, 2925F Daggett, H. T., 2750T Dagle, J., 3537F Dagle, J. M., 1344T D Agnano, D., 760W Dahan, K., 3098F* Dahdouli, M., 3576W Dahgam, S., 1970F* Dahl, A., 3224F Dahl, F., 3685F, 3709F, 3729F Dahl, M., 702T Dahl, N., 2920W Dahl, O., 991T Dahlin, A., 2166W Dahlman, K. B., 136 Dahoun, S., 67 Dai, A., 3596W Dai, C., 516W Dai, H., 1369F, 3649F Dai, J.-R., 3029T Dai, J. Y., 1408F Dai, L., 538W, 2529W Dai, Q., 3483T Dai, X., 1265F*, 1693T, 2415W Dai, Z., 953W* Daiger, S. P., 3234F Dal, G. M., 2924T D Alessio, V., 2916F Daley, D., 1465F* D Alfonso, S., 2095T, 2775F Dalgeish, R., 3610W Dalgleish, R., 3732W Dalla Bernardina, B., 2795T Dallapiccola, B., 105, 943W, 2777T Dallavale, F., 3121W Dallman, J. E., 297, 2445W* Dalton, G. C., 3324T Daly, A., 33, 45, 1676T Daly, K., 1971W Daly, M., 252, 322, 333, 352, 1213T, 1520W, 1725W Daly, M. J., 11, 280, 290, 295, 1523W, 2319W, 2560T, 2577W, 2618F Daly, S., 2852T Damaraju, S., 1297F D Amato, I., 2810T D Amato, M., 2319W, 3631F Dames, S., 3637F* Damiani, D., 2706F Damiani, M., 994T Damiano, J., 3228F Danashi, A., 2301W Dancey, J., 135, 1824F Danchin, N., 609T Danda, D., 1701T Danda, S., 1701T Dandara, C., 1073F Danesh, J., 115 Daneshjou, R., 646T* Dang, C., 2444F Dang, D., 759W Dang, D. A., 1998W, 1999T D Angelo, A., 808F D Angelo, C., 895W* Danhauser, K., 699F Daniels, M. L., 2851W Danila, M. I., 2047T Danjoh, I., 1277F* Danjou, F., 2001W D Anjou, G., 2900T Dankel, S. N., 3536W Dantas, V. G. L., 891W D Antoni, S., 513F Daoud, H., 2306F, 2342F, 2797W* D Aoust, L. N., 1489F, 3335W* Daoutidou, E., 3396T Daoutidou, K., 2044T Dara, A., 2255F Darabi, H., 1934F, 2055W Darabos, C., 188* Darbari, D., 1259F Darbro, B., 419F Darcan, S., 3206F Darcansoy Iseri, O., 3424T Dardis, A., 692T, 2809W* DaRe, J., 688T* Darling, T. N., 33 Darnell, J. C., 2587T Darnell, R. B., Session 24, 2587T Daroy, M., 2466W* Daroy, M. L. G., 2473T Darst, B. F., 1839W* Darvasi, A., 17, 264, 3346F, 3366T Darvish, D., 682T Das, K., 130, 315 Das, P., 3262F Das, S., 958T, 1432F*, 1737W, 1952F*, 2162F, 3090F Das, S. K., 2011T*, 2192F D Ascenzo, C., 1732W D Ascenzo, M., 3688W Dasgupta, A., 1363F Dasgupta, N., 161, 690T* Dasgupta, S., 1885T da Silva, V. P. M., 1946F Dasouki, M., 3054F Dasouki, M. J., 2894T* Dassopoulos, T., 1381F Dastani, Z., 1595T* Dastgir, J., 711F Datar, C., 700T Datar, CA., 2803W Date, H., 52 Datta, A., 3044F Datta, I., 1895F Datta, L. W., 1381F Dattani, M., 2701W Daub, A. C., 2643W Dauber, A., 131, 1960T Dauchel, H., 3538W Däumer, C., 1943F Dávalos, I. P., 3187W, 3188F Dávalos, N. O., 3187W*, 3188F Davatchi, F., 2150F Dave, B. J., 968T Davenport, E. R., 2031W* Davey Smith, G., 583F, 1318F, 1567F, 1583W, 1626T, 2081F, 2097W, 2164T, 2169W, 3455T David, A., 403, 1212W, 3066F David, D. M., 152 David, J., 950T David, V., 2893W*, 3170F Davidovic, L., 513F, 817F Davidovich, M., 3048F David-Padilla, C. M., 2975T Davidson, B., Session 23 Davidson, B. L., 2636F Davidson, C., 3684W* Davies, A. G., 640T Davies, C., 142, 493F Davies, G., 2366F, 3466T, 3486T Davies, J., 320, 1729W, 1872F, 1873F Davies, K. E., 2649W Davies, M., 153, 546W D Ávila, R., 2424W, 2626T Davila, S., 429F, 3047W Davis, B., 648T, 1346W Davis, E. C., 129 Davis, E. E., 3* Davis, J., 433F, 1869F, 3128F* Davis, L., 1901F Davis, L. K., 424W* Davis, M. F., 1489F, 2299T* Davis, O. S. P., 2164T Davis, P., 3484T Davis, R., 1337W, 3691F Davis, R. J., 393 Davis, R. W., 1112F Davis, S. D., 2851W Davis, T., 512W, 2701W, 2938W, 3517T Davis, T. B., 3702W, 3715F Davy, G., 1205F Daw, E. W., 1920W, 1921T Dawood, K., 1957T Dawsey, S. M., 1010F, 1076F Dawson, A. J., 954T* Dawson, B., 2542T, 2854W, 3209W Dawson, B. C., 795W Dawson, G., 2617T Dawson, L., 1066T Dawson, L. M., 1084T Dawson, S. J., 2302T Day, D., 153 Day, F., 108, 1954T, 2090F, 2123F, 2147F, 2241W Daya, M., 2007W, 3385F* Day-Williams, A. G., 169, 2561F Daza, R., 322 D-CarDia Collaboration, 271 DCCT/EDIC Research Group, 2109W DDD and UK10K Projects, 455F DDD Project, 101, 364 De, G., 1431T de Alexandre, R., 1151F* de Alexandre, R. B., 3055W De Almeida, S., 129 de Almeida M., F., 3123W Dean, E., 1152W* Dean, M., 1242W*, 2833W de Andrade, M., 618T, 1312F, 1375F*, 1447F, 1454W, 1497T, 2098T de Angelis, A., 808F* deangelis, M., 385 DeAngelis, M. M., 1305T*, 2183F Deans, T. A., 611T de Araujo, T. K., 1903T Deardorff, M., 2904F, 3038F, 3082F Deardorff, M. A., 2695W, 2958F Deary, I. J., 2072F, 2366F de Assis, T. M. R., 2813T* De Backer, J., 128, 2225F De Baere, E., 539F, 2832F, 2927T de Bakker, P. I. W., 87, 155, 609T, 1659T, 1934F, 2047T, 2210F de Becdelièvre, A., 572W, 1768W De Benedetto, A., 1900T de Blois, M.-C., 915W de Boer, A., 609T de Boer, C. M., 1122W, 1273T de Boer, E. N., 1619T DeBoever, C., 395 De Borja, R., 1093T, 1256F Debortoli, G., 1946F* de Bot, S. T., 160 Debrabant, B., 2244W de Broca, A., 3109W, 3117W SPEAKER AND AUTHOR INDEX *Presenting Author

352 350 SPEAKER AND AUTHOR INDEX de Brouwer, A., 3165W de Brouwer, A. P. M., 100, 102, 125, 160*, 672T Dec, E., 3144F*, 3213W Decaestecker, C., 3172F Decanini-Arcaute, H., 1030T de Carvalho, T., 691F de Castro, C., 895W De Castro, C. C. S., 1978T Decewicz, A., 1649T de Chadarévian1, J., 924T DeChene, E., 3219W Dechene, E., 2811F DeChene, E. T., 1769W Deciu, C., 3014T, 3016T Decker, B., 2219F Decker, P. A., 1351F de Coninck, T., 2820F de Coo, I., 708T de Coo, I. F. M., 2996T De Coo, R., 796W* DeCoteau, J. F., 3488T de Craen, A. J. M., 2035T de Denus, S., 3401W Dederich, D., 3656W, 3703F de Die, C. E., 2996T De Dios, J. K., 711F* Dedoussis, G., 106, 2044T, 2097W, 3396T* Dedoussis, G. V., 110 Deekajorndech, T., 2006F Deelchand, D., 2539T Deelder, A., 2107T Deelen, J., 2035T*, 2175W Deelman, E., 3558W Defebvre, L., 345 DeFelice, M., 322, 1725W Defoort-Delhemmes, S., 390 Degenhardt, F., 420W DeGiorgio, M., 3305W* Degner, J., 2 de Groot, N., 3279T Deguchi, K., 234 Dehghanpour, H., 2964F Dehner, L. P., 132 Dei, M., 177, 1516F, 2198F, 2329T Deidda, F., 157 Deignan, J., 315 Deignan, J. L., 130 Deininger, P., 524W De Iorio, M., 1285F Dei Rossi, A., 1198T De Jaegere, S., 539F De Jager, P., 624T, 1415W, 2488T De Jager, P. L., 380*, 528W, 2250W, 3417T, 3450T DeJesus-Hernandez, M., 2639F de Jong, D. J., 243 De Jong, K. H., 3523T de Jong, S., 2553W, 2661W* de Jong, V., 348 De Jonghe, P., 201, 2948T de Jongste, J. C., 2168F de Jongue, P., 2820F De Jorge, L., 2627F Deka, R., 1660T*, 2159F Dekker, J., 255 Dekker, J. M., 3455T Dekkers, J. C. M., 2717T de Klein, A., 834F de Klerk, E., 542W* de Koning, B., 708T de Koning-Tijssen, M. A. J., 200 de Kovel, C. G. F., 2886F Delabar, J., 84 De la Cruz Cabrera, O., 3409W De La Forest, A., 587F Delahaye, A., 973W, 2784F, 2957T De la Morena, M., 2949F Delaneau, O., 90*, 1484W Delaney, J., 1190F Delaney, J. T., 247 Delaney, K., 714T, 801W Delaney, S. M., 614T, 3472T del Angel, G., 288* De la Rosa-Alvarado, R., 1030T de la Torre, l., 3061W Delattre, V., 894T De La Vega, F., 1770W*, 3602W De La Vega, F. M., 3352F Del Bo, R., 2775F Delbono, E., 2154W del Campo, M., 3084F, 3208F del Castillo, I., 1 del Castillo, V., 875W, 956T, 976T* Del Castillo-Ruiz, V., 872T, 3040F de Leau, M., 1689T de Leeuw, N., 102, 955W*, 979W de Léséleuc, L., 2003F Delettre, C., 2679F* Deleyiannis, F. W. B., 1936T Delezoide, A.-L., 77 Delezoide, A. L., 3129W Delgado, P. A., 873W* Delgado, R., 694T Delgado, S., 2049W del Gaudio, D., 958T, 1737W, 3090F Del Giudice, E., 943W Deliard, S., 812F Deligniere, A., 202 de Ligt, J., 97*, 100, 102, 215, 459F, 1749W Delio, M., 1494T* DeLisi, L. E., 2402F Dell, S. S., 2851W Dell Angelica, E. C., 361 Della Santina, C. C., 2301W Dellefave-Castillo, L., 1614T, 1683T Dellinger, A., 531F Del Mistro, G., 3670W, 3717F Delobel, B., 299, 3172F Delon, I., 1257W De Lonlay, P., 329 de los Campos, G., 2201F Delot, E., 361 Deloukas, P., 44, 110, 115, 117, 383, 560W, 583F, 1440T, 3441T, 3453T* Delozier, C. D., 1070F* Delphin, N., 324, 390 Delpierre, C., 1817W Delprat, B., 2685F* del Rosario, M., 955W, 2018F* Del Solar, M., 81, 767W, 815F DeLuca, A. P., 60 DeLuca, D., 368 De Luca, V., 2408F* de Luca, V., 628T Deluce, J., 612T Delva, L., 2716W Del Zompo, M., 2342F Demachki, S., 1008W, 1132T, 3421T, 3503T de Malliard, T., 31, 2266T, 3260W, 3268F, 3341W De Marco, E. V., 2597F de Marco, L. A., 1902W De Mari, J., 685F Demartis, F., 2001W De Mazancourt, P., 890T Dembitzer, F. R., 3145W Dembour, G., 84 de Medeiros, P. F. V., 1217F Demeer, B., 3117W*, 3241W de Mello, M. P., 478W, 479F de Melo, M. B., 2291F Demenais, F., 211, 1158W, 1361W, 1461T, 1941W, 2079W, 2248T DeMeo, D., 2057F Demerath, E., 2165F Demerath, E. W., 2146T, 2336F Demeter, R., 2587T Demetriou, C., 3508T* Demetriou, M., 1493W Demichelis, F., 1100F Deming, S. L., 2202W Demirci, F. Y., 1647T, 1672T, 1673T, 2099F*, 2125T, 2521T, 3078F Demirhan, B., 3426T Demko, Z., 3018T Demko, Z. P., 73 Demmer, L., Session 28 Demmer, L. A., 66 Demmer, R., 1638T Demontis, D., 2369F Demos, M., 750T Dempsey, J., 2243F Dempsey, J. C., 2789T Dempsey Nunez, L., 673F* Dempster, E., 3509T de Munnik, S. A., 955W Demuth, S., 2810T den Dunnen, J. T., 542W, 574W, 2701W, 3586W, 3611F* Dene, H., 2675T Deng, A., 1987T Deng, F.-Y., 2172W Deng, H. W., 1473T, 2053T, 3534W Deng, H.-W., 1404T, 2172W Deng, L., 2433W Deng, T., 577F Deng, X., 379 Deng, Z., 798W Denguezli, M., 2744T den Hamer, B., 2840T den Hertog, J., 215 den Hoed, M., 2282F, 2359T* De Nicola, S., 3492T Dennis, J., 205, 206 Dennis, M., 12 Dennis, M. Y., 14, 3296W* Denny, J., 1602T, 3622W* Denny, J. C., 247, 618T, 631T, 1312F, 2299T Denny, J. D., 1345F Denoncourt, H., 1733W Denroche, R., 1227W, 1256F Dent, R., 2236T Dentici, M. L., 105 Denton, M., 2402F Deo, R., 1694T Deo, S. V. S., 1278W de Oliveira, P., 691F De Paepe, A., 128, 129, 423F, 833F, 1790W, 2225F, 3137W de Pagter, M., 400 DePalma, S. R., 1677T de Paor, A., 1812F* Depienne, C., 2770W Deplancke, B., 415F de Pontual, L., 3172F Depping, R., 204 De Preux Charles, A. S., 810F Deprez, M., 3181W DePristo, M. A., 41, 280, 288, 295 Dequeker, E., 1874F de Ravel, T., 539F Derbent, M., 3243W Derebery, M., 2184W de Reuver, H. J. E., 1734W de Reuver, R., 1749W De Rijk, P., 2948T Derijks, L. J. J., 243 Derkach, A., 1412W*, 1531F, 2580W Derks, E. M., 2526W Derks, R., 2925F Dermadi Bebek, D., 982T Dermitzakis, E., 368, 583F, 1440T Dermitzakis, E. T., 44, 401, 415F, 546W, 556W, 560W, 561F*, 567F, 582W, 3441T Deroma, L., 692T DeRoo, L., 1564F DeRosa, B. A., 588W* Derouet, C., 1062W Derrick, A., 262 Derrien, T., 506W Derry, C. P., 2741T Derse, A. R., 1837W DeRycke, M., 1214F *Presenting Author

353 SPEAKER AND AUTHOR INDEX 351 DeRycke, M. S., 986F*, 1206W, 3564W de Sablet, T., 3388F Desachy, G., 99, 1274F, 2555F* Desai, A. S., 2872W* Desai, K., 188 Desai, M., 911W Desai, S., 911W, 1146W Descamps, B., 2225F Descamps, V., 29, 1062W Descartes, M., 884T, 898T Deschamps, L., 29 Deschenes, M., 1848W DeScipio, C., 935W Desguerre, I., 202, 522W Deshommes, J., 259 Deshpande, C., 2896W, 2925F Deshpande, P., 3649F Désilets, V., 2790F Desir, J., 105 Desmaris, C., 530W De Smedt, M., 2757F Desmyter, L., 2002T Desnick, R., 678T, 2926W Desnick, R. J., 652T, 1777W De Sousa, M., 2982T Despande, S. N., 2382W Dessein, A., 1949F Dessein, H., 1949F DeStefano, A. L., 1592T Destouni, A., 2995T* Destree, A., 3216F, 3218F Destrée, A., 127, 131 Desudchit, T., 2749W Desvarieux, M., 1638T Detains, D., 56 de Tayrac, M., 2126F, 2893W, 3170F, 3328F*, 3408T Deugnier, Y., 2126F Deuschl, G., 200 Deutsch, S., 84 DeValk, J., 3287W Deveaux, S., 1212W Devereau, A., 3610W Devgan, V., 1263W De Vilder, E., 1790W* Devilee, P., 27, 1213T Devillers, M., 1607T Devine, M., 1267T Devine, O. J., 1867F Devlin, B., 553F, 1433W, 1520W, 2560T, 2577W, 2617T Devlin, J., 544W Devlin, J. J., 1603T, 1714T Devlin, R., 1636T Devoto, M., 2316W Devriendt, K., 124, 2926W De Vries, B., 100* de Vries, B. B. A., 97, 103, 125, 160, 955W de Vries, F. A. T., 980T* De Vries, J., 1848W de Vries, J. I., 3200F de Vries, P., 97 Dewal, N., 1231T* Dewan, A., 76, 3024T Dewar, K., 2262W, 2320T, 2343W Dewey, D., 3095W Dewey, F., 1601T* de Wind, N., Session 4 de Wissel, M. B., 2909T DeWitt, W., 1255T De Witte, A., 922T, 975W DeYoung, J., 2262W, 2661W De Zubicaray, G., 2054F D haene, B., 2927T Dhanoya, I., 2411F Dharamrup, S., 66 Dharmalingam, G., 2950W Dharuri, H., 228*, 2107T Dhaunsi, G. S., 2267F Dheedene, A., 59 Dhillon, B., 2072F Dhillon, K. K., 137* Dhole, T. N., 1177T Dhooge, I., 2104T Dhruva, A., 1965W D Hulst, C., 2527T Dhurandhar, N. V., 1406W Diallo, A., 3470T Diallo, O., 1670T, 2342F, 2558F Diamond, B., 306 Dianatpour, M., 1169F*, 2987T Dianzani, I., 1153T* Dias, A., 896T, 899W Dias, C. M., 1968W, 2017T Dias, F., 1593T Dias, L., 1778W Dias-Baptista, I. M. F., 2289W Diaw, L., 1259F Diaz, A., 2603F Diaz, A. R., 2572T Diaz, G., 774W Diaz, G. A., 168 Diaz, K., 406, 2850F Diaz-Horta, O., 57 Diaz-Martinez, R., 2019W Diaz-Matallana, M., 3363T Diaz-Sanchez, D., 1636T Diaz-Zabala, H. J., 1074W*, 3363T Dibbens, L., 2898F Dibbens, L. M., 2741T Di Bella, D., 2764W*, 2781F Di Berardini, F., 2104T Dib-Haij, S. D., 2448W Dibilio, V., 2763F Dichgans, M., 1313W Dick, D. M., 2022W, 2504F Dick, J., 1193F Dick, J. E., 1093T Dick, K. J., 3453T Dickel, D. E., 254* Dickens, C. M., 433F, 465F Dickerson, C., 250 Dickey, A. S., 2456F* Dickinson, K., 3038F Dickinson, K. A., 774W Dickinson, M., 834F, 839F Dicks, E., 139, 1084T Dickson, D. W., 346 Dickson, P., 785W* Dickson, P. I., 695F, 697F Dicskon, P., 734T Didelot, G., 62 Di Donato, N., 2595W, 3224F Diego, V. P., 1458T* Diehl, A., 531F Diehl, E. J., 378 Diekhans, M., 3557F Diekmann, Y., 2261F Diekstra, A., 160 Diener, S., 2693T*, 2922F Dierdorff, J., 419F Dierking, A., 1763W DietGen Consortium, 51 Dietrich, A., 2602T, 3465T Dietz, H., Session 81, 80, 81, 1609T Dietz, H. C., 79, 240 Di Fiore, P. P., 1 Di Gaetano, C., 1153T, 1712T Digilio, M. C., 943W, 3087W Di Gregorio, E., 550W Dijamco, C., 1782W Dilks, H., 1377T, 1602T, 1928F, 2037W Dilks, H. H., 1316W, 1671T Dill, E. M., 2557T Dillen, L., 2815W Dillman, A., 564W DiLullo, N., 2605T Dimalanta, E., 512W, 3517T Dimalanta, E. T., 3702W, 3715F Di Marco, C., 2604W DiMauro, S., 232 Dimitrova, N., 3316F Dimnik, L., 3141W, 3665F Dimos, J., 236 Dimova, I., 3481T Di Muzio, A., 1776W Dindinger, M., 1068W, 1244F Ding, B., 609T Ding, H. K., 1723W Ding, J., 154, 276*, 1391W, 1952F Ding, K., 1312F Ding, L., 1203W* Ding, Q., 3355F Ding, S., Session 78, 2444F Ding, T., 1010F, 1076F, 1218W Ding, Y., 314, 1735W, 1742W, 1757W*, 1761W, 3604W Ding, Z., 1440T Dingel, M., 1849W Dinges, D., 2592W Dingley, S., 2943F Dinh, H., 1757W, 2880F, 2934F Di Nicola, M., 936T Dinov, I. D., 3587F Dinur, T., 746T Dinwiddie, D. L., 366, 2793F*, 2894T Dion, P., 1670T, 1898F, 2306F Dion, P. A., 2342F, 2558F, 2591F Dionne, G., 2545T Dionne, R., 2221T, 3485T Dionne-Laporte, A., 1670T, 2342F, 2558F Dionne laporte, A., 2306F Di Palma, G., 2597F Di Paola, J., 1889F Di Paolo, G., 2547W Dipchand, A., 1704T Dipple, K. M., 2238W Di Rienzo, A., Session 6, 248, 2021F Di Rocco, C., 2235W Di Rocco, F., 763W, 2729T, 3154F di Rocco, M., 127 Di Sabato, M. L., 943W, 2777T Disanto, G., 2015F Diskin, S., 2203T Disteche, C. M., 379* DiStefano, J. K., 1953W* Ditro, C., 3150F Dittwald, P., 432W*, 485F Diver, W., 1012T Diver, W. R., 1091F, 1390F, 2202W Divers, J., 178, 1661T*, 1662T, 3371W Divon, M., 432W Dixit, J., 2293T Dixon, A. K., 33 Dixon, T., 239 Dizier, M.-H., 1361W, 1461T, 1941W*, 2079W, 2248T Djakovic, S., 508W Djimde, A., 2255F Djonov, V., 3481T Djouadi, F., 737F Do, C. B., 114, 179, 498W, 1017W, 2089T, 2100W, 2111F, 2115W, 2565W, 3386W* Do, R., 120*, 350, 1331W, 2199W, 2210F Doan, B., 1454W Dobbins, S., 1531F, 2580W Dobbs, M. B., 220, 2860W Dobkin, C., 2449T Dobra, A., 1500T Dobrovolny, R., 678T Dobrzeniecka, S., 2790F Dobson, J. M., 1105T Dobyns, W., 124 Dobyns, W. B., 2389T Docampo, E., 2326T Doccini, V., 881W, 3050F Doco-Fenzy, M., 3165W, 3241W Docquier, I., 1015T Dodd, A. F., 2576F Dodd, M., 1965W Dodge, M., 905W Dodurga, Y., 1025F, 1166F Doedens, M., 1193F Doelken, S. C., 2725W Doerfer, C., 2058W Doering, J., 591F, 865W SPEAKER AND AUTHOR INDEX *Presenting Author

354 352 SPEAKER AND AUTHOR INDEX Doerr, H.-G., 2356T Doerr, M., 1716W* Doerschner, K., 2924T Doevendans, P. A. F. M., 609T Dogan, A., 2251T Dogan Sigva, Z. O., 1164W, 1178F Dogini, D., 2653T* Dogini, D. B., 514W, 2609F Doheny, D., 678T* Doheny, K., 1447F, 2098T, 2114F, 2139W, 2170T, 2556W, 3644W, 3704W, 3733F Doheny, K. F., 46, 123, 1448W, 1452T, 3716W, 3731F Doherty, D., 10, 2772F*, 2789T, 2890W Doherty, L., 3494T Doherty, M., 2292W Doherty, S., 2292W Dohrn, N., 2862F* Doi, H., 1290T, 2822T, 3136F Doksum, T., 2974T Doktor, T. K., 737F Dola, E. R., 2422T* Dolan, C. R., 1753W Dolan, D. F., 1878W Dolan, M. E., 614T, 1495F, 2333F, 3472T Dolan, S., 2974T Dolgado Bohorquez, E. E., 432W Dolgalev, I., 998F Dollfus, H., 390, 2887W* Dolmetsch, R., 2479T Domchek, S. M., 1003T Domingo, E., 133 Dominguez, J., 2466W Domínguez, J., 960T Dominguez, J. C., 2473T Dominguez-Aburto, J., 3125W Domínguez Ortiz, J., 956T* Dominiczak, A. F., 845F, 2072F Dommisch, H., 2058W Dompmartin, A., 83 Dompmartin, J. B., 1015T Donadi, E., 1593T Donadi, E. A., 3277F Donahue, L., 983F Donahue, S., 3210F Donald, A., 2537F Donaldson, P. T., 153 Doneda, D., 696T Dong, C., 1635T*, 1638T Dong, H., 3730W Dong, J., 2759T Dong, L., 824F, 830F Dong, S., 412W, 486W, 2605T*, 3520T, 3604W Dong, Z., 1182W Donis, K. C., 2424W, 2626T, 2642F Donkervoort, S., 3213W Donnai, D., Session 81, 127, 2852T Donnelly, L., 609T Donnelly, M., 3232F* Donnelly, P., 181, 285, 2157W, 2939T Donnelly, P. J., 1340W Donnelly, R., 1155W Donner, E., 3196F Donner, M., 86 Donneyong, M., 2145W Donovan, J., 1011W Donovan, J. L., 1148F Donsante, A., 235, 791W Donti, T., 661F*, 667F, 676T, 2942T Doody, R., 2489F, 2542T Dooley, C. M., 363 Dooley, K., 2069F Dorfman, R., 1731W Dörk, T., 1117T Dornelles, A. D., 696T Dornelles-Wawruk, H., 903W Doros, L., 132 Dörr, M., 275 Dorrani, N., 315 Dorsainville, D., 3004T Dorssers, L. C. J., 1122W Dorward, H., 709F Doshi, P., 1901F, 2284T Dos Santos, L., 1133F Dossari, H., 2743W Dott, B., 3073W Doty, A., 1061F Doty, C., 265 Doty, S., 826F Douaihy, B., 3349F* Doucet, T., 1229F Doudney, K., 967W*, 3440T Dougherty, B., 133, 503F Dougherty, M., 1861F* Douglas, G., 399 Douglas, J., 1211F Douglas, S., 198 Doulatov, S., 1193F Doumatey, A., 241, 1515T, 1886F* Doumbo, O., 2255F, 3303T Doummar, D., 2770W Dousset, V., 716T Douyard, J., 1729W Dovč drnovšek, T., 3381T Dovigi, E., 3672W Dowdy, E., 1636T Dowling, N. F., 1304W Downie, J., 2982T Downing, J. R., 31 Dowty, J. G., 141 Doxiadis, G., 449F Doyle, A. J., 79* Doyle, J., 80 Doyle, J. J., 79, 240 Doyle, LW., 3484T Doyle, M. A., 1224W Dozmorov, I., 1901F Dozmorov, M., 549F Draaken, M., 1005W Drabant, E., 2565W Drabant, E. M., 2100W* Drack, A. V., 2671W Dragomir, C., 2954T Dragosky, M., 773W Drake, W. M., 780W Drapeau, P., 1910F Draper, D., 711F Drayna, D., 1956W, 1958F Drechsel, O., 2940F, 3661F Drehman, B., 1826F Drenos, F., 122, 1606T Dresbach, A., 2063F Dressen, A., 347, 492W, 2603F Dreszer, T., 3557F Drévillon, L., 843F, 3157W, 3241W* Drew, C., 262 Drichel, D., 106 Drigalenko, E., 1406W Drigalenko, E. I., 1282F Driman, D. K., 1138T Driscoll, D., 65 Drnasin, K., 845F Drobnic, K., 3286F Drogemoller, B., 644T* Drohan, B., 2974T Droin, N., 2716W Droit, A., 1215W Drong, A., 3435T* Drongitis, D., 2629T Dror, A., 2914W Drory, V., 63 Drost, J., 3350W* Drouin, V., 124 Druker, H., 1055F* Drumm, M., 2953W Drumm, M. L., 1322W Drummond, J., 1257W Drunat, S., 3166F Drury, S., 1773W Drury, S. C., 1748W* Druschel, C. M., 2151W D Souza, D., 1093T Du, L., 2998T Du, Q. Y., 1723W Duan, J., 1282F, 2576F Duan, Q., 622T*, 1427W*, 2166W Duan, Y., 2910F Dubé, M., 1670T Dube, M.-P., 3401W Dubey, G. K., 588W Dubinsky, A. N., 508W* Dubois, B., 2086T Dubois, J., 2424W Dubois, S., 1951T Dubois d Enghien, C., 1205F Dubourg, C., 2893W, 3170F Dubowsky, A., 1785W Dubra, A., 3212F Dubrovsky, M., 3345T Ducci, F., 1597T Ducker, S., 153 Duclos, J., 1170W* Duda, P., 2561F Dudas, M., 3717F Dudding, T., 198, 3167W Dudek, S., 226, 1442W Dudekula, D. B., 1391W Dudley, J. T., 562W Dueker, N., 2614T* Dueker, N. D., 9, 2330F Duerr, R., 1942T Duerr, R. H., 1381F, 1466W, 2319W Duffin, K. C., 1952F Duffy, E., 1754W Dufke, A., 2595W, 3109W Dufour, S., 842F Duga, B., 3283F Dugan-Rocha, S., 3 Duggal, P., 1512T, 3393W, 3616W* Duggan, D., 1608T Duggirala, A., 3455T Duggirala, R., 176, 1280W, 1406W, 1513F, 1923W, 2061W, 2308T, 2339F Dugueperoux, I., 1728W Duijkers, L., 216 Duijts, L., 2168F Duker, A. L., 3150F Dulac, O., 202 Dulencin, A., 2467T Dullea, K., 3671F Dumaine, A., 259 Duman, D., 57 Dumanski, J. P., 434W Dumas, K., 501F, 1687T* Dumas, L., 433F* Dumaz, N., 29 Dumitrescu, L., 618T*, 1608T, 1671T Dumitrescu, L. C., 2298W Dumitrescu, M., 3005T, 3009T, 3067W* Dumitriu, A., 2227T* Dumonceaux, J., 2840T Dumont, B. L., 278 Dunaif, A., 2327F Dunaway, K. W., 2783T Duncan, E. L., 2053T Duncan, G., 222 Duncan, I., 2778F Duncan, J. S., 2741T Duncan, R. L., 2855T Duncan, S., 587F Duncavage, E., 3637F Duncombe, A., 390 Dungan, J., 3541F Dunham, I., 35 Dunivin, R., 3330T Dunlap, K., 1919F Dunlop, J., 1724W Dunlop, M., 1072T, 2072F, 2366F Dunn, L., 1965W Dunn, S. H., 1715T Dunn, T., 3710W Dunning, A., 208, 1011W, 1150T Dunning, A. M., 206, 209, 210 Duno, M., 702T Dunoe, M., 2765T Dunston, G., 1926W*, 2043W Dupé, V., 2893W Dupérée, A., 778W Dupius, L., 3100F Duplomb, L., 2716W*, 2770W DuPont, B. R., 2826F, 3052F *Presenting Author

355 SPEAKER AND AUTHOR INDEX 353 Dupont, J., 3165W Dupré, N., 1670T Dupuis, A., 2499W Dupuis, J., 269, 279, 1346W, 2337W Dupuis, L., 103, 1738W*, 3106F, 3183W Dupuis, S., 556W Duque, F., 2417F, 2502W Durakovic, Z., 1660T Durambure, C., 1090T Duran, K., 217, 400, 2886F Duran, P., 2705T Duran, R., 753T Durand, C., 841F Durand, E., 3386W Durand, E. Y., 179* Durán-González, J., 2363F Durán-McKinster, C., 872T, 3040F Durasi, M., 2450F Durbin, R., 44, 252, 546W, 1440T Durfee, T., 3671F Duriaux-Sail, G., 2937F Durie, P., 142, 2953W Durie, P. R., 1322W Durmaz, A., 965W Durmaz, B., 965W*, 3214F Durnall, J. C., 2816T Durr, A., 2539T, 2638T Dursun, A., 702T Durtschi, J., 2720T, 2951T, 3638W* Durtschi, J. D., 3643F Duru, N., 984W Dutch National Board for DNA-Diagnostics (LOD), 3650W Dutil, J., 996W, 1074W, 1987T, 3360T, 3380W Dutra, A. R., 3045W Dutra, R., 896T, 899W Dutra-Clarke, A., 1159T Duttgupta, R., 1142F* Duzenli, S., 2956W* Duzkale, N., 1326T* Dvorakova, L., 570W Dvoskin, R., 1829W Dweik, D., 2919F Dworzynski, P., 2241W Dyack, S., 167, 2480F, 3143W* Dyer, T., 1280W, 1513F Dyer, T. D., 176, 533F, 1406W, 1923W, 2061W, 2146T, 2308T, 2309F, 2339F Dykxhoorn, D., 489F Dykxhoorn, D. M., 588W Dyment, D. A., 1775W, 2794W* Dzakula, Z., 3014T Dzenkeviciute, V., 920T Dzidic, N., 3054F E EAGLE, 2164T Eapen, V., 8 Earl, D., 466W, 2740W Earl, J., 1091F Early Growth Genetics Consortium, 2067W, 2097W, 2162F, 3028T East, C. E., 2309F Easton, D., 28, 205, 208, 1001F, 1011W, 1214F Easton, D. F., 206, 207, 209, 210, 1148F, 1150T Eaton, A., 1841W Eaton, M. L., 380, 3417T, 3450T Eaton, W., 2541W Eaves, E., 3512T Eaves, L. J., 2277W Ebata, R., 1631T Ebbert, A., 2444F Ebel, C., 328 Eberhardt, J., 2058W Eberle, M. A., 596W, 942T* Eberlein, K., 2557T Ebers, G., 2015F Ebert, P. J., 1235F Ebisawa, M., 2294F Ebrahim, S., 885W*, 1626T, 3455T Ebrahimi, A., 1175F, 1615T, 1961F, 1962W, 2964F, 3197W* Ebran, J. M., 1790W Eccles, D., 1912T Eccles, M. R., 3440T Ece, A., 2719W Eck, S., 2922F Eck, S. H., 2557T, 3539F* Eckart, N., 2461T, 2486F* Eckert, G., 1969T Eckhold, J., 204, 2958F Eckl, K., 2869W* Ecklund, A., 2103W Eckman, P., 1665T ECLIPSE and COPDGene Coauthors, 2249F Edberg, J. C., 1979F Eddy, E., 1953W Edelman, E., 2974T* Edelmann, L., 652T, 958T, 1777W, 3488T, 3724W Edelmann, S., 2663T Edelson, C., 390 Edelson, V., 2974T Edenberg, H., 2598W Edgin, J., 2529W Edgren, H., 2888T Edie, S., 310* Edsall, C., 2611T Eduardo Arroyo-Pardo, E., 3364F Edwards, A., 105 Edwards, B., 2649W Edwards, D., 2145W Edwards, D. C., 3735F* Edwards, K., 1848W, 2538W Edwards, L. D., 2249F Edwards, R., 2581T Edwards, R. P., 993W Edwards, S., 209, 2006F Edwards, S. L., 210 Edwards, T., 2063F, 2145W, 3299W* Edwards, T. L., 2131T Edwards, Y., 2603F Eeles, R., 28, 205*, 1001F, 1011W, 1109F, 1214F Eeles, R. A., 1148F EGEA Collaborative Group, 1361W, 2079W, 2248T Egeland, T., 1547W Egertson, J., 10 Eggens, V. R. C., 197* Egger, G., 2570F, 2575T Eggermann, T., 3111W Eggert, P., 3587F Eggert, S. L., 2056T* Ehm, M., 294, 1491T, 1686T Ehm, M. G., 476W, 641T, 649T*, 3282T, 3406T Ehmke, B., 2058W Ehret, G., 1387F Ehret, G. B., 1639T Ehret, J. K., 3109W Ehrich, M., 3014T, 3016T Ehrlich, M. E., 2801T Ehrmann, D., 249 Eicher, J. D., 1973F*, 2010W Eichler, E., 93, 98 Eichler, E. E., 10, 12, 14, 74, 94, 274, 278, 375, 2491T, 3296W Eickholz, P., 2058W Eid, J., 477F Eidem, H., 316 Eike, M. C., 3614W* Eikelboom, J., 617T Eiklid, K., 921W Eilbeck, K., 3637F Eilertson, K., 3361F Einarsdottir, E., 2023T, 2177F* Eini, R., 1122W Eisenbarth, G., 1330F, 3454T Eisenberg, D. T. A., 2036F* Eisinger, F., 1212W Eisman, J. A., 2176T Eisner, F., 1115F Eisner, G., 245 Ek, J., 2765T* Ek, W. E., 2190W* Ekelund, E., 1939T Ekelund, U., 2359T Ekhilevitch, N., 3202F Ekici, A., 2557T, 3153W* Ekici, A. B., 2160W, 2356T, 2595W, 2666T Eklund, L., 1611T Eklund, N., 2366F Ekong, R., 3322F Ekstrom, C., 1353T* El Agwany, A., 930T Elalaoui, S., 2937F Elamin, T., 3149W Elangovan, R., 771W Elazar, Z., 53 Elbaik, L., 3149W Elbaz, R., 1922F Elbers, C., 283, 1606T, 3303T Elboim, C., 1965W Elboudwarej, E., 1924T, 3454T* El Chehadeh, S., 2716W El Chehadeh-Djebbar, S., 2729T* Elcioglu, N., 219 Eldar-Geva, T., 2991T, 2993T Elder, J. T., 154, 1952F Eldin, K., 661F Elemento, O., 376 Elghezal, H., 944T Elhaik, E., 2305T*, 3329W, 3377W El Hajj, N., 3266W El-Hattab, A., 163 El Hokayem, J., 3129W* Elhosary, P. C., 266 Elias, A. F., 658T* Elias, E., 238* Eliasson, S. C., 805F Elie, C., 72 Eliou, M., 2905W El-Kannishy, G., 1922F* Elkhartoufi, N., 3240F, 3246F Elkin, E., 1841W Ellard, S., 2704W, 2709F*, 2935W, 3494T Elling, U., 110 Ellinghaus, D., 1942T*, 2103W, 2314T, 3583F Ellinghaus, E., 154, 2101T* Ellingson, M. S., 1058F Ellingwood, S., 886T Ellinor, P. T., 1585T Ellinwood, N. M., 695F, 785W, 2717T* Elliott, A., 3681F Elliott, A. M., 3535F Elliott, H. R., 3455T* Elliott, K. S., 1948T* Elliott, P., 3435T Elliott, S., 727F Ellis, J., 2337W, 2525F Ellis, M. K., 1948T Ellison, J., 66 Ellonen, P., 327, 897W, 2888T Ellsworth, D. L., 1649T* Ellsworth, R. E., 1002W, 1780W Elmslie, F. V., 2896W El Saafi, S., 1949F Elsea, S. H., 103, 1717W El-Shanti, H., 2713W*, 2728W, 2899W, 3140F ElShanti, H., 3526W ElSharawy, A., 515F*, 2368T, 3224F Elshimali, Y., 1034F Elsner, G. L., 871W Elstein, D., 746T*, 788W Elston, R. C., Session 8 Elton, L., 432W El Waly, B., 2457W* Elyaman, D., 2411F Emanuael, B., 1494T Emanuel, B., 65, 3038F Emberly, E., 3734W SPEAKER AND AUTHOR INDEX *Presenting Author

356 354 SPEAKER AND AUTHOR INDEX emerge Network, 618T Emerging Team in Genomics in Screening, 149 Emerson, C. P., Jr., 2962W Emerson, J., 171 Emerson, R., 530W Emery, A. E., Session 68 Emes, R., 809F Emhoff, J., 3680W, 3700W Emilsson, V., 1436W Emiroglu, M., 1 Emond, M., 2346W Emond, M. J., 171* Emrick, L., 163* Emsley, R., 644T Encarnacion, M., 346 Encha-Razavi, F., 77, 403, 3240F ENCODE Project Consortium, 3291T Endele, S., 2595W Eng, C., 158, 898T, 1075T, 1144T, 1716W, 3363T Eng, C. M., 314, 1735W, 1742W*, 1757W, 1761W Eng, L., 1591T ENGAGE Consortium, 119, 1308T, 2076W, 2175W ENGAGE (European Network for Genetic and Genomic Epidemiology) Consortium, 190 Engelhardt, B., 372* Engelman, C., 1267T Engelman, C. D., 2020T* Engels, H., 2595W, 3109W Engle, E. C., 2928F Engle, J. L., 1016F* English, M. A., 824F Enjolras, O., 83 Enjorlas, A., 1015T Enneman, A., 109 Ennis, S., 2072F, 2283W, 3494T Enns, G. M., 744T Enomoto, K., 1795W, 2891T, 3091W* Enquobahrie, D., 584W, 1284T, 1503T Enriquez Lencinas, L., 2033F Entelis, N., 329 Enterline, D., 1919F EPIC Gastric Cancer Working Group, 987W Epigen-Brazil, 3562W Eppig, J. T., 2675T* Epping, E., 422W Eppsteiner, R. W., 60 Erasmus, C. E., 160 Erdem, G., 2852T Erdman, C. A., 2517W Erdman, L., 456W, 912T Erdmann, J., 115, 3453T Erez, A., 165*, 433F, 795W Ergul, E. A., 1746W, 1801W* Erhart, G., 3319F Erickson, E. A., 2442W* Erickson, R. L., 213 Erickson, R. P., 2752W, 2788W Erickson, S., 1459F* Eriksson, F., 434W Eriksson, J., 109, 252, 656T, 2059T, 2116T, 2134T, 2162F, 2350T Eriksson, J. G., 2110T, 2173T, 2366F Eriksson, M., 2427W Eriksson, N., 106, 114*, 498W, 617T, 619T*, 626T, 1017W, 1782W, 2087F, 2089T, 2100W, 2111F, 2115W, 2127W, 2149T, 2565W Eriksson, P., 1651T, 3685F, 3729F Erkan, D., 2330F Erkhembulgan, P., 3248F* Erlanger, B., 1229F Erlich, H. A., 3713F Erlich, Y., 333, 1797W*, 3711F Erm, T., 1140W Ernst, A., 2862F Ernst, C., 554W, 2482T, 2562W*, 3470T Ernst, F., 3701F Ernst, S., 1824F Ernster, M., 963W Erogullari, A., 204* Erraffi, K., 2899W Erte, I., 2138F Ertekin-Taner, N., 343 Erturk, B., 2719W Esbensen, A., 1847W Escamilla, M., 2495F Escande, F., 3172F Escano, C., 245 Escaramís, G., 2303F Eskenazi, B., 3458T Eskin, E., 39*, 180, 1337W, 1341T, 1386T, 1480F, 2262W, 3555F, 3598W, 3623F, 3639F, 3657F Esko, T., 108*, 119, 154, 584W, 1284T, 1308T, 1503T, 1792W, 2076W, 2137T, 2165F, 2241W, 2366F, 3353W Eslamizadeh, S., 1056W Esmaeeli Nieh, S., 2389T* Esmall, A., 3700W Esmer, M. C., 3119W Esparza Gordillo, J., 1942T, 2102F* Espay, A., 2538W ESP Blood Pressure Project Team, 1692T Espeseth, M., 1753W Espinosa, I., 1054T Espinosa-Parrilla, Y., 987W* Espinoza, K., 1658T, 2065T Esplin, E. D., 869W* Esplin, S., 1904F Esposito, C., 1060T Esposito, D., 3711F* Esposito, E., 505F Esposito, F., 624T, 2095T Esposito, T., 2916F* Essand, M., 434W Essioux, L., 242 Ester, A., 952T Esterberg, E., 1869F Estes, A., 2406W Esteves, L. M., 2288F* Estivill, X., 84, 567F, 582W, 2303F*, 2326T, 2940F Estour, B., 2278T Estrada, K., 109, 1334W, 2053T, 2169W, 3608W Estrada, S. C., 707F Etain, B., 259 Etchegary, H., 149, 150*, 1827W Etemadi, A., 1076F Eubanks, J., 3509T Eun, B., 908T Euro, L., 327 EUROBATS Consortium, 546W European Network for Genetic and Genomic Epidemiology Consortium, 2137T Euskirchen, G., 3361F Euskirchen, G. M., 3368W Evangelou, E., 109 Evans, D., 343, 1567F, 2537F Evans, D. M., 351, 560W, 1318F, 1528F, 1583W, 2081F, 2164T, 2169W Evans, D. S., 2145W, 2375F* Evans, D. W., 2439W Evans, J. P., 231 Evans, M. D., 1270T Evans, P., 3540W* Evans, T., 3517T Evans, T. C., 3715F Evenson, M., 912T, 1028F Everhart, S. L., 1781W* Eversley, C., 1777W Evgrafov, O., 2444F Evrony, G. D., 266 Evsyukova, I., 2454W Ewing, A. D., 466W*, 1229F Eyheramendy, S., 1336F* Eymard, B., 328 Eyre, D. R., 222, 2853F, 2854W Eyre, S., 2231F Eyries, M., 1170W Ezekowitz, M., 619T Ezekowitz, M. D., 617T Ezgu, F., 745F Ezzatizadeh, V., 761W F Faas, B. H. W., 955W Fabbri, H. C., 478W* Faber, C. G., 2448W Fabian, J., 969W Faccini, L., 1851F Facio, F. M., 316 Factor, S., 2538W Fadel, H., 2930T Fadista, J., 47*, 2187W Fagerholm, R., 1171T* Fagundes de Carvalho, E., 3364F, 3402T Fahiminiya, S., 706T Fähling, M., 522W Fahn, S., 442W Failla, P., 100 Fain, P., 3454T Fain, P. R., 1454W Fairfax, B. P., 373*, 563F Fairley, C., 3242F Faivre, L., 1293T, 2716W, 2729T, 2770W, 2792T, 3240F Fakhro, K. A., 2933T*, 3399W Falah, N., 3030T* Falcão, R. P., 1045T Falcao-Alencar, G., 1147T, 2243F Falconnet, E., 561F, 2937F Falik-Zaccai, T., 199* Falissard, B., 2545T Falk, M., 534W Falk, M. J., 330, 2943F*, 3653F Falk, R., 300 Fall, T., 108, 1624T*, 2358W Fallah, M. S., 3197W Fallahi-Sichani, M., 1162T Fallet-Bianco, C., 77 Fallin, M. D., 343, 463F, 1472W, 2563T Fallon, J., 2469W Fam, H. K., 2849T Fan, B., 1887W* Fan, J. B., 596W, 1193F, 3451T Fan, J.-B., 942T, 1238F Fan, J.-H., 1010F Fan, J. H., 1076F Fan, S., 1369F Fan, W., 888T, 1110W* Fancher, K., 983F Fanen, P., 572W Fang, E., 399 Fang, F., 3237W Fang, J., 1097F Fang, P., 337 Fang, Q., 1878W* Fang, R., 3612W Fang, S., 1291F*, 1409W Fang, X., 3081W Fanganiello, R., 852F* Fann, C., 1557T Fann, C. S. J., 1380T, 3457T Fann, S. J., 2245T Fann, Y., 1774W Fannemel, M., 3096F Fanning, J., 3700W Fanous, A. H., 2500T Faraco, J., 2543F Faraone, S., 1498F Faraone, S. V., 2515T Faravashi, N., 975W Fardeau, M., 328 Fardo, D., 1147T, 2243F Fare, T., 2220W Fares-Taie, L., 390 Farez, T., 778W *Presenting Author

357 SPEAKER AND AUTHOR INDEX 355 Faria, R. G., 1903T Farias, F. H., 2847F Farias, T. D. J., 1405F Farina, G., 157 Fariss, R. N., 824F, 2183F Färkkilä, M., 2023T, 2348F Farley, J., 1186T Farlow, J., 2556W* Farmaki, A., 2044T Farmaki, A. E., 3396T Farmer, A., 2703F*, 3727F Farnham, J. M., 1149W Farokhi, E., 2013W Farook, V. S., 2339F Farooqi, I. S., 43 Farrall, M., 115, 1640T Farrell, J., 385, 2563T Farrer, L., 385*, 1571W, 2207F, 2498F Farrer, L. A., 343, 344, 1305T, 1476T, 2503T, 2511W, 2528F, 2563T, 2621F Farrer, L. B., 2488T Farrer, M., 2537F Farrer, M. J., 346 Farrow, E., 366 Farrow, E. G., 2894T Faruque, M., 2043W Farwell, L., 1754W Fasquelle, L., 2685F Fast, S., 1371T Fatahi, F., 2008T* Fatemi, A., 2907F Fatemifar, G., 1528F* Fathalla, B., 2713W Fathi, D., 3163W Fattal-Valevski, A., 2447F Faucz, F., 1151F, 3055W* Faucz, F. R., 870T Faugère, V., 2947W Faulkner, G., 1229F Faury, D., 1182W Fava, V., 1899W Fava, V. M., 1978T, 2289W Favarin, M. C., 1045T Favaro, F., 2673F, 2746W* Favor, J., 1689T, 2684T Fawcett, G. L., 595F, 2413T* Fazio, S., 1634T Fazli, H., 860T Fecenko-Tacka, K., 853F Feehery, G. R., 3702W Feely, S. M. E., 1871F Feenstra, B., 1528F, 3028T Feenstra, I., 58 Feger, C., 328 Feguson, J., 1642T Fehrmann, R. S. N., 1284T, 1503T Fei, J., 2985T Feigenbaum, A. S., 2759T Feinerman, B., 792W* Feingold, E., 22, 253, 1438F, 1464T, 1474F, 2034W, 2069F, 2142W, 2156F, 2178W Feingold, M., 131 Feitosa, M., 1920W Feitosa, M. F., 111, 1650T*, 1913F, 2073W, 2275T Fejerman, L., 1075T* Fejes, A., 3641F, 3662W Fejes, A. P., 2772F Feki, A., 67 Feld, R., 1108T Felder, R., 245 Feldhahn, M., 1200W, 1233W Feldman, D., 998F Feldman, M. W., 1112F Feldmesser, E., 2875W Feliciani, C., 745F Feliperamirez, D., 3036F Felix, J., 111 Felix, J. F., 2073W Felix, S. B., 1503T Felix, T., 2270F* Felix, T. M., 2746W Fellay, J., 2050T Fellmann, F., 2877F Fellous, M., 3345T Felsenfeld, A., 1845W Feng, B., 2545T Feng, F., 1004F Feng, G., 1666T Feng, H., 2420F Feng, J. S., 2985T Feng, Q., 647T Feng, S., 521F, 1444F, 1568W*, 3541F* Feng, T., 1376W* Feng, Y., 3509T Fenizia, F., 1060T Fenton, J., 2767W Fenwick, A. L., 218 Feolo, M., 3330T, 3582W, 3625F Ferasin, S., 2708T Ferec, C., 1728W* Fereira, J. A., 2395T Feret, H., 2904F Ferguson, B., 595F Ferguson, C. J., 2471F Ferguson, J., 2204F, 3551F Ferguson, N., 1065W Ferlazzo, E., 2780T Fermano, Z., 2381F Fernandes, A., 1968W, 2017T Fernandes, B., 994T Fernandes, G. R., 776W, 1202F Fernandes, J. K., 1662T Fernandes, R., 1747W Fernandes, S., 2982T Fernandez, B., 175 Fernandez, B. A., 2575T, 3086F Fernandez, C., 2274W Fernandez, L., 196*, 2389T Fernandez, P., 3332W Fernandez, T. V., 2602T Fernandez-Lopez, J. C., 3255T* Fernández-Rhodes, L., 2042F Fernhoff, P., 1679T Ferrandino, A., 334 Ferrannini, E., 1624T Ferrante, D., 1153T Ferrara, A., 2140T Ferrari, C., 299 Ferrari, I., 903W, 961W Ferraris, A., 943W, 2777T Ferrat, F., 2866W Ferraz-de-Souza, B., 361 Ferreira, A. C. S., 182, 1573F Ferreira, C. A., 2813T Ferreira, M. A. R., 2161T, 2323T* Ferreira, R., 1343W, 3600W Ferreira, R. C., 2091W Ferreira, R. G. M., 2352W Ferreira, S. G., 814F Ferreira, T., 108, 119, 1308T, 1954T*, 2076W, 2123F, 2137T, 2147F Ferreira, Z., 3306T* Ferreira-Gonzalez, A., 3512T Ferreiro, A., 2945T Ferrell, R., 2960T Ferrell, R. E., 1963T Ferrer, X., 716T Ferrer Admetlla, A., 3311W* Ferrero, I., 2810T Ferrer-Torres, D., 3254W Ferretti, V., 135 Ferriero, R., 164* Ferrucci, L., 1391W, 2148W Ferry, K. M., 2999T Fert-Bober, J., 80 Fertrin, K. Y., 2751F Ferwerda, B., 283 Fesel, C., 1979F Festen, E. M., 1503T Fetni, R., 2866W Fett-Conte, A. C., 2270F Feuer, E., 1543F Feuk, L., 2920W, 3728W Fialho, S. C. M. S., 1405F Fichera, M., 100, 3114F Ficicioglu, C., 705F Field, L. L., 1936T Fielding, S., 1773W Fields, S., 311 Fierro-Rodriguez, D. A., 3187W Fietze, I., 2568W Figarella-Branger, D., 328 Figlin, R. A., 651T Figueira, P., 2385W Figuera, L. E., 650T, 1111T, 1128W Figueroa, A., 3350W Figueroa, J., 1117T, 2296T Figueroa, J. D., 1091F Filges, I., 3044F*, 3109W Filho, R. C. C., 3130F Filhol, E., 324 Filichev, V. V., 3440T Filipescu, G. A., 2728W Filippi, T., 881W, 3050F Filippova, G., 2634W Filippova, G. N., 55 Filosa, S., 2629T Finch, S. J., 1338T, 1359T FIND Consortium, 1914W FIND Research Group, 1348F Finegold, D., 2960T* Finelli, M. J., 2649W Fingerlin, T., 433F Fingert, J. H., 2750T Finkbeiner, S., 2643W Finkel, R., 1702T Finnerup, N. B., 2369F Fiocchi, C., 1466W Fiorentino, F., 71* Fiorillo, E., 1516F Fiorito, G., 1153T, 1712T Firinu, D., 1516F Firl, R., 1267T Firmino, A., 1946F Firth, H., 101, 291, 364 Firth, H. V., 3109W Fisch, A. S., 602T* Fisch, G., 3092F* Fischbeck, K. H., 2470T Fischer, A., 2103W*, 3224F Fischer, J., 1952F Fischer, K., 190, 1792W*, 1954T, 2123F, 2144F, 2147F, 2175W, 3353W Fischl, B., 2444F Fish, A., 2321F* Fish, A. E., 1286W Fishbein, M., 1685T Fisher, D., 144 Fisher, J. A., 3708W Fisher, L., 2184W Fisher, S. A., 968T Fisher, T., 316 Fisher-Hoch, S. P., 2048F, 2345F Fishman, E., 80 Fishman, L., 1738W Fishman, S. J., 83 Fitzgerald, K., 2430W FitzGerald, O., 2160W Fitzgerald, T., 101, 364, 455F Fitzgerald, T. W., 291* Fitzgerald-Butt, S., 1680T Fitzgerald-Butt, S. M., 1646T Fitzpatrick, A. L., 1653T FitzPatrick, D., 4, 101, 291, 364, 3072F Flachsbart, F., 515F, 1943F*, 2295W, 2303F Flaman, J.-M., 1090T* Flanagan, J., 732T Flanagan, J. M., 2331W* Flanagan, S., 3494T Flanagan, S. E., 2704W, 2709F Flannagan, J. M., 648T Flannery, K. C., 1769W Flannick, J., 169, 172*, 1677T, 2209T Flax, J., 2381F Fleming, A., 361 Fleming, F., 422W Fleming, M. R., 202 Fleming, M. T., 1878W Fletez-Brant, C., 545F Flexeder, C., 2167T Flicek, P., 464W, 497F, 3636W, 3732W SPEAKER AND AUTHOR INDEX *Presenting Author

358 356 SPEAKER AND AUTHOR INDEX Flickinger, M., 1448W* Flierl, A., 803W Flint, J., 105, 355 Flodman, P., 1791W Flogelova, H., 845F Florendo, D., 2466W Florendo, D. J. A., 2473T Florentin-Arar, L., 539F Florer, J. B., 736T* Flores, C., 2296T Flores, D., 2495F Flores, R., 2711T, 3084F Florez, J., 249, 2307W Florez, J. C., 50, 269 Florian, I. S., 849F Florin, A. T., 1145F Floyd, J., 1518T* Fluiter, K., 197 Flutre, T., 273* Flyvbjerg, A., 2070W, 2358W Foco, L., 2039F Fode, P., 1323T Fogarty, M. P., 46, 1627T, 2012F* Fogarty, S., 2395T Fogarty, Z. C., 3564W Foisy, S., 1678T, 1982F* Fojtík, P., 2865F Fok, A. S. L., 821F Fokkema, I. A. C., 3610W Fokkema, I. F., 3611F Fokstuen, S., 2877F, 2937F Foley, A. R., 2812W Foley, J., 3037W Foley, R., 2945T Folk, J. C., 2750T Folkersen, L., 1651T Folseraas, T., 2101T Fölster-Holst, R., 1939T Folwaczny, M., 2058W Fombonne, E., 175 Fomous, C., 1762W Fong, J. C., 2639F* Fong, J. H., 300 Fong, K., 2971T Fonseca, A. C. S., 874T*, 882T Fonseca, S. A. S., 882T Fonseca-Kelly, Z. D., 1756W Fonseka, C. Y., 444W Fontana, E., 2795T Fontanillas, P., 169, 176, 269 Fontes, A. M., 1045T Fontes, F., 1977W Foo, J. N., 1934F*, 2055W Footz, T., 575F* Forabosco, A., 847F Ford, B., 442W Ford, J., 2043W Foreman, M. G., 1425T Forestier, E., 1023W, 1024T, 1035W, 3427T Forge, A., 2663T FORGE Canada Consortium, 131, 2772F, 2790F, 2794W, 2800W, 3127W FORGE Consortium, 701F Forman, E. J., 2999T Forman, J., 2354F Forman-Neall, L., 1859F Fornage, M., 350, 1592T, 2210F, 2269T Fornarino, S., 3304F Forni, S., 1684T Foroud, T., 2136W, 2531F, 2556W Foroud, T. M., 343, 2511W Forouhi, N. G., 1626T Forrest, G., 1605T Forrester, T., 2158T Forsberg, L. A., 434W* Forsberg, R., 3641F, 3662W Forsblom, C., 2307W Forsmark, L., 3685F Forsstrom, L., 2888T Forster, M., 3583F Forsythe, E., 3211W* Fortes, F., 1102T Fortner, M., 474W Fortugno, P., 2760F Fortuna, A., 913W* Forzano, F., 131 Fosdal, I., 2699T Foskett, T. J., 824F Fosså, S. D., 991T Foster, B., 368 Foster, C., 2043W Foster, J. G., 103 Foster II, J., 57 Fostira, F., 1191W*, 1228T Fotia, G., 823F Foulkes, W., 28, 1001F, 1262F, 3595F Foulkes, W. D., 1065W, 1214F Founds, S. A., 1884W Fountzilas, G., 1228T Fowler, B., 1874F Fowler, S. P., 2339F Fowler, V. G., Jr., 1323T Fox, A. S., 2413T Fox, C., 2337W Fox, C. S., 1954T, 2030F, 2123F, 2147F Fox, E., 2063F Fox, E. R., 1677T Fox, J. E., 884T Fracasso, N. C. A., 3280F Frackelton, E., 319, 1996T, 1997F, 2229W, 2252F, 2722W, 2785W*, 2856F, 2872W, 2892F, 2904F, 3573F Frade, A. F., 1593T Fraga, L. R., 3031T Fragata, A., 1593T Framstaller, P. P., 2116T França, M. C., Jr., 2609F, 2653T Francalacci, P., 3377W Francannet, C., 894T Francelle, L., 259 Franceschini, N., 111, 1437T, 1599T, 1913F, 2042F, 2063F, 2073W*, 2145W, 2336F, 2337W Francioli, L., 459F Francis, R. M., 3419T Francisco, V., 2085W Francis-West, P., 814F Francke, U., Session 57, 114, 1017W, 1782W*, 2089T, 2100W, 2111F, 2115W Franco, A., 2234F Franco, B., 808F, 2810T, 2955F Franco, L. M., 337, 2158T, 2189F* Francois, G., 2002T François, S., 716T Franek, B. S., 2046W Frank, J., 2087F Frank, M. B., 529F, 2188T Franke, A., 154, 515F, 1939T, 1942T, 2058W, 2101T, 2102F, 2103W, 2303F, 2314T*, 2315F, 2319W, 2368T, 3224F, 3583F Franke, B., 243, 306, 621T, 1498F Franke, L., 108, 461F, 523F, 1284T, 1330F, 1503T, 1621T, 2088W Frankel, W. L., 1173W Frankish, A., 367, 506W Franklin, C., 2082W* Franklin, N., 743F* Frankowski, H., 2628W Franks, P., 249, 2187W Franks, P. W., 117, 1954T, 2123F, 2147F Fransen, E., 59, 2104T*, 2948T Fransen, K., 461F Frants, R., 2107T Franzil, A. M., 692T Frase, A., 1442W, 3542W* Frase, A. T., 3624W Fraser, D., 630T, 1491T Fraser, R. M., 1383T Frasson, M. C., 3107W* Fraumeni, J., 1012T Frauscher, B., 2567F, 2568W Frayling, T., 269, 584W, 1284T, 1503T, 1513F Frayling, T. M., 108, 176, 1624T, 1923W, 2148W, 2241W, 2308T, 2339F Frazer, K., 3307F Frazer, K. A., 395, 1051T Frebourg, T., 32, 345, 1090T, 1212W, 1222T, 3538W Frederickson, K., 1242W Fredrich, M., 740T* Fredrickson, K., 2301W Freebairn, L., 1295W Freedland, S., 1185W Freedman, B., 1706T, 2332T Freedman, B. I., 1648T, 1661T, 1879T, 1979F, 2046W, 2310W Freedman, M. L., 1231T Freedman, N. D., 1010F, 1076F Freedman, S., 2328W Freeman, A. C., 2805F Freeman, C., 1031F Freeman, N., 2608T Freeman, S. B., 3042F Freese, D. K., 718T Freeze, H. H., 1758W Freidin, M. B., 2271W* Freimer, N., 252, 1480F, 2262W, 2343W Freimer, N. B., 2222F, 2320T Freisinger, P., 699F, 782W, 2917W Freitas, E. L., 439F, 891W*, 961W Freitas, I. S., 1902W Freitas, J., 3656W Freitas, L. G., 3130F Frelin, L., 3374W French, J., 210 French, J. D., 209 French, S., 981W French LFS Working Group, 1090T Freppon, D., 893W Freudenberg, J., 306, 3403W* Frey, M. K., 1272W Frias, S., 875W*, 928T, 956T, 960T, 1048T, 1049F Frías, S., 976T Frick, S. L., 2860W Fridley, B., 139, 603T Fridley, B. L., 1247F, 1426F*, 3451T Fridman, C., 1629T*, 2706F Friedburg, M., 3142F Frieden, I., 2926W Friederich, M., 2884W Friedlander, C., 3652W* Friedländer, M., 567F Friedlnader, C., 3619F Friedman, B., 3163W Friedman, D. S., 2154W, 2240F Friedman, E., 3336T*, 3345T Friedman, J. M., 1840F, 1846W Friedman, J. S., 2183F Friedman, L., 2919F Friedman, R., 2104T, 2184W Friedman, S. D., 2530T Friedman, T. B., 2724F Friend, K., 198 Friez, M. J., 2901F Frints, S. G. M., 215 Frisch, E., 699F Fritsch, C., 580W Froguel, P., 2162F Frolenkov, G. I., 2663T Froment, A., 283, 3303T, 3338W Fromer, M., 290, 1325W, 2577W, 2618F Frommolt, P., 2861T Fronick, C., 2325W Frost, J. M., 3501T Frucht, S., 442W *Presenting Author

359 SPEAKER AND AUTHOR INDEX 357 Frumkin, A., 3048F Fry, A., 124 Fry, G., 3717F Frydman, M., 2919F Frydman, N., 72 Frydman, R., 72 Frye, M., 605T, 2516F Fryns, J. P., 124 Fryssira, H., 84, 2937F Fryzek, J., 1565W Fu, A., 3707F Fu, A. Q., 1580W* Fu, B., 438W Fu, C., 2850F Fu, J., 523F Fu, R., 443F Fu, W., 10, 283 Fu, Y., 3483T Fu, Y.-H., 2581T, 2779W Fu, Y. H., 2423F, 2610W, 2667F Fu, Y. P., 1092W Fu, Y.-P., 1091F* Fucci, L., 3492T Fuchs, H., 1919F Fuchs, T., 2801T* Fuchsberger, C., 46, 88*, 172, 176, 1513F, 1923W, 2308T, 2339F Fuentes-Fajardo, K., 359, 2610W, 2938W, 3543F Fuji, N., 726T Fujii, N., 2400W Fujimoto, A., 396* Fujio, K., 1984T Fujioka, R., 2647T Fujioka, Y., 2472W Fujita, H., 2071T Fujita, K., 52, 3221W Fujita, M. Q., 1321F Fujita, P., 3557F Fujita, R., 3377W Fujita, Y., 3230F Fujiwara, T., 2400W Fukai, K., 3146F Fukao, A., 1549F Fukuda, S., 559F Fukuda, Y., 2409W, 2569T Fukumaki, Y., 2400W, 2647T* Fukushi, D., 2748F Fukushima, Y., 2758W, 3043W, 3230F Fuller, A., 332 Fuller, C., 2246F* Fuller, J., 2933T, 3399W Fullerton, S. M., 1828F* Fulmer-Smentek, S., 922T, 975W, 3726W Fulp, J., 1061F Fulton, L. L., 2587T Fulton, R., 484W*, 1210T, 2325W Fulton, R. S., 244, 2587T Fumagalli, M., 3289F, 3312T* Fun, J., 1859F Funalot, B., 2694F Funanage, V. L., 2855T Funato, F., 755W Funayama, M., 1730W, 2559W, 3134F, 3221W Funke, B. H., 1677T, 1754W Furey, T. S., 292 Furge, K. A., 1186T Furlan, L., 825F Furlotte, N., 1337W, 3598W* Furtado, G. V., 2424W, 2626T, 2642F Furth, S. L., 2121W Furukawa, M., 3513T Furuya, H., 2400W* Furuya, N., 1795W, 2891T Fusco, C., 775W, 3087W, 3256F Fusco, F., 505F, 2629T Fusco, I., 2827W Futerman, A. H., 2869W Futscher, B. W., 3712W Fuwa, M., 2129F Fuzzell, D., 3335W Fylaktou, I., 2995T G Gaál, E. I., 1253F Gaasterland, D., 2154W, 2240F, 2263T Gaasterland, T., 2154W, 2240F, 2263T Gaba, C., 1454W Gabelle, A., 2638T Gabelli, C., 2775F Gabis, G., 660T Gaborieau, V., 1012T, 1496W Gabriel, L. A. R., 3130F* Gabriel, S., 8, 280, 322, 1490W, 1725W Gabriel, S. B., 1677T, 2613W GABRIEL and EArly Genetics and Lifecourse Epidemiology Consortia, 2168F Gaddis, N., 2114F Gaddis, N. C., 2170T Gadelha, A., 2533T, 2534F Gadi, I., 949W Gadi, I. K., 3113W Gaede, K. I., 2103W Gaedigk, R., 811F Gaffney, D., 3507T Gaffney, D. J., 153 Gaffney, P., 1901F Gaffney, P. M., 306, 549F, 566W, 2046W, 2084F Gage, F. H., 436W Gagliardi, M., 2763F, 2766F*, 2774T, 2780T Gahl, W., 359, 755W, 2610W Gahl, W. A., 709F, 711F, 1702T, 2442W, 2838F, 2870T, 2938W, 3080F, 3543F Gai, X., 1756W, 2884W, 2943F, 3653F* Gaieski, D. F., 3329W Gaieski, J., 3373F Gaieski, J. B., 3329W*, 3377W Gail, M. H., 1314T Gaillard, D., 403, 3241W Gaillard, R., 2081F Gaillon, T., 3157W Gaio, V., 1968W*, 2017T Gajecka, M., 934T* Galabov, A., 3481T Galanello, R., 2001W Galanter, J. M., 158, 3385F Galanther, J., 3363T Galarneau, G., 1906T, 2247W* Galas, D. J., 195 Galasko, D., 340 Galavotti, R., 2548T Galaxy Development Team, 3545F Galaxy Team, 3547F Galea, S., 435F Galeone, D., 2766F Galesi, O., 100 Galhano, E., 3019T Galimberti, D., 2095T Galindo, P., 694T Gall, A., 2163W Gall, T. R., 3543F* Gallagher, C. J., 1016F, 1107W Gallagher, L., 2770W Gallagher, R. C., 3133W* Gallant, N. M., 712T* Gallardo, M., 546W Gallego Romero, I., 3322F Gallegos, L. P. C., 3064F Gallegos, M., Jr., 1111T* Gallegos, M. P., 1077W, 1127F, 1128W Gallentine, W. B., 3 Gallinger, S., 141, 1067F, 1079F, 1093T, 1206W, 3478T Gallo, C., 3327T Gallo, E., 80 Galluzzi, G., 1776W Galusca, B., 2278T Galvez-Peralta, M., 2800W Gamazon, E., 613T, 2333F Gamazon, E. R., 269, 424W, 623T, 1003T, 1495F, 2192F, 2196W*, 2197T Gambardella, A., 2763F, 2766F, 2774T, 2780T Gambin, A., 432W, 485F Gambin, T., 432W, 485F*, 898T Gambineri, E., 3114F Game, L., 1618T, 2005T Gameiro, C., 572W Gamez, J., 2930T Gámez-Nava, J. I., 2363F Gammill, H. S., 74, 94 Gammon, A. D., 1058F Gan, X., 355* Gandhi, M. K., 1042T Gandolfi, B., 3252T Gandy, A., 3518T Gandy, S., 940T Ganesh, S., 1663T Ganesh, S. K., 1408F, 1639T*, 1659T Gangnon, R., 1267T Ganguly, A., 140, 391* Ganguly, B. B., 3010T* Ganguly, T., 140, 391 Ganna, A., 2105F* Gantz, B. J., 2301W Gao, C., 824F Gao, F., 125, 3415T* Gao, G., 1354F*, 1410T, 3442T, 3452T, 3604W Gao, H., 1112F*, 1369F, 2358W* Gao, J., 1558F* Gao, L., 1900T, 2043W Gao, X., 221, 1004F, 2153F*, 2217W, 3108F* Gao, Y., 36 Gao, Z., 285 Gapstur, S., 205 Gapstur, S. M., 1091F Garbanati, J., 753T Garbarini, J., 65 Garbes, L., 236 Garcia, L., 2360F Garcia, M., 834F, 839F, 2145W, 2165F García, N., 987W Garcia, R., 946T* Garcia, V., 54 Garcia-Barceló, M.-M., 408, 1930T*, 2066F, 2932W, 3123W Garcia-Blanco, M. A., 2454W Garcia-Closas, M., 206, 1091F, 1117T, 1150T García-Closas, R., 1091F García-Cruz, D., 3187W, 3188F Garcia-Figueroa, J., 682T Garcia Garcia, G., 2947W Garcia-Guzman, A., 3062F* Garcia-Hernandez, N., 1168T García-Miñaúr, S., 126, 217 García-Ortiz, H., 48 García-Robaina, J. C., 2296T García Robles, R., 2990T Gardeitchik, T., 672T Garden, G. A., 2628W Gardner, J., 1291F Gardner, J. C., 3212F Gardner, R., 1263W Gardner, S., 1874F, 3579F Garg, N., 1587T, 1598T Garg, P., 3516T Garg, V., 195 Garge, N., 1392T Garnai, S., 2135F Garner, J., 3582W, 3625F Garraway, L. A., 402 Garrec, C., 1204T* Garrett, M., 531F* Garrett, M. E., 2340W Garrett, T., 2041T Garrett-Bakelman, F., 3464T SPEAKER AND AUTHOR INDEX *Presenting Author

360 358 SPEAKER AND AUTHOR INDEX Garrido, L. M., 1343W, 2352W Garrido, M. A. H., 1018T Garrison, E., 41* Garrison, N., 1813W* Gartioux, C., 2436W Garvey, W. T., 1662T, 3371W Garwood, M., 821F Gary, D. S., 545F Gasanova, V., 1181F Gascon, G. G., 8 Gaspar, H., 2928F Gaspar, H. B., 1748W Gaspard, H., 129 Gasparini, P., 1484W, 2128T, 2366F Gasperini, M., 263 Gass, M., 2360F Gassmann, M., 3705F* Gastier-Foster, J., 456W Gastier-Foster, J. M., 912T Gates, H. L., Jr., 2087F Gatinois, V., 936T* Gatti, R. A., 790W Gat-Viks, I., 322 Gau, C., 1736W Gauderman, W. J., 2153F Gaudet, M., 208 Gaudi, S., 2564F Gaudreault, N., 1655T Gauguier, D., 1640T Gaulton, K., 176, 1513F Gaulton, K. J., 172, 1519F, 1627T, 2324F* Gautel, M., 2945T Gauthier, J., 2306F, 2338T, 2342F, 2558F Gauthier, M.-P., 532W, 3684W Gautier, E., 1293T Gauvin, H., 1478W* Gavier, M., 1834F Gawrieh, S., 441F, 1667T Gayagay, T., 3167W Gaynor, J. W. G., 2443T Gayther, S., 139, 210 Gayther, S. A., 1156T Gazave, E., 183 Gazdar, A., 1454W Gazula, V., 202 Gazzellone, M. J., 2575T Gbeha, E., 2266T, 3260W, 3268F, 3341W Ge, B., 256, 394, 569F, 1207T, 1215W, 3514T Ge, D., 53, 2335T Ge, J., 2403W*, 3544W* Ge, M., 661F Ge, R. L., 3378T Gearhart, J., 3704W Gecz, J., 2629T Gécz, J., 2640W Gee, H. Y., 406 Geer, J., 33 GEFOS Consortium, 109, 1334W Gehrig, C., 561F, 2877F Gehring, W., 2430W Geiger, E. A., 819F, 2884W Geigl, J. B., 1063T*, 1115F, 3116F Geiser, H., 3656W Geiss, G., 1039T* Gejman, P. V., 1282F, 2576F Gekas, J., 3060F, 3071W* GELAC Study Group, 989F Gelb, B. D., 82 Gelb, M. H., 727F Gelber, S., 3012T Gelernter, J., 2207F, 2497T, 2503T*, 2621F Geller, F., 1528F, 3028T* Gellera, C., 2764W, 2775F* Gelley, L., 3316F Gelman, A., 53 Geloso, M. C., 2235W Gelowani, V., 61, 63* Gemelos, G., 3018T Gemma, A., 1697T GENCODE Consortium, 367 Generation Scotland, 1618T Genereux, D. P., 1580W Genes in Schizophrenia (GENESIS) Consortium, 2600F GENESIS Consortium, 1624T Genetic Analysis of Psoriasis Consortium, Wellcome Trust Case Control Consortium 2, 154 Genetic Consortium for Anorexia Nervosa, Wellcome Trust Case Control Consortium 3, 2522F Genetic Disorders of Mucociliary Clearance Consortium, 2851W Genetic Investigation of ANthropometric Traits Consortium, 2123F, 2241W Genetic Investigation of ANthropometric Traits (GIANT) Consortium, 1954T Genetics of Obesity-Related Liver Disease Consortium, 2275T Genetics of Type-2 Diabetes Consortium, 88 GENEVA Alcohol Consumption Working Group, 2228F Genevieve, D., 2386T, 3121W, 3166F Geng, L., 2840T Geng, Z., 1542T* Genick, U. K., 1281T GENIE Consortium, 2307W Génin, E., 2126F, 3328F, 3408T* Genographic Consortium, 3329W, 3349F, 3373F GenoMEL Consortium, 211 Genome of the Netherlands Consortium, 459F Genome Reference Consortium, 464W Genome-Wide Association Studies of Prostate Cancer in African Americans, 1324F Genomics and Randomized Trials Network ( GARNET), 123 Genovese, G., 284*, 2618F GenTAC Consortium, 1700T GenTAC Investigators, 1743W Gentry, R. C., 9 Gentschew, L., 1943F Genuardi, M., 1130F George, A., 1302T George, B., 931W George, E., 1019F George, M. F., 1289W*, 1301W George, P., 967W George, V., 3418T Georges, M., 256 Geppert, M., 3364F, 3402T Geraedts, J. P. M., 2996T Gerafi, S., 858T Geraghty, E., 2890W* Geraghty, M. T., 160, 701F*, 719F Gerard, M., 2887W Gerards, M., 708T Gerber, S., 324, 390 Gerdes, M. G., 2443T Gerety, S., 101, 364 Gerfen, J., 338* Gerges, N., 1182W Gerhard, G. S., 2078F Gerhart, D., 140 Gerig, G., 2529W Gerkes, E., 126 Germain, D. P., 772W*, 890T Germain, N., 2278T Gerrits, M. M., 2448W* Gerry, N., 966T Gerry, N. P., 632T Gersak, K., 2929W Gershenwald, J., 1291F Gershon, E. S., 1957T Gerstein, M., 334, 551F, 2444F, 3251W Gerstein, M. B., 41, 280 Gertz, E. M., 1958F Gervin, K., 3510T Geschwind, D., 553F, 2444F, 2479T Geschwind, D. H., 2478W, 2518T, 2551T, 2639F, 2658W, 2779W, 3487T Geske, J., 605T Gesualdo, L., 845F Getts, B. C., 1142F Getz, G., 25, 368, 402 Geuvadis Consortium, 567F, 582W Gevers, D., 537F Geyer, C. R., 3488T Ghaderibarim, F., 2150F Ghaffarpour, M., 1056W*, 1124F Ghamsari, L., 2660F Ghandour, H., 3700W Gharanei, S., 2767W* Gharani, N., 632T* Gharavi, A. G., 845F Gharib, S., 584W Gharib, S. A., 1284T, 1503T Gharizadeh, B., 398 Ghassibe, M., 1640T*, 2002T Ghatreh, K., 2008T Gheno, T. C., 2424W, 2626T, 2642F Ghezzi, A., 2095T Ghezzi, D., 699F Ghia, E., 395 Ghiban, E., 2587T, 3316F Ghiggeri, G. M., 845F Ghimbovschi, S., 3249W Ghorab, K., 328 Ghosh, A., 1413T* Ghosh, A. K., 2680W Ghosh, J., 971W Ghosh, K., 1572T Ghosh, M., 918T Ghosh, S., 1297F Ghoshal, U. C., 1137W Ghoumid, J., 843F*, 3157W, 3241W Ghoussaini, M., 205, 206, 209* Giacalone, G., 2095T Giacobini, M., 188 Giacomini, K. M., 246 Giambartolomei, C., 122, 1621T* Gianfrancesco, F., 2916F Giannotta, S., 3415T GIANT Consortium, 108, 1387F, 2074T, 2090F, 2147F, 2210F Giardina, E., 2160W Giardine, B., 3545F* Gibb, A., 3440T Gibbens, B., 2645F Gibbon, S., 3327T Gibbons, P., 3331F Gibbons, R., 418W* Gibbs, J. R., 2148W, 2611T Gibbs, R., 121, 174, 183, 349, 595F, 1520W, 1585T, 1592T, 1599T, 1854F, 2802F, 2880F, 2934F, 3209W, 3597F Gibbs, R. A., 3, 244, 314, 360, 648T, 1221W, 1231T, 1735W, 1742W, 1757W, 1761W, 2413T, 2577W, 2798T, 2864T, 2881W, 2883F, 2908W, 3576W Gibbs, R. J., 564W Gibson, G., 31, 2779W Gibson, J., 531F, 2072F Gibson, Q., 602T Gibson, R., 2537F Gibson, R. L., 171 Gibson, W., 2797W Giedd, J., 433F Giedraitis, V., 434W Gieger, C., 110, 190, 1942T, 2086T, 2103W, 2160W, 2175W, 2226W, 2568W Giffen, C., 1218W Gigarel, N., 72 *Presenting Author

361 SPEAKER AND AUTHOR INDEX 359 Gigek, C. O., 1132T, 3421T, 3503T Giger, T., 561F Gignoux, C., 3360T Gignoux, C. R., 158*, 1425T, 3385F Gigot, N., 2716W, 2729T, 2792T Gijselinck, I., 2815W Gil, A., 1968W, 2017T Gil, G. P., 426W, 2718F Gil, L., 3732W Gilad, Y., 2*, 1514W, 2031W, 3251W Gilbert, D., 75* Gilbert, J., 2135F, 2637W, 3706W Gilbert, J. R., 9, 341, 347, 2378F, 2445W, 2572T, 2583W*, 2586W, 2614T Gilbert-Dussardier, B., 77 Gilbey, M., 1147T Gilboa, T., 2993T Gil-da-Silva-Lopes, V., 1865F, 2270F Gil-da-Silva-Lopes, V. L., 959W, 1903T Gileadi, O., 219 Giles, G., 28, 205 Giles, G. G., 1148F, 1213T, 1214F Gilfillan, G. D., 3510T Gilfix, B. M., 673F Gilissen, C., 97, 100, 125, 160, 214, 672T, 1749W* Gilissen, C. F. H. A., 1734W Gilkeson, G. S., 1662T, 1979F, 2046W, 3371W Gill, D. F., 614T Gillanders, E., 1543F Gillanders, E. M., 211 Gillani, N., 1377T, 1928F Gillani, N. B., 1316W Gillen, D., 1493W Gillessen-Kaesbach, G., 204, 219, 2925F, 2958F Gilliam, D., 2805F* Gilliaux, M., 3098F Gillis, A. J. M., 1122W Gillis, J., 447F, 3568W Gillis, L., 79 Gillis, T., 1964F Gillisen, C., 216 Gillson, C., 1686T Gilman, R., 1119W Gilman, R. H., 3325F Gilmore, B. L., 2636F Gilmour, K. C., 1748W Gilsanz, V., 812F Gimelli, S., 67, 2937F Gimigliano, A., 2695W Gindlesperger, A., 3011T* Ginno, P., 552W Ginsburg, G. S., 147 Ginty, D. D., 308 Ginzinger, D., 256 Gioia, J., 3717F Giordano, J. L., 3012T* Giordano, M., 1153T, 2827W Giorgini, F., 2641T Giorgio, E., 550W* Giovannoni, G., 2015F Giovannucci Uzielli, M. L., 3114F Girard, M., 522W, 936T, 2386T, 3121W, 3166F Girard, S., 3268F, 3401W* Girard, S. L., 2558F, 2591F Giraud, S., 1212W Giri, N., 1196F Girimaji, S. C., 2776W Girirajan, S., 12, 14*, 98, 2491T Girisha, K. M., 3173W Girling, A., 1257W Girodon, E., 572W, 1768W, 1874F* Girodon, F., 2716W Giste, E., 255 Giudicessi, J. R., 2885T Giuffre, A., 3669F, 3709F Giugliani, C., 1851F Giugliani, R., 685F*, 691F, 747F, 772W, 879W, 1851F, 2425T Giulianini, F., 51 Giuliano, F., 124 Giurdanella, M. C., 1712T Giurgea, I., 843F, 894T, 3157W, 3241W Gjessing, H. K., 213 Gladman, D., 154, 448W, 1952F Glahn, D., 2061W Glahn, D. C., 1923W Glaser, A., 1612T Glaser, R. L., 3154F Glaser, T., 2926W Glasheen, C., 2114F, 2170T Glashoff, R. H., 3332W Glaspy, J. A., 136 Glass, D., 44, 546W, 583F, 1440T, 2143T Glass, I., 2789T, 2890W Glass, M., 727F Glassford, M., 1860F Glavač, D., 3381T, 3422T* Glazer, N. L., 2080T Gleeson, J., 267 Gleeson, J. G., 3581F Glenn, G., 132 Glenn, S. B., 529F, 1979F, 2188T Glentis, S., 1228T Glessner, J., 2229W, 2492F, 3546W* Glessner, J. T., 1996T, 2121W, 2389T Gliedt, T., 3664W GliomaScan Consortium, 1372F Global Lipids Genetics Consortium, 117 Glodzik, D., 1481W* Gloeckner, C. J., 86 Glogowski, E., 1841W Glorieux, F. H., 3169W Glotzbach, C., 934T Glover, T., 2879T Glover, T. W., Session 22, 339 Glunk, V., 3536W Glusman, G., 195 Gnirke, A., 322, 1725W Go, M., 1657T Go, M. J., 49 Goate, A., 2228F, 2582F, 2598W, 2650T Goate, A. M., 340, 342, 343 Gobert, D., 56 Gocan, H., 849F Gockel, I., 2088W Godard, A. L. B., 2655W Godbole, K., 911W Goddard, G. H. M., 1329T Goddard, K. A. B., 1869F* Goddard, M., 1360F Goddard, M. E., 108, 1331W Godefroy, O., 3117W Godeiro, C., 2642F Godfraind, C., 1611T Godfraind, P.-L., 1015T Godfrey, M., 1856F* Godi, M., 2827W Godley, L. A., 3472T Godson, C., 2307W Goecks, J., 3547F* Goel, N., 2592W Goel, P., 1715T Goeman, J. J., 542W, 1436W Goes, F. S., 2180F, 2305T Goetz, M., 1247F Goetzman, E., 657F Goff, C. L., 3167W Goff, D. J., 1051T Goffrini, P., 2810T Goin-Kochel, R., 759W* Goin-Kochel, R. P., 299, 2439W Goizet, C., 716T*, 2674W Goj, V., 845F Gokcumen, O., 3251W, 3310F Goker-Alpan, O., 693F, 713F, 768W*, 769W Goksen, D., 3206F Golalipour, M. G., 1096T Golan, D., 1797W, 3711F Golbus, J. R., 1614T, 1683T Gold, B., 1242W Gold, J. A., 3068F* Gold, K. F., 2452T Gold, N. B., 326 Goldberg, A., 2577W, 3351T* Goldberg, R., 3 Goldbladtt, M., 1667T Goldblatt, J., 1216T Golden, D. M., 968T Goldenberg, A., 390, 1551T, 2203T* Goldgar, D., 1492F Goldgar, D. E., 1067F, 1213T Goldin, L. R., 30*, 2191T Goldlust, I. S., 66* Goldman, D., 2574W Goldmann, O., 2251T Goldmuntz, E., 65 Goldschmeding, R., 2848W Goldschmidt-Clermont, P., 1644T Goldsmith, C. L., 1775W* Goldstein, A., 330, 1076F, 1517W Goldstein, A. M., 211, 1010F, 1218W* Goldstein, D., 53, 235 Goldstein, D. B., 203, 2050T, 2335T, 2455T, 2552F, 2875W Goldstein, J., 2618F, 3644W Goldstein, J. I., 290* Goldstein, L. E., 2528F Goldstein, P., 3529F Goldwaser, T., 1793W*, 3022T Golinker, E., 3202F Golka, K., 1335T Gollub, J., 493F, 1142F Golmard, L., 1205F* Golovleva, I., 1024T Golozar, A., 1076F* Golshani, R., 969W Golub, M. S., 2783T Golzio, C., 98, 2458T*, 3296W Gombojav, B., 1654T* Gomes, C., 913W Gomes, V., 3364F, 3402T Gomez, H. T., 926T Gomez, L., 3509T Gomez, R., 3373F, 3377W Gómez-Almaguer, D., 1030T Gómez-Vázquez, M. J., 48, 3255T Gomy, I., 3250F Goncalves, F. T., 2706F* Goncalves, J., 2982T Gonçalves, V., 628T Gonçalves, V. F., 2376W* Goncalves-Dornelas, H., 3107W, 3110F Goncalves Serra, E., 45 Gonder, M. K., 3306T Gondim, C. S. E., 747F Gong, F., 909W Gong, H., 501F Gong, L., 633T*, 635T Gong, T.-W., 1878W Gong, Y., 2210F Gong, Z., 1369F Gonggalanzi, G., 3317W Gonik, M., 2483F Gonsales, M., 2393F* Gonsales, M. C., 2233T Gonsalves, S., 358, 1690T Gonsalves, S. G., 1696T Gonzaga-Jauregui, C., 360, 485F, 2798T* Gonzaga-Jauregui, C. G., 2881W, 2883F, 2908W Gonzales, M., 77, 3129W Gonzalez, A. J., 1627T González, C. A., 987W Gonzalez, D., 362, 1750W Gonzalez, G., 3425T SPEAKER AND AUTHOR INDEX *Presenting Author

362 360 SPEAKER AND AUTHOR INDEX Gonzalez, J., 703F, 2940F Gonzalez, K., 2907F Gonzalez, K. D., 2698W, 2895F, 3065W* Gonzalez, M., 57, 1681T, 2615F*, 2820F, 3364F Gonzaléz, M., 3402T Gonzalez, P., 521F, 3521T Gonzalez, R., 3327T González, R., 2296T Gonzalez, S., 2495F González-Andrade, F., 3364F, 3402T Gonzalez Berjon, J., 893W Gonzalez Burchard, E., 1075T, 3360T, 3380W Gonzalez-Herrera, L., 2272T* González-Llano, O., 1030T González-López, L., 2363F González-Mercado, A., 2363F*, 3188F González-Mercado, M. G., 3188F* Gonzalez-Neira, A., 206 Gonzaludo, N., 620T* Good, B. M., 3584W Goodall, A. H., 3453T Goodarzi, M. O., 1916F*, 2080T Goode, E., 139 Goode, E. L., 210, 1238F, 3451T Goode, M., 2544W Goodier, J., 336* Goodloe, R., 1316W, 1377T*, 1671T, 2041T Goodman, N., 2643W Goodrich, J., 537F Goodrich, J. K., 2029T* Goodrich, M., 3465T Goodridge, D., 3713F Goodship, J. A., 219 Goodwin, A., 3242F* Goodwin, E. H., 948T Goodwin, L., 843F Goossens, M., 572W, 843F, 894T, 1768W, 1796W, 2727F, 3157W, 3241W Gopalakrishnan, R., 529F, 2188T Gopie, J., 1788W Göraler, S., 2107T Gordeuk, V., 3297T Gordish-Dressman, H., 2452T Gordon, A., 71 Gordon, A. S., 244*, 301 Gordon, C., 126*, 3172F Gordon, D., 1338T, 1358W, 1359T Gordon, E. S., 632T Gordon, L., 245 Gordon, L. B., 2879T Gordon, L. N., 606T* Gordon, P., 3141W, 3665F Gordon, S. D., 2133W Gordon-Larsen, P., 1467T, 1913F Gorelenkov, V., 1762W Gorelik, L., 2561F Gorin, M. B., 1963T Goring, H. H. H., 533F, 1406W, 2061W Göring, H. H. H., 1280W, 1282F*, 1458T, 2651F Goris, A., 2086T Gorkin, D. U., 258* Gorman, K., 2234F* Gormley, P., 1325W Gornall, H., 2452T Gorsic, L. K., 614T Gorvel, J. P., 1949F Gosendi, M. E., 129 Gospe, S. M., Jr., 167 Goss, G., 135 GoT2D Consortium, 172, 173, 1519F, 2324F GoT2D Investigators, 1373W, 1389T Gotlib, J. R., 1017W Goto, J., 52, 233, 2409W, 2569T Goto, S., 52 Goto, Y., 234, 1722W Gotoh, L., 234 Gotta, L., 2520W Gottipati, S., 183 Gottlieb, B., 398* Gottschalk, W., 2465F Götz, A., 327 Goubran-Botros, H., 259 Goudefroye, G., 77 Goudet, P., 1293T Goudy, S., 2762T Gougerot-Pocidalo, M.-A., 2716W Gould, D. B., 1689T, 2684T Gould, E., 3724W Goulet, J.-P., 2266T, 3268F, 3341W Goumy, C., 894T Gourraud, P., 2113T, 3330T* Gourraud, P.-A., 2039F, 2049W, 2350T Gouttard, S., 2529W Gouveia, M., 3325F Gouya, L., 56 Govi, M., 1776W Govil, M., 1315F*, 2178W Gowda, H., 3316F Gowher, A., 329 Gowrisankar, S., 1754W Goyal, S., 1891T, 2730F*, 3696W Goyette, P., 1678T, 2319W* Graber, E., 3033T Grabowska, E., 2587T Grabowski, G., 789W Grabowski, G. A., 161, 690T, 736T, 749F Grabs, R., 5 Grace, N. M., 1625T Gracia, G., 1876F Grad, I., 67 Grad, R., 1852F Grady, W., 144 Graetz, C., 2058W Graf, E., 699F, 2557T, 2567F, 2595W, 2917W, 2922F Graf, J., 200 Grafe, I., 2854W Graff, M., 1467T, 1913F Graff-Radford, N., 343 Grafodatskaya, D., 3420T, 3456T*, 3489T Graham, B., 661F, 676T*, 2395T, 2942T Graham, B. H., 667F Graham, J. M., Jr., 3185W Graham, M., 3331F Graham, R., 306, 342 Graham, R. R., 2091W Grahn, R. A., 3252T Grallert, H., 2116T, 2595W, 3536W Granberg, C., 2845W Grandchamp, B., 29, 56, 1062W Granell, R., 2167T Grangeiro, C. H. P., 941W, 2813T Grant, G., 290, 1919F Grant, R., 118, 3142F Grant, R. W., 2140T Grant, S., 2067W, 2121W, 2229W, 2252F Grant, S. F. A., 812F, 1307W*, 1915T, 1997F Grarup, N., 2311T, 2317T*, 2347T Grasshoff, U., 3109W Gratacòs, M., 2303F, 2593T Grattau, Y., 84 Graubert, T., 1203W Graubert, T. A., 301, 1408F Graul-Neumann, L., 2760F Gravel, S., 3352F*, 3360T, 3361F, 3380W, 3390T, 3563F Graves, T., 375, 464W, 465F Graves, T. A., 3296W Gravitt, P., 1076F Gray, J. J., 308 Gray, J. W., 984W Greally, M. T., 100 Greco, D., 100, 1265F, 3631F* Greco, F., 1776W Greely, H., Session 20 Green, D., 3688W Green, E., 3306T Green, J., 1066T, 1084T Green, M. R., 1042T Green, R. C., Session 73, 317, 343, 1781W, 1825W*, 2488T, 3635F Green, T., 1454W Greenawalt, D., 1624T Greenberg, K., 1859F Greenberg, M. E., 452W, 2613W Greenberg, S. M., 1689T Greenblatt, M. S., Session 4 Greene, A. M., 1269W Greene, C. S., 1501F Greene, M. H., 210, 213 Green Snyder, L., 2439W Greenspan, B., 3377W Greenspan, E., 3377W Greenwood, C., 1411F Greenwood, J., 1791W* Greer, D., 480W Greer, S. N., 1046F Greer, T., 876T*, 3154F* Greger, V., 1729W, 3640W, 3680W Gregersen, N., 657F Gregersen, P., 461F Gregersen, P. K., 306 Gregor, A., 2666T Gregory, B., 1642T, 3551F Gregory, B. L., 500W* Gregory, P. D., 255, 803W Gregory, S., 1919F, 3541F Gregory, S. G., 1444F, 1636T, 2340W, 2454W* Gregoski, M., 1715T Greisenegger, S., 1603T Grenier, J.-C., 31, 2266T, 3268F, 3341W Grenier, J. C., 3260W Grether, J., 7 Grether, P., 875W, 928T, 956T, 960T Gretz, N., 1612T Gribaa, M., 1751W, 2744T Gribaldo, L., 1877F Gribble, S., 101, 291 Grice, D. M., 916T Griebel, T., 567F, 582W Griesi Oliveira, K., 2414F* Griffen, C., 1010F Griffin, H., 751F Griffith, S., 3644W, 3716W, 3731F Griffiths, C. E. M., 154 Griffiths, L. R., 1042T, 1912T*, 2916F Grigorenko, E., 334 Grill, D. E., 1426F Grillo, E., 2604W Grimaldi, L., 2095T Grimholt, R. M., 643T Grinberg, L. T., 919W Grindle, S., 1665T Grioni, S., 1712T Gripp, K. W., 124 Grisart, B., 3098F Griskevicius, L., 1208F Griswold, A. J., 2445W, 2572T*, 2614T Griswold, B., 1663T Griswold, B. F., 3231W Grochowski, C., 2316W Grocock, R., 1238F, 3663F Grocock, R. J., 366 Grody, W. W., 130, 315 Groen, J. L., 200 Groen-Blokhuis, M., 2097W Groenendaal, F., 3164F Groeneveld, M. P., 33 Groessner-Schreiber, B., 2058W Grof, P., 2338T Groffen, A., 98 Groffen, S., 3200F Grohé, C., 2103W Gronberg, H., 205, 1148F Grønskov, K., 363* *Presenting Author

363 SPEAKER AND AUTHOR INDEX 361 Groom, A., 3455T Groop, L., 47, 2187W Groop, P.-H., 2307W Gropman, A., 239 Gropman, A. L., 330 Gros, P., 649T Gross, M. D., 2337W Gross, N., 2568W Gross, V., 2447F Grossfeld, P., 870T Grossman, R., 176, 1513F Grossman, T. R., 804W* Grossse-Wortmann, L., 3186F Groth, J., 3242F Grotmol, T., 991T Grove, M. L., 1445W* Grover, M., 3209W Groves, A. K., 840F Grozeva, D., 2576F GRS Team, 983F Grubb, J., 786W Grubb, R., 1012T Grubert, F., 371, 551F*, 3411W, 3505T Gruen, J. R., 1973F, 2010W Grumbt, B., 3539F Grummel, V., 2086T Grundberg, E., 44, 583F, 3441T* Grunenwald, H., 3697F Grünewald, A., 200, 204, 672T Grunewald, J., 2103W Grünfeld, T., 3614W Grunstad, J., 176, 1513F Grydholt, J., 3641F, 3662W Gschwind, A., 415F GTEx Consortium, 368 Gu, C. C., 1468F Gu, D., 116*, 2259W Gu, J., 2721F Gu, M., 2819T* Gu, Q., 3168F Gu, S., 3491T* Gu, Z., 3309T Guadalupe, M., 3669F Guan, M. X., 1628T* Guan, T., 457F Guan, W., 1428T*, 1665T Guan, Y., 1482T* Guan, Z., 457F, 2623T* Guarrera, S., 1153T, 1712T Guaschino, C., 2095T Guaschino, R., 1153T Guauque-Olarte, S., 1655T* Gucev, Z., 33, 845F Guchelaar, H. J., 243 Gudjonsson, J. E., 154 Guedalia, J., 2993T Guedet, M. M., 207 Guedj, F., 765W* Guekunst, K., 1251W Guella, I., 2459F*, 2469W, 3587F Guergueltcheva, V., 201, 2948T Guerra-Junior, G., 478W, 479F Guerreiro, J. F., 3292F Guerreiro, M., 2876T Guerreiro, M. M., 2393F Guerrini, R., 889W Guethlein, L. A., 3710W Guettouche, T., 2185T, 3706W* Guevara-Aguirre, J., 2706F Guffanti, G., 435F* Guha, N., 3676W* Guha, S., 264 Gui, H., 21 Guia-Padilla, M. T., 1805W Guiblet, W., 3254W*, 3380W Guidobono, R., 685F Guidugli, L., 1219T* Guignoux, C. R., 3380W Guigo, R., 368, 567F, 582W Guigò, R., 506W Guild, C. S., 272 Guilherme, R. S., 3045W Guillaume, P., 619T Guillemyn, B., 2225F Guillen Ahlers, H., 1269W* Guilmatre, A., 469F* Guimiot, F., 77 Guiochon-Mantel, A., 894T Guion-Almeida, M., 2673F Guion-Almeida, M. L., 813F, 2746W Guipponi, M., 561F, 2685F, 2877F, 2937F Guitart, M., 2940F Gujral, M., 480W Gül, E., 3132F Gulab, S., 167 Gullerud, R. E., 1351F Gulsuner, S., 287*, 2600F, 2924T Gulsvik, A., 2057F, 2249F Gulzar, Z., 1167W Gun, I., 1801W Gunawardena, S., 1214F Gunawardena, S. R., 1206W* Gunderson, K., 3695F Gunderson, K. L., 3710W Gunduz, C., 1025F, 1106F, 1164W, 1166F, 1178F Gündüz, C., 1172F* Gunel, M., 1201T, 2924T Günel, M., 3132F Gunning, P. W., 410, 2662W, 2796F Gunter, C., Session 81 Guo, D., 1789W Guo, D. C., 1743W Guo, D. E., 589F Guo, G., 3553F Guo, H., 453F, 2251T, 3139W Guo, J., 457F, 1974W*, 2623T Guo, L., 2721F Guo, M., 3168F* Guo, S., 1681T, 1957T Guo, S. C., 3416T* Guo, T., 1494T, 1658T Guo, W., 1559W*, 1659T, 2819T Guo, X., 1916F Guo, Y., 1004F, 1606T*, 1659T, 2121W, 3660W*, 3682W, 3724W* Guo, Y. W., 1110W Gupta, D., 2739F* Gupta, K. K., 2293T Gupta, M., 607T* Gupta, N., 918T, 1490W, 1677T Gupta, S., 2803W Gupta, V., 2739F, 3455T Gupta Hinch, A., 3360T Gur, R. C., 2382W, 2514W, 2546F, 2589W, 2651F Gur, R. E., 2382W, 2514W, 2546F, 2589W, 2651F Guralnik, J. M., 2148W Guran, S., 1136F, 2881W Gurdasani, D., 1507F*, 3412T Gurkan, A. M., 2329T Gurnett, C. A., 220, 2860W Guru, K., 3428T Gurusiddappa, S., 134 Guruvadoo, L., 3557F Guryev, V., 459F, 3608W Gus, R., 879W Guse, K., 795W Gusella, J., 2562W Gusella, J. F., 68, 70, 82, 103, 554W, 1964F, 2643W Gusella, J. S., 2458T Gusev, A., 89, 350, 1320T, 1577W* Gusmao, L., 3364F Gusmão, L., 3402T Gustaffsson, S., 108 Gustafsson, M., 3427T Gustafsson, S., 117, 2070W*, 2076W, 2090F, 2241W Gustavsson, P., 3245W Gut, I., 54, 567F, 582W, 2303F, 2326T Gut, M., 2303F, 2326T Gutenkunst, R. N., 3354T Guthery, S., 195 Guthridge, J. M., 549F, 566W Gutiérrez, A., 1111T, 1127F Gutierrez, D., 3125W Gutíerrez, I. A., 1077W* Gutiérrez, J., 2365T Gutierrez, K. S., 2106W* Gutiérrez, O., 2365T Gutierrez, S., 1798F Gutierrez-Achury, J., 155*, 1330F Gutiérrez-Aguirre, H., 1030T Gutierrez-Arcelus, M., 415F, 561F Gutin, N., 1021T Gutman, L., 2411F Guttman, M., 322 Guttmann, A., 142 Guxens, M., 2097W Guy, C., 531F, 1212W Guy, T., 400 Guyant-Maréchal, L., 345 Guymer, R., 1911W Guyot, M. C., 850F Guzeldemir, E., 2058W Guzman, E., 3695F Guzman, M., 695F, 924T Guzman, M. A., 785W Guzman, M. L., 1658T, 2065T Gwirtzman, H. E., 2637W Gyapay, G., 2820F Gylfe, A., 997T Gyllensten, U., 2366F Gymrek, M., 333*, 1797W H Ha, T., 493F Haab, B. B., 1186T Haack, T. B., 699F, 2917W* Haaf, T., 849F, 3266W Haagmans, M., 1616T Haagmans, M. A., 197, 681F Haan, E. A., 978T Haas, B. E., 2256W Haas, J., 2143T Haas, R., 534W Haase, V. G., 2434T Habashi, J. P., 240* Habegger, L., 41, 280, 551F, 3251W Habekost, C., 2825T Haber, B. A., 2316W Haber, M., 3349F, 3387T* Haberberger, B., 699F Haberberger, B. M., 782W* Haberkorn, M. J., 1649T Habibian, R., 962T Habibul, A., 1638T Hacia, J., 722T Hack, L. M., 2504F* Hacker, D., 415F Hackett, N. R., 2933T, 3399W Hackmann, K., 1236W, 3224F Hacohen, N., 528W Haddad, G., 3307F Haddad, M., 791W* Haddad, M. R., 2457W Hadjidekova, S., 3477T Hadjidekova, S. P., 923W* Hadjixenofontos, A., 270, 2039F*, 2049W Hadj-Rabia, S., 128, 3140F* Hadley, D., 845F, 2067W*, 2492F, 2872W Hadzhidekova, S., 3481T HaemGen Consortium, 383 HaemGen RBC Consortium, 110 Haerian, B., 1113W* Haerian, M., 1113W Haertter, S., 617T Haessler, J., 1925F Haga, S. B., 147* Hageman, G. S., Session 7 Hagenah, J., 200 Hager, J., 1640T, 2278T* SPEAKER AND AUTHOR INDEX *Presenting Author

364 362 SPEAKER AND AUTHOR INDEX Hagerman, P., 477F* Hagerman, P. J., 2632T, 2633F, 2634W Hagerman, R., 770W* Hagg, S., 2175W Hägg, S., 119, 1308T, 2074T*, 2076W, 2137T, 2358W Haggerty, A. A., 968T Haghighatfard, A., 1718W* Haghighi, A., 2787F*, 2787F, 2832F, 2856F, 3163W Haghighi-Kakhki, H., 2832F*, 2856F Hagiwara, M., 781W Hagnefelt, B., 2902W Hagos, S., 2743W Hahn, A., 2948T Hahn, A. F., 201, 3215W Hahn, A. F. G., 2779W Hahn, S., 688T, 1787W, 1853F*, 2330F Hahn, S. E., 1834F Haider, M., 2267F* Haigis, R., 1176W, 3686W, 3695F Haile, R. W., 141, 1067F, 1079F, 1206W Hailing, J., 2037W Haiman, C., 205, 356, 1324F, 1608T, 2131T Haiman, C. A., 48, 1148F, 1150T, 2042F, 2202W Haimes, E., 1803W Hainaut, P., 1102T Haines, J., 1566T, 2041T, 2135F Haines, J. L., 9, 15, 270, 343, 344, 347, 1286W, 1447F, 1476T, 1489F, 1571W, 1671T, 1887W, 2028W, 2154W, 2240F, 2263T, 2299T, 2318F, 2445W, 2498F, 2508W, 2572T, 2583W, 2586W, 2614T, 2637W, 3275W, 3335W Hains, D., 450W, 458W Hajianpour, A., 962T Hajjar, R. J., 1698T Hajkova, Z., 752T Hakeman, M., 419F Hakenberg, J., 242, 3580W Hakim, S., 1691T Hakker, I., 2587T Hakonarson, H., 319, 812F, 845F, 1307W, 1606T, 1915T, 1996T, 1997F, 2067W, 2121W, 2229W, 2252F, 2389T, 2492F, 2514W, 2546F, 2592W, 2722W, 2785W, 2856F, 2872W, 2892F, 2904F, 3546W, 3561F, 3573F Hakonarson, H. H., 1992W, 2443T Halbach, P., 2830W Halban, P. A., 556W Halbritter, J., 406, 2850F Halder, I., 1647T, 2083T* Haldin, C., 520W Hale, P., 2136W Haley, C., 1383T Haley, K., 811F Halim, S., 1011W Halime, S., 1402F Hall, A. L., 2403W Hall, I. M., 436W* Hall, J., 2257T* Hall, J. L., 1665T* Hall, K., 343, 3663F, 3694W* Hall, K. P., 366 Hall, M. A., 1316W* Hall, P., 206, 208, 1150T, 2108F, 2155T Hall, R. P., 906T Hall, S., 642T Hallam, S., 1729W Haller, G., 2598W* Haller, T., 1792W, 3353W* Hallgrímsdóttir, I., 2311T Hallgrimsson, B., 4 Halligan, B., 587F Halligan, G., 924T Hallmayer, J., 2479T Halme, L., 2023T Halperin, E., 180, 3360T, 3623F* Halprein, E., 1797W Halushka, M. K., 305 Halvardson, J., 3728W Hamada, H., 1631T Hämäläinen, E., 2348F, 2898F Hamamoto, K., 1631T Hamamy, H., 2937F Hambleton, I. R., 1906T Hamdan, F., 2306F Hamdan, F. F., 2692W, 2790F Hamdy, F., 1011W Hamdy, F. C., 1148F Hamel, B. C., 125 Hamel, B. C. J., 102 Hamel, C., 390, 2679F Hamel, N., 1262F Hamet, P., 2994T Hamid, M., 679F*, 2714T Hamidovic, A., 2269T Hamilton, C. M., 1566T* Hamilton, K., 2586W*, 2637W Hamilton, K. L., 344, 2498F, 2583W Hamilton, R. M., 1678T Hamilton, S., 491F Hamilton, S. P., 2517W Hamman, R. F., 1672T, 1673T Hammann, A., 2716W Hammarström, L., 2091W Hammel, P., 1062W Hammer, M., 285 Hammer, M. F., 2788W, 3354T, 3377W, 3389W Hammer, R. R., 1849W Hämmerle, J. M., 2861T Hammerø, M., 3510T Hammet, F., 1213T Hammond, C. J., 335, 2068T, 2138F Hammond, J. A., 1566T Hammond, P., 218, 3088F Hamolsky, D., 1965W Hamosh, A., 227* Hampe, J., 580W* Hampel, H., 1173W* Hampson, S. C., 2800W Hampton, O., 3649F Hampton, T., 1698T Hamren, S., 2347T Hamsten, A., 115, 1651T Hamza, S., 507F Han, B., 39, 1337W, 1341T, 1480F*, 1657T, 3462T, 3555F, 3623F Han, B. J., 846F Han, E., 1535W* Han, J., 984W, 3461T Han, J. C., 2702T Han, K., 947W Han, K.-H., 2130W Han, L., 278, 1488T* Han, M., 2566T, 3223W Han, S., 1012T, 1243T*, 2497T* Han, S. S., 1378F* Han, X., 2623T Han, X.-Y., 1218W Han, Y., 1757W, 2934F, 3008T Han, Y. Y., 3449T Hanchard, N. A., 1646T, 2158T* Hancock, D., 2114F Hancock, D. B., 1566T, 2170T* Handberg, H., 3641F, 3662W Hande, M. P., 3034T Handel, A., 2015F* Handsaker, R., 322 Handsaker, R. E., 284, 437F*, 1519F Hanein, S., 324, 390, 522W Haney, M., 334, 579F, 3658W Hanis, C. L., 2192F Hanish, A. E., 2702T Hankerd, M., 885W Hankins, J. S., 2331W Hankinson, J., 2211W Hankinson, S., 2165F Hanks, S., 1211F Hanna, C. W., 2977T, 2986T* Hanna, G., 2430W* Hanna, G. L., 3447T Hanna, M., 1912T, 2581T Hanna, N., 56 Hannachi, H., 944T Hannan, G. N., 916T Hannan, M., 2052W Hannequin, D., 345 Hannick, L. I., 3332W Hänninen, S., 541F Hanscom, C., 68, 70 Hansen, L., 363, 2817F Hansen, M., 1445W Hansen, M. R., 2301W Hansen, N., 999W, 1159T, 1515T Hansen, N. F., 1690T Hansen, R., 2491T Hansen, R. S., 255 Hansen, T., 1624T, 2311T, 2317T, 2347T Hansikova, H., 752T Hanson, E., 299, 2439W Hanson, R., 584W, 1300F, 2038T* Hanson, R. L., 1953W, 2018F, 2124W Hansson, O., 47, 2187W Hantaï, D., 328 Hantash, F. M., 2260T Hao, H., 822F* Hao, K., 1369F*, 1624T, 2928F Hao, L., 1304W, 3345T Hao, T., 2660F Hao, Y., 116 Happe, S., 3459T, 3659F, 3669F, 3709F Hara, K., 2071T* Hara, T., 468W* Harafuji, N., 2961F Harakalova, M., 217, 672T, 2886F Harari, O., 340, 2228F* Harbin, S., 2430W Harbo, H., 2113T Harbord, R. M., 1626T Hardcastle, A. J., 3212F Hardeman, E. C., 410, 2662W, 2796F Harden, A., 940T Hardie, R., 3332W Hardin, J., 75 Hardin, M., 2057F* Harding, C. O., 774W Harding, S. P., 2072F Hardison, M., 314, 1742W Hardison, M. T., 677F* Hardison, R. C., 3545F Hardwick, J., 1369F Hardwick, R., 438W Hardy, J., 374, 564W, 2648F Hardy, O., 3659F Hardy, R., 2282F Hare, A., 2381F*, 2523W Harewood, L., 62, 299 Hariharan, M., 551F Häring, H., 1624T Harismendy, O., 395, 1051T Haritunians, T., 1445W, 1916F, 2153F Harkin, T. T., 1068W Harkins, T., 400, 494W, 1242W Harkins, T. T., 186, 1244F*, 2301W Härkönen, J., 496W Harks, I., 2058W Harlan, M., 1275W Harlan, W. R., 1566T Harley, J., 1901F Harley, J. B., 529F, 1979F, 2046W, 2084F, 2188T, 3371W *Presenting Author

365 SPEAKER AND AUTHOR INDEX 363 Harley, K., 3458T Härmä, M., 2462F Harman, E., 1166F Harmanci, A., 2444F Harney, L., 132 Haroutunian, V., 3471T Harper, J. I., 2102F Harper, S. M., 1756W Harper, U., 1302T Harries, L. W., 2148W Harrington, E., 483F, 2565W Harrington, E. D., 3617F* Harrington, P., 139 Harris, A., 509F, 3719F Harris, C., 2325W* Harris, D. J., 82 Harris, E., 630T Harris, H. R., 2077T Harris, J., 33, 503F Harris, J. R., 434W, 3510T Harris, K., 184 Harris, K. M., 1467T Harris, M., 969W Harris, P. C., 1909T Harris, R., 3545F Harris, T., 1338T, 2080T, 2561F Harris, T. B., 109, 2116T, 2145W, 2275T Harrison, B. W., 1821W Harrison, C., 32 Harrison, C. J., 1024T Harrison, L., 3494T Harrison, S., 2845W, 2846T* Harroche, A., 915W Harrow, I., 503F Harrow, J., 506W Harrow, J. L., 367 Harry, B., 315 Hart, D. J., 2292W Hart, E., 2098T Hart, P. S., 322 Hart, R. K., 3548W* Hart, R. P., 2433W Hart, S., 1219T Hartge, P., 1306F, 1372F, 1413T Hartikainen, J. M., 1114T*, 1125W Hartl, C., 172, 288 Hartley, J., 954T Hartley, J. N., 2422T Hartman, T. J., 1107W Hartmann, H., 756W Hartmann, L. C., 1238F Hartmannova, H., 752T Hartsfield, J., 2243F* Hartsfield Jr., J., 1147T Hartshorne, C., 145, 1810F Hartshorne, T., 1146W* Haruki, H., 2823F Harvard, C., 491F*, 517F Harvey, E., 3156F Harvey, H. S., 1849W Harvey, I., 1065W Harvey, K. A., 2155T Har-Zahav, A., 105 Hasan, Q., 1234T, 1893W Hasegawa, A., 3565F Hasegawa, I., 1321F Hasegawa, J., 2507F Hashemzadeh, M., 1143W, 1596T, 1739W, 2008T, 2013W Hashemzadeh Chaleshtori, M., 1421W, 2952F Hashiguchi, A., 2418W, 2601W, 2607W*, 2616W, 2823F Hashimoto, K., 627T, 963W Hashimoto, S., 456W, 912T Hashimoto, T., 2559W Hashimoto, Y., 2371T Hashmi, A., 8 Haskins, M., 1081T Haslag-Minoff, J., 1210T Hasler, R., 582W Häsler, R., 567F Haslett, L. J., 162 Haslett, P., 714T, 801W Hassan, A., 2408F Hassan, B., 133 Hassanali, N., 44 Hassed, S., 2834T Hassell, K., 725F Hassnan, Z., 2743W Hassold, T., 250 Hastie, N., 1383T Hastie, N. D., 2366F Hastings, P. J., 337 Hastings, R., 1874F Hata, A., 1631T Hata, K., 3499T Hatai, Y., 3091W Hatamnejadian, N., 1961F, 1962W, 2964F Hatamochi, A., 3230F Hattersley, A. T., 2704W, 3494T Hattori, N., 1730W, 2559W, 2619W, 3134F, 3221W Hattori, S., 2647T Hatzimanolis, A., 2573F* Hatzlhofer, B. L. D., 2718F Hauck, S., 3536W Haudenschild, C., 369, 1249T, 2372F Hauenstein, N., 2086T Haug, K. B. F., 643T Haugarvoll, K., 2451W* Hauge, C., 921W Haugen, E., 3459T Haugen, T. B., 991T Haughey, N. J., 658T Haukanes, B. I., 2451W Haukkala, A., 1835W Hauner, H., 3536W Haupt, B., 786W Hauptschein, R., 1369F Hause, R. J., Jr., 614T Hauser, E., 3 Hauser, E. R., 1444F, 1594T, 1636T Hauser, M., 3, 386, 531F, 2135F Hauser, M. A., 1887W, 2154W, 2240F, 2263T, 2946F Hauser, N., 876T Hauser, N. S., 2839W* Hauser, S., 2113T, 3330T Hauser, S. L., 270, 2299T Hausmann, L. D., 994T, 1405F Hausser, I., 2869W Haussler, D., 466W, 1229F, 3557F, 3612W Hautaniemi, S., 1117T Havas-Augustin, D., 1660T Haverfield, E., 2579F Havulinna, A. S., 1709T Hawes, A., 1742W Hawes, A. C., 314, 1735W, 1757W, 1761W Hawley, N. L., 2159F Haworth, C. M. A., 2164T Hawrylycz, M., 2444F Hawthorne, F., 521F Hawthorne, F. A., 3521T Hawwari, A., 3149W, 3155W* Hay, J., 1841W Hayano, T., 482W Hayasaka, K., 3136F Hayase, T., 1940F* Hayashi, S., 914T* Hayashi, Y. K., 755W, 2923W Hayden, K. E., 414W* Hayden, M. R., 265 Hayeck, T., 1360F Hayeems, R., 320, 1872F*, 1873F Hayeems, R. Z., 142, 1824F Hayes, J., 3054F, 3089W Hayes, L., 3076F Hayes, M., 2098T Hayes, M. G., 618T, 1447F, 2036F, 3323W Hayes, V. M., 1085F, 3332W Hayflick, S. J., Session 10 Haynes, C., 1444F, 1594T, 1636T, 3541F Hayward, C., 1383T, 2072F Hayward, N. K., 212 Hazan, F., 1106F, 3206F Hazlehurst, J., 3211W Hazra, A., 1073F Hazucha, M., 2851W He, C., 1098W, 1969T*, 3483T He, G., 1174T He, J., 1324F*, 1465F He, J. B., 1259F He, L., 654T, 1174T*, 2419T He, L.-J., 1218W He, M., 1758W, 3300T, 3553F He, P., 1758W He, Q., 1434T* He, W., 503F, 2804T He, X., 722T, 864T, 1144T, 1433W*, 2246F He, Y., 3308W, 3656W He, Z., 93* Headland, C., 3331F Healey, C. S., 209 Healy, E., 303 Healy, J., 31, 394, 1207T*, 1215W, 3700W Heanue, T., 308 Heard-Costa, N., 2030F*, 2123F, 2337W Heath, A. C., 2056T, 2212T Heath, G., 1238F Heath, S., 2303F Heaton, W. H., 3529F Heba, T., 831F* Hebbar, P., 3369T Hebbring, S., 2297F* Hebbring, S. J., 3326W Hebert, A. M., 693F* Hebert, J. M., 633T, 635T Hebert, L., 458W Hebson, C., 1679T Hecht, J., 298, 1908W*, 2325W Heckbert, S. R., 1585T Heckenlively, J., 2135F Heckenlively, J. R., 2183F, 3234F Heckerman, D., 1379W*, 3468T Heckman, L., 2807T* Hedera, P., 2438F Hedges, D., 524W, 2330F, 3706W Hedges, D. J., 9, 270, 2572T, 2614T, 3390T Hedley, P. L., 2699T Hedman, A., 583F Hedman, A. K., 44*, 2187W, 3441T Heesen, L., 236 Heffelfinger, C., 551F, 3313F* Heffner, L., 3026T Heffron, T., 3582W Hefner, K. S., 529F, 2188T Hegde, M., Session 3, 66 Hegde, M. R., 1758W Hegele, R., 1688T Hegele, R. A., 2800W Hegele, R. G., 1465F Heguy, A., 998F Hehir-Kwa, J., 979W Hehir-Kwa, J. Y., 100, 459F, 955W Heid, I., Session 7 Heid, I. M., 1954T, 2123F, 2147F Heidari, N., 416W* Heide, H., 782W Heide, S., 890T Heijmans, B. T., 1436W Heikkilä, P., 1171T, 1265F Heikkinen, T., 1006T*, 1117T, 1171T, 1265F Heil, S., 853F, 2300F Heilbuth, T. R., 1902W Heilmann, S., 106* Heim, K., 275*, 584W, 782W Heiman, G. A., 261, 2433W, 2602T* Heimdal, K., 129 Heimer, G., 660T Hein, A.-M., 3641F Heinrich, J., 2167T, 2168F, 2226W Heinrich, J. K., 1033T Heinzen, E. L., 203, 266 Heise, E., 1853F SPEAKER AND AUTHOR INDEX *Presenting Author

366 364 SPEAKER AND AUTHOR INDEX Heiss, G., 174, 1437T, 1661T, 2041T Heit, J., 1497T* Heit, J. A., 1375F Heitmann, M., 3496T Heitzer, E., 1063T, 1115F* Hekimgil, M., 1025F Helderman-van den Enden, A. T. J. M., 1711T Helen, R., 2812W Helfmann, S., 59 Hellebrekers, D. M. E. I., 2996T* Hellenthal, G., 181 Heller, R., 236, 2944W Hellin, A.-C., 925W Helliwell, T., 33 Hellwege, J. N., 1888T* Helms, C., 1952F Helwi, P., 841F Helzlsouer, K. J., 1822F Hem, V., 1762W Hemani, G., 1394W Hemmelmann, C., 200 Hemmer, B., 2086T Hemmrich-Stanisak, G., 2368T* Hempel, M., 2595W, 2917W Henders, A. K., 2133W Hendershot, L., 1847W Hendershot, T., 1566T Henderson, A., 126 Henderson, A. J., 2168F Henderson, B., 205, 1324F Henderson, B. E., 1148F, 2131T, 2202W Henderson, J., 1567F, 2102F, 2167T Henderson, S., 133 Henderson-MacLennan, N. K., 1658T, 2065T Hendricks, A., 1518T, 2304W* Hendrickx, A. T. M., 2996T Heneghan, M. A., 153 Heng, M. Y., 2423F* Hengstenberg, C., 3453T Hengstler, J., 1335T Henn, B., 3345T Henn, B. M., Session 6, 186, 371, 3361F, 3368W, 3385F, 3411W Hennah, W., 252 Henneberg, M., 3344W Hennekam, E. A. M., 431F Hennekam, R., 127, 2701W, 2759T Hennekam, R. C., 681F Hennekam, R. C. M., 216, 2886F Henneman, P., 228, 2107T*, 2116T Hennies, H. C., 2869W Hennis, A., 1003T Henrich, V. C., 107* Henrion, E., 1670T, 2342F, 2558F Henrion Caude, A., 522W* Henrique, H., 1108T Henry, C., 259 Henry, P. G., 2539T Hentati, F., 2537F Heppe, D. H. M., 1334W, 2169W Herder, C., 275 Heredia, N., 3690W Herman, D. S., 1677T Herman, G., 456W Herman, S., 1494T Hermann, M., 2581T Hermannsson, L., 3573F Hermansson, M., 541F Hermetz, K. E., 66 Herms, S., 420W*, 1005W, 3550W Hernaez, R., 2275T Hernandez, B. G., 988T* Hernandez, D. G., 564W, 2148W Hernandez, K. N., 707F Hernandez, N., 415F, 2377T* Hernandez, P., 1646T Hernandez, R., Session 6, 589F Hernandez, R. D., 158 Hernandez, W., 40 Hernandez-Escalante, V., 2272T Hernandez Fuentes, M., 2082W Hernandez-Fuentes, M. P., 2260T Hernández-García, A., 834F Hernández-Garcia, A., 839F* Hernández-Hernández, O., 3124F, 3226F Hernández-Zamora, E., 3125W Hernesniemi, J., 1253F Herold, C., 106, 1332T* Heron, D., 127, 889W, 2770W Héron, D., 131, 3157W Heron, S. E., 2741T* Herrera, P., 1119W Herrera, V., 1714T Herrera-Sanchez, F., 2272T Herring, J. A., 221, 1359T Herrington, D., 1661T Herrmann, A., 580W Herrmann, R., 2681T, 2812W Hersh, C. P., 2249F Hershberger, R., 1681T Hershey, G., 578W Hershman, D. L., 1255T Hershman, S. G., 326 Hertecant, J., 2740W Hertz-Picciotto, I., 2491T Hervás, A., 2578T Herzenberg, J. E., 2860W Herzfeld, T., 2416T Herzog, E., 72 Hesselson, S., 112, 421F, 2140T, 2513F, 3342T, 3383W Hesselson, S. E., 118 Hessl, D., 770W Hester, J., 2332T* Hester, J. M., 2310W Hestholm, B., 2965W Hetland, M., 621T Hetmanski, J. B., 1425T, 1472W, 1512T Hetrick, K., 2556W, 3644W, 3716W Hetrick, K. N., 1448W Hettige, N., 2408F Heuberger, A., 1189T Heulens, I., 2527T Heuzé, Y., 2151W Hevroni, D., 3656W, 3703F Hewitt, A. W., 2068T Hewitt, S. M., 1092W Hewson, S., 717F Heydari Sodejani, S., 2013W* Heydari Sodjani, S., 1596T* Heyer, C. M., 1909T Heyman, M., 1035W, 1126T Hiatt, J., 10 Hibaoui, Y., 67* Hibar, D. P., 2054F Hibbard, M., 1032W Hibberd, M., 429F Hiber, M., 392 Hibino, H., 2370W Hickerton, C., 143 Hickey, F., 1847W Hickey, L., 477F Hickey, P., 2741T Hickey, S., 456W Hickman, M., 1567F Hicks, A. A., 86, 110 Hicks, C., 1116W* Hicks, D. J., 136 Hicks, J., 2854W Hicks, J. E., 2378F* Hicks, M., 1649T Hicks, M. D., 2702T* Hicks, P., 2332T Hicks, P. J., 1661T, 2310W Hicks, S., 1798F, 3549F* Hidalgo, A., 1030T Hidalgo-Miranda, A., 1129T Hiekkala, M. E., 2348F* Hiekkalinna, T., 1563T*, 2208W, 2399F Hiemenga, J., 3037W* Hiene, A., 3662W Higasa, K., 2409W, 2569T Higashi, K., 2601W Higashimoto, K., 3432T, 3519T Higgins, A., 1494T Higgins, A. W., 82 Higgs, D. R., 418W Higgs, J., 330 Higgs, R. H., 1235F High, K., Session 23 Highland, H. M., 169, 269*, 2192F Highnam, G., 469F Hightower, R. C., 1661T Higuchi, I., 2601W Higuchi, Y., 2418W, 2601W, 2607W, 2616W* Hilal, S., 930T Hilbers, F. M., 1213T Hilbers, F. S., 27* Hilbert, P., 3181W, 3216F Hildebrand, M., 2867T Hildebrand, M. S., 60, 3228F* Hildebrandt, F., 406 Hildebrandt, J., 3717F Hildebrandt, L. L., 2699T Hildebrandt, M. A. T., 213 Hill, A., 266 Hill, A. V., 2157W Hill, A. V. S., 1948T Hill, D. A., 132 Hill, D. E., 2660F Hill, D. P., 1339F Hill, H. R., 495F, 2720T Hill, M., 3018T Hill, R. S., 8, 266, 452W, 2613W Hillier, L., 2320T Hillmer, A. M., 106, 3047W Hills, L. B., 266 Hilton, C., 2139W Himes, B., 2166W Himes, B. E., 622T, 625T, 638T* Himmelstein, D. S., 1501F* Hinckley, J., 1889F* Hindorff, L., 1608T Hindorff, L. A., 1845W, 1925F, 2042F, 2108F*, 2155T Hinds, D., 106, 2161T Hinds, D. A., 114, 498W, 1017W*, 2089T, 2100W, 2115W Hinek, A., 3186F Hingorani, A., 1621T Hinrichs, A., 2582F, 3557F Hinzpeter, A., 572W* Hip-Ki, E., 2266T, 3268F, 3341W Hippolyte, L., 62, 299 Hira, G., 100 Hirai, H., 468W Hirai, Y., 468W Hiraki, L. T., 191* Hirakiyama, A., 2911W Hirankarn, N., 2006F, 2064W Hirano, A., 2174F Hirasawa, T., 2835F Hirata, M., 1593T Hirbo, J., 3303T, 3338W Hirota, T., 2294F* Hirschhorn, J., 350, 2210F, 3413W Hirschhorn, J. N., 23, 108, 1677T, 1906T, 1954T, 1960T, 2090F, 2123F, 2131T, 2147F, 2241W, 2307W, 2364W, 3525T Hirte, H., 1824F Hirv, K., 3539F Hishimoto, A., 2380T Hitayezu, J., 3104F Hitchen, J., 3668W, 3721F Hitomi, Y., 53, 2455T* Hitz, B. C., 3612W Hixson, J. E., 1932W *Presenting Author

367 SPEAKER AND AUTHOR INDEX 365 Hixson, P., 893W, 898T, 952T Hixson, R., 1309F Hjalgrim, H., 1934F, 2055W Hjermind, L. E., 2765T Hjorthaug, H. S., 3510T Ho, A., 2480F Ho, B. C., 422W Ho, C. K., 2238W* Ho, G., 2795T Ho, J., 2279F, 2280W Ho, L.-T., 1955F Ho, P., 2160W Ho, P. C., 3000T Ho, V., 1238F Hoal, E., 2217W, 3385F Hoal, E. G., 2003F, 2007W Hoang, N., 1872F, 1873F* Hoang, V., 1691T Hoather, T. M., 1105T Hobbs, C. A., 1459F Hobel, S., 3587F Hobson, G., 2664F* Hobson, G. M., 2793F Hochreiter, S., 95, 1483F*, 1486F, 2374T Hocking, T. A., 978T Hodge, J. C., 103, 1145F*, 2575T Hodges, K., 853F Hodges, S., 3690W Hodgkinson, A., 2266T, 3268F*, 3341W Hodgkinson, C. A., 2574W Hodgkinson, K. A., 454W Hodgkiss, D., 503F Hodgson-Jensen, L., 1093T Hoefsloot, E. H., 58 Hoefsloot, L., 65, 1874F Hoefsloot, L. H., 2925F Hoeijmakers, J. G. J., 2448W Hoekstra, P. J., 2602T Hoen, P., 582W Hoffman, C., 660T Hoffman, D., 3582W Hoffman, E., 3249W Hoffman, G. E., 357, 1355W* Hoffman, J., 907W, 1729W* Hoffman, J. D., 1286W* Hoffman, R., 458W Hoffman, R. D., 3275W Hoffman, T., 421F, 1741W*, 3383W Hoffman, T. J., 246 Hoffmann, C., 3536W Hoffmann, D., 3500T Hoffmann, E. M., 1115F Hoffmann, G. F., 699F Hoffmann, P., 420W, 1005W, 3550W* Hoffmann, R. G., 1475W* Hoffmann, S., 1612T Hoffmann, T., 112, 2513F, 3342T Hoffmann, T. J., 7, 118*, 1250F, 1475W, 2140T Hofker, M. H., 523F Höfler, G., 1115F Hofman, A., 87, 584W, 1284T, 1334W, 1503T, 2081F, 2105F, 2169W Hofman, N., 1616T Hofman, O., 356 Hofmann, A., 2416T Hofmann, K., 105 Hofmann, N., 2330F Hofmann, S., 2103W Hogan, N. S., 1822F Högel, J., 939W Hogenesh, J., 2592W Hogg, C., 809F Hogg, G., 2973T*, 3023T Hogg, K., 645T, 3429T* Hoggart, C., 1387F, 1528F Högl, B., 2567F, 2568W Högler, W., 2864T Hoglund, B. N., 3713F* Hogue, W. R., 2854W Hohjoh, H., 799W Hohmann, J., 2444F Höhne, K., 2103W Höhne, W., 2759T, 2861T Hoiness, R., 1736W Hoischen, A., 97, 124, 125, 216 Hojati, Z., 892T Hokanson, J. E., 1672T, 1673T, 2249F, 2346W Hokken-Koelega, A., 2701W Hokonohara, T., 2400W Hokynar, K., 541F* Holcomb, C. L., 3713F Holcomb, K., 1272W Holden, K., 3171W Holden, K. R., 2826F Holden, S., 83 Holder, A. M., 834F Holder, M., 126 Holder, S. E., 298, 2925F Holder-Espinasse, M., 889W, 2896W, 3109W, 3172F Holinski-Feder, E., 758W, 1005W Hölker, I., 236 Holladay, J., 1021T Holland, N., 3458T Hollemon, D., 3020T Holley, T., 1186T Holliday, E. G., 2133W Holloway, A. K., 195 Holloway, L., 2806W Hollox, E., 438W*, 450W, 3325F Hollox, E. J., 449F, 2641T Holm, I., 921W* Holm, I. A., 1799W, 1836F*, 1843W Holman, K., 3167W Holmberg, R., 3011T Holmes, C., 235 Holmes, S., 2805F Holmfeldt, L., 31 Holohan, K. N., 2531F* Holstege, G., 494W Holstege, H., 494W* Holt, A., 407 Holt, R. A., 375 Holzinger, E., 1442W* Homan, E. P., 2854W* Homuth, G., 275, 2141F Honda, M., 2496W, 2656T Honda, Y., 2496W Honey, E. M., 131 Hong, C., 2117F Hong, D., 3479T Hong, E. L., 3612W* Hong, H., 1830F Hong, K., 2060F* Hong, K.-W., 1622T Hong, L., 2112W Hong, M., 551F, 1189T, 1990T, 2273F Hong, S., 2460W* Hong, X., 3026T Honig, L., 2547W Honig, L. S., 2093F, 2410T Honore Goltz, H., 1857F Honti, F., 445F Honzik, T., 752T Hood, L., 2643W Hood, L. E., 195 Hood, R. L., 131 Hood, S., 3267T Hoogenboom, J., 3611F Hoogerbrugge, N., 27, 1213T Hoogstraat, M., 400 Hooker, S., 93 Hooli, B., 2520W Hooper, A., 1680T Hooper, C., 1119W Hooper, W. C., 611T Hoos, M. B., 1711T Hoover-Fong, J., 227 Hopkin, J. M., 3466T, 3486T Hopkin, R., 789W Hopkins, P., 1875F Hopkins, T. J., 306 Hopp, K., 1909T* Hoppe, N., 1848W Hoppe, T., 105, 1939T Hoppel, C. L., 741F Hopper, J., 1492F Hopper, J. L., 141, 1067F, 1079F, 1206W, 1213T Hoppman-Chaney, N., 887W Hops, H., 642T Hor, H., 2326T* Horenstein, R. B., 602T Horike, S., 3497T*, 3498T Horikoshi, M., 119, 190, 1308T*, 1528F, 2076W, 2137T Horinek, A., 3437T Horita, H., 3136F Horjales-Araujo, E., 2369F* Hormozdiari, F., 3639F*, 3657F Horn, D., 298, 2595W Horn, F., 849F Horn, H. F., 2914W Hornemann, T., 758W Hornyak, M., 2568W Horovitz, D. D. G., 1877F Horpaopan, S., 1005W Horsburgh, K. A., 3333T Horst, B., 3319F Horst, D., 3319F Horst, J., 126, 3319F* Horst, J. A., 813F Horsthemke, B., 392, 3496T, 3500T, 3524T Horvath, A., 1151F Horvath, G., 750T Horvath, R., 751F Horvath, S., 2256W, 2444F, 2479T, 2553W, 2661W, 3474T Hoseinpour Pheysi, A., 779W Hosen, M. J., 833F*, 1790W, 3137W Hoskins, J., 1199F Hoskins, L., 1064F Hosoda, F., 396 Hosokawa, M., 2174F Hosoki, K., 3056F* Hosomichi, K., 482W* Hosono, N., 396, 2174F Hosoya, T., 663F Hosseini, M., 1175F* Hosseini, R., 407 Hosseini, S. M., 2109W* Hosseinipanah, M., 860T Hostetter, G., 1186T Hotate, M., 3091W Hotte, S., 1824F Hotte, S. J., 135 Hottenga, J. J., 2175W Hou, C., 1996T, 2121W Hou, L., 189*, 2622W* Hou, X., 1662T, 1971W Houdayer, C., 1205F Houldcroft, C., 2163W* Houlden, H., 2581T Houlston, R., 1072T, 1531F, 2580W Hourlier, T., 506W Housawi, Y., 2785W, 2892F Houseman, E. A., 3629F Houshmand, M., 1056W, 1124F, 1175F, 2367W, 2976T, 3197W Housley, G. D., 2662W Houston, G. D., 529F, 2188T Houwing-Duistermaat, J. J., 2035T Hovanes, K., 954T, 3054F Hovatta, I., 2110T*, 2175W, 2399F Hovatta, O., 807F Hovelson, D. H., 641T* Hoven, V., 2006F Hovingh, G. K., 1604T, 2205W Hovnik, T., 2688F*, 2710W Howald, C., 506W* Howard, A., 3100F Howard, E., 474W Howard, K., 2109W Howard, M., 538W, 2689W Howard, M. A., 2779W Howard, P., 122 Howard, T., 2143T Howard, T. A., 648T, 2331W Howell, S., 2158T, 2741T Howells, O. W., 262 SPEAKER AND AUTHOR INDEX *Presenting Author

368 366 SPEAKER AND AUTHOR INDEX Howerth, E., 2805F Howie, B., 88 Howson, J., 453F Hoyer, J., 3235W* Hoyme, H. E., 3076F Hozayen, S., 1665T Hozumi, Y., 1317T Hrabé de Angelis, M., 2922F Hrdlickova, B., 523F Hrdý, P., 2865F Hromatka, B. S., 2111F* Hruska, K., 2579F Hruska, K. A., 1661T Hsi, E., 516W* Hsiao, C., 989F*, 3485T Hsiao, C. L., 2245T, 3457T* Hsiao, G., 493F Hsieh, A., 1557T Hsieh, A. R., 1380T*, 2245T Hsieh, C. L., 1214F Hsieh, M., 2768T* Hsieh, P. H., 3354T* Hsieh, W., 3596W* Hsiung, C., 629T, 989F, 1608T Hsiung, C.-A., 1955F Hsiung, S., 3730W Hsu, C., 508W, 3678W* Hsu, C. F., 2768T Hsu, C. J., 2936T Hsu, C. N., 1439W, 1925F Hsu, E., 3644W Hsu, F. C., 123 Hsu, J., 163 Hsu, L., 1437T, 2268W*, 2337W Hsu, S., 493F, 2571W, 2606F Hsu, T. Y., 571F Hsu, Y., 945W, 953W Hsu, Y.-H., 1334W, 2052W* Hsueh, W. A., 1916F Hu, D., 158, 1075T, 1078T*, 1152W, 1576F, 2195F, 3303T Hu, F., 1357F, 2165F, 2354F Hu, F. B., 51 Hu, H., 29*, 195* Hu, H. H., 1062W Hu, H. J., 3607F Hu, J., 904T, 2418W, 3561F Hu, J. J., 2202W Hu, K., 1905W, 3293W Hu, L., 1249T Hu, M., 1004F Hu, N., 1010F, 1076F, 1218W Hu, O., 542W Hu, P., 1459F, 1508W* Hu, Q., 3428T Hu, R., 638T Hu, T., 1453F*, 2571W Hu, X., 1040F, 2250W, 3553F Hu, Y., 170, 1036T, 1231T, 1533T*, 1558F, 3355F*, 3551F* Hu, Y. J., 1437T* Hu, Z., 984W, 2617T Hua, X., 1511W Huang, A., 2779W, 3007T*, 3021T Huang, B., 962T Huang, C., 516W, 1381F*, 1894T, 2970T Huang, C.-C., 1666T* Huang, F.-Y., 2285F Huang, H., 241, 1403W, 1515T, 1579F*, 1886F, 3569F Huang, J., 116, 516W, 668T*, 1509T*, 2259W, 3604W Huang, J.-H., 2970T Huang, K., 537F, 1491T*, 1917W* Huang, L., 198, 575F, 651T, 701F, 1900T, 2800W Huang, M., 989F Huang, N., 43, 553F, 2982T Huang, Q., 673F, 1546F*, 1693T Huang, R. S., 623T Huang, S., 613T, 1472W, 2251T* Huang, S. W., 1586T Huang, T., 3467T Huang, W., 519F, 616T, 818F, 1945T, 2819T, 3493T, 3552W*, 3682W Huang, Y., 1662T*, 2181W*, 2237F*, 2251T, 2262W, 2320T, 2343W*, 2467T, 2523W, 2581T, 2849T, 3371W Huang, Y. A., 803W Hubbard, T., 367, 464W, 506W Hübenthal, M., 2368T Huber, C., 3129W Huber, J., 941W, 1037F, 1038W Huber, W., 551F Hubert, B., 2866W Hubert, C., 716T Hubert, P., 2674W Hubley, L., 1752W Hubley, R., 195, 3270T Hubner, N., 2102F Hucks, D., 136 Huda, M. S. B., 3211W Huddleston, J., 375, 3296W Hudgins, L., 869W, 2989T Hudson, A., 3442T, 3452T Hudson, B., 3622W Hudson, B. I., 1638T Hudson, M. S., 50 Hudson, T., 3478T Hudson, T. H., 1093T Hudson, T. J., 135 Hudspith, K., 2939T Huebner, C., 1868F* Huen, K., 3458T* Huentelman, M. J., 2104T, 3215W Huerta-Chagoya, A., 48 Huerta-Sanchez, E., 3300T* Huesca, F., 3125W Huet, F., 2716W, 2792T Huether, C., 1860F Huff, C., 385 Huff, C. D., 195, 3297T*, 3378T, 3633F Hüffmeier, U., 2160W Hufnagel, R. B., 3194F, 3212F* Huganir, R., 13, 2566T Huggins, G., 2083T Huggins, W., 1566T Hughes, A. E., 2843T* Hughes, D., 772W Hughes, J., 218 Hughes, K., 2974T Hughes, M., 78 Hughes, P., 529F, 2188T Hughes, T., 3510T, 3614W Hughes, T. M., 3275W Huh, I.-S., 269 Huh, R., 3462T Huh, W. J., 3395W Hui, K., 17 Hui, K. Y., 1320T* Huizing, M., 709F, 711F, 755W, 1702T, 2838F, 3080F Huizinga, T., 461F Hukema, R., 513F Hulick, P. J., 1225T Hůlková, H., 322 Hull, A. K., 1016F Hulme, W., 2603F, 3706W Hulme, W. F., 9, 341, 2318F, 2572T Hulshoff Pol, H. E., 2526W Hulsman, M., 1436W Hultén, M. A., 3032T Hultman, C., 290, 1325W, 2487W Hultman, C. M., 2576F, 2618F, 3442T, 3452T Humbert, M., 2690T Humbert, M. C., 323 Hume, S., 1052F Humphray, S., 366, 1238F, 3663F* Humphrey, M. B., 566W Humphreys, K., 1934F, 2055W Humphreys, M. K., 206 Humphreys, P., 701F, 2794W Humphries, C. E., 341* Humphries, S. E., 122 Hung, C., 655T, 1905W, 2392T Hung, C. Y., 297* Hung, I. H., 828F* Hung, S., 3708W Hung, T., 3700W Hung, Y.-R., 1955F Hunt, C. A., 262 Hunt, K. A., 155 Hunt, K. J., 1662T Hunt, L., 1713T Hunt, P., 250 Hunt, S., 1608T, 1653T, 3669F Hunter, D., 205, 2165F, 3413W Hunter, D. G., 2928F Hunter, D. J., 51, 1148F, 1150T, 1390F Hunter, E., 36 Hunter, J., 2063F Hunter, J. E., 3042F* Hunter, L. A., 2702T Hunter-Zinck, H., 3288T* Huntley, M., 1539T Huntsman, S., 158, 1075T, 1576F Huo, D., 1003T Huovari, E., 1006T Hurba, O., 2831T Hurd, L. M., 2855T* Hurd, T. W., 406 Hurle, B., 3306T Hurles, M., 43, 61, 101*, 252, 291, 364, 453F, 455F, 553F, 560W, 2576F, 2812W, 2982T Hurtado, M. L., 926T Hurtado-Hernandez, L., 1018T* Husain, S. A., 1278W Husami, A., 1764W Huse, K., 580W Husemoen, L., 2317T Husgafvel-Pursiainen, K., 2120F Husni, J., 2411F Huso, N., 79, 240 Huson, S. M., 33 Huss, M., 1976F Hussain, K., 2709F Hussain, N., 70, 856T Hussain, W. M., 1100F Hussein, S., 1031F Hussin, J., 31*, 2266T, 3260W, 3268F, 3341W Hussman, J. P., 2572T Hutchinson, A., 30, 1160F, 1218W Hutchinson, H., 136 Hutchinson, J., 1081T Huttner, A., 334 Hutton, H., 3303T Huyck, K. L., 2056T Huyghe, J. R., 46*, 1452T Huynh, M., 267 Huysseune, A., 833F Hveem, K., 1608T Hwa, V., 2706F Hwang, D., 2437T Hwang, H., 1590T Hwang, J.-H., 2119T Hwang, K. B., 3635F Hwang, S., 1653T* Hwang, S. J., 3673F Hwang, Y., 2437T, 3223W Hwang, Y. S., 3180F Hwu, C.-M., 1955F* Hwu, W.-L., 683F Hwu, W. L., 706T Hyde, C., 503F Hyde, C. L., 2804T Hyde, T., 2444F Hyland, F., 1232F, 3670W, 3717F Hyland, P. L., 1010F* *Presenting Author

369 SPEAKER AND AUTHOR INDEX 367 Hyppönen, E., 271, 2097W Hysi, P. G., 335*, 2068T Hytonen, M. K., 2517W Iaconis, D., 2810T Iacono, W., 1568W Iacovelli, A. J., 2928F Iacoviello, L., 1712T Iakoucheva, L., 480W Iakoucheva, L. M., 2660F Ialongo, N., 2541W Ianakiev, P., 3529F Iannaccone, A., 1060T Ianni, B., 1593T Iannuzzi, M. C., 1895F Iba, Y., 2697F Ibarra, B., 2363F IBC BP Consortium, 1659T IBC-Lipids Consortium, 1606T Ibrahim, J., 768W, 769W* Ibrahim, M., 3303T, 3338W Ibrahim, S., 167 Ice, J. A., 529F*, 2084F, 2188T Ichida, K., 663F Ichihara, Y., 2923W Ichikawa, M., 233 Ichikawa, N., 2032T Ichikawa, Y., 52, 2409W Ickstadt, K., 1335T ICPCG, 1080W Ida, K., 2891T, 3051W Idaghdour, Y., 31, 2266T*, 3260W, 3268F, 3341W Ide, W. T. S. T., 2394W, 2876T Idiyatullin, D., 821F Idoni, B., 2857W Ieiri, I., 641T IFAR Collaboration Team, 1069T Iglesias, A., 3046F Ignatius, J., 897W Igo, R. P., Jr., 1295W, 2020T Iguchi, Y., 2472W Iida, M., 2174F Iijima, H., 1980W Iijima, K., 729F, 781W Iijima, M., 627T Iio, K., 3043W Ikari, K., 2004W, 2287T Ikeda, K., 2507F Ikeda, M., 264, 2576F Ikeda, Y., 2129F Ikegami, M., 3105W Ikemura, M., 52 Ikesaki, A., 2656T Ikezawa, Z., 627T Ikram, M. A., 1592T Iles, M. M., 211 Illei, G. G., 2084F Illig, T., 275, 2226W, 2548T, 3536W Illson, M. L., 673F Im, H., 40, 623T*, 1505W I Im, H. K., 269, 1495F, 2196W Im, J. H., 571F Im, K. M., 1242W Imai, T., 2294F Imamura, A., 2652W Imaz-Rosshandler, I., 1129T Imbriano, P., 34 Imperatore, R., 3492T Imtiaz, F., 2734W Inada, T., 2380T Inagaki, A., 59 Inagaki, H., 475F* Inamori, Y., 2601W Inaoka, T., 1327F Inaoka, Y., 1321F* Inazawa, J., 914T Inbar-Feigenberg, M., 3420T Inchausti, V., 347, 2603F Incorpora, G., 2780T Indian Genome Variation Consortium, 3332W Indonesia Schizophrenia Genetics Consortium, 2407T Indrieri, A., 2810T* Indugula, S. R., 1660T, 2159F Ingebrigtsen, M., 2965W Ingelman-Sundberg, M., 3460T Ingelsson, E., 108, 115, 117, 1624T, 1707T, 1954T, 1990T, 2074T, 2090F, 2105F, 2123F, 2147F, 2241W, 2358W Ingelsson, I., 2070W Ingelsson, M., 434W Ingersoll, R., 46 Ingham, N. J., 105 Ingles, S. A., 2202W Ingram, M. A. C., 2769F* INHANCE Consortium, 1496W Inherited Neuropathies Consortium, 1871F Injeyan, M., 2971T Injeyan, M. C., 3013T* Inlow, M., 2531F Inman, R., 448W Innes, A. M., 2772F, 3095W, 3127W, 3141W, 3173W Innes, A..M., 2800W Innes, M. I., 3665F Innis, J. L., 2850F Innocenti, F., 613T Inoko, H., 2253W Inokuchi, T., 724T Inoue, I., 482W, 2253W, 2349W Inoue, K., 234* Inoue, N., 234 Inoue, S., 589F Inoue, Y., 2656T International Consortium for Prostate Cancer Genetics, 28, 986F, 1001F, 1214F International Consortium of HCV Spontaneous Resolution, 3393W International Craniosynostosis Consortium, 3070F International EndoGene Consortium, GIANT Consortium, 2077T International Genetics of Ankylosing Spondylitis and Wellcome Trust Case Control Consortia, 152 International IBD Genetics Consortium, 156, 319, 1967F, 2229W International Multiple Sclerosis Genetics Consortium, 151, 1415W International Primary Sclerosing Cholangitis Study Group and Immunochip Consortium, 2101T Introne, W. J., 3080F Inui, K., 2917W Ioan, A., 461F Ioannidis, J. P. A., 109, 1462F Ionita-Laza, I., 1530T* Ionita-Lazza, I., 1431T Iossifov, I., 2587T* Iovannisci, D., 1352W Ip, W., 2953W Iqbal, Z., 41, 472W, 3279T Iribarren, C., 118, 434W Irminger, J., 556W Irvine, A. D., 83 Irving, M., 2896W Irving, M. D., 780W* Irwan, I. D., 1934F Irwanto, A., 1117T, 2112W* Irwin, M., 2203T Isaacs, A., 119, 2106W, 2193W* Isaacs, W., 28, 1001F Isaacs, W. B., 1080W, 1214F Isaksson, M., 3685F, 3709F, 3729F Isasi, R., 1814F* Iscan, A., 2396F, 2412W Ishak, G. E., 2772F Ishida, M., 3508T Ishigaki, S., 2472W Ishiguro, H., 2380T Ishii, M., 559F* Ishikawa, K., 598W, 2371T* Ishiko, A., 2911W Ishiura, H., 52*, 233, 2409W, 2569T Ishiy, F. A. A., 852F Ishiyama, I., 1833W* Ishizu, N., 2559W Ishizuka, Y., 2009F Ishpekova, B., 201, 2948T Isidor, B., 3066F, 3233W* Iskow, R., 3251W*, 3310F Ismail, P., 1083W Isobe, N., 2113T* Isohanni, M., 252 Isohanni, P., 327 Isomura, M., 1333F* Israni, A. K., 1428T Issa, R., 990W* Issacs, W., 2202W Istrail, S., 3024T Italia, M., 2904F Italia, M. J., 3590W Italian Autism Network, 2548T, 2659T Itan, Y., 3599F* Itirli, G., 1106F Ito, H., 52 Ito, I., 2647T Ito, J., 2822T Ito, K., 1677T Iuliano, A., 1985F, 3492T Ivanov, M., 3460T Ivanova, M., 838F Ivanovich, J., 132 Ivarsson, A., 1330F Iwaki, A., 2400W, 2647T Iwamoto, K., 2435F, 2652W, 3513T Iwamoto, S., 2009F* Iwarsson, E., 3032T*, 3245W Iwasa, H., 2923W Iwata, A., 52 Iwata, N., 264, 2576F Iyengar, S. K., 1295W, 2020T Iyer, A., 3695F* Izatt, L., 218 Izatt, T., 1240T Izumi, K., 3058F* Izumi, Y., 52, 3221W, 3229W Izumikawa, Y., 2758W Izzo, G., 439F* J Jaal, J., 1140W Jabado, N., 1182W Jabbour, F., 890T Jablonski, K., 249 Jabre, N. A., 749F Jabs, E. W., 1472W, 2151W, 2928F, 3154F Jabusch, H.-C., 200 Jacinto, A., 2085W Jackson, A., 1608T, 3654W*, 3694W Jackson, A. R., 3433T Jackson, A. U., 46, 1954T, 2147F Jackson, J., 433F Jackson, J. M., 1310W Jackson, R., 1408F, 1585T, 1925F, 2145W, 2337W Jackson, R. D., 109, 2336F Jackson-Cook, C., 3512T Jacob, C. M., 131 Jacob, C. O., 1979F, 2046W Jacob, H., Session 3 Jacobs, G., 515F Jacobs, K., 1154F, 1517W, 3683F Jacobs, K. B., 30, 213, 1160F, 1372F Jacobs, K. J., 1218W Jacobson, E., 2243F Jacobson, S. G., 2183F SPEAKER AND AUTHOR INDEX *Presenting Author

370 368 SPEAKER AND AUTHOR INDEX Jacobsson, B., 3020T, 3028T Jaconi, M. E., 807F Jacquemont, S., 62, 127, 299*, 2458T Jacques, P., 123 Jaddoe, V., 2164T Jaddoe, V. W. V., 1334W, 2081F, 2162F, 2168F, 2169W Jaeger, E. B., 1176W*, 3686W Jaffe, D., 322 Jaffrey, S., 376 Jagadeesh, A., 2411F* Jaggawantru, S., 756W Jagomägi, T., 3079W Jahangirerad, A. J., 1096T Jahangiri, M., 1584T, 1675T Jaillard, S., 3170F Jaimes, G., 3069W Jain, P., 2556W Jain, S., 607T Jakkula, E., 2350T Jakobs, M., 1616T Jakobsen, J., 3528W Jakobsen, L., 126 Jakobsen, R. R., 805F Jakobsson, M., 3356W Jakovski, Z., 3286F Jakubek, Y. A., 3628W* Jalaluddin Shariff, D., 1719W Jalil, S. F., 3078F* Jalkh, N., 2937F Jamain, S., 259* Jamal, S. M., 148, 301, 1842F* Jamar, M., 925W Jameel, M., 2920W James, A. H., 2330F James, A. L., 1465F James, J., 2284T James, J. A., 549F, 1979F, 2046W, 2084F James, P. A., 1224W James, S. J., 1459F James, T., 3663F Jameton, A., 1856F Jamieson, C. H. M., 1051T Jamshidi, M., 1117T* Janas, E., 2922F Janavicius, R., 1208F* Janecke, A., 2948T Janecke, A. R., 201 Janevski, A., 3316F Jang, H., 1243T, 1657T Jang, I. J., 641T Jang, J. Y., 3223W Jang, W., 3625F Jang, Y., 1590T Janicsek, I., 3283F Jankipersadsing, S. A., 1330F Jankovic, J., 2581T Janmohamed, S. G., 745F Janousek, S. T., 718T Jansen, R. C., 1284T, 1503T Jansen Spayd, K., 1245W*, 3687F Janson, A. A. M., 574W Janssen, A., 3137W Janssen, I. M., 160 Janssens, A. C., 2105F Janssens, S., 423F, 2225F Januszkiewicz- Lewandowska, D., 1057T*, 1184F Japanese Consortium for Amyotrophic Lateral Sclerosis Research (JaCALS), 3221W Jaquish, C., 2030F Jardim, L. B., 2424W*, 2609F, 2626T, 2642F, 2825T Jarhoor, F., 163 Jarinova, O., 1645T Jaromi, L., 3283F Jarvela, I., 2181W Jarvelin, M., 252 Järvelin, M. R., 271, 656T, 1432F, 1528F, 1597T, 1623T, 2162F*, 2164T, 2173T, 2175W, 2366F, 3435T Jarvik, G., 1447F, 2098T, 3622W Jarvik, G. P., 170, 618T, 1312F, 1605T, 1828F, 2443T Järvinen, H. J., 1026W, 1276T Jarvis, J. P., 632T Jasinska, A., 2343W Jasinska, A. J., 2222F, 2262W*, 2320T Jasmine, F., 1638T, 2025W Jasso, K., 2365T Jaswaney, V., 949W Jauregio, C., 2603F Javadi, G. H., 1124F Javed, A., 1556W*, 2631W*, 3570W Javitz, H. S., 642T Jaworek, T., 2959W* Jaworski, J., 2508W, 2614T Jaworski, J. M., 9, 2572T Jaworski, M., 2242T* Jay, A., 3147W Jay, A. M., 885W Jay, F., 3356W* Jayakar, P., 1633T, 3175W Je, E., 1230W Jean, C., 1834F Jeandel, C., 3121W Jeandidier, B., 973W Jeanne, M., 1689T*, 2684T Jeannin, P., 1158W, 2248T, 3137W Jee, S. H., 1472W Jeff, J., 1602T* Jeffrey, J., 3454T Jeffreys, A. J., 3257W Jeffries, N., 2247W Jego, G., 2716W Jego, L., 2792T Jelinska, C., 418W Jena, M., 3262F* Jenkins, D., 219, 2755W Jenkins, E., 859W* Jenkins, E. C., 1986W Jenkins, G., 603T Jenkins, G. D., 1426F, 1449T Jenkins, L., 1748W Jenkins, M. A., 141, 1067F, 1079F*, 1206W Jenkins, S. A., 2072F Jens, J., 785W Jens, J. K., 2717T Jensen, E., 1691T Jensen, K. M., 1867F Jensen, R., 2041T Jensen, T. J., 3014T* Jensen, T. S., 2369F Jeong, C., 2021F* Jeong, D. C., 2715F Jeong, E. K., 2529W Jeong, J., 1198T, 2313W Jeong, K., 3459T* Jepsen, S., 2058W Jerez, D., 2495F Jerome-Majewska, L. A., 831F, 848F Jessen, J., 2971T, 3196F Jesus, G., 1977W Jeter, J. M., 1087T Jett, C., 3053W Jewell, S., 368 Jewett, E., 3357T* Jeyabalan, A., 1884W Jhala, D., 2731W* Jhamai, M., 3608W Jhangiani, S., 360, 2934F* Jhun, M. A., 2275T Ji, S.-M., 1622T Ji, T., 462W Jia, J., 1088F*, 1199F Jia, L., 690T Jia, P., 136, 3554W*, 3620W Jia, W., 3553F* Jia, X., 798W, 1934F, 2047T Jiang, G., 2279F Jiang, H., 159 Jiang, L., 1221W, 1505W, 3335W Jiang, M., 411 Jiang, M. M., 2854W Jiang, M.-M., 2864T Jiang, P., 2636F Jiang, Q., 308* Jiang, R., 1142F, 2481W* Jiang, T., 3561F Jiang, X., 260, 2622W Jiang, Y., 462W, 1963T, 2617T*, 3168F, 3237W Jiao, S., 1437T Jiao, W., 135 Jimbo, E. F., 2588F, 3118F Jimenez, D. E., 3272W Jin, F. L., 3416T Jin, H., 1316W, 1377T, 1928F, 3420T Jin, J., 579F Jin, L., 443F, 519F, 1499W, 1508W, 2460W, 3265F, 3308W, 3334F, 3355F, 3358F, 3377W, 3379F, 3394T Jin, M., 1359T Jin, P., 382, 2477F, 3483T Jin, S. C., 1472W Jin, W., 3334F, 3358F*, 3394T Jin, X., 159*, 480W, 503F, 2617T, 3300T, 3311W Jin, Y. J., 846F Jin, Y.-Y., 797W* Jinawath, N., 2918T* Jiralerspong, S., 8, 722T Jirsa, M., 570W Jo, E. J., 1298W Jobanputra, V., 957W, 1031F*, 1600T Jobling, R., 717F* Jochim, A., 2086T Jockel, Y., 2058W Jocson, M., 3522T Joe, G., 711F Joecker, A., 3528W, 3641F, 3662W Joehanes, R., 584W Joens, C., 547F Joensuu, T., 2898F Johannesson, M., 2505W Johansen, J., 621T Johansson, A., 2920W Johansson, B., 1023W, 1024T, 1035W Johansson, H., 3685F, 3729F* Johansson, K., 630T Johansson, L. F., 1619T Johansson, M., 1012T Johansson, P., 1259F Johansson, S., 2451W Johbanputra, V., 937W John, E. M., 1003T, 1075T, 1213T, 2202W John, P., 2398T, 3078F John, S., Session 26, 3369T John, S. L., 503F, 2804T John, V., 1133F Johnatty, S., 210 Johns, J., 1256F Johnson, A., 1091F, 1092W, 1267T, 2063F Johnson, A. D., 174, 301, 584W Johnson, B. F., 3708W Johnson, C. A., 403, 2955F Johnson, C. S., 3428T Johnson, D., 218, 3129W Johnson, E., 2114F*, 2650T, 3561F Johnson, E. O., 1392T, 2170T Johnson, F. K., 732T* Johnson, G. C., 2817F Johnson, G. S., 2805F, 2817F, 2847F* Johnson, J., 2210F Johnson, J. A., 626T, 646T Johnson, J. O., 2611T Johnson, K., 765W, 1203W, 1774W, 2054F Johnson, K. J., 3564W Johnson, K. R., 1878W Johnson, M., 1280W, 1394W Johnson, M. G., 1382W* Johnson, M. P., 533F, 1282F, 1406W, 2061W, 2309F* *Presenting Author

371 SPEAKER AND AUTHOR INDEX 369 Johnson, N. A., 646T, 3318T, 3383W Johnson, P., 1626T Johnson, R., 1267T Johnson, S., 309, 3359W* Johnson, T., 1400W*, 1595T, 1659T, 2174F Johnson, T. A., 1552F*, 2051F, 2071T Johnson, W. G., 2501F Johnson, Z., 595F Johnston, C., 3108F Johnston, J., 358* Johnston, J. J., 674T, 1696T Johnstone, L., 2788W Johnston IV, H. R., 3414W* John-Williams, K., 2586W, 2637W Joint Committee of NBSTRN Clinical Centers Workgroup and NCC/RC Long-Term Follow-Up Workgroup, 725F Jokinen, E. P., 1139F Jondeau, G., 56 Jones, A., 2444F Jones, C., 113, 177, 186, 1451W, 3664W Jones, C. M., 157, 1516F Jones, C. R., 2667F Jones, D. E., 153 Jones, D. M., 945W Jones, G., 2292W Jones, J., 245, 940T Jones, J. R., 2901F*, 3684W Jones, K., 3512T Jones, K. L., 3076F Jones, K. W., 1142F Jones, M., 993W, 1092W Jones, M. A., 1758W* Jones, M. P. S., 1302T Jones, M. R., 1916F Jones, R. B., 614T Jones, S. J. M., 2772F Jones, S. M., 2663T Jones, T. J., 1878W Jones, W. D., 2896W* Jongbloed, J. D. H., 1619T, 3650W Jongen, E., 708T Jonges, T., 400 Jonsrud, C., 2965W Jonsson, R., 2084F Jonveaux, P., 2770W Joo, J., 1337W, 3555F* Joober, R., 2402F, 2558F Jordan, D. M., 3404T Jordan, J., 2052W Jordan, L., 1082F Jordanova, A., 201, 2948T Jorde, L. B., Session 81, 195, 600F, 1904F, 3297T, 3378T Jorge, A. A. L., 2706F Jorge, P., 2417F, 2631W Jorgensen, J., 1689T Jorgensen, M., 2262W Jorgensen, M. J., 2222F Jørgensen, N., 2041T, 2707W Jørgensen, T., 2317T, 2347T Jorgenson, E., 2269T, 3655F* Jorgez, C., 2979T* Jose, P., 245 Josefsberg, S., 3162F Joseph, P., 1295W Joseph, V., 17, 998F, 999W, 1159T* Joseph-George, A. M., 3100F Joset, P., 2595W Joshi, A. D., 191 Joshi, P., 1383T* Joshi, S., 3669F Jossic, F., 77, 403 Jostins, L., 153, 354, 1967F* Jouan, l., 2306F Jouan, L., 2342F* Jouanolle, A. M., 2126F Jouhilahti, E. M., 1139F* Joun, D., 1209W, 1246T*, 3278W, 3714W Jourdain, A.-S., 3172F Jouzi, M., 3656W, 3703F Jovanovic, A., 772W Jowett, J., 1280W Jowett, J. B., 2308T Joy, J. B., 375 Joyce, C., 455F Joyce, P. R., 3440T Joyner, A., 3670W Joyner, A. H., 1232F* Jozaki, K., 3432T, 3519T Ju, W., 1986W Ju, Y., 1248W, 1384F Ju, Y. S., 3259F, 3463T Juan, G., 1923W Juang, J., 1608T Juárez-Velázquez, R., 1131W, 1141T* Judkins, T., 1021T Juengst, E. T., 1848W Jugurnauth-Little, S., 205, 1011W Jula, A., 2173T, 2366F Julian, C. G., 3290W Julien, C., 2234F, 2945T Jumper, C., 2197T* Jun, G., 170, 176, 343, 385, 1448W, 1476T, 1513F*, 1545T, 2308T, 2339F, 2528F*, 3664W Jun, H. S., 2712F* Juneblad, K., 2160W Jung, B., 3135W Jung, C. W., 1007F, 1103F Jung, E., 3103W Jung, H., 1051T Jung, J., 2828T, 3189W Jung, J. K., 846F Jung, Y., 1248W, 2273F* Junier, T., 3263W Junkins, H. A., 1566T, 2108F, 2155T* Juo, S., 511F, 516W, 2357F Juo, S. H. H., 1586T Juonala, M., 2120F Jurado-Medina, L. S., 3362W Juretic, N., 2343W Just, J., 1941W Just, S., 1612T Justice, A., 1913F*, 2090F, 2123F, 2147F, 2241W, 3359W Justice, A. E., 1954T Justice, C. M., 1983W*, 2151W, 3070F Justice, M., 389, 840F, 850F, 2678T Juul, A., 2707W Juusola, J., 3512T Juyal, R. C., 2941W Jyothy, A., 224 K Kääb, S., 86 Kaad, P.-H., 889W Kaakinen, M., 190, 1432F, 1597T*, 2162F Kaariainen, H., 1835W* Kaasik, K., 2667F* Kabakchiev, B., 42* Kabashi, E., 2820F Kabashima, K., 2911W Kabesch, M., 2102F, 2226W Kabra, M., 918T, 2844F, 2941W Kabwama, S., 3494T Kacevska, M., 3460T Kachelries, K., 2252F Kachelries, K. E., 1997F Kaci, N., 763W Kaczmarek, L. K., 202 Kadam, N. N., 3010T Kaderali, L., 1236W Kadivar, M., 754W Kadowaki, T., 2071T Kagami, M., 3499T Kaganovich, M., 525F*, 604T Kahali, B., 2090F, 2241W, 2275T Kähler, A. K., 2576F Kahn, J. P., 259 Kahn, R. S., 431F, 2526W, 2553W, 2661W, 3474T Kahn, S., 249 Kahns, L., 3641F, 3662W Kähönen, M., 2097W, 2120F Kai, L., 3574W Kain, S., 3699F Kaiser, F. J., 204, 2958F Kaisermann, M., 1858F* Kaitila, O., 1015T Kaji, R., 52, 3221W, 3229W Kakavand, A., 2964F Kakiuchi, C., 2370W, 2435F, 2652W Kaklamani, V., 1292W Kakourou, G., 2995T Kalari, K., 603T Kalari, K. R., 1247F Kaler, S., 235* Kaler, S. G., Session 10, 791W, 2686W Kalia, S. S., 1825W Kalil, J., 1593T Kalin, N. H., 595F, 2413T Kalinsky, K., 1255T Kalish, J., 3082F* Kalkanoglu-Sivri, H. S., 702T Kalkan Ucar, S., 3214F Kalkwarf, H. J., 812F Kallela, M., 2348F Kalli, K. R., 1238F, 3451T Kallioniemi, A., 1006T Kals, M., 3079W, 3460T* Kalscheuer, V. M., 2732T, 3165W Kalyoncu, S., 3003T Kamalakaran, S., 3316F Kamali, N. P., 1675T Kamamoto, M., 1574W Kamarainen, O., 1874F Kamatani, N., 396, 1643T, 2004W, 2174F Kamatani, Y., 1640T Kamate, M., 700T, 2803W Kamaya, M., 559F Kamberov, E., 3689F Kamboh, M. I., 343, 1647T, 1672T, 1673T, 2099F, 2125T, 2521T, 3078F Kambouris, M., 2713W, 2728W, 2899W*, 3140F, 3526W Kamel-Reid, S., 135 Kamen, D. L., 1662T, 1979F, 3371W Kaminker, J., 1539T Kaminska, A., 202, 2536T Kaminsky, E. B., 917W Kamio, Y., 2440T Kamiya, A., 2458T Kammerer, C., 1641T, 1650T Kammerer, C. M., 1672T, 1673T, 1920W, 1921T Kamnasaran, D., 3060F, 3071W, 3232F Kamp, A., 82 Kamp, T. J., 2885T Kamphans, T., 3556W* Kamps, R., 708T Kamsteeg, E. J., 160, 216, 1734W* Kamsteeg, E.-J., 214 Kan, M., 93, 2336F, 2337W* Kan, S.-H., 695F*, 734T Kan, S.-h., 785W Kan, S. H., 697F Kan, Z., 1369F Kanaan, M., 2772F, 2919F* Kanafani, S., 3109W Kanagawa, M., 232 Kaname, T., 2758W* Kanapin, A., 2939T Kanavakis, E., 84, 2995T Kanber, D., 392 Kanchi, K., 1203W Kandoth, C., 1203W Kanesky, A., 858T Kanetsky, P. A., 211, 213 Kang, A., 3223W Kang, C., 1248W Kang, E., 39, 1337W* SPEAKER AND AUTHOR INDEX *Presenting Author

372 370 SPEAKER AND AUTHOR INDEX Kang, E. Y., 1480F Kang, H., 662T, 733F*, 1533T, 2769F Kang, H.-M., 170 Kang, H. M., 108, 154, 172, 177, 1398T, 1446T, 1448W, 1510F*, 1525F, 1545T, 3405W, 3664W Kang, J., 1248W Kang, J. H., 1887W, 2154W, 2240F, 2263T Kang, K., 900T Kang, L., 3293W* Kang, M. S., 2093F Kang, S., 2660F Kang, S.-H., 898T Kang, S.-H. L., 432W, 952T, 2395T Kang, Y., 2225F Kangas, A. J., 1623T Kangas, J., 1611T Kaniecki, K., 1731W Kanik, A., 1746W Kannan, R., 3240F Kannankeril, P. J., 247 Kannengiesser, C., 29 Kanninga, R., 1330F Kanno, E., 1984T Kannu, P., 1738W Kanoni, S., 106, 115*, 3453T Kant, S., 2701W, 3271F Kant, S. G., 131, 2925F Kantarci, S., 315, 950T* Kantesaria, M., 3370F Kanthaswamy, S., 595F Kao, A. H., 2099F Kao, C., 2229W*, 2492F, 2524T Kao, L., 350 Kao, L. W. H., 1381F Kao, W. H., 1932W Kao, W. H. L., 2210F Kao, Y., 2392T Kapalanga, J., 3518T* Kaper, F., 596W*, 942T, 3619F Kaphingst, K. A., 316 Kaplan, J., 324, 390, 2320T Kaplan, J. R., 2222F Kaplan, L. D., 2185T Kaplan, R. C., 2080T Kaplonski, N., 490W Kapoor, A., 305* Kapoor, M., 2582F*, 2598W Kapoor, R., 1134W, 1135T Kaprio, J., 252, 2022W, 2110T, 2175W, 2256W, 2350T Kaptoge, S., 109 Kapur, R., 2890W Karaca, E., 360, 965W, 2719W, 2881W, 2908W*, 3222F Karacan, I., 2412W Karaer, K., 3195W Karafet, T. M., 2788W Karagas, M. R., 1091F, 1453F Karagrigoriou, A., 3017T Karakas, M., 111, 2073W Karaleftheri, M., 2044T, 3396T Karasik, D., 1334W Karatas, A. F., 3150F Karbaschi, M., 1270T* Karbowski, J., 3709F Karchin, R., 1731W, 2180F, 2305T Karczeski, B. A., 3448T Karczewski, K., 551F, 568W Karczewski, K. J., 425F, 562W*, 646T Kardia, S., 113 Karfunkel, D., 2919F Karim, L., 708T Karimé, B., 2965W Karimi, A., 3020T Kariminejad, A., 2436W Kariminejad, M., 2436W Karimipoor, M., 1118F, 1726W Kariuki, S. N., 2046W* Karjalainen, J., 108, 523F, 1503T* Karki, C., 2020T Karkucak, M., 590W Karlberg, O., 567F, 3217W, 3427T Karlin-Neumann, G., 3690W Karlinsky, L., 3185W Karlsen, T. H., 2101T Karlsson, R., 991T*, 1189T, 1990T Karma, K., 2181W Karns, R., 1660T Karolak, J., 934T Karolchick, D., 3557F Karolchik, D., 3612W Karp, D., 1901F, 2284T Karp, N. A., 105 Karpati, M., 2691F Karppinen, A., 1253F Karppinen, J., 1892F Karssen, L., 2107T Karssen, L. C., 459F Kart, H., 980T Kartmann, H., 86 Karyadi, D. M., 2219F Karydas, A. M., 2639F Kasai, K., 2370W, 2435F, 2652W Kasai, Y., 3724W Kasapcopur, O., 2841F Kasapçopur, O., 3132F Kasarskis, A., 3724W Kasberger, J., 2269T Kaschnitz, W., 2570F Kascsak, R., 2449T Kase, R., 132 Kashef-Haghighi, D., 397 Kashif, S., 2075F Kashihara, K., 2559W Kashimura, A., 598W* Kashiwagi, K., 1980W Kasiman, K., 1707T* Kask, M., 1140W* Kasowski, M., 551F, 3505T* Kasper, R. S., 632T Kastelein, J. J. P., 1604T Kasten, M., 200 Kasterstein, E., 3002T Kasuga, H., 663F Kasvin-Felton, J., 1366F Kataja, V., 1125W Kataoka, N., 781W Kathiresan, S., 115, 117, 170, 280, 350, 1331W, 1677T, 2199W Katiyar, N., 2491T*, 3542W Kato, H., 2873T Kato, K., 1815W, 1848W* Kato, M., 3136F, 3326W Kato, N., 3284W Kato, R., 2963T Kato, T., 1549F, 2652W, 3513T Katsanis, N., 3, 13, 98, 310, 386, 2458T, 2955F, 3296W Katsanis, S. H., 3 Katsuno, M., 2472W Katsuya, T., 1987T Kattman, B. L., 1762W Katz, M., 784W Katz, M. L., 2805F, 2817F Katz, M. S., 306 Katz-Jaffe, M. G., 851F*, 2968T Kaudwell, G., 1304W Kauff, N., 1841W Kauffman, T., 1869F Kauffman, W. B., 1689T Kauffmann, F., 1461T, 1941W Kaufman, D., Session 9, 1829W, 2625W Kaufman, K., 1901F Kaufman, K. M., 2046W, 3371W Kaufmann, S., 1238F Kaukinen, K., 2023T, 2177F Kaul, N., 1993T Kaunisto, M. A., 2348F Kaur, G., 2941W Kaur, K., 133 Kaur, M., 861W, 3058F Kaur, N., 1890W* Kaur, P., 410 Kaur, R., 1891T* Kaur, S., 1026W Kaur, V., 50 Kausar, T., 2959W Kauwe, J. S. K., 340*, 3643F Kavakli, I. H., 2592W Kavalla, R., 2056T Kavitha, H., 1044W Kawada, A., 3146F Kawaguchi, T., 2174F Kawahara, N., 1290T Kawakami, H., 3229W Kawakami, K., 309 Kawal, P., 1177T* Kawame, A., 2697F Kawame, H., 3043W Kawamura, H., 2656T Kawamura, Y., 663F, 2370W Kawano, Y., 2400W Kawarai, T., 52 Kawasawa, Y., 2444F Kawashima, M., 1831W, 2349W, 3301F* Kay, C., 265 Kay, D. M., 2151W Kay, J., 230 Kay, T., 2916F Kaya, H., 590W Kayabasi, C., 1178F* Kayama, T., 1549F Kaye, F. J., 1162T Kaye, J., 1848W Kaye, J. A., 2643W Kayserili, H., 1, 214, 216 Kayserilli, H., 2863W Kazan, H., 1551T Kazazian, H. H., 336, 1229F Kazkaz, L. A., 1490W Kazma, R., 1250F, 1469W*, 1496W, 3655F kconfab, 1224W kconfab, BCFR, 1213T kconfab Investigators, AOCS Group, 1492F Keane, C., 1042T Kearney, H. M., 958T Kearns, M., 1506T Kearns, W. G., 78, 2998T Keating, B., 1659T, 2063F Keating, B. J., 1606T Keating, S., 2971T, 3075W Keavney, B., 219 Keddache, M., 573F, 690T Keegan, C. E., 313 Keegan, L. P., 577F Keen, K., 123 Keenan, B., 380 Keenan, B. T., 2250W, 3417T, 3450T Keenan, K., 1322W, 2953W Keene, K., 1971W Keene, K. L., 1662T Keeney, J. G., 433F, 835F* Keerthikumar, S., 3316F Kefer, N., 515F Kehdy, F., 1119W, 3325F Kehl, H. G., 2759T Kehrer-Sawatzki, H., 939W, 2791W Keikhaei, B., 2714T Keil, T., 2102F Keildson, S., 44, 583F, 2187W*, 3441T Keinan, A., 183*, 187 Keith, M. E., 1192T* Kekis, M., 2696T Kelempisioti, A., 1892F* Kellam, P., 1507F, 2163W Keller, A., 186, 515F, 2368T Keller, M., 2722W Keller, M. A., 632T Keller, M. C., 2239T Kelley, J. L., 285 Kelley, R. I., 105 Kelliher, E., 322 Kellis, M., Session 5, 380, 3291T, 3417T, 3450T Kelly, E., 1190F Kelly, J., 953W, 2284T Kelly, J. A., 529F, 1901F, 1979F, 2188T *Presenting Author

373 SPEAKER AND AUTHOR INDEX 371 Kelly, J. C., 945W Kelsey, K. T., 3629F Kelsh, R. N., 363 Kelso, J., 3274F Kemmotsu, Y., 1631T Kemp, J., 1567F, 2081F, 2164T Kemp, J. P., 1318F, 1528F, 1583W, 2169W* Kempers, M., 128 Kempers, M. J. E., 80, 955W Kenan, B., 624T Kendall, F. D., 330 Kendall, J., 2587T Kendler, K., 3512T Kendler, K. S., 2500T, 2504F, 2594F, 2599T Keni, J., 3059W Kennedy, C., 1729W, 3680W Kennedy, C. J., 3640W* Kennedy, D., 784W Kennedy, J., 628T Kennedy, J. L., 612T, 2376W, 2608T, 2657F Kennedy, M. A., 3440T* Kennedy, R. B., 1426F Kennedy, S. H., 2133W Kennedy-Darling, J., 1269W Kennerknecht, I., 2861T Kennerson, M., 2742F* Kenney, M. C., 1963T Kenny, E., 3362W, 3563F Kenny, E. E., 293, 3360T*, 3380W, 3390T Kent, A., 1848W Kent, J., 414W, 673F, 1280W*, 3612W Kent, J. W., 1923W Kent, J. W., Jr., 1406W Kent, M., 2805F Kent, W. J., 3557F* Kenyon, C., Session 26 Keogh, J., 43 Keong, G. T., 1117T Keppler-Noreuil, K. M., 82, 404 Keravnou, A., 3017T Kere, J., 154, 1976F, 3631F Keren, B., 889W, 2770W Kerkhof, M., 2167T Kerkis, I., 1102T Kerlikowske, K., 1576F Kerns, S., 1309F* Kerr, B., 2852T Kerr, D., 1072T Kerr, E., 142 Kerr, K. F., 1661T Kerr, M., 2821W Kerscher, T., 2102F Kershberg, H., 1866F* Kersten, F. J., 1 Keshavan, R., 440W* Keshava Prasad, T. S., 3316F Kesler, J., 949W Kesselman, C., 3587F Kessner, D., 476W Kessner, D. E., 3626W* Kestelyn, P. G., 2927T Ketterer, E. A., 2329T Kettunen, J., 584W, 656T*, 1284T, 1503T, 2110T, 2173T Keupp, K., 3214F Keve, S., 784W Kevelam, S. H., 2848W Keydar, I., 2875W Keys, D., 1146W, 1195T, 3725F Keyser, M., 3671F* Khabbaz, K., 3469T Khabour, O., 855W*, 856T Khachane, A. N., 3442T Khadem, F., 3501T Khademian, H., 682T* Khader, M., 855W Khaldi, K., 2306F Khaledifar, A., 1596T Khalfallah, O., 817F Khalil, S., 2302T Khan, B. K., 2639F Khan, J., 1259F Khan, J. C., 2072F Khan, M., 865W Khan, N., 2680W Khan, S., 209, 1265F, 2949F* Khanduzi, S. R. K., 1096T KhanKhanian, P., 2113T, 3330T Khanna, H., 2680W Khanna, R., 732T Khantane, S., 2674W Khare, M., 3144F, 3213W* Kharrazi, M., 3238F Khatir, A. S., 1615T Khatri, S. M., 820F Khazen, G., 3349F Khazraee, H., 2008T Khazraei, H., 1421W Khil, P., 417F, 592W Kho, A., 811F, 2098T, 3622W Kho, A. L., 2945T Kho, J., 165 Kho, M., 1656T* Khokher, Z., 682T Kholodov, M., 3582W Khoo, S. J., 2491T Khor, C. C., 2094W, 3284W, 3339T Khosroheidari, M., 1953W Ki, A., 963W Kiani, S., 3700W Kibar, Z., 850F, 1910F, 2075F, 2692W Kibel, A., 1210T Kibriya, M., 2025W Kida, K., 726T Kida, M., 1092W Kida, Y., 598W, 599F* Kidambi, A., 2742F Kidd, A., 967W Kidd, J., 285 Kidd, J. M., 371, 3352F, 3361F, 3368W, 3411W Kidd, K. K., 3313F Kidd, L., 1339F Kido, T., 1179W*, 1831W* Kiefer, A., 1825W Kiefer, A. K., 106, 114, 626T, 1017W, 1782W, 2087F, 2089T, 2100W, 2115W*, 2127W, 2149T Kiehl, T.-R., 2428T Kiel, D. P., 109 Kielbasa, S., 298 Kielty, C., 2852T Kiemeney, L. A., 106, 431F Kiemeney, L. A. L. M., 87 Kievit, W., 621T Kiezun, A., 25* Kikuchi, H., 2400W, 2923W Kilambi, K. P., 308 Kilaru, V., 1422T, 3480T Kilembe, W., 36 Killary, A., 1095W Kilpeläinen, T. O., 2116T* Kilpinen, H., 415F Kim, A., 2723T Kim, A. S., 838F Kim, B., 389*, 2518T, 2678T, 3462T Kim, B. J., 840F Kim, C., 319, 895W, 896T, 899W, 1915T, 2121W, 2229W, 2252F, 2492F, 2514W, 2785W, 2856F, 2872W, 2892F*, 3573F Kim, C. A., 2232W, 2863W, 3152F, 3160F, 3184F, 3250F Kim, C. E., 812F, 1996T, 1997F Kim, D., 2723T Kim, D. H., 1007F, 1103F Kim, D. K., 3223W Kim, D. S. K., 2443T* Kim, E., 1608T Kim, G. H., 698T Kim, G.-H., 3227W* Kim, H., 589F, 947W, 1243T, 1384F*, 2117F*, 2117F, 2200T, 2221T, 3103W, 3223W, 3473T, 3485T Kim, H.-G., 2732T* Kim, H. S., 3423T Kim, I.-K.., 385 Kim, I. K., 1305T Kim, J., 3, 269, 678T, 866T*, 866T, 867W, 947W, 1248W, 1384F, 1385W*, 2151W, 2200T, 2437T, 2518T, 2828T*, 3112F, 3151W, 3178F, 3423T, 3462T, 3473T Kim, J. C., 706T*, 719F Kim, J. H., 470W*, 1975T*, 3607F Kim, J.-I., 1931F Kim, J. I., 3463T Kim, J.-M., 3227W Kim, J.-W., 1007F, 1103F Kim, J. Y., 846F* Kim, K., 66, 1656T, 2437T, 3462T Kim, K. J., 3180F Kim, K. M., 698T Kim, M., 900T, 947W, 1230W, 2715F, 3008T, 3461T, 3567F Kim, M. O., 846F Kim, P. M., 1551T Kim, S., 488W, 1007F, 1103F*, 1103F, 2511W, 2518T, 3008T, 3151W, 3461T* Kim, S.-H., 1007F, 1103F Kim, S. H., 846F Kim, S. J., 863W Kim, S. K., 3014T Kim, S. Y., 3607F Kim, T., 1551T Kim, T. K., 452W Kim, W., 1338T Kim, W. R., 2118W* Kim, W. Y., 1046F Kim, Y., 488W*, 947W, 999W, 1248W, 1347T*, 1363F, 1396F, 2060F, 2151W, 2468F, 2715F, 2828T, 3178F*, 3444T, 3462T, 3616W Kim, Y. J., 269 Kim, Y.-M., 3227W Kim, Y. M., 698T Kimani, J., 3276T Kimball, A., 861W Kimberly, R. P., 306, 1979F, 2046W, 3371W Kim-Howard, X., 307, 1572T* Kimmel, M., 3273T, 3549F Kimonis, V., 1791W, 2151W, 3249W Kimonis, V. E., 757W, 3144F, 3213W Kimura, M., 1574W, 2747T* Kimura, R., 1327F King, C. R., 2333F King, J. S., Session 79 King, M.-C., Session 1, 26, 263, 287, 1089W, 1228T, 2600F, 2756T, 1226F, 2929W King, O. D., 2962W King, R., 3321T King, R. A., 261, 2602T Kingery, M., 239 Kingman, G., 3562W Kingsbury, Z., 366, 1238F, 3663F Kingsmore, S. F., Session 73, 366, 2793F, 2894T Kingston, H., 2852T Kingwattanakul, P., 2006F Kini, A., 2492F Kini, U., 131 Kinnamon, D., 1544W Kinnamon, D. D., 2603F Kinney, D., 1746W* Kinnula, V., 1114T Kinoshita, S., 2129F Kinoshita, T., 298 Kinross, C., 3668W* Kinsella, M., 1043F Kinsler, V. A., 303* Kinstlinger, N., 507F SPEAKER AND AUTHOR INDEX *Presenting Author

374 372 SPEAKER AND AUTHOR INDEX Kipps, T. J., 395 Kirby, A., 322*, 1725W Kirby, J., 348 Kircher, M., 3274F Kirchhoff, M., 889W Kirchhoff, T., 208, 1159T Kirectepe, A. K., 2841F* Kirel, B., 2704W Kiridly, J. F., 306 Kirillova, I., 251 Kirk, A., 2779W Kirk, E., 131 Kirk, E. P., 217 Kirk, K., 1147T Kirkup, V., 3612W Kirmani, S., 2575T Kirmes, I., 849F Kirov, G., 1325W, 2576F Kirsanov, K., 1180T*, 1181F Kirwin, S. M., 2855T Kiryiya, M., 1638T Kiryluk, K., 845F Kishi, F., 1631T Kishino, H., 2440T Kishita, Y., 2873T Kiss, A., 2761W Kisselev, S., 442W, 1898F Kissell, D., 1764W Kitabayashi, N., 1100F Kitaichi, K., 2647T Kitajima, H., 3436T* Kitamura, Y., 2009F Kitaoka, T., 1684T Kitchen, R., 2444F Kitchens, C. S., 2330F Kitsiou, S., 84, 2937F Kittles, R. A., 1009T, 2014T*, 2087F, 2202W, 2281T Kitts, A., 3582W Kitzis, A., 77 Kitzman, J., 311 Kitzman, J. O., 74*, 94, 1014W Kivimaki, M., 1621T Kivirikko, S., 2002T Kivisild, T., 3322F Klaften, M., 2922F Klambauer, G., 1483F, 1486F Klanderman, B., 638T Klar, J., 2920W* Klautau-Guimarães, M. N., 3375T Klebe, S., 29 Kleber, M. E., 2116T Kleefstra, T., 97, 100, 102, 125, 3159W Klei, L., 553F Kleiber, M. L., 378 Klein, A. P., 3616W Klein, B., 2041T Klein, B. E., 2109W Klein, C., 200, 204, 672T Klein, D., 633T, 635T Klein, E., 2779W Klein, H.-G., 3539F Klein, M. L., 2183F Klein, O. D., 2151W, 3242F Klein, R., 208, 2041T, 2109W Klein, R. J., 1100F, 1159T Klein, T. E., 633T, 635T, 646T Kleinhanz, R., 2220W Kleinheinz, J., 2759T Klein-Hitpass, L., 3524T Kleinman, J., 2444F Kleinman, J. E., 260, 2622W Klemm, S., 3037W Klemm, T., 2328W Klengel, T., 1422T, 2483F Klepacka, D., 905W Klepp, O., 991T Kleta, R., 199 Klevit, R. E., 2929W Klimentidis, Y., 1460W Klimentidis, Y. C., 2201F* Kline, A. D., 861W* Kline, J., 1600T Klinedinst, D., 310 Klink, B., 1236W Klobus, A. B., 704T Klocke, B., 3536W Kloosterman, W., 400, 423F, 459F, 672T Kloosterman, W. P., 217, 2886F Kloske, D. A., 1245W, 3527F, 3687F Kloss-Brandstätter, A., 3319F Klotzle, B., 596W, 3451T Klovins, J., 608T* Kluck, N., 106 Kluemper, G., 2243F Kluger, Y., 579F Klugman, S., 1793W, 3022T Kluijt, I., 3200F Klünemann, H. H., 684T Klungel, O. H., 243, 609T Kluwe, L., 2791W Kmoch, S., 322, 752T Knapp, M., 2088W, 3333T Knappskog, P. M., 2451W Knauf, F., 2568W Knekt, P., 2110T Knight, J., 154, 628T, 1927T*, 2376W Knight, J. C., 373, 563F Knight, S. J., 218 Knight, S. J. L., 219 Knight-Madden, J., 2043W Knoener, R., 1269W Knoers, N. V., 217, 3164F Knoers, N. V. A. M., 216, 2848W, 2886F Knoll, J. H., 3672W Knoppers, B. M., 1823W, 1848W Knower, W., 2038T Knowler, W., 249 Knowler, W. C., 1300F, 1953W, 2018F, 2124W Knowles, D., 1440T Knowles, J., 2444F Knowles, J. A., 2564F, 3587F Knowles, J. W., 1624T Knowles, M., 2953W Knowles, M. R., 171, 406, 1322W, 2851W Knowlton, A. A., 1625T Knowlton, M. N., 2675T Knudsen, B., 3641F, 3662W Knutsen, R., 1699T Knuutila, S., 2888T Ko, A., 278 Ko, D. C., 2186F* Ko, J., 877W, 3204F Ko, J. M., 787W, 3180F* Ko, W., 3303T Kobayashi, G. S., 814F* Kobayashi, K., 232, 2550W, 2963T*, 3513T Kobayashi, M., 3230F Kobayashi, Y., 1771W Kobes, S., 1953W, 2038T, 2124W Koboldt, D., 1203W, 1210T Kobor, M., 3734W Kobrynski, L. J., 2312F Kobzik, L., 811F Kocak, M., 3480T Koch, C., 328 Koch, M., 328 Kochi, Y., 1984T, 2004W Kockum, I., 1455T, 1939T, 2276F Kodama, H., 2836W Kodama, K., 1462F Kodaman, N., 3388F* Kodati, V. L., 1893W Köehler, S., 2725W Koellinger, P. D., 2505W Koen, L., 644T Koenekoop, R., 1779W Koenen, K., 435F Koenig, B., Session 25 Koenig, B. A., 1849W Koenig, M. K., 1761W Koesterer, R., 2503T Koestler, D., 3465T Koestler, D. C., 3451T, 3629F* Koetters, T., 1965W Koga, A., 468W Kogawa, R., 2861T Kogevinas, M., 1091F Kogon, B., 1679T Koh, D. X. R., 3267T Koh, I., 3462T* Kohaar, I., 1091F, 1092W*, 1094F Kohane, I. S., 1769W, 1836F, 1843W, 3635F Kohda, K., 2370W Kohda, M., 2873T*, 2923W Kohl, I., 895W Kohl, M., 2315F Kohlbacher, O., 1200W, 1233W Kohli, A., 493F Kohli, M. A., 341, 2583W, 2586W, 2637W* Kohli, M. M., 347 Kohli, S., 1720W Kohlmann, W., 1783W Kohno, Y., 2294F Kohut, A., 3038F Koiffmann, C., 895W Koike, A., 2130W, 2349W*, 2496W Koike, S., 2435F Koivisto, K., 2350T Koivunen, P., 3297T Koizumi, A., 589F Koizumi, H., 52 Kojima, K., 2588F* Kojima, M., 2440T Kojima, R., 559F Kok, C., 2007W Kok, J. N., 1436W Kokabee, L., 1118F* Kokabee, M., 1118F Kokocinski, F., 506W Koks, S., 154 Kokubo, Y., 1730W, 2559W Kol, N., 2919F Kolberg, J. A., 2347T Kolb-Kokocinski, A., 2044T, 3396T Kolde, R., 1163F Kolder, I. C. R. M., 35* Kolek, V., 2103W Koller, D., 368, 369, 2136W, 2372F Kolodkin, A. L., 308 Kolomietz, E., 460W Kolonel, L. N., 2202W Kolundzija, A. B., 1957T Komarovsky, D., 3002T Komorowski, R., 1667T Komosa, M., 1046F, 1047W, 1050W Komski, A., 3002T Kondkar, A., 2997T* Kondo, E., 2963T Kondo, S., 2264F Kondo, T., 1795W Kondoh, T., 2891T Kondova, I., 3266W Kone, A., 2255F Konecny, G., 3451T Konen, O., 105 Kong, A., Session 75, 2279F Kong, B., 1246T, 3278W, 3714W Kong, B. S. G., 1209W* Kong, L., 3604W Kong, S., 3635F* Kong, S. W., 1769W Kong, X., 2249F Konialis, C., 2902W Konidari, I., 9, 270, 2049W*, 2318F, 2378F, 2508W, 2572T, 2603F, 2614T Konigorski, S., 3490T Konkashbaev, A., 2197T, 2333F, 3735F Konkel, M. K., 3270T* Konstantopoulou, I., 1191W, 1228T Kontula, K., 2023T Koolen, D. A., 97 Koon, S. J., 1909T Kooner, J. S., 110, 115, 3435T Kooperberg, C., 170, 1408F, 1437T, 1608T, 1925F, 2131T Koornhof, P., 1808F Kooshavar, D., 2952F* *Presenting Author

375 SPEAKER AND AUTHOR INDEX 373 Kooy, F., 2527T* Kopajtich, R., 699F* Kopp, J., 2073W Koppelman, G., 2167T, 2168F Korabecna, M., 3437T* Koralnik, I. J., 2561F Koran, M., 2532W* Korbel, J., 551F Korbonits, M., 2708T Korean Autism Genetic Study Consortium, 2518T Koreeda, Y., 2601W Koren, A., 480W Korenaga, M., 2130W Korenberg, J., 538W Korenberg, J. R., 2529W* Korendowych, E., 2160W Korf, I., 552W, 3479T Korinthenberg, R., 2812W Kormanik, K., 662T* Kornak, U., 129 Kornberg, Z., 2779W Korneliussen, T., 2311T, 3312T Kornreich, R., 1777W, 3724W Korponay-Szabo, I., 2177F Kors, J. A., 2193W Korshunov, A., 1182W Korzh, V., 3047W Kos, M. Z., 2589W*, 2651F Kosaihira, S., 1697T Kosaki, K., 2882T, 3093W, 3105W Kosaki, R., 2882T, 3093W* Koscielska, K. A., 2632T* Kosho, T., 3043W Kosho, T., 2697F, 3230F* Koskelainen, T., 1892F Koskinen, S., 1835W, 2350T Kosma, V.-M., 1114T, 1125W Kosova, B., 1025F Kosova, G., 2327F* Kosoy, R., 2360F Kostem, E., 1386T* Koster, R., 213 Kostiha, B., 2833W Kosuga, M., 726T* Kotecha, U., 1720W, 2754F Kotecha, U. H., 3236F* Kote-Jarai, Z., 205, 1011W*, 1109F, 1148F Kotkiewicz, H., 465F Kottgen, A., 1932W Kotti, S., 609T Koudijs, M., 400 Koumbaris, G., 3017T Kousi, M., 3 Koutras, C., 2528F Kovač, J., 2688F Kovac, V., 714T, 785W Kovacevic, L., 3286F Kovacevic, S., 3286F Kovach, J. L., 2028W, 2318F Kovacs, B., 520W Koval, V., 459F, 3608W* Kowall, N., 2437T Kowalski, T. W., 2270F Kowgier, M., 2167T* Kozak, K., 1093T Kozan, S., 1136F Kozel, B., 1699T* Kozhaya, L., 713F Kozicz, T., 672T Kozlov, S., 2914W Kozlowski, P., 1745W Kozol, R., 2445W Kozubek, J., 385 Kozyrskyj, A. L., 1465F Kraaij, R., 3608W Kraft, P., 191, 205, 318, 356*, 1148F, 1150T, 1331W, 1390F, 3413W Krahn, T., 3377W Kraig, E., 1406W Kraja, A. T., 1641T*, 1650T Krakow, D., 838F, 2857W, 2874F Krakow, D. A., 2740W Kral, A., 2114F Kral, A. H., 2170T Kral, B. G., 1652T Kramer, J., 2598W, 2666T Kramer, M., 2180F, 2590T, 3316F Krantz, I., 3038F, 3058F Krantz, I. D., 861W, 2695W, 2958F Kranzler, H., 2207F, 2497T Kranzler, H. R., 2503T, 2621F Krapels, I. P. C., 1711T* Krarup, H., 2862F Krasnow, R., 642T Kratochvilova, H., 752T Kratter, I. H., 2643W Kratz, C., 213 Kratz, C. P., 132 Kraus, C., 3235W Kraus, W., 3541F Kraus, W. E., 1444F, 1594T, 1636T Krause, A., 1794W Krauss, R., 1442W Krauss, R. M., 601T, 615T Krawczak, M., 580W, 1943F, 3364F, 3402T Krawisz, A., 2479T Krawitz, P. M., 298*, 3556W Kreeftmeijer, J., 400 Kreft, M., 2848W Kreger, K., 1829W Kreiger, P. A., 33 Kreimer, A., 193* Kreiner-Møller, E., 2167T Kremer, H., 1, 58*, 59, 2955F Kremmer, E., 86 Krepischi, A. C., 891W, 903W, 919W Krepischi, A. C. V., 439F Krepkiy, V., 1152W Kress, W., 2681T Kretzler, M., 3405W Kretzschmar, W., 3306T Krex, D., 1236W Krieger, H., 1343W, 2352W Krieger, J. E., 636T, 1629T Kriek, M., 2701W Kringen, M. K., 576W, 643T* Krinsky-McHale, S., 859W Krintel, S., 621T Kriouele, Y., 3246F Krishnamurthi, S., 3139W* Krishnappa, R. S., 1957T Krishnaswami, B., 1232F Kristiansen, K., 2311T Kristiansen, W., 991T Kristiansson, K., 252, 2116T, 2132F Kristoffersson, U., 1877F Kristofice, M., 885W Kroes, T., 97 Kroetz, D. L., 2258F Krogh, V., 1712T Kroisel, P., 126 Kroisel, P. M., 3111W, 3116F* Krolewski, A. S., 2313W Krom, Y., 2840T Kronenberg, F., 1595T, 3319F Kronenberg, Z., 195, 3633F* Kronengold, J., 202 Kronick, J., 720T Kruczek, P., 2966T Krueger, G. G., 1952F Krug, T., 2085W Krüger, U., 298 Kruglyak, S., 596W Kruisselbrink, T. M., 2906T Krumbiegel, M., 3235W Krumina, Z., 672T Krumm, N., 10, 12*, 93, 2897T Krumsiek, J., 2226W Krupp, D., 2340W* Krupp, L., 1924T Kruppa, J., 275 Krus, U., 47 Kruse, E., 507F Kruszka, P., 721F* Krůtová, M., 2745F Krylov, V., 2831T Krystal, J. H., 2621F Krystkowiak, P., 345 Kryukov, G., 25 Ku, C. R., 739F Kuang, Q., 1108T Kuang, Y., 2985T Kuang, Y. L., 615T Kubaski, F., 747F* Kubisch, C., 1, 105 Kubly, V. J., 1909T Kubo, M., 396, 627T, 1552F, 1631T, 1643T, 2004W, 2051F, 2071T, 2174F, 2294F, 2506T Kubota, I., 1549F Kubota, T., 2835F* Kuchenbaecker, K., 208* Kuchenbaecker, K. B., 207 Kuchinsky, A., 3588W Kuchroo, M., 2250W Kucinskas, V., 920T* Kučinskas, V., 653T Kucinskiene, Z., 920T Kučinskiene, Z. A., 653T Kuczynski, E., 3030T Kudoh, J., 2882T, 2911W* Kuechler, A., 2760F Kuersten, S., 585F, 3718W Kuga, A., 232 Kugathasan, S., 1381F, 2312F Kuh, D., 2282F Kuhn, J., 3214F Kuhn, R., 3557F Kuipers, E., 2141F Kuit, B., 809F Kuivenhoven, J. A., 2205W Kujala, E., 1835W Kujala, P., 1000T Kujala, U. M., 2134T Kukreti, R., 607T Kukshal, P., 2382W* Kukull, W. A., 343 Kukurba, K., 568W Kukurba, K. R., 527F* Kulesha, E., 3636W Kuliev, A., 251* Kulikowski, L., 896T*, 899W Kulikowski, L. D., 3045W Kulkarni, H., 3434T Kulkarni, R., 2330F Kulkarni, S., 912T, 1028F Kulkarni, V., 975W, 3726W Kulle, B., 1581T Kuller, L., 2080T Kullo, I., 2098T, 3622W Kullo, I. J., 618T, 1312F, 1447F Kulminski, A., 1991F, 2027F, 2194T* Kulzer, J. R., 304* Kumabe, M., 2046W Kumagai, T., 2748F Kumanduri, V., 497F Kumano, K., 233 Kumanovics, A., 495F, 2720T Kumar, A., 10, 1188W, 1519F*, 2446T, 2776W* Kumar, A. A., 2046W Kumar, G., 3442T, 3452T Kumar, J., 1990T* Kumar, P., 3316F Kumar, R., 1177T, 2700F Kumar, S., 533F*, 1137W, 2308T, 2339F, 2859F*, 3316F* Kumar, V., 429F, 1330F, 2088W, 2733F* Kumar, Y., 3701F Kumaraguruparan, G., 3558W* Kumari, M., 1621T Kumasaka, N., 2174F, 3507T* Kummar, S., 1068W Kundaje, A., 3505T Kuningas, M., 2366F Kunkel, L. M., 1836F, 2962W Kunst, H. P. M., 58, 1220F Kunstmann, E., 2356T SPEAKER AND AUTHOR INDEX *Presenting Author

376 374 SPEAKER AND AUTHOR INDEX Kuo, C., 1570F* Kuo, C. L., 2768T Kuo, C.-L., 1364W Kuo, D. S., 2684T Kuo, J. Z., 130, 2153F Kuo, P., 2000F, 2524T Kuo, W., 1249T Kuo, Y., 3467T Kupershmidt, I., 1183T, 1190F Kupert, E. Y., 1454W Kuracha, M. R., 2731W Kurahashi, H., 232, 475F Kural, D., 3395W Kurapati, R., 3730W Kurbatova, N., 567F, 582W Kurdoglu, A. A., 3215W Kure, S., 1290T Kurek, M., 2102F Kurian, M. A., 1773W Kurihara, I., 76 Kurita, T., 2569T Kuroda, Y., 2891T, 3051W* Kuroiwa, Y., 1290T Kurokawa, M., 233 Kurosawa, K., 1795W, 2758W, 2891T*, 3051W, 3091W, 3094F Kurppa, K., 2023T, 2177F Kurtzberg, J., 3 Kury, S., 3066F Küry, S., 1204T Kussmann, J., 3101W Kuster, J., 1958F Kusters, B., 1220F Kustra, R., 3490T Kusumawhardani, A. A. A. A., 2407T Kusunoki, N., 729F Kutalik, Z., 62, 108, 299, 1281T, 1387F*, 2116T Kutilova, M., 601T Kutkowska, A., 216 Kutlar, A., 2247W Kutsche, K., 2810T Kutta, A., 814F Kutuk, O., 1746W Kuusisto, J., 46, 2256W Kuusisto, K. M., 992F* Kuwahara, M., 2911W Kuzawa, C. W., 2036F Kuzuhara, S., 1730W, 2559W Kvale, M., 96, 112*, 421F, 2513F, 3342T, 3383W Kvale, M. N., 118, 2140T Kvist, U., 3032T Kwak, Y., 2518T Kwan, A., 362, 377 Kwan, J., 1093T, 3559F* Kwan, S., 21 Kwan, T., 256, 569F, 3439T Kwok, P., 112, 118, 2140T, 2513F, 3342T Kwok, P. Y., 620T, 1694T, 3383W Kwok, P.-Y., 421F, 2926W Kwok, S. K., 3158F Kwon, A., 947W*, 2715F Kwon, M. S., 1385W Kwon, O.-S., 1931F Kwong, A., 177, 981W, 3664W* Kyaw, E. E. P., 3034T Kypri, E., 3017T Kyriakou, S., 3017T Kyriazopoulou- Panagiotopoulou, S., 3505T L Laakman, A., 759W Laakso, A., 1253F Laakso, E. O., 47 Laakso, M., 46, 88, 1117T, 1608T, 1624T, 2256W, 3455T Läärä, E., 1597T Labalme, A., 944T Labate, A., 2766F, 2780T Labelle-Dumais, C., 1689T, 2684T Laberge, A. M., 1733W, 1784W* Labonte, B., 2482T Labonté, B., 3470T Laborde, S., 716T Labrèze, C., 83 Labrie, V., 3490T* Labuda, D., 1478W, 2790F Lacassie, Y., 3057W* Lacbawan, L., 693F Lacerenza, D., 550W Lach, F., 999W Lachance, J., 283* Lachance, S., 850F* La Chance Touchette, P., 2306F Lachenko, S., 302 Lacher, M., 1159T Lackner, C., 1115F Lackner, K. J., 1669T Lacombe, D., 124, 473F, 716T, 841F, 3172F Lacorte, L., 1119W* Lacoste, C., 2536T Lacour, A., 1423F* Lacro, R. V., 82 LaCroix, A. Z., 2145W Lacroix, J., 778W* LaDana, C., 3154F Ladd-Acosta, C., 463F Ladeira, M. S., 1187F Ladenvall, C., 2076W, 2187W Ladner, M., 1589T Ladouceur, M., 1678T, 1982F, 2319W Lærum, H., 3614W LaFauci, G., 2449T Lafay-Cousin, L., 1052F Lafek, M., 750T Laforêt, P., 328 Laframboise, R., 2790F LaFramboise, T., 1231T LaFreniere, D., 2474F Lafrenière, R. G., 2338T Lagace, F., 2866W Laganiere, J., 803W Lage, K., 805F Lagou, V., 190*, 2106W Lagström, S., 897W Lahjouji, F., 2306F Lahtinen, T., 327 Lai, A., 3707F* Lai, A. H. M., 2889F Lai, C. Q., 2024F Lai, I., 3467T Lai, J., 2786T Lai, P. S., 771W* Lai, S., 177, 1120T*, 1516F, 2198F, 2329T Lai, Y. C., 667F Laidre, P., 1140W Laine, M., 2058W Laing, S. M., 745F Laird, C. D., 1580W Laird, N., 1431T, 1526W, 2346W Lajonchere, C., 2617T Lakshman Kumar, B., 1044W Lal, D., 2489F Lalani, S., 898T, 2942T Lalani, S. R., 229, 432W, 952T, 2395T Lalanne, E., 9 Laliberte, A., 76 Läll, K., 1792W, 3353W Lally, C., 611T Lally, K. P., 834F Lalonde, E., 752T Lam, C. S. P., 2080T Lam, C. T., 680T* Lam, E. T., 2517W Lam, L., 3734W Lam, V., 2279F, 2280W LaMadrid-Herrmannsfeldt, M., 530W Lamantea, E., 164 Lamari, F., 2820F Lamb, A. N., 886T Lamb, D., 2979T Lambert, B., 2179T Lambert, B. W., 194 Lambert, C., 3303T, 3338W Lambert, L., 2792T Lambert, S., 2729T Lambourne, J. J., 3439T* Lambrecht, B., 2225F Lamb Thrush, D., 912T Lamb Thrush, L., 456W Lameijer, E., 459F Lameiras, L., 1778W Lamghari, H., 2306F Lammer, E., 75, 1589T Lammer, E. J., 1352W, 1885T Lamnissou, K., 3017T Lamont, R., 910T, 3141W Lamontagne, M., 1655T, 1947W* Lamparter, D., 1387F Lampe, A. K., 218 Lamport, D., 3119W Lan, F., 1036T Lancaster, O., 3610W Lancet, D., 53, 2875W Landais, E., 3165W Landan, M., 3242F Landau, D., 2931F Lander, E., 322 Landero, D., 2365T Landes, M., 3698W Landi, M. T., 1154F* Landsverk, M., 666T, 677F Lane, J., 1988F*, 3454T Laner, A., 1005W Lang, A. E., 2428T Lang, P., 1200W, 1233W Lang, R., 2637W Langaee, T., 646T Langberg, C. W., 991T Langberg, K. A., 2011T Langdon, Q., 3659F Lange, C., 1397W, 1536T, 2057F, 2249F, 2346W, 2520W Lange, E., 28, 1001F Lange, E. M., 170, 1214F, 1437T, 1467T Lange, K., 38, 3621F Lange, L., 350, 1439W, 2210F, 3678W Lange, L. A., 170*, 1408F, 1437T, 1467T, 2131T, 2336F, 2337W Langefeld, C. D., 1648T, 1661T, 1888T, 1979F, 2046W, 2143T, 2310W, 3371W Langevin, L. M., 3095W Langevitz, P., 783W Langford, D. J., 1965W* Langhorst, B., 512W, 3517T Langhorst, B. W., 3702W, 3715F Langlois, S., 2480F, 3135W Langmore, J. P., 3689F* Lango Allen, H., 2704W, 2935W* Langouet, M., 202, 2808F* Langston, J. W., 803W Lanktree, M. B., 1659T Lannfelt, L., 434W Lanoel, A., 83 Lantman - de Valk, H. M. J., 102 Lao, K., 3696W Lao, R. Z., 2926W Lapasset, L., 857W Lapham, K., 96, 112 Lapierrre, J.-M., 915W La Porta, M. L., 1060T Laporte, J., 328*, 2681T Lappalainen, I., 497F* Lappalainen, M., 2023T Lappalainen, T., 561F, 567F*, 582W Lappe, J. M., 812F, 3081W Laprise, C., 665F, 778W, 1361W, 1465F, 1941W Lapunzina, P., 3499T Laramie, J., 176, 1513F, 1923W, 2308T, 2339F Largaespada, D., 1229F Lari, F., 2341T *Presenting Author

377 SPEAKER AND AUTHOR INDEX 375 Lariviere, M., 31 LaRocque-Abramson, K., 1636T, 2340W Laron, Z., 2706F Laros, J. F. J., 2701W, 3586W, 3611F Larouche, V., 1065W Larrieu, L., 2947W Larsen, A., 1050W, 2689W* Larsen, E. C., 446W Larsen, l. A., 805F Larsen, P., 520W Larson, D., 1210T*, 2325W Larson, E., 2098T, 3622W Larson, E. B., 343, 618T, 1312F, 1828F Larson, M. C., 3451T Larson, N. B., 1247F* Larsson, P., 3732W LaSalle, J. M., 64, 832F, 2783T, 3479T, 3498T Laslett, L. L., 2292W La Spada, A. R., 508W, 565F, 2456F, 2628W Lasseaux, E., 473F Lasseter, V. K., 2573F Lassila, O., 1139F Laššuthová, P., 2745F Lasyone, C., 3648W* Laszig, R., 3203W Latendresse, S., 3512T Latha, M. M., 1893W* Lathi, R., 73 Lathrop, G. M., 1952F, 3466T, 3486T Lathrop, M., 649T, 1158W, 1361W, 1461T, 1941W, 2072F, 2079W, 2248T, 2303F, 3439T Latos-Bielenska, A., 845F Latour, F., 1678T, 1982F Latourelle, J., 1964F Lattanzi, W., 2235W Lattig, C., 2705T Lattig, M. C., 3225W Lattimer, I., 1173W Lau, C., 134 Lau, K. W., 138 Lau, K.-W., 1211F Lau, L., 175, 2617T Lau, P., 1645T, 2236T Lau, S., 2102F Lau, W. W. S., 1419T* Lau, Y., 2016W, 2064W Lau, Y.-F. C., 408, 1179W Lauc, G., 3286F Laufer, B. I., 378* Laughlin, C. P., 639T Laukaitis, C. M., 1087T Laumen, H., 3536W Launay, J. M., 259 Laurance, M., 3560W* Lauren, W., 2490W Laurent, C., 3658W Laurent, L. C., 3020T Laurent, N., 77, 3240F Laurenti, E., 1193F* Laureys, A., 2757F Laurino, M., 144* Lauritzen, T., 2347T Laury-Andas, J., 1090T Lauwerys, B., 2284T Laux, R., 3335W Laval, G., 3304F Lavielle, N., 1158W LaViolette, C., 988T Laviolette, M., 1947W Lavy, J., 2302T Law, J., 3730W Law, L., 1889F Law, M. H., 212* Lawaetz, J., 2707W Lawani, M. B., 1162T Lawless, J. F., 1412W Lawlor, D. A., 1318F, 1626T Lawrence, E., 2761W*, 2960T Lawrence, M. S., 402 Lawrenson, K., 210 Lawson, J. W., 2330F Lawton, S., 143 Lax, S., 1115F Layman, L., 2984T Layman, L. C., 2732T Layrisse, Z., 3390T Lay-Son, G., 1658T, 2065T Lazalde, B., 1121F* Lazar, M., 1727W, 3152F Lazaruk, K., 75 Lazarus, P., 1016F, 1107W Lazier, J., 3511T* Lazor, R., 2877F Lazzeroni, L. C., 1356T*, 1393F Le, S., 734T*, 2069F Le, S. Q., 695F, 697F, 785W Lea, A., 1820F Lea, R., 1042T Lea, R. A., 1912T, 2916F Leach, C. T., 1406W Leach, R. J., 2495F Leal, G. F., 2270F Leal, M. F., 1008W*, 1132T, 3421T, 3503T Leal, S., 19, 93 Leal, S. M., 6*, 1554T, 2336F, 2337W Leão, L., 2434T Leao, L. L., 3107W Learned, K., 3557F, 3612W Leathley, E., 2625W Lebbé, C., 29 Lebel, K., 1951T Lebel, R. R., 871W Le Ber, I., 345, 2638T LeBlanc, E., 2020T LeBlanc, M., 1581T* Lebo, R., 2972T* Lebon, P., 2452T Lebon, S., 299 Le Bouar, G., 3170F Leboyer, M., 259 Lebre, A.-S., 72 Lebron, J., 310 Le Calvez-Klem, F., 1213T Leccia, M.-T., 29 Lecerf, J.-M., 1607T Lechno, S., 849F Leclerc, G., 778W Le Clerc-Blain, J., 1733W* Le Cras, T. D., 2136W Lecroq, T., 3538W Ledbetter, D. H., 299, 917W, 2439W Ledda, M., 1281T Lederer, D., 3216F, 3218F Ledet, E., 1040F* Ledevil, C., 2436W LeDoux, M., 2782W LeDoux, M. S., 2438F* Le Dudal, K., 259 Lee, A., 59, 207, 208, 1109F, 1133F Lee, A. T., 306 Lee, A. V., 3433T Lee, B., 164, 165, 389, 411, 774W, 795W, 834F, 839F, 840F, 2678T, 2854W, 2934F, 3209W Lee, B. H., 698T*, 787W, 2864T, 3227W Lee, B. K., 463F Lee, B.-N., 3722W* Lee, C., 10, 34, 400, 494W, 864T, 1249T*, 3103W, 3247W*, 3251W, 3310F Lee, C. C., 1068W, 1244F Lee, C. R., 606T Lee, D., 258, 545F, 2119T, 3008T, 3326W, 3461T Lee, D. H., 1654T Lee, D. S., 3463T* Lee, E., 1248W, 2117F Lee, E. J., 739F Lee, E. Y., 863W Lee, H., 315*, 361, 739F, 1036T, 1657T*, 1685T, 2117F, 2221T*, 3020T, 3485T, 3536W, 3730W Lee, H.-J., 1622T Lee, H. M., 2279F Lee, H.-Y., 2581T*, 2779W, 3656W, 3703F Lee, I., 2383T Lee, J., 267*, 442W, 909W, 1061F, 1243T, 1248W, 1291F, 1385W, 1561F*, 1590T, 1650T, 1657T, 1762W, 2117F, 2437T, 2643W*, 2834T*, 3444T, 3462T, 3473T, 3582W, 3625F, 3708W Lee, J. A., 3109W* Lee, J.-E., 1656T Lee, J. E., 641T Lee, J. G. H., 129 Lee, J.-H., 1964F Lee, J. H., 82, 194, 897W, 1563T, 1641T, 2093F, 2179T, 2208W*, 2410T, 2547W Lee, J.-J., 3227W Lee, J. M., 9, 588W, 1786W, 1787W, 1834F* Lee, J.-M., 1964F Lee, J.-O., 964T Lee, J. S., 787W, 1558F Lee, J. W., 2715F Lee, J.-Y., 3227W Lee, K., 231, 908T, 1654T, 1656T, 2118W, 2119T, 2828T, 3085W, 3635F Lee, K.-A., 3178F Lee, K. P. Y., 2640W Lee, L., 2826F Lee, M., 263, 900T, 1218W, 1243T, 1474F*, 1590T, 2142W, 2146T, 2156F, 2437T, 2756T, 2921T Lee, M. H., 528W Lee, M. K., 26, 287, 1089W, 1226F, 1464T, 1654T, 2600F Lee, M. N., 528W* Lee, M. T., 2858T Lee, N.-C., 683F Lee, N. C., 706T Lee, O., 981W Lee, P. H., 352* Lee, R., 3696W Lee, R. K., 2154W, 2240F, 2263T Lee, S., 846F, 947W, 1230W*, 1248W, 1384F, 1388W*, 1529W*, 1530T, 1931F*, 2334W, 2663T, 2715F, 3085W, 3413W, 3473T, 3605F, 3681F Lee, S.-J., 2119T* Lee, S. K., 3423T* Lee, S. S.-J., Session 9 Lee, S.-T., 1007F, 1103F Lee, T., 729F, 781W, 2200T Lee, W., 1248W*, 2437T, 2581T, 3606W Lee, Y., 40*, 985T, 1894T*, 1905W, 2587T Lee, Y. A., 2102F Lee, Y.-A., 1942T Lee, Y.-H., 1622T Lee, Y.-J., 2285F Lee, Y. K., 846F Lee, Y. M., 2712F Leeder, J. S., 811F Lee-Kirsch, M. L., 2102F Lees, M., 2752W, 2896W Lees, M. M., 217 Lefeber, D. J., 214, 672T Lefebvre, A., 3538W Lefebvre, J.-F., 1478W Lefever, S., 2927T Lefevre, J., 1170W Leffler, E., 285 LeFloch, A., 1768W Lefol, C., 1212W Lefort, G., 857W, 936T, 2386T, 2729T, 3121W, 3166F Legallic, S., 345 Legeai-Mallet, L., 763W Legendre, M., 77*, 403 Legendre-Guillemin, V., 778W Legius, E., 1139F Le Goff, C., 127* Le Goff, W., 127 Legrand, G., 1170W Legro, R. S., 2327F SPEAKER AND AUTHOR INDEX *Presenting Author

378 376 SPEAKER AND AUTHOR INDEX Lehesjoki, A.-E., 2898F Lehman, A., 750T, 3006T* Lehman, D., 1513F, 2495F Lehman, D. M., 176, 1923W, 2308T, 2339F Lehne, B., 1470T Lehner, T., 2523W, 2560T Lehr, T., 617T Lehrach, H., 582W Lehtimäki, T., 109, 656T, 1623T, 2059T, 2097W, 2120F, 2350T, 2383T Lehtinen, M. K., 266 Lehtonen, R., 995F Lei, J., 824F, 1144T Leiba, H., 3162F Leidinger, P., 515F Leigh, M. J., 770W Leigh, M. W., 2851W Leighl, N. B., 1108T Leijsten, N., 979W Leijsten, N. F. A., 955W Leikin, S., 222, 2853F Lein, E., 2444F Leipzig, J., 391 Leissner, P., 2255F Leistner-Segal, S., 747F Leistritz, D. F., 1759W* Leite, J., 1851F Leitsalu-Moynihan, L., 1792W, 1832F*, 3353W Lejeune, S., 1212W Lek, M., 280, 295*, 582W Lekanne dit Deprez, R., 1616T, 3650W Lekshami, J., 3400T Lelis, A. M., 753T* Lema, G., 283, 3303T, 3338W Lemaitre, J. M., 857W Lemanske, R., 536W Le Marchand, L., 205, 1079F, 2202W LeMarchand, L., 1067F, 1206W, 1925F Lemay, P., 2075F* Le Merrer, M., 324, 915W, 2729T, 3129W Le Meur, G., 390 Lemieux Perreault, L.-P., 3401W Lemire, E., 3127W, 3209W Lemire, E. G., 2772F Lemire, M., 1093T, 3478T, 3489T Lemley, M., Session 20 Lemke, A. A., Session 25 Lemmelä, S., 2120F* Lemmens, I., 2660F Lemmers, R. J. L. F., 55 LeMons, C., 774W Lemos, C., 1296T*, 2736F Lemos Silveira-Lucas, E., 131 Lemyre, L., 149, 1827W Lenaers, G., 2679F Lench, N. J., 1748W, 1773W* Lencz, T., 17, 264, 3346F, 3366T Lenders, J. W. M., 1220F Lenferna de la Motte, P., 2411F Leng, N., 1249T Lenk, G. M., 2471F* Lenkala, D., 623T Lenkiewitz, E., 1186T Lennep, C. V., 2676F Lennington, J., 2854W Lenz, D. R., 2914W Lenz, M., 1851F Lenz, P., 1092W Lenz, T. L., 3404T* Lenzini, P. A., 2535W Leo, P., 152 Leo, P. J., 2053T Leon, E., 3189W* Leonard, L., 2316W, 3040F Léonard, M., 3538W Leonardi, E., 1755W, 2795T Leon-Del-Rio, A., 3504T Leone, M., 2095T, 2804T Leong, P., 3717F Leongamornlert, D., 205, 1011W Leon-Salazar, V., 821F Leotta, A., 2587T Leoyklang, P., 709F* LEPGen Consortium, 2116T Leppä, V., 252, 2350T*, 2399F Leppanen, P. H. T., 1976F Leppert, M. F., 2397W Leppert, T., 2397W Leproust, E., 3709F LeProust, E., 975W, 3459T, 3653F, 3669F, 3726W Lerach, H., 567F Lerch, M. M., 2141F Leren, T. P., 1607T Lerental, Y., 2691F Lerer, B., 2564F Lermioglu, F., 1172F Lerner, M., 474W Leroy, B., 77 Leroy, B. P., 539F, 1790W, 2927T Lesage, S., 29, 2638T* Lese Martin, C., 13, 299 Leshinsky-Silver, E., 3174F Leske, M. C., 1003T Lesko, S. M., 1107W Leskovac, A., 3286F Leslie, E., 2325W Leslie, E. J., 2762T* Leslie, N., 789W Leslie, S., 181* Lesniak, B. P., 2185T Lesovaya, E., 1180T, 1181F* Lessage, S., 1982F Lessard, C. J., 529F, 2084F*, 2188T Lessard, J. A., 529F, 2084F, 2188T Lessov-Schlaggar, C. N., 642T Lester, T., 218 Lesueur, F., 1213T Letaif, O., 3184F Leth, H., 702T le Tisser, P., 2701W Letourneau, A., 67, 85, 561F, 807F, 3431T* Letra, A., 1936T* Letra, A. M., 1908W Lettre, G., 350, 1408F, 1906T*, 2063F, 2210F, 2247W, 2319W, 3401W, 3525T Leung, D., 2849T Leung, D. G., 2962W Leung, H.-T., 2072F Leung, P. C. K., 2977T Leusink, M., 609T* Leuzzi, V., 760W Lev, D., 2447F, 3048F, 3174F Levade, T., 54, 716T LeVan, T. D., 3027T Levandowsky, E., 400, 1068W, 1244F Levenstein, M., 1269W Leverenz, J., 2538W Leverenz, J. B., 2646W Levert, A., 2558F Levesque, G., 2528F Levesque, M. P., 363 Levi, M., 1604T Levin, A., 1250F Levin, A. M., 1895F* Levin, B., 2583W Levin, H., 1138T Levin, J. Z., 554W Levine, D., 3210F Levine, D. M., 2190W Levine, J. D., 1965W Levine, K., 2761W, 2960T Levine, M. A., 3448T Levine, R. L., 1017W Levine, S., 1820F Levinson, D., 2576F Levinson, D. F., 369, 2372F, 3658W Levitas, A., 1588T Levitt, P., 2444F Levy, B., 73*, 937W, 957W, 977W, 1031F, 3018T Levy, D., 584W, 1600T, 1653T, 1659T, 2063F, 2587T Levy, D. J., 3158F Levy, J., 2114F Levy, J. L., 2170T Levy, N., 328 Levy, R., 10 Levy, S., 494W, 1239W Levy, S. M., 1464T Levy Lahad, E., 2991T, 3002T Levy-Lahad, E., 2447F, 2929W, 2993T Levy-Mozziconacci, A., 3129W Lewandoski, M., 828F Lewellen, N., 2 Lewinger, J., 1362T Lewin-Koh, N. J. I., 1539T* Lewis, A. P., 74, 94 Lewis, B., 2145W Lewis, B. A., 1295W Lewis, C. E., 1661T Lewis, C. M., 348, 1313W, 1329T*, 2509T Lewis, D., 2034W* Lewis, D. M., 529F, 2188T Lewis, I., 3695F Lewis, J. P., 602T Lewis, K., 358, 1690T Lewis, K. L., 1696T Lewis, M., 3697F Lewis, M. E. S., 491F Lewis, M. H., 1731W Lewis, R., 1900T, 2043W Lewis, R. A., 3234F Lewis, S., 447F, 517F Lewis, S. E., 2725W Lewis, T., 3182F* Ley, R. E., 537F, 2029T Ley, T., 1203W Leya, J., 865W Leyva, N., 9, 3124F, 3226F Leyva, X., 3125W Li, A., 121, 174, 648T Li, B., 93, 869W, 2216F*, 2926W, 3273T*, 3275W, 3566W Li, C., 1493W, 2204F*, 2207F, 2301W, 3275W, 3557F, 3603F, 3604W, 3714W* Li, C.-Y., 1209W, 1246T, 3278W Li, D., 1157F, 1681T, 2136W, 2722W, 2856F*, 3237W Li, F.-Y., 1750W*, 2778F Li, G., 2080T, 2145W Li, G.-N., 457F, 2623T Li, H., 116, 195, 284, 529F, 798W*, 1242W, 1261T, 2084F, 2188T*, 2246F, 2259W, 2477F, 2643W, 3029T, 3293W, 3320W*, 3377W Li, H.-Y., 3529F Li, J., 196, 432W, 1404T, 1473T, 1491T, 2053T, 2121W*, 2172W, 2229W, 2237F, 2332T, 2571W, 2879T, 3282T, 3465T*, 3505T, 3534W, 3613F* Li, J. B., 289, 527F, 543F, 577F Li, J. Z., 476W, 2135F, 3285T Li, K., 3281W Li, K. P., 170 Li, L., 603T*, 888T*, 1086W, 1612T, 1686T, 2230T*, 2680W, 3081W, 3134F, 3483T, 3552W Li, M., 21*, 399*, 812F, 1027T, 1040F, 1532W, 1555F, 1642T, 1914W*, 2210F, 2444F, 3551F Li, M. D., 1540F, 2388W, 2390F, 2574W Li, M. X., 3559F Li, N., 2544W* Li, Q., 5*, 159, 1363F, 1512T, 2048F, 2345F, 2419T Li, Q. B., 2311T Li, Q. Z., 1901F, 2284T Li, R., 106, 277, 618T, 1167W, 1311T*, 1312F, 1411F, 1447F, 2098T, 2921T, 3308W, 3667F* *Presenting Author

379 SPEAKER AND AUTHOR INDEX 377 Li, S., 443F, 909W, 1235F, 1365T, 1369F, 2274W*, 2834T, 3394T, 3464T* Li, T., 2419T, 2494T, 2573F Li, W., 441F*, 528W, 844F*, 1322W*, 2953W Li, W. D., 2612F Li, W. R., 2858T Li, X., 568W*, 950T, 1322W, 2094W, 2698W, 2895F, 2907F, 3021T, 3065W, 3535F Li, Y., 1, 154, 159, 323, 377, 382*, 399, 408*, 480W, 564W, 1027T, 1369F, 1427W, 1437T, 1491T, 1524T, 1532W, 1555F, 1627T, 1730W, 1952F, 2251T, 2254T, 2317T, 2347T, 2489F, 2542T, 2559W, 2617T, 2944W, 3134F*, 3221W, 3307F, 3483T, 3490T, 3553F, 3580W Li, Y. S., 1110W Li, Z., 974T*, 1304W, 1546F Lia-Baldini, A.-S., 2694F* Lianas, L., 157 Liang, B., 490W Liang, C., 1901F, 2949F Liang, J., 2251T, 3307F Liang, J. Q., 1723W Liang, K. Y., 1472W Liang, L., 1027T, 1357F, 1390F, 2102F, 3466T*, 3469T, 3486T Liang, M., 1540F Liang, S., 1133F Liang, W., 1240T Liang, Y., 3300T Liao, J., 904T, 2094W Liao, J. C., 2238W Liao, O. Y., 1054T Liao, S.-Y., 2122T* Liao, W., 3708W Liao, Y., 511F Liao, Y. C., 1586T* Libarkin, J., 1861F Libener, R., 1153T Liberal, V., 3720W Liberton, D. K., 2223W Libiger, O., 24*, 3332W Li Chang, H. H., 1138T Lichanska, AM., 1165T Lichtarge, O., 2854W Lichtenstein, P., 2509T Lichter, P. R., 2154W, 2240F, 2263T Lichter-Konecki, U., 774W Lichtner, P., 2086T, 2568W Lichty, A., 3171W Lidar, M., 783W Lidereau, R., 1062W, 1212W Lidral, A., 2325W Lie, R., 1564F Lie, R. T., 1472W Lieber, D. S., 326* Lieberman, E., 872T, 875W Lieden, A., 1939T Liendhard, A., 2694F Lietman, C., 2854W Lifton, R., Session 74 Lifton, R. P., 845F, 1241F, 2779W, 2915T Light, N., 569F* Ligon, K. L., 266 Ligtenberg, M. J. L., 1220F Liguori, M., 2597F Lih, C.-J., 1068W* Lihm, J., 1338T* Lilien, M. R., 2848W Liljedahl, U., 3217W, 3427T Lilley, J. S., 1634T* Lillquist, Y., 750T Lim, B., 680T, 877W*, 3204F Lim, B. C., 3180F Lim, E., 280, 624T Lim, E. C. P., 2889F Lim, E. T., 11*, 2344T, 2613W Lim, J., 947W, 3008T*, 3461T Lim, J.-E., 1622T Lim, J.-H., 964T Lim, J. W., 55 Lim, M., 1622T Lim, R., 2482T Lim, S., 2328W* Lim, S. N., 3034T Lim, Y., 552W* Lima, B. L., 776W* Lima, M. A. F. D., 2642F Lima, R. M., 1880F Limacher, J.-M., 1212W Limaye, M., 1015T Limaye, N., 83, 1611T Limburg, P. J., 1351F Limem, K., 1751W Limon, A., 694T Limotai, C., 2749W Lin, A., 103, 124, 126 Lin, A. Y., 1054T Lin, B., 2974T Lin, C., 1249T, 3695F Lin, C.-F., 342, 2316W Lin, C.-L., 2285F Lin, C. Y., 1368T Lin, D., 170, 1027T, 2337W Lin, D. Y., 1434T, 1437T Lin, G. N., 2660F Lin, H., 981W*, 2556W, 3467T* Lin, I.-H., 610T Lin, J., 96, 112 Lin, L., 382, 2543F Lin, M., 1894T, 1905W Lin, M.-W., 610T*, 1955F Lin, R., 511F Lin, S., 1272W, 2419T, 2610W, 3326W, 3467T Lin, S.-W., 1010F Lin, W., 985T, 1410T, 1894T Lin, X., 1529W, 1530T, 2122T, 2334W Lin, Y., 1235F, 2053T Lin, Y. C., 2245T Lin, Y. H., 2936T* Lin, Y.-Y., 214 Lin, Z., 2478W*, 2921T* Linares, N., 659F Lincecum, T., 3698W Lincoln, P., 804W Lincoln, S., 1513F, 1923W, 2308T, 2339F Lincoln, S. E., 176 Lind, J. M., 1705T, 1862F* Lind, L., 2070W Lind, P. A., 2212T, 2505W* Lindberg, M. L., 436W Lindblad-Toh, K., 322 Linden, D., 684T Lindenbaum, P., 1204T Linder, H., 2331W Linderoth, T., 3312T Lindfors, K., 2023T Lindgren, A. M., 70, 284, 862T Lindgren, C. M., 44, 173, 269, 583F, 1308T, 1954T, 2070W, 2076W, 2077T, 2090F, 2123F, 2147F, 2187W, 2324F, 3435T Lindhurst, M. J., 33* Lindor, N. M., 141, 1058F*, 1067F, 1079F, 1206W, 3564W Lindo-Samanamud, S., 2453F* Lindquist, K., 1250F* Lindsay, F., 2497T Lindsay, M., 81 Lindsay, M. E., 79, 80 Lindsay, S., 43, 61 Lindstrand, A., 2955F* Lindstrom, S., 191, 205, 318, 356, 1150T Linehan, W. M., 1242W Ling, H., 46, 1254W, 1452T, 1512T, 2556W, 3716W Ling-Fung, P., 2926W Linker, S., 524W* Linn, A., 316 Linnankivi, T., 2888T Linneberg, A., 2317T Linnertz, C., 2465F Lins, T. C. L., 1880F, 3272W* Lins, T. S., 2706F Linton, M. F., 1634T Lioi, M. B., 2629T Lionel, A., 98, 2570F Lionel, A. C., 2575T*, 3086F, 3095W Liou, B., 161 Liou, H., 2392T Lipinski, S., 2103W Lipkin, S. L., 1159T Li-Pook-Than, J., 1505W, 2322W Lippert, C., 1379W, 3468T Lipshultz, L., 2979T Lipska, B. K., 260, 2622W Lipson, S., 168 Liptak, G. S., 1254W Lira, R. P. C., 2751F Lis, J. T., 415F Lisoňová, J., 2745F Lissowska, J., 1117T Listerman, I., 96, 112 Listgarten, J., 1379W, 3468T* Litscher, S. J., 710T Little, J., 149, 1827W Littleton, K. R., 50 Littman, E., 78 Littman, J., 999W Littrell, J., 441F Litzelman, K., 1267T Litzler, J., 3240F Liu, A., 536W Liu, C., 412W*, 486W, 1585T, 1896W*, 1974W, 2196W, 2197T, 2561F, 3520T Liu, C. T., 2030F Liu, D., 1370W* Liu, E., 1330F Liu, E. Y., 1427W, 1555F* Liu, G., 1016F, 1108T, 3210F Liu, H., 1257W, 1291F, 2721F* Liu, J., 368, 602T, 910T*, 924T*, 1117T, 1930T, 2055W, 2112W, 2275T Liu, J. B., 2985T Liu, J. J., 1934F Liu, J. Z., 153*, 2101T, 2163W Liu, K., 1371T, 2649W Liu, L., 1433W, 1520W*, 1777W Liu, M., 1198T Liu, M.-J., 3029T Liu, N., 1410T*, 1460W Liu, P., 61*, 63, 512W, 824F, 1511W*, 3483T, 3517T, 3702W, 3715F* Liu, R., 2969T Liu, S., 326, 489F*, 1925F, 2489F, 3428T Liu, T., 1070F Liu, V. C. H., 2066F Liu, W., 314, 613T*, 1735W, 1742W, 1757W, 1761W, 2802F* Liu, X., 123, 174, 349, 442W*, 864T, 1182W*, 1369F, 1546F, 1693T*, 3026T, 3339T* Liu, X. L., 1930T Liu, X. S., 1907F Liu, Y., 13, 386, 544W, 1019F*, 1098W, 1491T, 1642T*, 2052W, 2145W, 2154W, 2172W, 2240F, 2263T, 2556W, 3551F Liu, Y. J., 2053T Liu, Y.-Z., 2172W Liu, Y. Z., 2053T Liu, Z., 1357F*, 1644T, 2020T, 3495T, 3587F Livermore Auer, P., 19* Livingston, R., 530W Livneh, A., 783W Lizano, E., 567F Llewellyn, K. J., 757W* Lloreta, J., 1091F Lloyd, D., 3703F SPEAKER AND AUTHOR INDEX *Presenting Author

380 378 SPEAKER AND AUTHOR INDEX Lloyd, D. L., 219* Lloyd-Evans, E., 162 Lo, C.-L., 829F Lo, F., 1894T Lo, K., 601T, 1249T Lo, K. S., 1906T, 3525T* Lo, Y., 1521T* Loane, E., 1897T Lobina, M., 177, 1516F, 2329T, 3664W Lobo, D. S. S., 2608T* Local Genome Diversity Studies Consortium, 3315T Locke, A. E., 108, 173, 269, 1954T, 2069F, 2090F, 2123F*, 2147F, 2241W Lockhart, D. J., 732T, 1684T Lockhart, N., 1845W Lockwood, C., 3030T Locus Development, Inc., 1766W, 1771W, 3548W, 3692W Loddo, S., 881W, 943W, 2777T* Loeschner, A., 2483F Loeuillet, L., 77, 403 Loeys, B., 79, 80*, 1617T, 1679T, 2387F Loftus, S. K., 258 Logan, A. C., 1112F Loget, P., 77, 3129W, 3170F Logronio, C., 3331F* Logsdon, B. A., 1408F* Logue, M., 343 Logue, M. W., 2563T* Loguercio, S., 3584W Lohi, H., 2213F, 2517W, 2913F Löhle, E., 2829F, 3203W Lohman, G., 3517T, 3715F Lohmann, D., 392 Lohmann, J., 2160W Lohmann, K., 200*, 204 Lohmueller, K., 182, 281 Lohmueller, K. E., 1573F, 2311T*, 3305W Lohn, Z., 1846W* Lohnau, T., 204 Loi, A., 157 Loi, H., 3730W Lok, K. H., 1662T Loke, J., 409*, 1185W Loken, E., 2594F Loken, E. K., 2599T* Lokki, M. L., 3258T Lolkema, M., 400 Lomas, D., 2057F Lomas, D. A., 2249F Lomax, M. I., 1878W London, S., 536W Londono, D., 1358W*, 1359T Londsdale, J., 368 Long, J., 3612W Long, Q., 1457W Long Life Family Study, 2040W Longman, C., 2812W Longo, A., 824F, 3492T Longo, N., 660T, 689F Longstreth, W. T., 1592T Lonie, A., 1213T, 3679F Lönnerholm, G., 3427T Lonnqvist, J., 252 Lonsberry, V., 3683F Loo, A., 3006T Loo, S. K., 639T Loogers, L., 307 Looijenga, L. H. J., 1122W*, 1273T Loomes, K. M., 2316W Loomis, E., 477F, 2634W Loomis, E. W., 2633F* Loomis, S., 1887W, 2263T* Loomis, S. J., 2154W, 2240F Loos, B. G., 2058W Loos, R. J., 2116T, 2131T Loos, R. J. F., 43, 108, 1954T, 2090F, 2123F, 2147F, 2241W, 2282F, 2359T Lopes, A., 1778W, 2982T Lopes, F., 913W Lopes-Cendes, I., 514W, 2233T, 2393F, 2394W, 2609F*, 2653T, 2655W, 2876T, 3578W Lopez, A., 1141T, 3035W Lopez, E., 2716W, 2770W*, 2792T Lopez, I., 1779W Lopez, J., 3582W Lopez, J. P., 2338T, 2482T* Lopez, O. L., 2125T, 2521T Lopez Camarillo, C., 1048T López-Hernández, G., 1131W, 1141T Lopez Parra, A. M., 3364F, 3402T Loplumlert, J., 2749W Loranger, K., 1059W Lord, G., 2082W Lord, H., 218 Lorenco, L. G., 3421T Lorente, B., 1 Lorenz-Depiereux, B., 2693T, 2922F* Lorenzo, C., 1888T Lorenzo, F. R., 3297T Lorey, F., 362 Lorget, F., 763W* Lori, A., 2383T*, 2384F Loring, E., 2915T Lo Rizzo, C., 2604W Lortz, A., 3088F Löscher, W., 2948T Löscher, W. N., 201 Losfeld, M. E., 1758W Lossie, A. C., 829F* Lotery, A. J., 2072F, 2843T Lott, P., 552W, 3479T Lotta, L., 2880F Lou, H., 443F*, 1242W, 3334F, 3394T Lou, X., 1460W* Lou, Y., 1232F, 3456T Loucoubar, C., 2079W, 2248T* Louie, K., 3429T Louie, T., 171 Louie, Y., 3182F Louis, E., 442W, 2377T Louis, E. D., 1898F Loureiro, L. J., 2820F Lourenco, C., 2425T* Lourenço, C., 895W Lourenço, L. G., 3503T Lourenço, N. C. V., 1727W Louro, I. D., 182, 1573F Loutrel, J., 3530W Love, T. W., 2087F Lovecchio, J., 1133F Lovelette-Hernandez, A., 1754W Lovell, A., 789W Lovestone, S., 3471T Lovick, N., 145*, 1810F Lovicu, M., 847F Loviglio, M. N., 775W, 3256F* Low, P. S., 771W Low, S., 2506T* Low, S.-K., 2133W Lowe, J., 553F Lowe, J. K., 2478W, 2518T, 2551T*, 2658W Lowman, G., 3698W Lowndes, S., 982T* Lowrance, W., 1328W Loyola, B., 3076F Lozano, M. C., 2705T* Lozanovski, V. J., 845F LSFC Consortium, 665F Lu, A., 2415W* Lu, A. T., 2056T Lu, C., 1203W, 2606F, 2759T Lu, D., 2721F, 3334F, 3394T Lu, F., 1251W, 3648W Lu, H., 2698W, 2895F, 3065W, 3535F, 3681F Lu, H. M., 2698W, 2895F, 3065W, 3535F Lu, I., 1736W Lu, J., 2934F, 3209W, 3597F* Lu, J. T., 2864T Lu, L., 28, 1661T Lu, Q., 638T, 2251T Lu, W., 82 Lu, X., 116, 134*, 909W, 2259W Lu, X.-J., 2970T Lu, X. L., 1974W Lu, Y., 5, 1249T, 1511W, 1582F, 2048F*, 2345F, 2868F Lu, Y. C., 2936T Lu, Y. E., 1298W Lu, Z., 247 Lu, Z.-L., 2970T Lua, R., 2854W Luan, J., 1553W*, 2282F Luan, J. A., 1365T Lublinghoff, N., 2829F* Luc, G., 1607T Luccarini, C., 205 Lucchiari, S., 1751W Lucena-Araujo, A. R., 1045T Ludmila Serafim, A. L. S., 3099W* Ludtke, A., 3033T* Ludwig, D., 96, 118, 230, 2513F Ludwig, K., 1512T Ludwig-Kubinski, A., 1269W Ludwin, S., 671F Luedeke, M., 1080W Lugo-Trampe, A., 1030T Lugtenburg, I. C., 3611F Luiselli, D., 3322F Lujic, S., 1705T Luk, J., 1369F Luke, A., 1959W Luke, M. M., 1603T* Lukina, E., 773W Lukong, J., 1958F Luksan, O., 570W* Lulli, P., 760W Lum, P. Y., 2220W, 3618W Lumayag, S., 520W Lumley, T., 1346W, 1585T Lund, A. M., 737F Lund, J., 2699T Lund, L., 1845W Lundholm, C., 1707T Lundmark, P., 569F Lunetta, K., 1571W, 2165F Lunetta, K. L., 343, 1476T, 2336F Lunnon, K., 3471T Luo, G., 3698W Luo, L., 20, 1401T* Luo, M., 490W, 1777W*, 3276T* Luo, R., 553F* Luo, S., 1167W Luo, X., 521F Luo, Y., 354* Luoma, L. M., 2474F* Lupien, M., 188 Lupoli, S., 2095T Lupski, J., 360*, 777W, 2542T, 2934F Lupski, J. R., 61, 63, 229, 314, 337, 428W, 430W, 432W, 433F, 485F, 898T, 1735W, 1742W, 1761W, 2470T, 2798T, 2881W, 2883F, 2908W, 2955F Lupton, S. J., 1705T Luscombe, S., 454W Lusis, A., 1337W Lusis, A. J., 39 Luthra, K., 555F Lutz, C., 983F Lutz, F., 2646W Lutz, M., 2465F Lutz, M. W., 637T*, 1382W Lutz, R., 2951T Luu, S., 832F, 2571W Luukkonen, T. M., 897W* Luz del Rosario, M., 167 Lvova, M., 3653F Ly, C., 2742F Ly, V., 490W Lybarger, D. J., 1346W Lyle, P., 136 Lyle, R., 434W, 3510T* *Presenting Author

381 SPEAKER AND AUTHOR INDEX 379 Lynch, D. C., 3127W* Lynch, J., 262 Lyon, E., Session 3, 1752W, 3220F Lyon, G., 3561F* Lyonnet, S., 126, 522W, 843F, 915W, 3172F Lyons, L. A., 3252T* Lyons, R., 177 Lyons, R. H., 2329T, 2850F Lysell, J., 2276F Lyssenko, V., 190 Lyu, S., 900T Lyytinen, H., 1976F M Ma, B., 2587T, 3469T* Ma, C., 1352W, 1389T*, 1510F, 1885T, 2419T, 2489F Ma, J., 31, 593F*, 1399F, 2819T Ma, J. Z., 2388W, 2390F, 2574W Ma, L., 183, 187*, 1936T, 2251T Ma, R., 2280W Ma, R. C. W., 2279F* Ma, X., 462W, 1235F Ma, Y., 1198T*, 1772W* Ma, Z., 3696W* Maas, J., 2581T Maas, R. L., 82 Maas, S., 2932W Maayan, H., 788W Mäbert, K., 2920W Mabuchi, F., 1980W* Macaranas, O., 803W MacArthur, D., 41, 567F MacArthur, D. G., 280*, 295, 582W MacArthur, J. A. L., 2108F, 2155T, 3732W* Macaya, D., 1676T MacBean, E., 1825W Macciardi, F., 2459F, 2469W, 2564F*, 3587F Maccioni, L., 2001W MacCluer, J., 1280W MacCluer, J. W., 2061W MacDonald, H., 3143W MacDonald, I., 1802F MacDonald, J. R., 460W MacDonald, M. E., 1964F, 2643W MacDougall, M., 2759T Mace, A., 62, 299 Macek, M., 2102F Macera, M. J., 937W, 957W*, 1031F MacGregor, S., 212, 2068T, 2133W, 2190W Macgregor, S., 388*, 2077T Mach, C., 2770W Mach, M., 3116F Machado, C. O. F., 2654F Machado, J. C., 1747W Machida, J., 1574W*, 2747T Machiela, M. J., 1390F* Machielsen, G. C., 955W Machielsen, T., 979W Macias-García, B., 1030T Maciel, P., 913W Maciel-Guerra, A. T., 478W, 479F Maciewicz, R. A., 2292W Macintyre, G., 2474F Macip, S., 1270T Mack, W., 3415T Mackay, D. J. G., 3494T MacKenzie, A. E., 2800W MacKenzie, J., 671F Mackenzie, W. G., 2855T, 3150F Mackey, D. A., 2068T Mackey, J. R., 1297F Mackey, K., 658T Mackie Ogilvie, C., 906T MacKinnon, S., 2928F Macleod, J., 1567F MacLeod, S. L., 1459F MacMillan, A., 966T Mac Neal, M., 129, 2761W MacNee, W., 2249F Macpherson, J. M., 498W, 1223F, 3386W Macpherson, M., 179 Macrae, F., 1130F Macri, J., 2243F Macri, V. S., 1585T Madan, S., 2864T Madan-Khetarpal, S., 129, 904T, 1744W Madden, P. A. F., 2056T, 2212T Maddren, M., 3612W Madhoun, M., 3098F Madhusoodanan, J., 1183T* Madjunkova, S., 2983T Madore, A.-M., 1941W Madore, S., 966T Madrigal, I., 2624F, 2630F, 2940F, 3217W* Madsen, J., 266 Maeda, K., 52, 2823F Maeda, S., 2051F, 2071T Maeda, T., 1833W, 3432T*, 3519T Mäenpää, H., 1253F Maer, A., 2973T, 3023T Maes, H. H., 2277W Maestrale, G. B., 2062T Maffei, P., 2702T, 2703F Maffeo, C., 775W Maga, M., 821F Magadi Gopalaiah, V., 523F* Magalhaes, W., 3562W* Magalhaes, W. C. S., 3325F Magaña, J. J., 3124F, 3226F Maganzini, D., 3680W Magdelaine, C., 2694F Mage, D. T., 86 Mager-Heckel, A. M., 329 Magi, R., 108, 2123F, 2144F Mägi, R., 119, 190, 1308T, 1954T, 2076W*, 2137T, 2147F MAGIC (Meta-Analyses of Glucose and Insulin-Related Traits Consortium) Investigators, 2106W Maglio, C., 1271F Magliocca, S., 2916F Maglott, D., Session 77, 1762W, 3582W, 3625F*, 3732W Magnani, C., 1153T Magnani, J. W., 1585T Magnani, M., 760W Magnus, P., 3028T Magnusson, P. K. E., 991T, 2105F, 2505W, 3442T, 3452T Magot, A., 3066F Magoulas, P., 300 Magoulas, P. L., 952T Magri, S., 2764W Magrini, V. J., 2587T Maguire, J., 290 Maguire, M., 497F Magyari, L., 3283F Mahadevan, S., 3495T Mahajan, A., 49*, 119, 169, 190, 1308T, 2070W, 2076W, 2116T, 2137T Mahajan, V. B., 2750T* Mahamdallie, S. S., 1211F* Mahaney, M., 1280W Mahaney, M. C., 2308T, 2309F, 3434T Mahaut, C., 127 Mahdavi, M., 1718W, 2964F* Mahdieh, N., 57 Maher, B. H., 2916F Maher, B. S., 2500T, 2504F Maher, E. R., 2955F Mahesh, A., 1719W Mahmood, H., 2570F Mahomva, C., 1845W Mahon, L., 876T Mahon, P. B., 2391W* Mai, M. Q., 1723W Mai, P. L., 210, 1064F* Maia, S., 3019T Maiburg, M. C., 3164F Maier, A. B., 1436W Maier, C., 28, 1001F, 1080W*, 1214F Maier, W., 3203W Maiers, M., 3330T Maiese, D. R., 1566T Maili, L., 1908W Maillard, A., 62, 299 Maillet, P., 1268F Maisenbacher, M. K., 73 Maiti, A., 1572T Maiti, A. K., 307* Maiti, R., 3582W, 3625F Maitland-van der Zee, A.-H., 609T Maiwald, S., 1604T Majewski, J., 701F, 706T, 752T, 2790F, 2794W, 3595F Majid, S., 2743W* Majounie, E., 2648F* Majumder, P. P., 3343F Mak, A., 1694T* Mak, S. K., 803W Makareeva, E., 222, 2853F Makarov, V., 1530T Mäki, M., 2023T, 2177F Makino, S., 373, 563F*, 1574W Makishima, S., 2009F Makita, Y., 2758W Makkapati, V., 3316F Makke, B. J., 2249F Makowski, C., 2917W Makri, A., 5 Makrythanasis, P., 84, 561F, 2937F*, 3431T Maksymowych, W., 448W Malan, V., 889W, 915W*, 3172F Malarstig, A., 503F Malasky, M., 30, 1218W, 1517W Malats, N., 1091F Maldonado-Rodríguez, M., 3124F Malecki, M., 1020W, 3015T* Malecki, R., 1020W*, 3015T Malek, J. A., 2933T, 3399W Malerba, G., 1361W, 2548T*, 2659T Maleszewski, J. J., 2906T Maleva, I., 2983T Malfait, F., 128, 129, 2225F* Malheiro, A., 1762W Malhotra, A., 2124W* Malhotra, A. K., 264 Malhotra, D., 480W, 2576F Malhotra, N., 2967T Malicdan, M. C., 755W*, 2870T Malig, M., 12, 14, 278, 375 Malik, J. M., 3078F Malik, N. A., 2920W Malik, R., 1313W Malinowski, A., 3013T Malinowski, J., 2042F* Maliszewski, K., 432W Malki, N., 1707T Malkin, D., 1055F, 3142F Malladi, V., 3612W Mallarino, C., 1876F Mallempati, K., 2951T Maller, J., 176, 1513F Malley, J. D., 1363F Mallick, S., 3372T Mallott, J. M., 362* Malloy, M. J., 1694T Malloy-Diniz, L., 2404T Mallya, K. S., 639T Maloney, K. A., 384 Malta, F. S. V., 182, 1573F Maltête, D., 345 Malukiewicz, J., 3251W Malvehy, J., 1053W Malzac, P., 2792T Mamaeva, O., 2759T Mamaï, O., 1751W, 2744T* Mamarabadi, M., 3197W Mambelli, L. I., 1102T* SPEAKER AND AUTHOR INDEX *Presenting Author

382 380 SPEAKER AND AUTHOR INDEX Mamchoui, K., 2840T Mampilly, G., 911W Mampilly, T., 911W Mamula, K. A., 1649T Manabe, R., 2891T Manak, J., 422W Manak, J. R., 419F Mancardi, G., 2095T Manchia, M., 2342F Mancini, G., 124 Mancini, G. M. S., 214, 405* Mancini-DiNardo, D., 1021T* Manco-Johnson, M. J., 2330F Mandal, D., 28, 1040F, 1081T*, 1214F, 1454W Mandal, R. K., 1123T Mandegar, M. A., 1620T Mandel, J.-L., 1800F* Mandell, J., 1226F Mandell, J. B., 1089W Mandelman, D., 3719F Mandl, K. D., 1836F Mane, S., 2444F Maneval, D. R., 1304W Manganelli, G., 2629T Mangino, M., 1653T, 2116T, 2175W Mangold, E., 1512T, 2102F Mangolin, R., 2373W Mangravite, L., 615T Manhart, A., 3319F Manickam, K., 103, 456W Maniezzo, N. M., 1187F Manjarrez-Orduño, N., 306* Manjunath, S. H., 824F Mankodi, A., 711F Manley, W., 2426F* Manlhiot, C., 1704T Manly, J., 343 Mann, G. J., 212 Mann, K., 906T Mann, M., 2010W Mann, S. S., 2072F Mann, T., 3710W Mannens, M., 1616T Mannens, M. M., 681F Mannens, M. M. A. M., 3650W Mannermaa, A., 1114T, 1125W Mannhalter, C., 1603T Mannick, K., 299 Mannik, K., 62 Männikkö, M., 1892F Manning, A., 249, 269, 1151F Manning, A. K., 48, 50, 173, 176*, 1373W Manning, J., 2255F Manning, M., 3053W Mannini, L., 2695W Manoharan, A. P., 2091W Manokhina, I., 1760W* Manoli, I., 674T*, 721F, 738T, 2683W Manolio, T., 1447F Manolio, T. A., 2155T Manouvrier-Hanu, S., 3172F Manrique, C. P., 2049W Manschreck, C., 998F, 1159T Mansfield, B. C., 2712F Mansoori, M. M., 1096T Mansoori Derakhsham, S., 779W Mansour, S., 127, 129 Mansouri, M., 3246F Mantero, F., 2708T Mantha, K., 378 Mantripragada, K. K., 2405F* Manuck, T., 1904F Manuel Gonzalez, J., 506W Manyam, S. R., 2351F* Manzaneda, F., 2033F Manzaneda, J., 2033F Manzardo, A., 3089W Manzi, S., 2099F Manzi, S. F., 634T* Manzoni, M., 3256F Mao, J., 3029T Mao, J.-H., 984W Mao, L., 2910F Mao, M., 1369F, 2684T* Mao, R., 689F, 3637F Mao, X., 3604W Maples, B., 3360T, 3361F, 3380W, 3563F* Mapua, C., 2466W Mapua, C. A., 2473T Maqsood, M. I., 2959W Mar, L., 145, 1810F* Maragh, S., 818F* Maranda, B., 2790F Maranian, M. J., 209 Marano, L. A., 3277F* Maranville, J., 248* Maranville, J. C., 2021F Marasca, G., 685F Marasco, E., 306 Maray, T., 3336T Marazita, M., 2034W, 2325W, 3609F Marazita, M. L., 1315F, 1464T, 1472W, 1474F, 1512T, 1936T, 1937F, 2142W, 2156F, 2178W, 3028T Marble, M., 124 Marca, V., 2453F Marcelli, M., 113, 177, 186, 1451W, 1516F March, M. E., 1996T* Marchan, R., 1335T Marchand, L., 5, 141 Marchani, E., 1918T* Marchegiani, S. M., 2938W* Marchetti, F., 984W Marchini, J., 90, 91, 1484W, 3360T, 3384T Marcia, L., 823F, 847F* Marcinkowska, M., 1745W* Marder, K., 442W, 2547W Mardis, E., 1203W, 1210T Mardis, E. R., 244, 2587T Marduel, M., 1607T Marenholz, I., 2102F Mares, J. A., 2020T Margadant, C., 2848W Margalioth, E. J., 2991T, 2993T Margaritte-Jeannin, P., 1361W, 1461T, 1941W, 2079W Margolis, R. L., 2644T Margraf, R. L., 2720T, 2951T*, 3638W Margulies, D. M., 1769W, 1799W, 1836F, 1843W Margulies, E., 3663F Mari, B., 513F, 817F Mari, F., 2604W Mari, J. J., 2533T, 2534F Mariage, L., 3216F Mariani, J., 334 Maric, I., 1259F Mariette, X., 2084F Marinelli, M., 2164T Marini, J. C., 222, 2853F Marini, M. G., 2001W Marini, N., 75 Marion, M., 2143T Marion, M. C., 1979F Marion, V., 2887W Mariot, V., 2840T Mariotti, C., 2764W Maris, J. M., 2203T Maristany, M., 2578T Marjan, E., 1108T Marjanovic, D., 3286F Marjoram, P., 2153F Mark, K., 14 Markaki, Y., 3500T Markello, T., 359, 2610W, 2870T Markello, T. C., 2938W, 3543F Markianos, K., 8, 452W, 2811F, 3219W Markowitz-Shulman, A., 670T Marks, H., 2945T Markunas, C., 1919F* Markus, B., 2931F Markus, H. S., 1313W Markward, N. J., 642T Marle, N., 2729T, 2792T Marles, S., 491F Marlin, R., 32, 1222T Marlin, S., 126, 127, 2727F Marlton, P., 1042T Marmol, B., 977W Marmoset Genome Sequencing and Analysis Consortium, 3270T Marongiu, M., 547F, 823F*, 847F, 1516F, 2001W Maroo, A., 3616W Maroofian, R., 3201W Marostica, A., 2659T Marosy, B., 3704W, 3716W*, 3731F, 3733F Maroun, L. E., 2411F Marqueling, A. L., 2926W Marques, A. A., 1037F Marques, F. A., 1880F* Marques, I., 2631W Marques, J. H., 3184F Marques, W., Jr., 2425T Márquez-Luna, C., 48 Marrero, A. R., 994T, 1405F*, 1946F Marrosu, M. G., 157 Marruso, G., 2812W Marschall, C., 3539F Marsh, C. B., 626T Marshall, C. R., 175, 460W, 2575T, 2932W, 3086F, 3095W Marshall, J. D., 2702T Marshall, K., 2158T, 2782W Marshall, P., 1848W Marsidi, A., 1682T Marsit, C., 3465T Marsit, C. J., 3629F Martell, S., 2977T Martelli, L., 941W* Martemyanov, K., 2801T Marth, G., 41, 3606W Martin, A. L., 916T* Martin, A. R., 371*, 3411W Martin, B., 10, 3213W Martin, C., 713F* Martin, C. L., Session 77, 917W Martin, E., 1544W, 1681T, 2820F, 3170F Martin, E. R., 344, 347, 1571W, 1957T, 2445W, 2498F, 2508W, 2572T, 2583W, 2586W, 2603F, 2614T, 2637W, 3390T Martin, H. C., 2939T* Martin, J., 2046W Martin, L., 39, 3177W Martin, L. M., 1790W Martin, M., 2217W Martín, M. G., 296 Martin, N. G., 106, 212, 351, 2054F, 2056T, 2133W, 2175W, 2212T* Martin, P., 2231F* Martin, T., 1152W Martinaud, O., 345 Martin-Coignard, D., 3129W Martinelli, B., 691F Martinelli, V., 624T, 2095T, 2781F Martinelli Boneschi, F., 624T*, 2095T Martinet, D., 299 Martinez, A., 3242F Martinez, D., 2614T Martinez, F., 536W Martinez, J., 864T, 3074F* Martinez, J. C., 951W Martinez, R. J., 3390T Martinez, S., 501F Martinez-Agosto, J. A., 361 Martinez-Barbera, J., 2701W Martinez-Barrios, E., 1053W Martinez-Cruzado, J. C., 3315T, 3360T, 3380W Martínez-Cruzado, J. C., 3254W, 3363T Martinez-Jarreta, B., 3364F Martínez-Jarreta, B., 3402T Martinez-Lopez, M. C., 2019W Martinez-Perez, A., 1651T Martinovic, J., 77, 894T, 3129W *Presenting Author

383 SPEAKER AND AUTHOR INDEX 381 Martins, A. S., 2655W Martins, M., 1979F*, 2150F, 2655W Martins, M. T., 852F Martins-da-Silva, A., 1296T Martinuzzi, A., 2799F Martis, S., 652T* Martos-Moreno, G. A., 2711T Marullo, L., 119, 190, 1308T, 2076W, 2137T Maruyama, H., 3229W Marvelle, A. F., 1627T Marwaha, R., 3207W Marx, R., 2677W Mary, P., 3700W März, W., 1595T Marziali, A., 1264T* Marzouka, N., 1881W Masaki, N., 2130W Maschio, A., 113, 177, 1451W, 1516F, 2001W, 2329T*, 3664W Mash, D., 368, 2637W Mash, D. C., 341 Mashevich, M., 858T Maskeri, B., 1515T Maslanski, B., 3002T Maslen, C., 1349W, 1700T* Maslen, C. L., 1743W, 2069F Masliah, J., 124 Mason, C., 2610W, 3464T Mason, C. E., 376*, 1818F Mason, E., 675F Mason, T., 1926W Mason-Suares, H., 338 Masotti, C., 813F Masri, A., 2937F Massam, H., 1500T Massé, K., 841F* Massey, S., 3254W Massicotte, C., 2790F Massie, M. J., 1841W Massimi, L., 2235W Massingham, L., 765W Mastronardi, M., 3689F Masuda, A., 2472W Masuho, I., 2801T Masuno, M., 1795W, 2891T, 3051W Masurel-Paulet, A., 2792T Masys, D. R., 1312F Mata, I., 2538W* Matanovic, A., 2102F Matar, C., 3241W Mateo Leach, I., 110 Materna-Kiryluk, A., 845F Matharoo, K., 1703T Mathavan, S., 3047W Matheny, J., 384 Mathern, G., 267 Matheus, G., 3171W Mathews, C., 1480F Mathews, D., 1826F* Mathews, V., 931W Mathias, R. A., 158, 171, 1425T, 1558F, 1710T, 1900T, 2043W, 2346W Mathiesen, R., 2982T Mathieson, I., 16, 3279T, 3298F* Mathieu, F., 259 Mathieu, J., 2900T Mathieu, M., 3117W Mathieu, P., 1655T Mathieu-Dramard, M., 3109W Matias, R., 2466W Matise, T., 2041T, 2216F Matise, T. C., 1359T, 2042F, 3558W, 3566W Matisoo-Smith, E., 3349F Matisoo-Smith, E. A., 3333T* Matoba, N., 2873T, 2923W* Matoo, S., 1961F*, 1962W Matos, A. H. B., 2655W* Matsson, H., 1976F* Matsubara, Y., 1290T Matsuda, F., 2004W, 2361W Matsuda, H., 2697F Matsui, T., 2174F Matsuishi, T., 724T Matsukawa, T., 233* Matsumoto, A., 2588F, 3118F* Matsumoto, M., 1447F Matsumoto, N., 1290T, 2822T, 2878W*, 3136F, 3230F Matsumoto, T., 2174F Matsumura, Y., 1327F Matsunaga, T., 2882T Matsunami, N., 2397W* Matsuo, H., 663F*, 2371T Matsuo, M., 781W Matsushita, H., 2687T Matsushita, M., 2549F Matsuura, E., 2601W Matsuura, K., 2130W Matta, J., 996W, 1074W Matte, U., 691F, 2825T Matteini, A. M., 2040W Matteson, P., 2216F Matteson, P. G., 2426F Mattheisen, M., 1536T, 2520W Matthiessen, M., 2057F Matthijs, G., Session 20 Mattiello, A., 1712T Mattiske, T., 2640W Mättö, J., 2023T Matullo, G., 1153T, 1712T Matvienko, M., 3528W, 3641F*, 3662W Matyakhina, L., 332 Mauermann, O., 1115F Maues de Paula, A., 328 Maugard, C., 1212W Maurat, E., 716T Maurer, M., 2681T Maurer, M. A., 1255T Maurer-Morelli, C. V., 1903T, 2373W, 2394W, 2655W, 3578W Maury, P., 2945T Maussion, G., 3470T* Mautner, V.-F., 2791W Mavrothalassitis, G., 218 Mawatari, Y., 2130W Maxfield, A. B., 820F Maxfield, K., 3671F Maxwell, A. P., 2307W Maxwell, T. J., 272*, 340 May, A., 3619F May, A. P., 2301W May, M., 2806W May, T., 1837W Mayani, R., 3558W Mayen, D., 928T, 956T Mayén, D. G., 875W, 960T Mayer, F., 691F Mayer, J., 2778F Mayerle, J., 2141F Mayeux, R., 343, 344, 1476T, 1571W, 2040W, 2093F, 2410T, 2498F Mayhew, C. N., 736T Mayne, K., 385, 1305T Mayo, K., 340 Mayo, P., 1286W, 1316W, 1377T, 1671T, 1713T Mayo, V., 9, 2445W Mayr, J., 782W Mayr, J. A., 699F, 2917W Mayr, M., 3723F Maystadt, I., 214, 2810T, 3181W, 3216F, 3218F* Mazery, AC., 104 Mazloom, A., 3016T Mazloom, A. R., 3014T Mazor, M., 2738T Mazur, D., 3698W Mazzetti, P., 2453F Mazzeu, J., 2863W* Mazzeu, J. F., 903W, 961W Mazzilli, M. C., 1330F Mazzini, L., 2775F Mazzola, L. M., 3702W Mazzucatto, l. F., 3099W McAdoo, S., 3018T McAteer, J., 249 McBride, D., 3694W McBride, K., 1680T* McBride, K. L., 1646T McCabe, E. R. B., 1867F McCabe, L., 1867F Mccafferty, S., 2703F McCaleb, M., 804W McCall, S., 3622W McCallie, B. R., 851F, 2968T* McCallion, A. S., 79, 258, 545F, 818F McCandless, S. E., 741F*, 774W McCann, B., 1965W McCann, L., 651T McCarroll, S., 290, 350, 480W, 1325W, 2487W, 2618F McCarroll, S. A., 280, 284, 437F, 1519F McCarthy, L. C., 649T McCarthy, M., 368, 583F, 1440T, 1513F, 2097W, 2162F McCarthy, M. I., 44, 119, 176, 280, 582W, 1308T, 1519F, 1954T, 2076W, 2123F, 2137T, 2147F, 2324F, 3435T, 3441T, 3575F McCarthy, S., 455F, 1518T, 2590T* McCarty, C., 2098T, 3622W McCarty, C. A., 618T, 1312F, 1447F, 2154W, 2240F, 2263T McCauley, J., 151* McCauley, J. L., 270, 2039F, 2049W, 2299T, 3390T McClain, L. L., 2125T* McClaren, B. J., 143 McClay, J. L., 3442T, 3452T McClellan, B., 1316W, 1377T, 1928F, 2037W McClellan, B., Jr., 1671T McClellan, J., 263, 2600F McClellan, R., 3065W McCole, R. B., 444W* McCombie, W. R., 2180F, 2305T, 2587T, 2590T, 3316F McConnachie, A., 1626T McConnell, J. C., 3419T McConnell, M. J., 436W McCord, R., 255 McCormick, C., 369, 2372F McCormick, J. B., 1849W*, 2048F, 2345F McCracken, J. T., 639T McCuaig, C., 778W McCulloch, C. E., 589F McCullough, A. E., 1186T McDade-Walker, D., 3705F McDaniel, L., 370 McDavid, A., 2098T McDonagh, E. M., 633T, 635T* McDonald, J., 1058F McDonald, K., 3 McDonald, K. K., 2946F* McDonald, M., 2057F McDonald, M. N., 2249F* McDonald, M. T., 3 McDonald-McGinn, D., 65, 1494T, 3038F* McDonnell, N., 1663T McDonnell, N. B., 3231W McDonnell, S., 1214F McDonnell, S. K., 986F, 3564W McElhinny, T., 1861F McElligott, J., 949W McElroy, J., 3030T McElroy, S., 605T, 2516F McEntagart, M., 2896W McEvoy, B., 2223W McEvoy, B. P., 2366F McEvoy, M., 2133W McEwen, J. E., 1845W McEwen, R., 503F McFadden, D. E., 2986T McGarvey, S. T., 2159F McGeachie, M. J., 625T* McGee, S., 2901F SPEAKER AND AUTHOR INDEX *Presenting Author

384 382 SPEAKER AND AUTHOR INDEX McGehee, S., 1702T McGhee, S., 1658T, 2065T McGillivary, B., 491F McGinley, C., 1869F McGlynn, K., 213 McGough, J. J., 639T McGovern, D. P., 1381F, 2319W McGowan, B., 3211W McGowan, M., 2761W McGowan, R., 126, 127 McGowan, S., 219 McGowan, S. J., 218, 2746W McGrath, J., 2486F, 2573F McGrath, J. A., 2461T McGrath, J. M., 2576F McGregor, T. L., 247, 631T McGue, M., 1568W McGuffin, P., 2509T McGuffog, L., 207, 208 McGuire, A., Session 25 McGuire, A. L., 430W, 1797W, 1798F McGuire, M., 904T McGuire, M. M., 993W* McGuire, P. J., 669F McGuire, S. E., 3433T McGuire, W., 96 McHenry, T., 1936T McHugh, N., 2160W McInerney, P., 3697F* McInnes, B., 1052F McIntosh, I., 3331F McIver, Z., 1259F McKay, F., 1748W McKay, G. J., 1897T* McKay, J., 1012T McKay, J. D., 1496W McKean, D., 340 McKee, A. C., 2528F McKeigue, P., 1481W, 1895F McKenna, A., 25 McKenney, A., 2033F McKenzie, C. A., 1906T, 2158T McKenzie, K., 303 McKeon, M., 1687T McKew, J., 711F, 1702T McKinney, A., 456W, 912T McKinnon, M., 3135W* McKnight, A. J., 2307W McKnight, D., 2579F McLaren, P. J., 2050T* McLaren, W. M., 3732W McLaughlin, H. M., 2470T McLaughlin, J., 1061F, 1803W* McLaughlin, S., 1244F, 3717F McLean, C., 483F, 3617F McLean, C. Y., 2565W* Mclellan, M., 1203W McLennan, G., 3014T McLeod, D. R., 2800W Mcleod, H., 241 McLeod, H. L., 626T McMahon, F. J., 260, 261, 2622W McMahon, K. L., 2054F McMahon, S. B., 503F McManus, R., 2160W, 2283W McMaster, M. L., 30, 2191T McMillin, M. J., 2740W McMullen, I., 46 McMullen, I. A., 1452T McNally, E. M., 1614T*, 1683T McNamara, S., 171 McNeil, D. W., 1464T, 1474F, 2034W, 2142W, 2156F, 2178W McNeill, N. H., 1684T McPherson, J. D., 135, 1093T, 1227W, 1256F, 1279T McPherson, J. R., 2889F McPherson, R., 1645T, 2236T McQueen, M. B., 2239T McQuillan, R., 1383T, 1481W, 2366F McSweeney, K. M., 339, 2879T* McTague, A., 1773W McVean, G., 16, 285, 472W, 3279T, 3298F McVicar, K., 3119W McWilliams, R., 603T Md-Zain, B. M., 3267T Meaburn, E. L., 3487T Mead, M., 2325W Meader, S., 445F* Means, D., 868T Mearin, M. L., 1330F Mechanic, L., 1543F Mechawar, N., 2482T, 3470T Meck, J., 332 Mecklin, J.-P., 1026W, 1276T Meda, S., 2532W Medeira, A., 3165W Medeiros, P., 2289W Medeiros, P. F. V., 747F, 2642F Medina, E., 2251T Medina, M., 1442W Medina, M. W., 601T, 615T Medina-Gomez, C., 2169W Medina Gomez, M. C., 1334W* Medland, S. E., 351*, 2054F, 2056T, 2505W Medne, L., 1702T, 1781W, 2884W Medrano-Hernández, A., 1131W Meduri, D., 583F Meduri, E., 44, 3441T, 3453T Meehan, B., 1182W Meek, I., 3138F* Meese, E., 515F Mefford, H., 2890W Mefford, H. C., 10, 2789T, 2897T Mefford, J., 1548T*, 2258F Mefford, J. A., 1250F Megarbane, A., 84, 2692W, 2937F, 3241W Meguro-Horike, M., 3497T, 3498T* Mehaffey, M. G., 1068W Mehdi, S. Q., 3322F Mehdipour, P., 1169F Mehravar, E., 682T Mehrdad, K., 777W Mehrotra, P., 2926W Mehrtashfar, S., 1615T* Mehta, A., 492W, 2603F Mehta, A. B., 772W Mehta, D., 1422T, 2483F* Mehta, G., 3558W Mehta, G. R., 3692W* Mehta, L., 3033T, 3145W* Mehta, S., 3172F Mehta, S. G., 3213W Mehta, T. Y., 2731W Mei, H., 459F, 652T, 958T*, 3488T Mei, J., 159, 2617T Mei, R., 369, 2372F Meigs, J. B., 269, 1346W, 2080T, 2106W, 2337W Meijer, I. A., 2591F Meijers-Heijboer, H., 98, 494W, 3200F Meikle, P. J., 2308T Meire, F., 539F Meirelles, O., 276, 1391W* Meisinger, C., 2595W Meisler, M. H., 2463W, 2471F Meissner, A., 380, 2107T, 3450T Meitinger, T., 86, 275, 567F, 582W, 699F, 782W, 2567F, 2568W, 2595W, 2917W Mejia, L., 2705T Mejias, R., 2566T Mejia-Santana, H., 442W Mekonnen, E., 3322F Melaragno, M., 896T, 899W, 3131W Melaragno, M. I., 2533T, 2534F, 3045W* Melbye, M., 1528F, 3028T Melegh, B., 3283F* Melegh, B. I., 3283F Melen, E., 2167T, 2168F Melendez, C., 3377W Meléndez, R., 875W, 960T Melin, B. S., 1372F Melki, J., 54*, 1796W Mellgren, G., 3536W Mellgren, S. I., 2965W Mello, M., 2404T Mellone, S., 2827W Mells, G. F., 153 Melnick, A., 3464T Melnyk, S., 1459F, 3697F Melo, M. B., 426W, 2286W, 2718F*, 2751F Melone, M., 2950W Meloni, A., 823F, 2001W Meloni, I., 2604W Meloni, V., 899W Melton, P. E., 1406W, 2061W* Meltz Steinberg, K., 375* Melzer, D., 2148W Memari, Y., 503F Members of Groupe d Étude des Tumeurs Endocrines, 1293T Members of Mouse Genetics Project, 2725W Menaa, F., 426W Menard, A., 438W Menashe, I., 446W* Mencarelli, M. A., 2604W Menchón, J. M., 2593T Mencikova, A., 2831T Menck, C. F., 814F Mendell, J., Session 76 Mendell, N. R., 1338T Mendes-Júnior, C., 3261T Mendes-Junior, C. T., 3277F, 3280F Mendes-Júnior, C. T., 3375T Mendez, F. L., 3389W* Mendez-Dominguez, N., 2272T Mendez-Ramírez, N., 1030T Mendola, A., 1611T Mendonça, F., 1968W, 2017T Mendoza, L., 1049F Mendoza, R., 3196F Mendoza-Constantino, S. P., 875W Mendoza-Londono, R., 103, 1738W, 3100F*, 3106F, 3183W Mendus, D., 2773W Menelaou, A., 91* Menendez, I., 3125W Meneses-Morales, I., 3504T Meng, W., 2843T Meng, Y., 2307W* Mengel-From, J., 2244W, 2295W Menghini, D., 3087W Mengrelis, K., 2752W Menke-Pluymers, M., 1788W Menni, C., 503F, 2138F Menon, R., 2572T, 3030T Mensenkamp, A. R., 1220F* Mentch, F., 319, 2229W, 2252F, 2872W, 3573F Mentch, F. D., 1997F, 2121W, 2546F Menten, B., 98, 423F, 2387F Mentzen, W., 1516F Menzin, A., 1133F Meola, N., 2950W Merath, K., 1667T* Mercado, D., 2043W Mercado, T., 1036T Mercedes de la Cruz, F., 3363T Mercer, F., 3708W Mercer, K. B., 1422T, 2420F, 2483F, 3480T Mercier, E., 447F*, 517F, 3568W Mercier, S., 2893W, 3066F*, 3170F *Presenting Author

385 SPEAKER AND AUTHOR INDEX 383 Mercimek- Mahmutoglu, S., 717F Merck-Laval-UBC-Groningen Lung eqtl Consortium, 1947W Merckx, D. M. L., 2448W Meredith, G., 3717F* Mergener, R., 879W Merico, D., 2617T Mericq, V., 131 Merideth, M. A., 2838F Merkies, I. S. J., 2448W Merkoulovitch, A., 460W Merla, G., 84, 775W, 3087W*, 3256F Merner, N., 1898F Merrick, C., 1082F* Merrill, A. E., 838F, 2857W Merrill, D., 1195T Merrill, J. T., 1979F, 2046W Merrill, L., 512W, 3517T Merriman, B., 2779W Mersha, T., 578W* Mertz, E. L., 222 Mervis, C. B., 3482T Mesa, R. A., 1017W Meskel, D., 3303T, 3338W Meslin, E. M., 1848W Messaed, C., 2842W Messiaen, L., 1139F, 2791W Messika-Zeitoun, D., 1655T Messinger, Y., 132 Mester, J., 1144T MetaXpress Consortium, 275 Metay, C., 1796W Métay, C., 894T Metayer, C., 2268W Metcalf, J. L., 1046F Metcalfe, S. A., 143* Metlapally, R., 2328W, 3521T* Metrustry, S., 2292W Metrustry, S. J., 2171F* Metsepalu, A., 1284T, 1503T Metspalu, A., 109, 584W, 1163F, 1792W, 1832F, 2144F, 2165F, 2175W, 2366F, 3079W, 3353W, 3460T Metspalu, E., 3286F Metzker, M. L., 244 Meugnier, E., 2278T Meulenbelt, I., 584W Meurer, L., 691F Mewes, H. W., 86 Mexal, S., 1736W, 3535F, 3681F Meyer, A., 1117T, 3425T Meyer, B. F., 2676F Meyer, D., 3292F Meyer, E., 1773W Meyer, F., 691F Meyer, I., 2751F Meyer, K., 376 Meyer, K. B., 209 Meyer, M., 1441F Meyer, N., 2867T Meyer, N. C., 2301W Meyers, J. L., 2022W* Meyers, K. J., 2020T Meyers, L., 3557F Meyle, J., 2058W Meyn, M. S., 1046F*, 1047W, 1050W Meyn, S., 1055F Meza, C., 1336F Mezey, J. G., 1355W, 2933T, 3399W Mhaidat, N., 856T Mhanni, A., 954T Mhanni, A. A., 2422T, 2772F MHC Disease Research Group, 3258T Mhiri, C., 2820F Mhlanga-Mutangadura, T., 2847F Miano, M. G., 505F, 2629T Mias, G. I., 1505W* Micale, C., 3680W Micale, L., 775W*, 3087W, 3256F Miceli-Richard, C., 2084F Micha, D., 809F Michaeel, A., 3210F Michaelides, M., 3212F Michaeli-Yossef, Y., 3048F Michaelson, J., 480W* Michaelson-Cohen, R., 2929W Michailidou, K., 206*, 209, 210, 1150T Michaud, J., 2075F, 2794W Michaud, J. L., 2692W, 2790F Michaux, D., 1205F Michealraj, A., 2941W Michel, L., 29 Michel, M., 642T Micheli, R., 760W Michelini, K., 2 Michelis, L. D., 2958F Michels, V. V., 1695T Michelson, M., 3048F Michelson-Kerman, M., 3174F* Michetti, F., 2235W Michiorri, S., 71 Michot, C., 127 Micliavacca, M. P., 2485T Middha, S., 1214F, 1695T, 3564W* Middlebrooks, C. D., 253* Middleton, M., 133 Middleton, S., 242 Mieczkowski, P., 3659F Miele, L., 1116W Migita, O., 2620T Migliavacca, E., 62*, 84, 415F, 3256F Migliavacca, M., 3131W* Migliavacca, M. P., 2484W Mignot, C., 2770W Mignot, C. C., 2431T*, 2441F Mignot, E., 2543F Mihovilovic, M., 2465F Mikhailov, A., 2398T, 2570F Miklos, D. B., 1112F Mikula, M., 2260T* Mila, M., 2624F*, 2630F, 2940F, 3217W Milan, G., 1985F, 2702T Milani, L., 3460T Milani, P., 2775F Milanova, V., 3477T Milas, M., 1144T Milburn, J., 142 Miles, S., 96 Miles-Mason, E., 168 Milewicz, D., 1789W Milewicz, D. M., 1743W Milgram, R., 1303F Milgrom, R., 2875W Milh, M., 2536T* Mili, A., 1751W* Mili, F., 611T* Milic Rasic, V., 201, 2948T Mill, J., 3471T*, 3476T, 3487T Millan, J., 2947W Millar, K., 3075W* Millen, A. E., 2020T Miller, B., 2249F Miller, B. L., 2639F Miller, D. G., 55*, 2224T Miller, E., 1674T Miller, E. M., 2698W Miller, F. A., 142, 1824F Miller, F. W., 434W Miller, J., 2904F, 3590W, 3717F Miller, J. K., 1279T* Miller, L. L., 1973F, 2010W Miller, M., 2953W Miller, M. A., 494W, 1239W Miller, M. R., 1322W Miller, N., 3490T Miller, N. A., 366, 2793F, 2894T Miller, N. H., 1983W Miller, P., 1107W Miller, R. A., 818F Miller, S., 1937F* Miller, S. I., 2186F Miller, W., 3545F Millikan, R. C., 2202W Millonig, J., 2216F, 2467T Millonig, J. H., 2426F, 3566W Mills, J. L., 2151W Mills, P. B., 167 Mills, R., 147 Mills, R. E., 3251W Mills, T., 2157W Millson, A., 3220F* Millwood, I. Y., 2162F Milne, R. L., 206 Milner, L. C., 1804F* Milon, J., 3170F Milosavljevic, A., 432W, 3433T Milstone, L., 2915T Milz, E., 3214F Mimori, T., 2004W Mimouni-Bloch, A., 731F Min, B., 933W*, 3204F Min, J., 583F Min, J. L., 1522F* Min, W., 947W Mina, D., 2728W Minakuchi, T., 2768T Minakuchi, Y., 2835F Minari, J., 1815W* Minatoya, K., 2697F Miner, T., 2325W Ming, J. E., 819F, 2884W Mingroni-Netto, R. C., 891W Miniati, D., 816F Minillo, R. M., 2484W Minna, J., 1454W Minor, L. B., 2301W Minot, D., 2770W Minster, R. L., 1920W, 1921T, 2159F* Minto, M., 3717F Minx, P., 2320T Miny, P., 3044F, 3109W Miousse, I. R., 719F Mira, M., 1899W Mira, M. T., 1978T, 2289W, 2475W Mirabelli, D., 1153T Miralles, M., 2379W Miranda, D., 2404T Miranda, D. M., 1902W, 2385W Miranda, M. L., 1636T Mirante, T., 2766F, 2774T Mirel, D., 356, 1447F, 1490W, 2098T Mirel, D. B., 1960T Miri Nargesi, M., 1083W* Mirkin, S., 402 Mirkov, S., 613T Miro, X., 105 Mirocha, J., 753T Miron, I., 3013T Mirsattari, S. M., 2779W Miryounesi, M., 1169F, 2987T* Mirzozoda, K., 1898F*, 2410T Misawa, K., 3565F* Mishra, A., 764W, 1287T, 1288F, 1587T*, 1598T Misner, K. J., 1242W Misra, A., 555F Misra, S., 1188W Missmer, S. A., 2077T, 2133W Missoni, S., 1660T Mistri, M., 700T* Mistri, M. A., 2803W Mistry, P. K., 768W, 769W Mitchell, A., 1665T Mitchell, A. A., 2576F Mitchell, A. D., 2218T Mitchell, B. D., 602T Mitchell, E. B., 2575T Mitchell, F., 239 Mitchell, G., 1224W, 1492F Mitchell, J. A., 1307W Mitchell, M. E., 3020T Mitchell, P., 2068T, 2094W Mitchell, S., 1713T* Mitchison, H. M., 216, 809F Mitrovic, Z., 201, 2948T Mitsui, J., 52, 233, 2409W, 2569T Mitsunaga, E., 1505W SPEAKER AND AUTHOR INDEX *Presenting Author

386 384 SPEAKER AND AUTHOR INDEX Mitsunaga, S., 2253W Mitsuuchi, F. N., 2751F Mittal, B., 1137W, 1188W, 1587T, 1598T*, 2293T, 3271F Mittal, K., 2398T, 2525F* Mittal, R. D., 1123T*, 1134W, 1135T Mittal, S., 2967T Mittal, T., 1587T, 1598T Mittelman, D., 469F Mittelstadt, S. D., 696T Mitterling, T., 2567F Mittleman, M. A., 3469T Miura, K., 2748F Miwa, A., 729F Miya, F., 396 Miyachi, H., 1574W, 2747T Miyada, G., 3699F Miyadera, H., 1994F* Miyagawa, T., 2496W, 2656T* Miyahara, R., 1998W*, 1999T Miyakawa, S., 2911W Miyakawa, T., 2550W, 2647T Miyake, K., 2835F Miyake, M., 3146F Miyake, N., 1290T, 2822T, 2878W, 3136F, 3230F Miyamoto, R., 3229W* Miyamura, H., 475F Miyano, S., 396 Miyatake, S., 1290T* Mizokami, M., 2130W, 3682W Mizrahi-Man, O., 2031W Mizumoto, S., 2861T, 3230F Mizuno, S., 1795W, 2758W, 2891T, 3043W, 3094F* Mizuno, Y., 2873T Mizuochi, T., 724T Mizusawa, H., 2371T Mizutani, S., 3091W Mladenov, E., 3500T, 3524T Mlikotic, A., 785W Mlynarski, W., 2703F Mo, F., 491F Moalem, S., 3156F* Moayyeri, A., 2138F Moazami, N., 1056W Mobasheri, M., 1169F Mochel, F., 2539T* Mochida, G. H., 8 Moctezuma-Meza, C., 1168T Modarressi, M. H., 1169F, 2987T Modig, L., 1970F Moe, T., 3034T Moen, E. L., 3472T* Moeschler, J., 3176F* Moffatt, M. F., 1361W, 2102F, 3466T, 3469T, 3486T Moggio, M., 1776W Moghadam, M., 1615T Moghaddam, M., 1961F, 1962W, 2964F Moghaddasi, M., 3197W Mohamdi, H., 1158W Mohamed, A. N., 885W Mohamed-Hadley, A., 1992W, 2492F* Mohammad, A., 1061F Mohammadi, M., 679F Mohammadi Fatideh, M. J., 3083W Mohammed, N., 1352W, 1589T Mohammed, S., 3211W Mohammed, S. N., 218 Mohan, G., 2776W Mohan, R., 481F Mohan, V., 878T* Mohila, C. A., 834F Mohlke, K. L., 46, 117, 292, 304, 1427W, 1608T, 1627T, 1954T, 2012F, 2090F, 2123F, 2147F, 2241W Mohr, D. W., 79, 1254W Mohsen, A.-W., 662T, 733F Moi, P., 2001W Mokhonova, E., 1685T Mokhtarani, M., 774W Mokrejsova, M., 3437T Molck, M. C., 959W* Mole, D., 509F Molecular Genetics of Schizophrenia Consortium, 2576F Molenda, A., 1257W Molfetta, G. A., 1037F*, 1038W, 2813T Molina, B., 875W, 928T, 960T, 976T, 1048T Molina, F., 2685F Molina, J., 2672T Molina, L., 2685F Molina-Gomes, D., 890T Molineros, J., 3253F* Mollema, N., 2625W* Møller, LB., 702T Moller, M., 2217W Möller, M., 2007W*, 3385F Mollet, I., 47 Møllgård, K., 805F Mollon, J., 2082W Mollon, J. E., 1470T* Momčilovič, D., 2438F Momigliano-Richiardi, P., 2827W Momin, S., 1108T Momma, K., 755W Momohara, S., 2004W, 2287T Momoi, M. Y., 2588F, 3118F Monare, L. R., 1085F Moncaster, J. A., 2528F Moncla, A., 2792T Monda, K. L., 2131T Mondal, A. K., 2011T Mondal, K., 2312F Mondesert, B., 1678T Mongini, T., 1776W Mongrain, I., 3401W Moninger, T. O., 404 Monk, D., 3499T Monlleó, I. L., 479F, 2270F Monlong, J., 567F Monnot, S., 72 Monos, D., 2904F Monos, D. S., 1915T Mønsted, S., 3641F, 3662W Montaño, A., 786W Montazer Zohori, M., 2013W Monte, T. L., 2424W, 2626T Monteiro, A. N. A., 1156T Montenegro, M. A., 2393F Monterrubio-Ledezma, C. E., 3188F Montesclaros, L., 3690W Montgomery, C. G., 529F, 1895F, 2084F, 2188T Montgomery, G., 1072T, 2165F Montgomery, G. W., 212, 351, 2054F, 2056T, 2077T, 2133W, 2212T Montgomery, S., 568W, 2372F Montgomery, S. B., 369, 371, 527F, 547F, 561F, 3411W Monti, E., 3256F Montiel, M., 951W, 3074F Montine, T., 2498F*, 2538W Montine, T. J., 2646W Montpetit, A., 277 Montsaroff, S. Z., 195 Moody, H., 1773W Moog, U., 300, 2403W, 2595W, 3111W Mook, O., 1616T*, 3650W Mook, O. R., 681F Mookherjee, S., 2680W* Mook-Kanamori, D., 2162F Mook-Kanamori, D. O., 228 Moon, J., 866T, 867W, 3112F*, 3473T* Moon, J. W., 3423T Moon, S.-U., 2834T Moore, A. T., 2072F, 3212F Moore, B., 195, 3561F Moore, B. T., 3081W Moore, C., 3542W Moore, C. B., 3624W* Moore, D. T., 1245W, 3527F, 3687F Moore, G. E., 303, 2752W, 2755W, 3501T, 3508T Moore IV, H. E., 2543F Moore, J., 3465T Moore, J. C., 2433W Moore, J. H., 188, 1339F*, 1453F, 3275W Moore, L., 1012T Moore, L. E., 1092W Moore, L. G., 3290W Moore, M., 2148W Moore, R., 3642W* Moore, S., 2945T Moore, S. J., 454W Moorman, A. V., 1024T Moors, T., 774W Moortgat, S., 3181W, 3216F, 3218F Moosavi, A., 1726W* Mooser, V., 106, 1281T Mootha, V. K., 326 Mora, L., 3035W* Mora, T., 597F Morad, T., 1165T Moradi Chaleshtori, M., 892T* Moraes, E., 2404T Moraes, M. O., 2289W Morais, S., 2818W Morales, A., 1681T* Morales, L., 1074W Morales, M. A., 1770W Moralli, D., 509F Moran, J., 1325W, 2487W Moran, J. L., 290, 2618F Moran, K., 140 Morandi, L., 1776W Morava, E., 672T* Morcet, J., 2126F Moreau, A., 1784W, 2234F Moreau, C., 1478W Moreau, M., 2114F, 2170T Morehouse, R., 107 Moreira, B. C., 2434T Moreira, M., 896T, 899W Moreira-Filho, C., 899W Moreland, L. W., 2047T Morell, R. J., 2724F Morello, R., 2854W Moreno, L., 2325W Moreno, L. M., 1564F, 1937F Moreno, O., 951W, 3049W Moreno, S., 259 Moreno, T., Session 9, 1825W Moreno-De-Luca, A., 2439W* Moreno-De-Luca, D., 13, 917W Moreno-Estrada, A., 186, 3352F, 3380W Moreno Estrada, A., 2033F, 3360T, 3390T* Moreno-Garcia, M., 848F* Moreno-Macías, H., 48 Moretti, E., 3050F Morfopoulou, S., 3600W* Morford, L., 1147T*, 2243F Morgan, A. T., 3228F Morgan, C. T., 1705T Morgan, D., 385 Morgan, D. J., 1305T Morgan, J., 983F Morgan, T., 730T*, 3030T Mori, K., 2129F Mori, M., 2873T Morice-Picard, F., 473F Morigaki, R., 52 Morimoto, M., 2849T* Morimura, T., 234 Morin, C., 778W Morin, G., 3117W Morino, H., 3229W Morioka, I., 729F Morisaki, H., 2697F* Morisaki, T., 2697F Morishita, S., 2409W, 2569T Morissette, R., 1663T* Morita, M. E., 2394W Morita, S., 1290T Moriuchi, H., 1999T *Presenting Author

387 SPEAKER AND AUTHOR INDEX 385 Moriyama, N., 3136F Moriyama, Y., 2873T Morizono, H., 669F Morizono, T., 2051F, 2174F Morken, M. A., 304 Morlan, J., 1198T Morleo, M., 2810T Morley, K., 101, 364 Morley, K. I., 35, 291 Morley, M., 535F Moroi, S., 2135F, 2154W Moroi, S. E., 2240F, 2263T Morren, M.-A., 2926W Morris, A., 119, 2077T Morris, A. D., 609T Morris, A. P., 49, 111*, 169, 190, 269, 1308T, 1954T, 2070W, 2073W, 2076W, 2123F, 2133W, 2137T, 2147F Morris, C. A., 3482T Morris, D., 2590T Morris, D. L., 3382F Morris, J. A., 37* Morris, M. A., 1874F Morris, N., 1376W Morris, N. J., 1575T Morris, R. W., 1626T, 3390T Morrison, A., 349, 1346W Morrison, A. C., 121, 174*, 1585T Morrison, B. E., 508W, 565F Morrison, C., 3428T Morrison, H., 4 Morrison, J., 1477F* Morrison, K. E., 348 Morrison, M., 385 Morrison, M. A., 1305T, 2183F Morrison, S. M., 1859F* Morrissey, K. M., 246 Morrow, B., 1494T, 1658T, 3531F Morrow, E. M., 8, 452W Morse, M., 1869F Mortensen, A. H., 1878W Mortier, G., 79, 98 Mortier, G. R., 80, 298, 3129W Mortlock, D. P., 837F, 3275W Morton, C., 2562W Morton, C. C., 68, 70, 82, 284, 554W, 862T, 2056T MOSAIC and GenISIS Investigators, 1507F Mosca, S., 3095W* Mosca-Boidron, A.-L., 2729T, 2770W, 2792T Moseley, K., 237 Moser, A., 722T Moser, K. L., 1979F, 2046W Moser, M., 368 Moser, T., 1, 59 Moser Sivils, K., 529F, 2084F, 2188T Moses, D., 2916F Moses, E., 1280W Moses, E. K., 1282F, 1406W, 2061W, 2309F Moskovtsev, S., 2982T Moskowitz, I. P., 82 Mosley, J. D., 1345F* Mosley, T. H., 1592T Mosnier, J. F., 1204T Mosor, M., 1184F Moss, A., 2804T Mosser, J., 2126F*, 2893W, 3170F Mostacciuolo, M. L., 1732W, 2799F Mostafavi, S., 369, 2372F* Mostile, G., 2763F Mota, F. M., 2288F Motahari, B., 1056W, 1124F* Motahari, M. M., 3163W Mota-Vieira, L., 2288F, 2814F* Motazacker, M. M., 2205W* Motghare, P., 307 Motley, C., 133 Motovalibashi, M., 1421W Motoya, S., 2174F Motoyoshi, Y., 3091W Mott, R., 355 Motti, J. M. B., 3362W Motulsky, A. G., 1605T Mou, Y., 1251W Mouanoutoua, M., 1146W, 1195T Mouassess, F., 1490W Mouga, S., 2417F, 2502W Mougou-Zerelli, S., 403, 944T Moult, J., 499F Moulton, K., 3700W Mouly, V., 2840T Mountain, J., Session 9, 179, 1825W Mountain, J. L., 114, 626T*, 1017W, 1782W, 1838F, 2087F, 2089T, 2100W, 2111F, 2115W, 2149T, 3386W Mourah, S., 29 Mouri, K., 2380T Mouritzen, P., 1194W* Mousavy Gharavy, S., 2701W Moustafa, K., 259 Mouton, S., 104 Moutsianas, L., 169 Mouzaya, F., 3349F Movva, S., 1720W, 2754F* Mowat, D., 843F, 3167W Mowery-Rushton, P. A., 3101W* Mowrey, P., 953W Mowrey, P. N., 945W Mowry, E., 1289W, 1301W, 1414F* Moy, T. F., 1652T Moy, W., 1282F Moya, P. R., 261* Moylan, C., 531F Moysés, M., 3131W Mozaffar, T., 3213W Mrkonjic, M., 3478T Mrowietz, U., 154 Msilaty-Gross, S., 731F Mucaki, E. J., 3672W Mucci, T., 3033T Muchmore, B., 1155W Mudd, P. N., Jr., 732T Muddashetty, R., 540W Mudgal, P., 2332T Mudge, J. M., 367* Mueller, D., 628T Mueller, D. M., 326 Mueller, K. L., 1973F, 3735F Mueller, U., 2416T* Mugge, S., 2493W Muglia, L., 3030T Mugnaini, E., 2427W Mugneret, F., 2729T Mugniery, E., 763W Muhammad, E., 1588T* Mühleisen, T. W., 259 Muilu, J., 3610W Muir, K. R., 2292W Mujahid, S., 3211W Mukaddes, N. M., 8 Mukerji, M., 3332W Mukhatira, P., 3656W, 3703F Mukherjee, S., 17, 264*, 342, 1514W Mukherjee Dey, S., 1097F Mukhopadhyay, N., 253, 1315F, 2178W* Mulas, A., 113, 157, 177, 547F, 1451W, 1516F, 2198F, 2329T Mulchandani, S., 3082F Mulder, F., 431F Mulder, L., 3310F Mulle, J., 2069F Mulle, J. G., 66, 1349W, 2312F, 2576F* Mullegama, S. V., 103* Mullen, L., 1256F Muller, A., 684T, 1949F Müller, B. F., 782W Müller, C., 275, 1669T, 2759T Muller, R., 3720W* Muller, S., 3316F Müller, T., 201, 2948T Müller, U., 2581T Muller, Y. L., 1300F* Muller-Cohn, J., 3720W Müller-Myshok, B., 2483F, 2568W Müller-Quernheim, J., 2103W Mullighan, C. M., 31 Mulliken, J. B., 83 Mulliken, N., 1015T Mullikin, J., 358, 1515T, 3306T Mullikin, J. C., 1690T, 1696T, 2938W Mullin, K., 2520W Mullinax, B., 975W Mullins, J. G., 262, 2821W Mullins, M., 626T, 2087F Mullins, M. E., 2127W* Mullins, R. F., 2215T Mulukutla,.S., 2083T Mulvihill, J., 1875F* Mumm, S., 2864T Mumoli, L., 2780T Mumy, A., 1092W, 1094F, 1155W* Munafo, D., 512W*, 3517T Munafo, D. B., 3702W, 3715F Münchau, A., 200 Munchel, S., 596W, 1238F Mundlos, S., 298 Mundorff, J., 1958F Mundwiller, E., 2820F Mungall, C. J., 2725W Munger, R., 1564F Munger, R. G., 1472W, 3643F Munhoz, R. P., 2475W Munier, P., 522W Munir, K., 1746W Muniz, Y. C. N., 994T*, 1405F, 1946F Munnich, A., 72, 104, 126, 127, 202, 324, 325, 329, 390, 403, 522W, 763W, 915W, 2808F, 3129W, 3172F, 3240F Muñoz, X., 987W Muñoz-Montero, S., 1129T Munroe, P. B., 1659T Munshi, A., 224* Munson, J., 2406W Munson, P., 584W Munson, P. J., 260 Muntoni, F., 2812W Munzel, T., 1669T Munzy, D., 2908W Muona, M., 2898F* Mur, A., 3217W Murabito, J., 2165F Murabito, J. M., 2336F Murakami, T., 2836W Murakami, Y., 298, 2559W Murali, R., 998F, 999W Murali, S. G., 710T Muramatsu, Y., 3094F Murata, K., 2130W Murata, M., 2619W Murayama, K., 2873T Murayama, S., 52, 2409W Murdoch, B., 250 Murdock, D., 2802F Murdock, D. G., 1713T Mureau, M., 1788W Murgia, A., 1755W, 2795T Murgia, F., 2062T, 2128T* Muroya, K., 1795W, 2891T Murphy, A., 2014T Murphy, A. B., 1009T Murphy, D. L., 261 Murphy, H., 127 Murphy, K. G., 1834F Murphy, P., 3125W Murphy, S., 531F Murphy, T., 750T Murphy Bollinger, J., 1829W* Murray, A., 1021T, 2148W, 2165F Murray, D., 1854F* Murray, J., 1882T, 2325W, 3030T, 3537F SPEAKER AND AUTHOR INDEX *Presenting Author

388 386 SPEAKER AND AUTHOR INDEX Murray, J. C., 74, 94, 1344T, 1472W, 1512T, 1564F, 1937F, 2762T, 3028T Murray, R. F., Jr., 1821W Murray, S., 983F Murray, S. S., 2274W Murray, T., 1472W, 2043W Murtha, A., 3 Murtha, M., 2605T Murty, V. V., 1031F Murugan, A., 597F* Musani, S., 178, 350, 2063F, 2210F Musani, S. K., 2275T* Muscat, J. E., 1016F, 1107W Musci, T., 2978T* Musharoff, S., 3352F, 3361F* Mushiroda, T., 627T Musio, A., 2695W* Musk, A. W., 1465F Musolf, A., 1359T* Mussini, J. M., 3066F Musson, D., 784W Mussotter, T., 939W* Mustalahti, K., 2177F Mustapha, M., 1878W, 2773W* Mustill, W., 2966T* Mutai, H., 2882T Mutarelli, M., 2950W Mutesa, L., 925W*, 3104F MuTHER Consortium, 44, 583F, 1440T, 2187W Muthusamy, B., 3316F Muthuswamy, S., 2446T* Muti, C., 56 Muto, K., 1819W, 1830F*, 1833W Muzny, D., 174, 183, 360, 1585T, 1599T, 1742W, 2798T, 2880F*, 2934F, 3597F Muzny, D. M., 3, 314, 595F, 648T, 1221W, 1735W, 1757W, 1761W, 2413T, 2883F Muzzio, M., 293, 3362W*, 3380W Mychaleckyj, J., 1971W, 2210F Mychaleckyj, J. C., 1662T, 2313W Myerburg, R. J., 86 Myers, A., 380 Myers, L., 80 Myers, M., 1059W* Myers, R. H., 1964F, 2116T, 2227T, 2643W Myers, R. M., 2556W Myers, S., 181, 3360T Myers, S. M., 2439W Myhre, R., 3028T Myking, S., 3028T Myllymäki, M., 3297T Myouzen, K., 2004W* Myres, N., 3321T*, 3340F, 3365W Mysliwiec, V., 2221T Mysore, J. S., 1964F Myung, C., 2849T N Naab, T., 1242W Näbauer, M., 86 Nabbout, R., 202 Nabika, T., 1333F Nacak, M., 1402F, 1935W, 1938W* Nadeau, K., 2322W Nadel, L., 2529W Nadel, M., 3656W, 3703F Nadif, R., 1461T* Nading, E., 2328W Nadji, A., 2150F Naeem, T., 2920W Naess, K., 672T Nafisi, S., 2436W Nag, A., 335, 2068T* Nagai, A., 1833W Nagai, J., 3051W Nagai, T., 1631T Nagamani, S., 165, 3209W Nagamani, S. S. C., 433F Naganawa, M., 914T Nagao, T., 2747T Nagappa, J., 2411F Nagaraja, R., 276, 2001W Nagaraju, K., 2452T Nagasaki, M., 396 Nagashima, T., 2264F Nagaswamy, U., 648T Naggert, J., 2702T Nagy, A., 3463T Nagy, M., 3364F, 3402T Nagy, Z., 2767W Nah, H.-D., 2856F Nahab, F., 347, 2603F Nahum, O., 977W Naides, S. J., 2260T Naidich, T. P., 168 Naidoo, D., 615T Naidu, S., 3065W Naim Bushra, M., 930T Naing, B. T., 1697T Nair, R. P., 154, 1952F Nair, S., 2731W Naito, Y., 3221W Naitza, S., 1516F, 2198F Naj, A., 2637W Naj, A. C., 342, 344*, 2498F, 2583W, 2586W Najfeld, V., 3488T Najmabadi, H., 2301W Naka, I., 1327F* Nakabayashi, K., 3499T* Nakachi, Y., 2873T Nakada, T. A., 1632T Nakagama, H., 396 Nakagawa, H., 396 Nakagawa, M., 52 Nakahira, K., 475F Nakahori, Y., 3337F Nakamori, M., 2824W Nakamura, H., 396, 1998W, 1999T Nakamura, M., 663F Nakamura, R., 3221W Nakamura, T., 663F, 1317T, 1549F, 2607W, 2616W, 2823F, 3043W Nakamura, Y., 396, 627T, 1277F, 1552F, 1631T, 1643T, 2004W, 2051F, 2133W, 2174F, 2506T Nakano, K., 396 Nakano, M., 2129F* Nakano, N., 2559W Nakaoka, H., 2253W* Nakashima, H., 663F Nakatome, M., 1321F Nakayama, A., 663F Nakayama, J., 3230F Nakayama, K., 2009F Nakhla, M., 1108T Näkki, A., 2134T* Nalbandian, A., 757W, 3213W, 3249W* Naley, M., 133 Nalls, M., 2063F Nalls, M. A., 2148W, 2611T Naluai, A. T., 1970F Naluai-Cecchini, T., 940T Nam, M., 866T, 867W*, 3112F Namavar, Y., 197 Nampoothiri, S., 3240F Nance, T., 527F Nancy, A., 931W Nanda, V., 2216F Nanko, S., 2652W Napierala, D., 2854W Napoletano, S., 71 Napolitano, F., 3631F Narayanan, D., 2224T Narayanan, V., 3215W Narimatsu, H., 1549F Naritomi, K., 2758W Narkis, G., 2931F Narod, S., 1061F Naruto, T., 2891T, 3051W Narzisi, G., 2587T Nascimento, D. R., 2655W Nascimento, L., 1899W* Nascimento, L. M., 1978T Nash, D., 3671F Nashi, E., 306 Naslavsky, M. S., 1727W* Nasonkin, I., 827F Nass, R. D., 3113W Nassar, N., 231 Nasser, M., 3157W*, 3241W Nassir, R., 2360F Nasuti, A., 2300F Nath, S., 1572T, 3253F Nath, S. K., 307, 2351F, 2731W Nath, S. R., 764W* Nathanson, K. L., 213, 1003T Nathanson, L., 341 Nato, A. Q., 2216F, 3558W, 3566W* Natoli, J., 1866F Nätynki, M., 1611T Naughton, B., 483F, 3386W, 3617F Naughton, B. T., 179, 498W, 1223F*, 1620T, 1838F Navarrete, J., 694T* Navarrete Meneses, M. P., 872T, 1022F* Navarrete-Meneses, P., 1131W Navarro, B., 3266W Navarro, L., 3706W Navarro, P., 1383T, 1481W Naviaux, R., 534W Navin, N., 1258T Navon, O., 3623F Navon, R., 3588W Nayak, G., 2663T*, 2724F Nayak, R., 1506T* Nayak, U., 1662T Naydenov, C., 2151W Nayernia, K., 2987T Nazarenko, I., 678T, 2926W Nazemi, A., 1083W NCI Breast and Prostate Cancer Cohort Consortium, 1390F Ndumele, C. E., 272 Neal, C. O. S., 1310W* Neal, D., 1011W Neal, D. E., 1148F Neale, B. M., 280, 290, 1523W, 2618F* Neale, G. A., 2331W Neary, J., 2651F Neas, L., 1636T Nebel, A., 515F, 1943F, 2103W, 2295W, 2303F Neben, C. L., 2857W* Nebert, D. W., 487F, 2800W Nedelea, F. M., 2728W Neel, B. G., 135 Neeradha, C., 911W Nees, S. N., 845F Neff, F., 2922F Neff, M. W., 2517W Neff, T., 1237T Negretto, C., 896T, 899W Negroni, E., 2840T Neidich, J. A., 1736W NEIGHBOR Consortium, 2135F, 2263T NEIGHBOR Consortium Investigators, 386 Neill, N. J., 884T Neison, M., 1491T Neiswanger, K., 1315F Neitz, J., 3212F Neitz, M., 3212F Neitzel, L., 819F Nekrutenko, A., 3547F Nelakuditi, V., 1683T, 1737W Nelen, M., 1749W, 3650W Nelen, M. R., 1734W Nelis, M., 2937F Nelissen, F., 2696T Nelson, A., 3340F Nelson, B., 12, 825F Nelson, C., 767W, 1595T, 1698T, 3453T Nelson, C. P., 119, 1308T, 2076W, 2175W *Presenting Author

389 SPEAKER AND AUTHOR INDEX 387 Nelson, H. H., 1229F Nelson, M., 294, 1686T, 2087F Nelson, M. R., 476W, 641T, 649T, 3282T, 3406T Nelson, R., 3671F Nelson, S., 1447F Nelson, S. F., 296, 315, 361, 471F, 1685T, 2874F, 3666W Nelson-Moseke, A. C., 1087T* Nelson-Williams, C., 1241F, 2779W Nemat-Gorgani, N., 3710W Nematollahi-Mahani, A., 413F Nemesure, B., 1003T Neogi, A., 1719W* Neph, S., 255 Nerella, S., 3442T, 3452T Neri, M., 1153T Nerkizian, N., 3700W Neshan, M., 2976T Nesheva, D. V., 923W Ness, A. R., 1583W Nessa, A., 2359T Nestadt, G., 2391W, 2573F, 2576F Nesterova, M., 1151F Nestle, F., 583F Nestle, F. O., 2138F Nestrasil, I., 714T*, 785W, 801W Nethander, M., 2080T Neto, J. L., 2736F Netterville, J. L., 136 Netto, C. B. O., 696T Neuberger, J. M., 153 Neuhaus, J., 1965W Neuhausen, S. L., 1213T Neuhoff, N., 1976F Neumann, L. C., 3500T* Neuwirth, C., 1618T Nevado, J. B., 1610T* Nevalainen, E. M., 2213F* Nevanlinna, H., 209, 997T, 1006T, 1117T, 1171T, 1265F Neveling, K., 58, 100, 1734W, 1749W Neves, C. T., 1880F Nevruz, O., 1136F Newberg, J., 2979T Newburger, D., 397 Newby, L. K., 1444F Newcomb, P., 144, 1206W Newcomb, P. A., 141, 1067F, 1079F Newcomer, D., 3731F Newhouse, S., 2580W Newlin, A. C., 1225T Newman, A., 2165F Newman, A. B., 1920W, 1921T, 2040W Newman, D. L., 1966T Newman, W. G., 2852T Newport, D. J., 2384F Newschaffer, C., 463F Newsome, J., 1009T, 2014T Newton, A., 3682W Newton, K., 2098T Newton Bishop, J. A., 211 Newton-Cheh, C., 1585T, 1677T Ney, D. M., 710T Nezarati, M., 124 Ng, B. G., 1758W Ng, C., 136 Ng, C. L., 2066F Ng, D., 358, 1690T, 1696T* Ng, D. P. C., 1757W Ng, E., 563F Ng, E. H. Y., 3000T Ng, K., 135, 1227W Ng, M., 178, 2280W, 2332T Ng, M. C., 2131T Ng, M. C. Y., 1648T, 1879T, 2310W Ng, P., 735F, 1556W Ng, P. C., 1792W, 3353W Ng, S., 26 Ng, W.-F., 2084F Ngeow, J., 1144T* Ngom, A., 3490T Ngu, M. S., 3267T Nguyen, C., 757W Nguyen, D., 379, 3730W Nguyen, D. V., 770W Nguyen, H. H., 396 Nguyen, K.-D. H., 121* Nguyen, N. D., 2176T Nguyen, S. C., 2176T* Nguyen, T. M., 2539T Nguyen, T. V., 2176T Nguyen, V., 3007T Nguyen-Dumont, T., 1213T, 3679F Nguyen-Nielsen, M., 1565W* NHLBI Exome Sequencing Project, 6, 12, 19, 170, 1692T, 2336F, 2337W NHLBI Exome Sequencing Project, Exome Sequencing Project Blood Counts Project Team, 1408F NHLBI Exome Sequencing Project - Early Onset Myocardial Infarction, 120 NHLBI GO Exome Sequencing Project, 1437T NHLBI Personal Genomics Project Team and NHLBI Exome Sequencing Project, 301 Nho, K., 2511W Ni, P., 3300T Ni, T., 586W NIAID Center for HIV/AIDS Vaccine Immunology (CHAVI), 2335T Niangaly, A., 2255F Nica, A., 44, 583F Nica, A. C., 556W* NICE Study Group, 3020T Nicholas, T., 494W, 1239W Nichol Edamura, K., 2696T Nicholl, J. K., 978T Nicholls, K., 745F*, 772W Nicholls, S. G., 149, 150, 1827W* Nichols, A. H. G., 1084T* Nichols, W. C., 2136W Nicholson, G., 52, 2470T, 2742F Nicholson, G. A., 2816T Nickerson, D., 93, 223 Nickerson, D. A., 10, 12, 170, 171, 244, 301, 601T, 1408F, 1605T, 2443T, 2740W Nickerson, M., 1242W, 2833W* Nicolae, D. L., 368, 2196W, 2197T, 2333F Nicolaides, K., 3508T Nicolaou, N., 2848W Nicolas, G., 345* Nicolato, R., 2404T Nicoletti, A., 2763F Nicolini, H., 2495F Nicolson, S. C. N., 2443T Nicosia, S., 1061F Nicouleau, M., 390 NIDDK and International IBD Genetics Consortia, 2319W NIDDK IBD Genetics Consortium, 42 Nidey, N., 1937F Nie, J., 1086W Nieberle, I., 3539F Niehaus, D., 644T Nielsen, F., 1238F Nielsen, J. E., 2765T Nielsen, P., 3528W Nielsen, R., 182, 281, 1573F, 2311T, 2317T, 2347T, 3289F, 3300T, 3305W, 3311W, 3312T Nielsen, S. J., 1194W Nielsen, T. T., 2765T Nielson, C. M., 109 Niemelä, M., 1253F Niemi, A.-K., 744T* Nieminen, K. M., 1125W* Nieminen, T. T., 1276T* Nieminen-von Wendt, T., 2399F Nienhuis, J., 2430W Nieuwint, A., 98 Nievergelt, C. M., 2375F Nieves-Colon, M. A., 3363T* Niewold, T. B., 1979F, 2046W Nigrin, D. J., 1836F NIH Intramural Sequencing Center, 3306T Nii, T., 2647T Niikawa, N., 3056F Niinimaki, J., 1892F Niizeki, H., 2911W Nijman, I., 400 Nijman, I. J., 217, 2886F Nika, M., 2135F Nikamo, P., 2276F* Nikiforov, T., 3698W Nikkel, S. M., 131* Nikkilä, J., 1099T Nikkola, E., 2256W Nikodinovic, J., 201, 2948T Nikolaev, S. I., 3263W* Nikolaus, S., 2368T Nikolova, D., 3477T Nikopensius, T., 3079W* Nikpay, M., 2236T* Nillesen, W., 215 Nillesen, W. M., 125 Niloufar, B., 2037W Nimgaonkar, V. L., 2382W, 2589W, 2651F Nimmo, G., 722T Ning, X.-H., 3281W Nino, D., 2189F Nippert, I., 1877F* Niranjan, T., 2566T*, 2806W Nirmala Sadasivam, S., 2988T Nisbet, J., 44, 583F, 3441T NISC Comparative Sequencing Program, 1690T, 1983W, 2938W NISC Comparative Sequencing Program, NHGRI, NIH Intramural Sequencing Center, 1261T NISC Comparative Sequencing Program, NIH, 2470T Nishi, E., 3043W*, 3094F Nishida, A., 781W* Nishida, N., 2130W*, 2349W, 3301F Nishikawa, T., 1795W, 2891T Nishimori, I., 2768T Nishimoto, H. K., 2732T Nishimura, C., 419F Nishimura, D. Y., 404 Nishimura, F., 2370W, 2652W* Nishimura, T., 2771T Nishina, S., 3093W Nishino, I., 755W, 2409W, 2923W Nishino, S., 2667F Nishioka, K., 3134F Nishioka, M., 2435F* Nishioka, T., 2619W Nishita, D., 642T Nishiyama, K., 3136F Nishiyama, S., 475F Nishiyama, T., 1574W, 2440T* Nishizawa, D., 2507F* Nishizawa, H., 475F Nitschke, P., 104, 202, 324, 325, 329, 390, 403, 2808F Nitschke, Y., 2759T Nitzberg, M., 493F Niu, B., 457F, 1974W, 2623T Niu, D., 3467T Niu, G., 557F Niu, H., 242 Niu, Q., 1003T Niu, T., 2172W* Niu, Z., 314, 1735W, 1742W, 1761W*, 3493T SPEAKER AND AUTHOR INDEX *Presenting Author

390 388 SPEAKER AND AUTHOR INDEX Niyazov, D., 3036F* Nizou, A., 2694F Nizzari, M., 3680W Njølstad, I., 1608T No, D., 682T Noack, B., 2058W Nobel, A., 368 Noble, J., 3454T Nobuta, K., 1249T Noethen, M. M., 420W, 1512T Noguchi, K., 2559W Noguchi, S., 755W Nohutcu, R., 2058W Nolan, J. J., 1624T Nolan, J. M., 1897T Nolent, F., 54 Nolin, S., 2449T Nolta, J. A., 1625T Nolte, D., 2416T Nomura, M., 2264F*, 2647T Nomura, N., 2748F Nomura, Y., 3230F Nonaka, I., 755W Noonan, D., 1589T Noonan, J. P., Session 5 Noor, A., 2525F, 3106F Noori Daloii, M. R., 2952F Noponen, N., 1892F Noppola-Hemmi, J., 1976F Norberg, S., 3695F, 3710W Nord, A., 263 Nord, A. S., 4, 254, 407* Nord, K. H., 1024T Nordborg, M., 2320T Nordenskjöld, A., 3245W Nordenskjöld, E., 3245W Nordenskjöld, M., 1035W, 1126T, 1939T Nordgren, A., 1035W, 1126T, 3245W Nordlund, J., 3427T Nordmark, G., 2084F Nordstrom, L., 1186T Noreau, A., 2591F* Norman, P. J., 3390T, 3710W Normanno, N., 1060T* Norrgrann, P., 1563T Norris, J., 1330F Norris, J. M., 1888T Norsworthy, P., 1618T North, H., 2411F North, K., 1608T, 3299W North, K. E., 170, 1437T, 1467T, 1599T, 1913F, 1925F, 1954T, 2073W, 2090F, 2123F, 2131T*, 2145W, 2147F, 2337W North, K. N., 295 North American Brain Expression Consortium and UK Brain Expression Consortium, 564W Northrop, L., 957W Northrop, L. E., 937W* Norton, M. E., 2978T, 3020T Norton, N., 1681T Norwitz, E., 3030T Noskova, L., 752T Nothen, M. M., 2102F Nöthen, M. M., 106, 1005W, 1976F, 2088W, 2557T Nothnagel, M., 580W, 2058W, 2103W, 3364F*, 3402T Notini, A. J., 1273T Noto, C. S., 2533T Noto, K., 3321T, 3365W* Nouira, R., 2744T Nouvian, R., 2685F Novak, B., 3459T, 3669F, 3709F Novak, S., 2114F Novak, S. P., 2170T Novelli, A., 881W, 943W, 2777T, 3050F Novelli, G., 2160W Novembre, J., 180, 185, 476W, 1491T, 3282T, 3302W, 3406T, 3626W Noveski, P., 2983T Novikov, I., 1303F Novo-Filho, G., 896T, 899W Novokmet, N., 1660T Novosad, P., 2865F Nowaczyk, M., 124 Nowaczyk, M. J. M., 131, 300*, 701F Nowak, J., 1057T, 1184F* Nowak, S., 423F Nowell, K., 759W Nowicka, K., 1057T, 1184F Nozaki, Y., 3118F npod-virus Group, 3600W Nsubuga, R., 3412T Ntalla, I., 2097W, 3396T Ntzani, E. E., 109 Nucci, A., 2653T Nuccitelli, A., 71 Nuernberg, G., 105, 2909T Nuernberg, P., 105, 2909T Nukina, N., 2768T Numabe, H., 1816F* Numata, Y., 234 Nunes, D. H., 1946F Nunes, H. F., 2291F* Nunes, K., 3292F* Nunes, M. E., Session 79, 3158F* Nunes, V., 2703F Nuñez, A. F., 926T Nunez, C., 1330F, 3364F Núñez, C., 3402T Nuñez, G., 1320T Nuñez-Zenteno, A., 650T Nuotio, M.-L., 2132F* Nurmi, E. L., 639T* Nurminen, R., 995F*, 997T Nürnberg, G., 1, 2930T, 2944W, 3214F Nürnberg, P., 1, 2759T, 2812W, 2861T, 2869W, 2930T, 2944W, 3214F Nurse, J. C., 3725F Nusbaum, C., 322 Nusbaum, S., 915W Nuytemans, K., 347*, 2603F Nwebube, N., 3518T Nyambo, T., 283, 3303T, 3338W Nyberg, F., 609T, 1970F Nyegaard, M., 2699T* Nygaard, M., 2295W* Nygaard Ravn, M., 3641F, 3662W Nyholt, D. R., 106, 2056T, 2133W*, 2175W Nyström, M., 982T O Oakhill, K., 1257W Obayashi, M., 2371T Ober, C., 278, 536W, 2031W, 2982T, 3398T Oberfield, S. E., 812F Oberg, A. L., 1426F Oberman, B., 1303F Oberoi, S., 3242F Obisesan, T. O., 317 O Bleness, M., 433F, 465F* O Bra, S., 3238F Obraztsova, O., 2005T O Brien, D. P., 2805F, 2847F O Brien, J. E., 2463W* O Bryhim, B. E., 1989W* Obuchi, M., 2656T Occhi, G., 2708T* Ochoa, J., 970T Ochoa, S., 3063W* Ochs-Balcom, H., 1086W Ochs-Balcom, H. M., 2360F Ockeloen, C. W., 100, 3159W* O Connell, J., 1484W*, 2210F O Connell, J. R., Session 27, 602T O Connell, M. A., 577F O Connor, I., 2620T O Connor, M., 1740W Oda, T., 232 O Day, D., 2789T* O Day, D. R., 10 Oddoux, C., 3345T, 3395W, 3397W* Odeberg, J., 1651T Odefrey, F., 3679F Odefrey, F. A., 1213T Odent, S., 2893W, 3170F* Odenthal-Hesse, L., 3257W* Odom, D., Session 5 O Donnell, C., 584W, 586W, 1408F O Donnell, C. J., 170, 174, 349, 1445W, 1585T, 1599T*, 1677T O Donovan, M., 1325W O Donovan, M. C., 2576F O Dushlaine, C., 290, 333, 2487W* O Dushlaine, C., 2618F O Dushlaine, C. T., 2576F Oehl-Jaschkowitz, B., 3111W Oei, L., 109* Oepkes, D., 3020T Oertel, W., 2568W Oestergaard, E., 702T* Oeth, P., 2973T, 3016T*, 3023T Oetjens, M. T., 647T* O Fallon, B. D., 225* Offenhäuser, N., 1 Offit, K., 17, 27, 207, 208, 998F, 999W, 1159T, 1841W Ofverholm, I., 1126T* Ogaki, K., 2559W, 3221W* Ogata, H., 663F, 3499T Oghalai, J. S., 840F Ogundiran, T. O., 1003T Ogunniyi, A., 1959W Oguzkan Balci, S., 1402F*, 1935W, 1938W Oh, B., 1622T* Oh, E., 13 Oh, E. C., 2458T Oh, F., 1691T Oh, G., 628T Oh, H., 2665W* Oh, J., 1230W Oh, K., 3223W Oh, S., 690T, 3567F* O Hanlon, T. P., 434W O Hare, J., 893W Ohashi, J., 1327F, 1994F, 3301F Ohh, M., 1046F Ohler, U., 586W Ohlsson, C., 2080T, 2116T Ohmen, J., 2184W* Ohmen, J. D., 2104T Ohmura, K., 2004W Ohno, K., 2472W* Ohno, M., 548W*, 558W, 598W Ohta, T., 3056F Ohtake, A., 2873T O Huallachain, M., 425F* Oien, N. C., 3 Oikkonen, J., 2181W Oikonomopoulos, S., 509F Oiso, N., 3146F* Oitmaa, E., 1140W Ojeda, F., 1669T Ojha, B. K., 1177T Oji, V., 2869W Okabe, T., 800W* Okada, J., 724T Okada, K., 1815W, 2440T, 2550W Okada, T., 799W Okada, Y., 111, 1490W*, 2004W Okada-Hatakeyama, M., 2264F Okamoto, N., 1290T, 2697F, 2758W, 3102F* Okamoto, Y., 777W*, 2418W, 2607W, 2616W Okamura-Ikeda, K., 8 Okano, H., 2911W Okano, T., 2833W Okazaki, Y., 2652W, 2873T, 2923W Okochi, S., 1130F Okou, D. T., 2312F* *Presenting Author

391 SPEAKER AND AUTHOR INDEX 389 Oksenberg, J., 2113T, 3330T Oksenberg, J. R., 270, 1924T, 2299T Okuyama, T., 726T, 2911W Oláh, E., 3070F Olatubosun, A., 496W O Laughlin, M., 1210T Oldgren, J., 617T, 619T O Leary, J., 2974T Oleksyk, T., 3254W Oleksyk, T. K., 3315T, 3360T, 3380W Olender, T., 53, 2875W Oler, J. A., 2413T Olin, A. C., 1970F Oliphant, A., 2978T, 3020T Oliva, R., 2624F Oliveira, B. A., 2417F*, 2502W Oliveira, E. P. L., 514W Oliveira, F. A., 2233T Oliveira, F. M., 1045T* Oliveira, G., 1239W, 2261F, 2417F, 2502W Oliveira, J. P., 3122F Oliveira, K. G., 2654F Oliveira, L. F. S., 2434T Oliveira, M., 896T, 899W Oliveira, M. B., 2286W*, 2291F, 2718F Oliveira, R. J., 1880F Oliveira, S., 3261T* Oliveira, S. A., 1977W, 2085W, 2150F Oliveira, S. F., 961W, 3324T, 3375T Oliver, J., 3703F Oliver, J. S., 3529F, 3656W* Oliver, K. L., 2898F Oliver, P. L., 2649W* Oliver, T., 940T Olivier, M., 441F, 587F, 1269W, 1667T Oljira, T., 3322F Ollert, M., 2922F Ollila, H. M., 2462F* Olm-Shipman, A. J., 2265W, 2670F Olopade, O. I., 1003T Olsen, A. O., 3510T Olsen, N., 1901F, 2284T Olson, J. E., 3564W Olson, L., 247, 1447F, 2263T Olson, L. M., 2154W, 2240F Olson, T. M., 1695T Olsson, L., 1023W* Olsson, T., 1455T, 2561F Olstad, O. K., 576W Omar, S., 3303T, 3338W Omarjee, A., 126 Omay, Z., 1201T Omdal, R., 2084F Omi, N., 2129F Omran, H., 2850F, 2955F Önal-Akan, A., 2869W Onat, O. E., 2924T* Onay, H., 2719W, 3206F*, 3222F Öncel Torun, Z., 3195W* Oncescu, A., 3009T, 3067W Onda, H., 2675T O Neill, C., 763W, 784W O Neill, F. A., 2500T, 2594F, 2599T Onengut-Gumuscu, S., 1299T Oner, O., 8 Ong, F. S., 130* Ong, J., 3669F Ong, K., 2165F Ong, K. K., 2282F Ong, R. T. H., 3284W, 3339T Ongaco, C., 2139W Ongen, H., 401*, 556W, 561F Onkamo, P., 2181W Onland-Moret, N. C., 609T Onouchi, Y., 1631T*, 1643T Onoufriadis, A., 809F* Ontiveros, A., 2495F Ooi, C., 3574W Oonk, A. M. M., 58 Oostdijk, W., 2701W Oosterveld, M. J. S., 2848W Oosterwijk, J. C., 27 Oostra, B., 2107T Oostra, B. A., 2193W Oostrik, J., 58 Opdal, M. S., 643T Openshaw, P. J., 1507F Ophoff, R. A., 431F, 2526W, 2553W, 2661W, 3474T* Opocher, G., 2708T Oppelt, P., 3153W Oppeneer, T., 763W Oppenheimer, S., 3264T, 3267T Oppo, M., 113, 157, 177 OPTIMED Consortium, 608T O Rahilly, S., 33, 43, 45, 583F Orange, J. S., 2722W Ordonez, J., 2495F Ordovas, J. M., 2024F Ordulu, Z., 68, 70* O Reilly, D. D., 454W O Reilly, P., 1432F, 2162F O Reilly, P. F., 2164T O Reilly, R., 2585F Orellana, C., 103 Organ, C., 2561F Ori, A. P. S., 2661W O Rielly, D., 448W* Orioli, A., 415F Orlando, S., 255 Orloff, M., 1144T Ormond, K., Session 25 Ormond, K. E., 1844F Ormshaw, E., 3167W Ornitz, D. M., 828F Orntoft, T. F., 401 O Roak, B. J., 10*, 93, 278, 2789T, 2897T Oron-Karni, V., 2919F Orosco, L., 956T O Rourke, M., 853F Orr, H. T., 2625W, 2769F Orr, N., 1150T Orrù, V., 1516F Orr-Urtreger, A., 63, 704T Orta Correia, F., 1968W Orta Gomes, F., 2017T Ortega, G., 3226F Ortega, M., 2049W Ortega, O., 2453F Ortega, V., 868T Ortega Del Vecchyo, D., 3302W*, 3621F Ortega-Gutierrez, F. A., 650T Ortel, T. L., 2330F Ortiz, R., 1141T Ortiz, V., 526W Ortiz Brüchle, N., 3111W Ortiz-López, R., 1030T Ortiz-Orozco, R., 650T Ortiz-Tello, P., 2033F*, 3390T Ortmann, W., 2091W Ortoz, R., 1049F Orwoll, E., 109 Orwoll, E. S., 2375F Ory, D., 684T Osaka, H., 234, 2836W, 3136F Osann, K., 1791W Osann, K. E., 3213W Osawa, M., 1321F, 2963T Osborne, K., 399 Osborne, L. R., 2665W, 3482T Oshiro, M. M., 3712W Oshlack, A., 3484T Osimani, S., 124 Osimo, E., 2564F Osoegawa, K., 1589T* Osorio, A., 1213T Ospina, L. H., 2790F Ossowski, S., 2303F, 2326T, 2593T, 2940F, 3661F* Ossowsky, V., 2018F Ostell, J., 1762W, 3625F Oster, B., 401 Østergaard, E., 363 Ostergren, J. E., 1849W Ostrander, E. A., 28, 1001F, 1214F, 2219F* Ostrer, H., 17, 409, 1185W, 1309F, 2078F, 3345T, 3395W*, 3397W Ostrosky, P., 1049F Ostrovnaya, I., 999W Ostrovsky, J., 534W, 2943F Oswald, G., 80 Oswald, M., 1133F Ota, S., 475F Ota, V. K., 2533T*, 2534F Otieno, F., 2722W, 2856F Otieno, F. G., 2872W Otsuka, A., 2911W Ott, J., 1892F Otterud, B., 2397W Ottman, R., 203 Otto, E. A., 406, 2850F* Otto, P. A., 874T Ottoboni, L., 2250W Ottolini, B., 449F* Ou, J., 553F, 2479T Ouahla, M., 2674W Oualkacha, K., 1411F* Ouazzani, O., 2306F Ouchi, K., 1631T Oud, M., 324 Oud, M. M., 216 Oufadem, M., 3172F Ouguerram, K., 1607T Ouled Amar Bencheikh, B., 2306F*, 2342F Õunap, K., 3151W Ounissi-Benkalha1, H., 5 Ousager, L. B., 2760F Outeiro, T. F., 2641T Ouwehand, W., 110 Ouwehand, W. H., Session 22, 383, 1604T, 3453T Ouwenga, R., 3398T Ouzhuluobu, O., 3317W Ovarian Cancer Association Consortium, 1156T Ovcharenko, I., 407, 545F Overgaard, M. T., 2699T Ovetsky, M., 1762W Owen, M., 1325W Owen, M. J., 2405F, 2576F Owen, N., 730T Owen, R., 876T, 3522T Owens, C., 3142F Owings, A., 3373F Owings, A. C., 3329W, 3377W Oyama, F., 548W, 558W*, 559F, 598W, 599F Oyarzo, A., 2672T Oystreck, D. T., 2928F Oza, A., 1824F Ozaki, A., 2656T Ozaki, K., 1631T, 1643T* Ozaksit, G., 594W Ozbek, U., 22*, 2396F, 2412W* Ozcelik, H., 1500T Ozcelik, T., 287, 2924T Ozdemir, O., 2412W Ozdemir, T., 3222F* Ozdemir, T. R., 1106F Ozeki, T., 627T* Ozel, A. B., 2135F* Ozelius, L., 17 Ozelius, L. J., 2801T Ozen, M., 2908W Ozenberger, B. A., 1845W* Ozer, O., 3424T*, 3426T Ozhan, N., 1025F Ozilou, C., 915W Ozkan, E., 3201W Ozkilic, M., 3475T* Ozkinay, C., 1106F Ozkinay, F., 965W, 1106F, 2719W*, 3206F, 3222F Özkinay, F., 3214F Oz-Levi, D., 53*, 2875W Ozmore, J., 3176F P Pääbo, S., 3274F, 3372T Paananen, J., 46 Paardekooper Overman, J., 215 SPEAKER AND AUTHOR INDEX *Presenting Author

392 390 SPEAKER AND AUTHOR INDEX Paavola-Sakki, P., 2023T Pabón-Peña, C., 3669F Pabst, S., 2103W Pacanaro, A. N., 3045W Pacheco, J., 1312F Pacheco, J. A., 618T Pacheco Torres, A., 996W* Paciolla, M., 505F Pack, A., 2592W Padbury, J., 76, 3024T* Padgett, R. A., Session 24 Padilla, C. D., 1805W*, 1877F Padilla, S., 1805W Padioleau, I., 561F Padmanaban, A., 3705F Padmanabhan, S., 1626T Padoan, M., 1153T Padula, A., 2629T Padyukov, L., 1934F, 1981T, 2103W, 2160W, 2276F Paelinck, B., 1617T Paetau, A., 1253F Paez, P., 3115W* Paff, T., 809F Pagan, C., 259 Pagani, L., 3322F*, 3377W Page, D., 2297F Page, E., 1109F Page, G., 2114F Page, G. P., 1392T*, 2170T Pagliarani, S., 1751W Pagnamenta, A. T., 2939T Pagon, R. A., 1753W Pai, A., 2 Pai, A. A., 3251W Paila, U. D., 3632W* Painter, J. N., 2056T Painter, J. P., 2133W Paisan-Ruiz, C., 2866W Paithankar, S., 3433T Paiva, C., 2288F Pajukanta, P., 2256W Pak, H., 1590T Pakalapati, G., 434W Pakstis, A. J., 3313F Pal, A., 802W Pal, D. K., 1531F, 2580W Pal, T., 1061F* Pala, M., 547F*, 2001W Palacios, B., 526W Palacios, M. G., 3084F* Palamara, G., 2780T Palamara, P., 3346F, 3366T* Palamara, P. F., 17, 3345T Palejev, D., 334 Palha, T., 3364F, 3402T Palin, K., 3396T Pall, H., 348 Pallas, M. C., 3725F* Paller, A. S., 2915T Pallesi-Pocachard, E., 889W*, 2674W Pallone, N. L., 742T* Palma, M. G., 926T Palmas, W., 1661T Palmeiro, A., 1778W Palmer, C., 1082F, 2131T Palmer, C. D., 3525T Palmer, C. N. A., 115, 609T Palmer, D., 735F Palmer, L., 1153T Palmer, L. J., 2167T Palmer, N., 269 Palmer, N. D., 1661T, 1879T*, 1888T, 2275T, 2310W Palmer, R., 126, 1773W Palmer, S. E., 330 Palmer, S. J., 410*, 2662W, 2796F Palmfeldt, J., 657F Palomaki, G. E., 3016T Palomares, M., 1658T, 2065T Palotie, A., 252, 656T, 897W, 1325W, 1709T, 2059T, 2134T, 2344T, 2348F, 2350T, 2399F, 2898F Palou, J., 1053W Pals, G., 809F Palser, A. L., 2163W Paltiel, O., 1159T Paltoo, D., 2247W Pan, H., 1566T, 1772W Pan, J., 2838F Pan, S., 1601T Pan, W. H., 3430T Pan, X., 443F, 3394T Panchal, A., 1256F Panckeri, K., 853F Pandey, A., 3316F Pandey, M. K., 749F* Pandey, R., 1992W, 1997F, 2252F* Pandite, L. N., 651T Pandor, A., 762W* Panettieri Jr., R. A., 638T Pang, A., 3506T* Pang, C. P., 1972T Pang, H., 531F Pang, Z., 2433W Pangalos, C., 2902W* Pan-Hammarström, Q., 2091W Panhuis, T. M., 2012F Panicker, V., 1216T Panico, S., 1712T Panigrahi, A., 3316F Panigrahi, G., 2635T* Panigrahi, I., 3207W* Pankow, J. S., 1925F, 2337W Pannosian, S., 2872W Pannuti, A., 1116W Panossian, S., 1997F, 2252F, 2785W, 2892F, 2904F Panoutsopoulou, K., 2044T, 2097W, 2292W*, 3396T Pantel, K., 1115F Panzer, J. A., 330 Pao, W., 136, 3620W Papadogiannakis, N., 3245W Papageorgiou, E. A., 3017T Papanicolaou, G., 350, 2063F, 2210F Papanicolaou, G. J., 2131T, 2247W, 3299W Papasian, C. J., 2053T Papenhausen, P., 949W Papillon-Cavanagh, S., 2790F Papp, A. C., 609T Pappas, J. G., 3113W* Pappatà, S., 1985F Paprotka, T., 3701F Paquette, A. M., 3314W Paquette, J., 3618W* Paquis, V., 2703F Paraki, I., 218 Parboosingh, J., 1052F, 3173W Parboosingh, J. S., 2800W, 3095W, 3127W, 3141W, 3665F Parc, Y., 1170W Pardi, E., 2708T Pardo, L., 98 Pare, G., 617T* Paré, P. D., 1465F Paredes, R., 1141T Paredes-Aguilera, R., 1131W Parent, P., 1728W Parets, S. E., 2384F* Pareyson, D., 2781F Parfenov, M. G., 1677T Parfrey, P., 1066T, 1084T Parham, P., Session 80, 3390T, 3710W Pariente, J., 345 Parikh, A., 3097W Parikh, H., 1088F, 1199F* Parikh, S., 330 Parikshak, N., 2444F Parimi, N., 2375F Parisi, V., 881W, 943W*, 2777T Parisot, P., 77 Park, A., 1590T, 2042F Park, B. L., 1975T Park, C., 1931F Park, C. S., 1975T Park, D. J., 1213T, 3679F* Park, H., 1155W Park, H. C., 3223W* Park, I., 1248W, 3462T Park, J., 947W, 1190F, 1306F, 1450F*, 1657T, 2715F, 3444T Park, J. E., 1465F Park, J.-H., 1007F* Park, K. H., 1305T Park, K.-H., 385 Park, L., 2499W Park, M., 2518T Park, N., 2260T, 2547W Park, S., 126, 900T, 2518T, 3008T, 3103W, 3461T, 3473T Park, S. H., 3423T Park, S. J., 863W Park, S.-Y., 1622T Park, T., 1385W Park, W., 933W, 2723T*, 3204F, 3223W Park, Y. S., 344, 2508W* Parker, D., 386 Parker, H. G., 2219F Parker, M. M., 1425T*, 1512T, 3616W Parker, T., 3210F Parker, V. E. R., 33 Parkes, M., 2314T Parkhurst, E., 1866F Parkinson, H., 2108F Parkinson, K., 2703F Parkinson, N., 3142F Parkinson s Disease Genetics Study Group, 2638T Parks, J. C., 2968T Park-Simon, T. W., 1117T Parla, J., 2180F, 2305T, 2587T Parlamee, N., 17 Parmalee, N., 1898F, 2547W* Parman, Y., 201, 2948T Parmar, A. S., 2023T* Parnaik, R., 361 Parnell, L., 2024F* Parnham, A., 2916F Parodi, C., 1589T Parra, E., 49 Parra, M., 1736W* Parracciani, D., 2128T Parrado, A. R., 2520W* Parrini, E., 889W Parsons, J., 530W Parsons, M. J., 818F Parsons, M. T., 1067F Parsons, R., 1255T Partanen, J., 2023T Partlow, J. N., 8 Parts, L., 44, 583F, 1440T Partyka, G., 1867F Parvari, R., 1588T, 2738T* Parveen, F., 2992T* Pasalar, P., 1083W Pasaniuc, B., 89*, 284, 350, 1331W, 1577W Pasca, S., 2479T Pasche, B., 1292W Paschon, D. E., 803W Pasco, Y., 270, 2603F Pasco, Y. M., 2572T Pascoal, V. D. B., 2655W Pasko, D., 2116T Paskulin, G., 2434T Pasmanik-Chor, M., 105 Pasquale, L. R., 51, 1887W, 2135F, 2154W*, 2240F, 2263T Pasquale, R., 1060T Pasquali, A., 2548T Pasquali, M., 686T Pasquier, L., 3157W Passan, S., 1342F* Passini, M., 793W Passos-Bueno, M. R., 439F, 813F, 814F, 852F, 2414F, 2654F, 2673F, 2687T, 2746W, 3070F, 3152F Passtoors, W. M., 1436W Pasternack, D., 1279T *Presenting Author

393 SPEAKER AND AUTHOR INDEX 391 Pasternack, S., 1005W Pastinen, T., 256, 394, 569F, 649T, 705F, 1207T, 1215W, 3439T, 3466T, 3514T Pastore, N., 735F* Pastores, G. M., 768W, 769W, 772W, 773W Pastorino, R., 2039F Pastura, P., 2136W Pasutharnchat, N., 2749W Pasutto, F., 2160W Patel, A., 61, 229, 430W, 432W, 893W, 898T*, 952T, 2403W Patel, C., 2230T Patel, C. J., 1462F* Patel, D., 1108T Patel, H., 3400T Patel, K., 503F Patel, M., 750T Patel, P., 2778F* Patel, P. J., 1472W Patel, S. R., 646T Patel, V. C., 2312F Patel, Y., 3471T Paternoster, L., 1528F, 2102F Paterson, A., 2376W, 2499W Paterson, A. D., 2109W Pathak, J., 1351F Patil, S., 1841W Patin, E., 3368W Patino, A., 951W Patiño, A., 3074F Patney, H. L., 1649T Pato, C., 2564F Pato, M., 2564F Paton, W., 222 Patrinos, G. P., 3610W Patry, L., 2692W, 2790F Patsalis, P., 3017T* Patsopoulos, N. A., 624T Patterson, A., 2281T Patterson, B., 1847W Patterson, D. G., 2504F Patterson, M. C., 684T Patterson, N., 89, 178, 350, 1331W, 1360F, 2210F, 3372T, 3407W Patti, E., 2095T Pattnaik, B., 2830W Patto, J. V., 1977W Pauciulo, M. W., 2136W* Paul, D. S., 110, 383 Paul, S. M., 1965W Paul-Gilloteaux, P., 842F Pauls, D., 1480F Paulsson, K., 1023W, 1024T Paulus, W., 2568W Paunio, T., 252, 2462F Pauws, E., 2752W, 2859F Pavan, W. J., 258 Pavanello, R. C. M., 1727W Pavlidis, P., 447F, 491F, 517F, 2482T, 3568W* Pavlovic, A., 1601T Pawel, B., 924T Pawitan, Y., 2074T Pawlikowska, L., 589F Paxinos, E., 3682W, 3724W Paxinos, E. E., 36 Payet, M., 2729T Payette, Y., 2266T, 3341W Payne, F., 33, 45* Payne, T. J., 2388W, 2390F, 2574W Paynter, N. P., 51 Pazos, A., 3388F Pazourkova, E., 3437T Pearce, K. E., 1145F Pearce, M. S., 3419T Pearlman, A., 409, 1185W*, 3345T Pearson, C., 2635T, 3026T Pearson, C. E., 2696T, 2824W Pearson, K., 3238F Pearson, L., 2083T Pearson, L. N., 2223W Pearson, N., 1558F, 1561F Pearson, N. M., 2871F Pearson, R. D., 172, 1519F Peckins, S., 3264T Peco-Antic, A., 216 Peden, J., 1238F Pedersen, A. G., 2241W Pedersen, E. B., 2329T Pedersen, I. S., 2862F Pedersen, J. K., 1323T Pedersen, L., 1565W Pedersen, N. L., 434W, 2105F, 2175W Pedersen, O., 1624T, 2116T, 2311T, 2317T, 2347T Pediatric Imaging Neurocognition Genetics Study, 1973F Pedram, M., 2714T Pedrazzoli, J., Jr., 1187F Pedroso, J. L., 2642F Peebles, D., 3508T Pe er, I., Session 75, 17*, 193, 264, 353, 1231T, 1320T, 3345T, 3346F, 3366T Peete, J., 493F Peeters, E. A. J., 214 Peeters, H., 925W Peeters, K., 201, 2948T Pegoraro, E., 1732W, 2799F Pehlivan, D., 337, 360, 777W, 2881W*, 2908W, 2955F Pehlivan, S., 1402F, 1935W, 1938W Pehlivan, Y., 2881W Pei, Y. F., 2053T, 3534W Pei, Y.-F., 2172W Peissig, P., 618T, 1312F, 3622W Peitz, M., 236 Pelak, K., 53, 2335T Peleg, L., 2691F* Pellegata, N., 2708T Pellegrini, M., 2479T Pellegrino, C., 2674W Pellegrino, R., 2492F, 2592W* Peller, L., 674T Peller, L. C., 1696T Pellerin, P., 2002T Pellestor, F., 857W*, 936T Pellico, M. T., 775W Pellitteri-Hahn, M., 587F Peloso, G., 279 Peloso, G. M., 117, 170 Pelte, M. F., 67 Peltekova, V., 1093T* Peltoketo, H., 1099T Peltomäki, P., 1026W, 1276T Peltonen, J., 1139F Peltonen, S., 1139F Pelttari, L. M., 997T* Peluso, I., 2950W Peluso, P., 477F Pemberton, T., 2778F Pemberton, T. J., 3285T Pemov, A., 1261T* Peña, J. A., 3375T Pena, S. D. J., 3110F Peñaherrera, M. S., 3429T Penalva, L., 585F Penchaszadeh, V., 1877F Pendergrass, S. A., 226*, 625T, 1316W, 2258F, 3542W, 3624W Peng, B., 1543F*, 1554T Peng, C., 3596W Peng, G., 3589F Peng, J., 763W Peng, Q., 1263W* Peng, S., 3596W Peng, W., 586W, 3285T Peng, X., 3698W* Peng, X. H., 3081W Peng, Y., 3317W Peng, Z., 1369F Penland, C. M., 1731W Penn, J., 688T Pennacchio, L. A., 4, 254, 407 Pennell, C., 2097W, 2164T Penninger, J., 110 Pennings, R. J. E., 58 Pennington, J., 3530W Pennington, J. W., 3590W Pennison, M. J., 1292W* Penny, D. J., 1646T Pensato, V., 2775F Penzes, P., 263 Peoples, A., 480W Pepalyte, I., 653T, 920T Peppard, P. E., 2543F Pepperkok, R., 1630T Peralta, J., 1280W, 2589W Peralta, J. M., 1923W, 2308T, 2309F, 2339F Perche, O., 3246F Perdomo, S., 3115W Perea-Díaz, F. J., 2363F Perego, U. A., 3340F Pereira, A., 1593T Pereira, A. C., 636T, 1629T, 3160F, 3184F Pereira, C. S., 941W Pereira, E. T., 2642F Pereira, F. A., 840F Pereira, F. S., 2825T* Pereira, I. A., 1405F Pereira, L., 1343W*, 3325F Pereira, L. C., 2352W Pereira, L. V., 776W Pereira, P., 2404T* Pereira, P. D., 479F Pereira, R. W., 1202F, 1880F, 2223W, 3272W Pereira, S., 70 Pereira, S. L., 2932W Pereira Filho, S. A. C., 2751F Pereira-Latini, A. C., 2289W Pereira- Leal, J. B., 2261F Perera, M., 646T Perera, N., 1108T Perez, A., 2540F*, 3131W Perez, A.-B., 895W Perez, A. B. A., 2484W, 2485T Pérez, C., 2300F Perez, I. C., 2837T Perez, M. J., 77, 3129W Perez, R. J. M., 3039W Perez, S., 827F Perez-Jurado, L., 84 Perez-Jurado, L. A., 2711T*, 3084F, 3208F Perez-Nuño, M., 650T Perez-Quiñones, M. L., 3363T Perez Siles, G., 2742F Perez-Stable, E., 1075T Perez-Vera, P., 1141T, 3040F Pérez-Vera, P., 872T, 1022F, 1131W Pergadia, M. L., 2212T Pericak-Vance, M., 492W, 1571W, 3706W Pericak-Vance, M. A., Session 7, 9, 15, 270, 341, 342, 343, 344, 347, 588W, 1476T, 1489F, 1644T, 1834F, 2028W, 2049W, 2154W, 2185T, 2240F, 2263T, 2299T, 2318F, 2330F, 2445W, 2498F, 2508W, 2572T, 2583W, 2586W, 2614T, 2637W, 3335W Perin, J., 2904F Perin, J. C., 2943F Periyasamy, G., 2967T Perlberg, S., 2447F, 2991T Perls, T., 2040W Permaul, J., 1852F Perola, M., 656T, 1253F, 1436W, 1563T, 2059T, 2132F, 2175W, 2366F, 2462F Perrault, I., 324*, 390 Perrier, R., 910T, 1052F Perrin, M., 2126F Perry, B. J., 845F Perry, G. H., 3251W Perry, J. R. B., 111, 2073W, 2165F* SPEAKER AND AUTHOR INDEX *Presenting Author

394 392 SPEAKER AND AUTHOR INDEX Perry, R., 2648F Pers, T., 2090F Pers, T. H., 2241W* Persani, L., 2701W Perseu, L., 2001W Persico, I., 2062T* Person, R., 1742W Person, R. E., 314 Perszyk, A., 687F*, 740T, 743F, 3239W Pertesi, M., 1213T Perucha, E., 2082W Perusse, L., 2116T Pescarini, J., 1343W, 2352W* Pescatore, A., 505F Pesce, L. L., 1614T Peskett, E., 2752W, 2859F Peskind, E., 340 Peskind, E. R., 2646W Pessah, I. N., 2491T Petanovski, Z., 2983T Petek, E., 2570F Petek, L. M., 55, 2224T Peter, B., 2432F*, 3300T, 3311W Peter, B. J., 971W Peter, I., 17, 1320T, 1777W, 2151W, 2576F, 3488T Peter, J., 2205W Peterlin, B., 3001T Peterlongo, P., 27 Peters, A., 275, 2226W, 2568W Peters, J. A., 1064F Peters, M. J., 584W*, 1284T, 1503T, 2141F Peters, U., 1437T, 1608T, 1925F, 2337W Peterschmitt, M. J., 773W* Petersen, A., 2862F Petersen, B., 3583F Petersen, B.-S., 2315F* Petersen, D. C., 1085F, 3332W* Petersen, G., 603T, 1088F, 1161W, 1199F, 1267T Petersen, M. B., 2862F Petersen, O. B., 3148F Peterson, L., 2220W Peterson, R. E., 2277W* Petit, F., 3172F Petkovich, M., 2926W Petkovič Ramadža, D., 214 Petraroli, R., 1060T Petrek, M., 2103W Petri, A., 2827W Petri, M., 1979F Petridi, S., 809F Petrikin, J. E., 366 Petrill, S. A., 2544W Petronis, A., 377, 3490T Petropoulos, C., 3682W Petrosino, J., 3600W Petrosyan, P., 3587F Petru, E., 1115F Petrulis, M., 1879T Pettersen, B. J., 73 Petukhova, G., 417F, 592W Petukhova, L., 2182T* Petzl-Erler, M. L., 1405F Pevsner, J., 3374W Peyrard-Janvid, M., 1976F Pezanowski, D., 924T Pezzolesi, M. G., 2313W* Pfeifer, S., 285 Pfeiffer, R. M., 1314T Pfeiffer, W., 494W, 1239W Pfeufer, A., 86* Pfister, S., 1182W Pflückhahn, U., 1200W, 1233W Pfundt, R., 100, 102, 214, 955W, 979W*, 2848W PGen Study Group, 1825W Phadke, S. R., 2739F Pham, J., 952T Pham, L., 3699F Pham, P., 1742W, 1757W, 1761W, 3576W Pham, P. A., 314, 1735W Phan, L., 3582W, 3625F Phan, V., 78 Phanstiel, D. H., 416W Pharoah, P., 139, 1150T Pharoah, P. D. P., 206, 209, 210, 1156T Phelan, C. M., 1156T Phelan, K., 907W, 3052F* Phelan, M., 3699F* Phelps, I. G., 10, 2772F, 2789T Philip, G. K., 1224W Philippe, C., 2792T Phillips, D. L., 3344W Phillips III, J. A., 2732T Phillips, J., 730T Phillips, K., 949W Phillips, M., 788W, 3401W Phillips, S. L., 107 Phouanenavong, S., 407 Piard, J., 3199W* Piaza, A. C. S., 514W Piazuelo, M. B., 3388F Piazzon, F., 896T Piazzon, F. B., 899W*, 3045W Pibarot, P., 1655T Picanço, C. G., 941W Picard, A., 983F Piccolini, E., 1153T Piccolo, P., 735F Picher, M. M., 59 Pichler, M., 1115F Pichot, C. S., 3433T Pickering, D. L., 968T* Pickett, H., 210 Pickle, L., 3717F Pickrell, J. K., 3367F* Pic-Taylor, A., 903W* Pidsley, R., 3476T* Piehl, F., 2561F Piehler, A. P., 576W, 643T Pierard, G. E., 129 Pierce, B., Session 21, 1638T, 2025W* Pierce, E. A., 1756W, 2943F, 3653F Pierce, J., 3587F Pierce, R., 2221T Pierce, S. B., 2929W* Pieri, P. C., 2863W Pierquin, G., 925W Pietiläinen, K. H., 2256W Pietiläinen, O., 252*, 2399F Pietrement, C., 324 Pietrzykowski, A. Z., 507F* Pignatti, P. F., 1361W, 2548T, 2659T Piherova, L., 752T Pihko, H., 327 Pihur, V., 305 Pike, K., 13 Pilarski, R., 1197W* Pillai, N. E., 3339T Pillalamarri, V., 68, 70 Pillers, D., 2830W, 3287W* Pilling, L., 584W Pilorge, M., 901W Pilu, R., 157 Pilz, D., 124 Pimenta, G., 2404T Pimlott, N., 1852F Pina, R., 3019T Pina Neto, J. M., 3099W Pinder, C. L., 3382F Pineda, M., 684T Pineda, T., 703F, 3190F* Pineda, V. V., 2456F Pineda Alvarez, D., 332 Ping, W., 2879T Pingault, V., 2727F Pinner, J. R., 3167W Pinney, S. M., 1454W Pinnkas, P., 3671F Pino-Yanes, M., 2296T* Pinto, D., 2577W*, 2620T Pinto, E. M., 2706F Pinto, F. R., 2373W Piotrowski, A., 434W Piper, J., 436W Pipiras, E., 973W*, 2784F Pique-Regi, R., 2 Pirags, V., 608T Piras, M. G., 177, 547F, 1516F, 2198F, 2329T Piras, R., 157, 847F Pirastu, M., 2062T, 2128T Pirastu, N., 1484W, 2128T, 2366F Piravej, K., 2749W Pires, F., 1170W Piri, N., 2832F Pirim, D., 1672T* Pirinen, M., 1340W, 2157W Pirooznia, M., 2180F, 2305T Piryaei, F., 754W*, 754W, 2367W*, 2367W Pischler, C., 3116F Piscopo, I., 808F Piscopo, M., 3492T Pishotta, F., 2537F Piskol, R., 289*, 527F Pistis, G., 1451W* Pitchappan, R., 3377W Piteau, S. J., 671F* Pitman, T., 658T Pitstick, L., 2670F Pittaway, J., 780W Pitzalis, D., 113 Pitzalis, M., 157, 177, 186, 3664W Piveta, C. S. C., 479F* Pivnick, E., 3119W Pizzo, M., 2950W Place, E., 534W, 2943F Place, E. M., 1756W Plagnol, V., 122, 453F, 1621T, 2072F, 2812W, 3600W Plajzer-Frick, I., 407 Planchon, A., 401, 556W, 561F Plaseska-Karanfilska, D., 2983T* Plaster, C., 3322F Platt, A., 185* Platt, D., 1640T, 3349F Platt, F. M., 162 Platt, S. R., 2805F Platzer, M., 580W, 1236W Plazzer, J. P., 1130F Plebani, A., 760W Plecko, B., 756W Plenge, R. M., 625T, 1490W, 2047T, 2199W, 2210F, 2258F Pleshko, N., 826F Plessis, G., 3109W Pletnikova, O., 2648F Plitnik, T., 2586W Plomin, R., 2164T, 3487T Plon, S. E., 134, 314, 430W, 1221W*, 1735W, 1742W, 1761W, 1798F, 3549F Plona, T., 13 Plongthongkum, N., 3474T Plotsky, Y., 1165T Plourde, F., 1065W* Plowe, C., 2255F Plumari, M., 2781F Plumb, I., 1193F Plummer, F., 3276T Plummer, F. A., 490W Plunkett, K., 952T Plunkett III, G., 3671F Pluye, P., 1852F Pluzhnikov, A., 2333F, 3735F PMG Awareness Organization, Inc., 3239W Pochet, N., 322 Poddie, F., 157 Podolsky, R., 3418T Poduri, A., 266* Poeta, L., 2629T* Pogue, R., 1202F, 1880F Pogue-Geile, M. F., 2589W, 2651F Poh, W. T., 3339T Pohl, E., 1, 3214F Poidevin, M., 2477F Poirot, B., 1205F Pokholok, D., 3695F Polak, P., 402, 1550W* Poland, G. A., 1426F Polasek, O., 1383T Polenakovic, M., 3481T Poletta, F., 1936T Pollack, S., 350, 1331W, 1360F, 2210F, 3413W *Presenting Author

395 SPEAKER AND AUTHOR INDEX 393 Pollack-Berti, A., 3671F Pollak, M. N., 2080T Pollak, M. R., 284 Pollard, K. S., Session 5, 195 Pollett, A., 1093T Polley, S., 450W* Polli, R., 1755W, 2795T* Pollin, T., 249 Pollin, T. I., 1671T, 3027T Poll-The, B. T., 197, 2909T Polonikov, A. V., 2271W Polsinelli, G., 2408F Polverino, A., 1985F, 3492T* Polyak, E., 534W, 2943F Polychronakos, C., 5, 277, 1915T Polzin, K. O., 1286W Pomilla, C., 3412T Ponciano-Jackson, D., 1302T Pond, A., 3648W Pond, A. C., 1251W* Pond, S., 1684T Pons-Estel, B., 2046W Pontes, T. B., 1132T, 3503T Pont-Kingdon, G., 1752W*, 3182F Pook, M., 761W Pooley, K. A., 210 Poon, R., 1369F Popadin, K., 85*, 3263W Pope, B. J., 1213T, 3679F Pope, K., 131 Pope, R. M., 323 Poplin, R., 41, 288 Popov, J., 2260T Popovic, M., 3395W Poppe, B., 423F Popper, T., 1108T Porchet, N., 3172F Porcu, E., 157, 2198F* Porcu, L., 2001W Porkka-Heiskanen, T., 2462F Porreca, G., 1729W Porreca, G. J., 3640W, 3680W* Porreca, G. P., 3693F Portas, L., 2062T, 2128T Portela, L. V. C., 2424W Porter, F. D., 162 Porter, M., 969W*, 3530W Porter-Gill, P., 1091F, 1092W, 1094F* Portlock, C., 1159T Pospiech, H., 1099T Post, W., 1662T Post, W. S., 301 Posthuma, D., 98 Postiglione, A., 1985F Potash, J. B., 369, 2180F, 2305T, 2372F, 2391W Potkin, S., 3587F Potkin, S. G., 2469W, 2564F Potocki, L., Session 28 Potter, B. K., 142, 149, 150, 1827W Potter, C., 3419T* Pottier, C., 345 Pottinger, S., 2139W Potts, A., 247 Pouget, J., 328 Poulain, P., 3170F Poulin, M., 3425T* Poulizac, P., 716T Poulou, M., 2995T Pourahmad, R., 1596T Pourcain, B. S., 1528F Pourjafari, B., 860T Pour-Jafari, H., 860T* Povysil, G., 1483F, 1486F* Powell, A., 3694W Powell, B., 876T, 1221W, 3601F* Powell, C., 2090F, 2241W, 2328W Powell, H., 2302T Powell, J., 778W, 1199F, 3471T Powell, S., 2542T Powell, W., 3498T Powell, W. T., 64* Power, R. A., 2509T* Powers, N. R., 1973F, 2010W* Pöyhönen, M., 897W Pöyhönen, R., 327 Poznik, G. D., 3368W* Pozzi, E., 790W Prabhu, S., 353* PRACTICAL Consortium, 205, 1148F Prada, C., 789W* Pradhan, S., 3702W Pradhan, V., 1572T Prado, D. M., 3187W Prado, W., 1119W Prahalad, S., 2143T Prakash, G., 2293T* Prakash, S. K., 1743W* Prakruthi, P., 1108T Pramathan, T., 160 Pramstaller, P. P., 86, 2080T, 2366F Pranculis, A., 653T*, 920T Prandini, P., 2548T, 2659T Pras, E., 53, 783W, 2875W Prasad, A., 175, 2575T, 2620T Prasad, K., 2589W, 2651F Prasad, R., 481F, 802W* Prasanna, S., 1701T Prasun, P., 3147W* Pratt, H., 1969T Pratt, J. G., 1566T Pratto, F., 592W* Prawitt, D., 3496T Prchal, J. T., 3297T Predazzi, I., 1668T* Predazzi, I. M., 1634T Preethi, T., 878T Pregizer, S., 837F Preil, M. L., 2869W Prenni, J., 1189T, 1990T Prera, E., 2753T* Prescott, C. A., 2504F Prescott, K., 129 Prescott, T., 2926W Pressey, J. G., 1186T Presson, A. P., 1867F* Preto, P., 2393F Pretorius, M., 606T PreventCD Group, 1330F Previtali, S., 2948T Previtali, S. C., 201 Pribadi, M., 2639F Price, A., 284, 350, 1360F*, 2199W, 2210F, 3310F, 3413W Price, A. L., 89, 1331W, 1577W, 3407W Price, E., 3734W* Price, J., 2668W Price, S., 131 Price, T. S., 3487T Price, V., 167 Priebe, L., 420W Priest, J. R., 1065W Prieto, J. C., 3049W Prieto Rivera, J. C., 3077W Prieur-Gaston, E., 3538W Prill, R. J., 3569F* Priller, J., 684T Primorac, D., 3286F Prince, A., 1809W* Prince, J., 1189T, 1990T Prince, S., 762W Prins, B. P., 111, 2073W Prinz, M., 1591T Pristauz, G., 1115F Pritchard, J., 2, 273, 368 Pritchard, J. K., 3367F Priya, R. R., 2183F* Probst, F., 898T Procter, M., 689F* Prodam, F., 2827W Proffitt, J. M., 2309F Prokisch, H., 275, 584W, 699F, 782W, 2917W Prokopenko, I., 119, 190, 269, 1308T, 1528F, 2076W, 2106W, 2137T* Prokunina-Olsson, L., 510W, 1091F, 1092W, 1094F, 1097F, 1155W Prom-Wormley, E. C., 2277W Proost, D., 1617T Prosper, B., 842F Prost, S., 3333T PROTECT Group, 205 Provenzale, J., 785W Province, M. A., Session 8, 18, 1641T, 1650T, 1661T, 2093F Provost, S., 2402F Prucha, H., 86 Prust, M., 2452T Przeworski, M., 285 Przybylo, J., 1159T Psaty, B., 174, 349, 584W, 1599T Psaty, B. M., 170, 1284T, 1503T, 1585T, 2080T Psoni, S., 2937F Psychiatric Genomics Consortium, 2512T Psychiatric Genomics Consortium: ADHD Subgroup, 2515T Psychiatric GWAS Consortium, 2526W Psychiatric GWAS Consortium - Schizophrenia & Autism Working Group, 352 Psychogios, A., 1682T* Ptacek, L. J., 2423F, 2581T, 2667F, 2779W Pu, S., 1872F, 1873F Puck, J., 362 Puckelwartz, M. J., 1614T, 1683T* Puddu, A., 847F Puebla, A. M., 1077W, 1111T, 1127F*, 1128W Puechberty, J., 857W, 936T, 2386T, 2729T, 3121W, 3166F Puel, A., 365 Puel, J. L., 2685F Puente, X. S., 2578T Puffenberger, E. G., 1052F, 2800W Puga, A. C., 773W Pugash, D., 3006T Puggal, M., 2247W Pugh, E., 1447F, 2098T, 2556W Pugh, E. W., 46, 1452T*, 1512T Pugh, T. J., 1754W Pugliese, A., 3600W Puglisi, M. A., 2235W Puig, A., 2940F Puig, O., 1252T Puig, S., 1053W Puig-Butille, J. A., 1053W Pulford, D., 630T Pulijaal, V., 3012T Pulit, S., 1585T Pulit, S. L., 1692T* Pullinger, C. R., 1694T Pulver, A., 2387F, 2461T, 2486F Pulver, A. E., 2573F, 2576F Punaro, M., 2143T Pupacdi, B., 2918T, 3570W* Pupavac, M., 848F Puppala, S., 2339F Purcell, S., 280, 290, 1325W, 1447F, 2487W, 2618F Purcell, S. M., 22, 2577W Purchase, T. R., 454W Purdie, C., 1082F Purdon, S., 2474F Purdue, M., 1012T, 1413T Purdue, M. P., 1091F Purdy, M., 3730W Purevdorj, I., 3248F Purevdorj, M., 3248F Puri, M., 3463T Puri, R., 1720W*, 2754F, 3236F Purrazzella, J., 391 Purser, S., 2474F Pursley, A., 952T Pursley, A. N., 898T Puschmann, A., 2438F Pussila, M., 982T SPEAKER AND AUTHOR INDEX *Presenting Author

396 394 SPEAKER AND AUTHOR INDEX Putheti, P., 2260T Putonti, C., 591F Putoux, A., 3240F* Puts, D. A., 2223W Puttonen, S., 2462F Puura, K., 2383T Pyatt, R., 98 Pyatt, R. E., 103, 456W, 912T Pyle, A., 751F* Pylkäs, K., 1099T Pyridoxine Dependent Epilepsy Consortium, 756W Q Qaadri, K., 3571F* Qahar, Z., 2909T Qazi, A., 1093T Qi, L., 51, 1357F, 1954T, 2123F, 2147F, 2354F, 2360F* Qi, Q., 51, 1357F, 2354F* Qi, X., 3317W Qi, Y., 1772W Qi, Z., 963W Qiao, D., 1536T* Qiao, Y., 447F, 491F, 517F* Qiao, Y.-L., 1010F Qiao, Y. L., 1076F Qin, D. Q., 1723W Qin, H., 1404T*, 3572W* Qin, J., 3237W Qin, N., 1032W* Qin, P., 3334F*, 3394T Qin, S., 654T* Qin, W., 2407T Qin, X., 386 Qin, Z., 1558F, 3265F Qing, G., 3378T Qiu, C., 1252T Qiu, F., 1295W Qiu, H., 2121W, 2546F, 3573F* Qiu, K., 3553F Qiu, R., 74, 94 Qiu, W., 536W Qiu, X., 1108T Q-MEGA and AMFS Investigators, 212 Qoqandi, M. A., 1738W Qu, H., 5 Qu, H. Q., 1915T, 2048F, 2345F* Qu, K., 1198T Qu, L., 812F Qu, Y., 680T Quach, H., 1289W, 1301W*, 1455T, 1924T, 3304F*, 3454T Quaio, C. R. D. C., 2232W, 3152F, 3160F* Quarles, J. M., 2189F Quartararo, J., 2810T Quattrone, A., 2763F, 2766F, 2774T Quaye, L., 2138F* Quaynor, S., 2984T* Queiroz, L. S., 514W Quentric, M., 2002T* Quertermous, T., 1624T Quesenberry, C., 96 Quezado, M., 2786T Quh, H., 255 Qui, H., 2229W Quiezi, R., 3072F Quillen, E. E., 2223W, 2308T, 2589W, 2651F* Quindipan, C., 1721W* Quinlan, A., 12, 1971W Quinlan, A. R., 3632W Quinlan, J., 3260W Quinlan, P., 1082F Quinn, B., 161 Quinn, E., 2283W, 2581T Quinn, J., 1274F, 2538W Quinn, J. F., 2421W, 2510F* Quintana, M. A., 1435F* Quintana-Murci, L., Session 6, 3304F, 3368W, 3599F Quintero, F., 315 Quintero-Rivera, F., 82* Quinti, I., 760W Quon, G., 3468T R Raabe-Meyer, G., 3111W Rabai, E., 2767W Rabban, J., 1059W Rabe, K., 1161W Rabès, J.-P., 1607T Rabiller, D., 3705F Rabin, K., 134 Rabinowitz, M., 73, 3018T* Rabionet, R., 84, 2326T, 2940F* Raby, B., 536W Rachel, R. A., 824F Racher, H., 3665F* Rachiglio, A. M., 1060T Racimo, F., 3274F* Racine, B., 1543F Raczy, C., 3663F Radecki, J., 3681F* Radek, A., 585F, 3718W Rademacher, K., 3496T Rademakers, R., 2639F Radfar, L., 529F, 2188T Radhakrishna, U., 2351F, 2731W Radhakrishnan, A., 110 Radice, P., 27 Radom-Aizik, S., 3249W Radovich, M., 1098W Radwan, Z. H., 1673T* Raedler, A., 2368T Rafaels, N., 2043W Rafaels, N. M., 1900T* Rafati, S., 1949F Rafeeq, M., 2663T Raff, J., 3323W* Raffan, E., 45 Raffel, L. J., 1916F Rafi, S. K., 2265W* Rafiq, M. A., 2398T* Ragge, N. K., 3161W* Raggio, C., 826F, 3128F Raghav, S., 415F Raghavendra, R., 1295W Raghuraman, S., 3433T Ragon, C., 2729T, 2792T Ragoussis, I., 3161W Ragoussis, J., 509F Rahi, J. S., 335 Rahimian, G., 1143W, 1739W Rahimov, F., 2962W* Rahman, A., 1070F Rahman, N., 138, 213, 1211F Rahman, P., 154, 448W, 454W, 1952F Rahman, R., 3661F Rahmioglu, N., 2077T* Rahmouni, K., 2671W Rahrmann, E., 1229F Rai, E., 1901F*, 2284T Raia, M., 1908W Raible, D. W., 3296W Raichel Jacob, R., 1044W Raijas, P., 2181W Raik, E., 932T Raiman, J., 3196F Raime, K., 1140W Raimo, S., 505F Rainwater, D. L., 3434T Raitakari, O., 656T, 1623T, 2059T, 2097W, 2120F Raitakari, O. T., 2116T, 2173T, 2366F Raivio, T., 2707W Raj, P., 1901F, 2284T Raj, S., 764W, 1287T*, 1288F, 1294F, 1883F Raj, S. M., 357* Raj, T., 2250W*, 3310F Rajab, A., 1877F Rajadhyaksha, A., 1633T Rajagopalan, R., 1605T, 3369T* Rajagopalan, R. R., 2443T Rajaraman, P., 1372F Rajasimha, H., 1774W Rajasimha, H. K., 2183F Rajbhandary, R., 344, 1571W, 2498F, 2583W, 2586W, 2637W Rajcan-Separovic, E., 491F, 517F, 2977T Rajender, S., 1950W* Rajendram, R., 3456T Rajendran, S., 339 Rajive, K., 29 Rajkovic, A., 904T, 971W, 993W, 1744W, 2042F Rajput, A., 346 Rajput, A. H., 346 Rajput, M. L., 346 Rak, J., 1182W Rakovic, A., 204 Ralph, P., 282* Ralston, J. D., 1828F Ramachandran, D., 1349W, 2069F*, 2312F Ramachandran, S., 3361F, 3370F* Ramachandran, V., 1584T Ramagopalan, S., 2015F Ramakrishnan, R., 3652W Ramallo, V., 3362W Ramanan, V., 2531F Ramanan, V. K., 2511W* Ramanathan, S., 3068F, 3191W* Ramani, R., 3213W Ramasamy, A., 374, 564W* Ramaswami, G., 289, 543F*, 577F Ramazi, S., 1421W* Ramazi, S. H., 892T Ramensky, V., 1480F, 2343W Ramesar, R., 762W Ramezani, M., 754W Ramirez, A. R., 647T Ramirez, C. T., 2467T* Ramirez, F., 81*, 767W, 815F, 1698T Ramirez, J., 613T Ramirez, M., 2495F, 3669F Ramírez, R., 1127F Ramirez-Garcia, S. A., 3187W Ramirez-Solis, R., 105 Ramke, J., 1305T Rammamoorthy, S., 261 Rammensee, H. G., 1200W, 1233W Rammohan, K. W., 2049W Ramocki, M. B., 229, 299, 337 Ramos, A., 1111T, 1127F, 1128W* Ramos, E., 241* Ramos, E. M., 1566T, 1964F* Ramos, E. S., 941W Ramos, F., 3019T Ramos, L., 3019T Ramos, P., 1186T* Ramos, P. S., 3371W* Ramos, S., 928T* Ramos, Y. F., 584W Rampersaud, E., 1681T, 2185T Ramsay, E., 138, 1211F Ramsay, P., 1455T, 3454T Ramsay, P. P., 1289W, 1301W Ramsey, S., 456W, 912T Ramsey-Goldman, R., 1979F, 2099F Ramsing, M., 3148F Ramsook, S. S., 9 Ramu, A., 2982T Ramus, S., 139 Ramus, S. J., 1156T* Ramzan, K., 2734W*, 2743W Rana, S., 362 Ranade, S., 3659F Ranatunga, D., 96, 230, 2513F, 3342T Ranatunga, D. K., 118, 2140T Ranchalis, J., 1605T Ranciaro, A., 3303T, 3338W Randall, J., 108 Randolph, L., 728T* *Presenting Author

397 SPEAKER AND AUTHOR INDEX 395 Raney, B., 3557F Rangel, C., 526W Rangel-Escareño, C., 1129T*, 3255T Rangrej, J., 1093T Rank, D., 477F Rankin, K. J., 2639F Rantapää-Dahlqvist, S., 461F Rantus, J. A., 2572T Ranum, L. P. W., 2645F Rao, A. R., 471F* Rao, D., 2063F Rao, J. U., 1220F Rao, K. P., 1234T Rao, K. R. S. S., 2351F Rao, M., 1456F* Rao, M. V., 2731W Rao, N., 873W Rao, P., 134 Rao, P. N., 1029W Raouf, R., 1877F Raoul, O., 915W Rapoport, J., 433F, 2479T, 2558F, 2584T Raposo, A., 2814F Raposo, J., 3019T Rappaport, E., 534W, 2904F Rappold, G., 2595W Rappold, G. A., 1612T* Rashkin, S., 641T Rasi, C., 434W Raska, P., 3409W* Raskin, S., 870T*, 2475W, 2609F, 3055W Raskind, W., 2406W, 2432F Raskind, W. H., 2549F* Rasmussen, F., 2965W Rasmussen, M., 2965W, 3148F* Rasmussen, S. A., 1867F Rasmussen-Torvik, L. J., 2116T Rasolonjatovo, I., 3694W Rasool, M., 2920W Rassenti, L., 395 Rastetter, A., 2820F Ratain, M., 613T Ratan, A., 3545F Ratan, R., 2437T Ratbi, I., 708T Ratcliffe, P., 509F Rath, L., 1309F Rath, M., 532W* Rathkolb, B., 2922F Ratié, L., 2893W Ratjen, F., 142 Ratnamala, U., 2351F, 2731W Rattanasopha, S., 1944W Ratti, A., 2775F Rauch, A., 2356T, 2595W, 3240F Rauch, F., 3169W Rauen, K., 99, 300, 3139W Rauen, K. A., 1274F, 3242F Rauhala, H., 1000T Rau-Murthy, R., 998F, 999W, 1159T, 1841W Rauramaa, R., 1608T Rautanen, A., 1948T, 2157W* Rautenstrauss, B., 61, 758W* Rava, R., 3021T Raval, R. P., 1130F* Raveendrababu, M., 2731W Raveendran, M., 595F*, 2413T Ravi, H., 3669F Ravi, R., 3376F Ravichandran, A., 2328W Ravichandran, K., 861W Ravindran, P., 3574W* Ravnan, J. B., 884T, 3101W Ravnik-Glavač, M., 3422T Rawat, A., 3207W Ray, A., 1356T, 1393F* Ray, F. A., 948T* Ray, P. N., 2554T, 2905W Raychaudhuri, S., 1907F*, 2047T, 2199W, 2210F, 2250W Rayford, W., 1040F Raymond, D., 2801T Raymond, P., 843F Raymond, V., 1951T Rayner, N. W., 2044T, 3575F* Rayner, W., 3396T Raz, T., 3700W* Raz, V., 542W Raza, M. H., 1956W*, 1958F Razak, A., 1824F Razavi, F., 2770W Raznahan, A., 433F Razzaghian, H. R., 434W Real, F. X., 1091F Realini, T., 2154W, 2240F Reardon, W., 2925F Rebbeck, T., 283 Rebbeck, T. R., 1003T, 1307W Rebeiro, P., 2554T Rebelo, A., 2668W* Rebollo Mesa, I., 2082W Receveur, A., 3117W Rech, R., 2805F Recker, R. R., 3081W Reddel, R., 210 Reddy, K., 2696T, 3059W* Reddy, M., 3717F Reddy, S. U., 3455T Rede Neurogenética, 2642F Redett, R. J., 1472W Redl, D., 2800W Redler, S., 106 Redline, S., 2375F Reed, B., 3717F Reed, D., 2135F Reed, R., 784W Reed, X., 545F* Reeder, A., 1737W Rees, E., 1325W Rees, M. I., 262, 2821W* Reese, M., 3602W Reese, M. G., 195, 1770W Reeves, K., 2300F Reeves, R., 310 Reeves, R. H., 1349W, 2069F Regalado, E., 1789W* Regan, E. A., 2249F Regan, J., 3690W Regan, L., 3508T Regazzo, D., 2708T Regev, A., 322, 528W Register, T. C., 1661T REGISTRY Investigators of EHDN, 2641T Regla-Nava, J. A., 2363F Rego, E. M., 1045T Rehermann, B., 1155W Rehm, H. L., Session 77, 1677T, 1754W Rehnström, K., 252, 2344T*, 2399F Rei, N., 1977W Reich, D., 178, 284, 333, 350, 3347W, 3372T Reid, J., 349, 360, 1742W, 2798T, 2880F, 2934F, 3597F Reid, J. G., 314, 1592T, 1735W, 1757W, 1761W, 2883F, 3576W* Reid, K., 309 Reid, K. P., 3267T Reid, M., 1906T, 2158T Reider, M. J., 171 Reilly, E., 1860F Reilly, M., 1642T, 3551F Reilly, M. P., 115 Reilly, P., 617T, 619T Reinateo, S., 100 Reinders, M., 494W Reinders, M. J. T., 1436W Reindollar, R. H., 2732T Reiner, A. P., 170, 1408F, 1437T, 1913F, 2063F, 2131T, 2337W Reiner, G., 534W Reiner, J., 917W* Reinhard, C., 1369F Reinhard, C. R., 1235F Reinhart-Mercer, L., 3335W Reinholdt, L., 983F Reinier, F., 113, 157, 177, 186, 547F, 1451W Reinmaa, E., 1284T, 1503T Reinscheidt, A., 3550W Reis, A., 154, 2160W*, 2356T, 2557T, 2595W, 2666T, 3235W Reis, G. S., 1902W* Reis, L. A. M., 514W Reis, L. M., 2903T* Reis, S., 1647T, 2083T Reish, O., 858T* Reisi, S., 2013W Reiss, J., 1869F Reiter, L. T., 3119W Reitz, C., 343* Rejto, P., 1369F Relton, C. L., 3419T, 3455T Rembowska, J., 1057T Remmers, C., 263 Remmert, C. S., 313 Ren, B., 3509T Ren, H., 1779W Ren, W., 3025T Renard, M., 128, 2225F Renaud, D. L., 718T* Renbaum, P., 2991T, 3002T Renda, Y., 54 Rendeiro, P., 1778W Rendon, A., 110, 383 Renieri, A., 2604W Renkema, K. Y., 2848W* Renkens, I., 217, 2886F Renkonen-Sinisalo, L., 1026W Rennard, S., 2249F Renner, S., 3153W Rennert, H., 3210F Rennert, O. M., 3506T Rensen, J. H. M., 102 Renteria, M. E., 2054F* Renton, A. E., 2611T*, 2648F Renwick, A., 138, 1211F Repetto, G. M., 1658T*, 2065T Repici, M., 2641T Repnikova, E. A., 103 Repo, S., 499F Reppell, M., 3406T* Represa, A., 889W, 2674W Reprogen Consortium, 2165F Requa, M., 3649F* Reshmi, S., 456W, 912T Ressler, K. J., 1422T, 2420F, 2483F, 3480T Restagno, G., 2611T Restrepo, D., 835F Restrepo, N., 2041T* Retterer, K., 2579F Reuther, J., 1095W* REVEAL Study Group, 1781W Reveille, J., 1291F Revilla, F., 2538W Rewers, M., 1330F Rex-Haffner, M., 2483F Reyes, A., 1022F Reyes-Carmona, S., 3504T Reyes-León, A., 1131W*, 1141T Reyes-Romero, M. A., 1121F Reyhani, N., 982T Reymond, A., 299, 415F*, 506W, 2458T, 3256F, 3674W Reynolds, A., 463F Reynolds, J. M., 502W* Reynolds, R. J., 2047T* Rezaian, I., 3490T Reznik-Wolf, H., 53 Rhead, B., 3557F Rhee, H., 1248W Rheumatoid Arthritis Consortium for Immunochip, 2231F Rhoda, C., 853F Rhodenizer, D., 1758W Rhodes, B., 2005T Rhodes, K., 1237T Rhodes, M., 3717F Rhodes, S., 2026T*, 2538W SPEAKER AND AUTHOR INDEX *Presenting Author

398 396 SPEAKER AND AUTHOR INDEX Rhodus, N., 2084F Rhodus, N. L., 529F, 2188T Rial-Sebbag, E., 1811W, 1817W* Rianthavorn, P., 2006F Riazuddin, S., 1956W, 2663T, 2724F, 2959W, 3212F Riba, L., 2256W Ribas, A., 136 Ribeiro, E. M., 2270F, 2642F Ribeiro, M. L., 1187F*, 3502T Ribeiro, R. T., 167 Ribeiro-Bicudo, L., 3072F* Ribeiro-dos-Santos, A., 3364F, 3402T Ribeiro-dos-Santos, A. K., 1629T Riboldi, G., 2775F Riboli, E., 987W Riby, J., 2055W, 3623F Ricceri, F., 1712T Ricci, E., 1776W Ricci, G., 1776W Riccio, A., 3496T Riccio Oliveira, R., 2043W Rice, G., 2452T Rice, J., 2114F Rice, J. P., 2170T Rice, K., 174, 2080T Rice, L., 741F Rich, S., 453F, 1408F, 1971W Rich, S. S., 117, 170, 1299T, 1585T, 1662T, 2313W Rich, T., 1197W Richard, C., 714T, 801W Richard, G., 330, 332, 1676T, 1765W, 2579F* Richard, P., 2436W Richard, S., 1212W Richards, A., 544W Richards, A. L., 370 Richards, B., 1411F Richards, J., 391, 2135F Richards, J. B., 106, 109, 277*, 649T, 1311T, 1595T Richards, J. E., 2154W, 2240F, 2263T Richards, S., Session 3 Richardson, A. S., 1467T Richardson, K., 2024F Richer, C., 394, 1207T, 1215W Richieri-Costa, A., 2673F, 2746W, 2863W, 3072F Richmond, R. C., 1583W* Richmond, S., 1528F Richmond, T., 3688W Richter, A., 1733W Richter, M. A., 612T Richter, S. J., 107 Richter, U., 327 Richterová, R., 2865F* Richtsmeier, J. T., 2151W Ricks-Santi, L., 1926W Rico, A., 1060T Rideout, A., 2480F, 3143W Rider, D., 1267T Rider, E., 196, 2389T, 3198F Rider, L. G., 434W Ridge, P. G., 340 Ridge, P. G., Jr., 3643F* Ridker, P. M., 51, 109, 609T, 2056T Ried, J. S., 119, 190, 1308T, 2076W, 2137T, 2226W* Rieder, C. R. M., 2424W, 2626T Rieder, M. J., 530W*, 1605T Riegel, M., 879W* Rieger, G., 1957T Riegert-Johnson, D. L., 1058F Riemenschneider, M., 3577F* Riemer, C., 3545F Riemersma, M., 214 Riess, O., 1200W, 1233W, 2595W Riethdorf, S., 1115F Riethmaier, D., 332 Riethman, H., 861W Rieu, P. N., 83 Riffaud, L., 3170F Riffault, A., 1062W Rijlaarsdam, M. A., 1122W Riley, B. P., 2500T, 2504F, 2594F, 2599T Riley, G., 3582W, 3625F Riley-Gillis, B., 1252T* Rimm, E. B., 51 Rimmer, A., 2939T Rimoin, D. L., 130 Rinaldi, D., 2539T Rinckleb, A. E., 1080W Rincon-Sanchez, A. R., 3187W Rine, J., 75 Rinella, E., 2078F* Ring, S., 1528F, 1567F, 2081F Ring, S. M., 560W, 1318F, 1583W, 1973F, 2010W, 2169W Rinkel, G. J. E., 87 Rinne, T. K., 955W Rio, M., 104*, 843F, 915W Rio Deiros, D., 595F Rion, J. R., 2260T Rioux, J., 3330T, 3401W Rioux, J. D., 1381F, 1678T, 1982F, 2319W, 3382F Ripatti, S., 117, 119, 190, 252, 656T, 1284T, 1308T, 1503T, 1623T, 1709T, 2076W, 2110T, 2137T, 2173T, 2350T, 2399F Ripke, S., 352, 2487W, 2509T, 2512T*, 2526W Rippey, C., 263* Ririe, M., 3189W Risacher, S. L., 2511W, 2531F RISC Consortium, 3455T Risch, H., 1061F Risch, N., 7*, 96, 112, 118, 230, 279, 421F, 620T, 2140T, 3342T, 3383W Risch, R., 2513F Rischmueller, M., 2084F Riska, S. M., 986F Rissanen, A., 2256W Ristaldi, M. S., 2001W Ristoska-Bojkovska, N., 845F Ritchie, M., 1442W, 1602T, 2041T, 2098T Ritchie, M. D., 226, 618T, 625T, 1312F, 1316W, 1447F*, 2042F, 2258F, 2491T, 3542W, 3624W Ritchie, W., 1664T Ritter, D., 1221W Rittinger, O., 297 Ritz, B., 2026T, 2538W Rivadeneira, F., 87, 109, 584W, 1284T, 1334W, 1503T, 2053T, 2081F, 2105F, 2169W Rivard, L., 1678T Rivas, M., 176, 269, 1513F Rivas, M. A., 169, 173, 567F, 582W*, 1948T, 2319W, 2324F Rivera, I., 3315T Rivera, S., 770W Rivera-Luna, R., 1131W Riviello, J. J., 266 Rivier, F., 3121W, 3166F Rivière, J. B., 124 Rizzo, G., 71 Rizzu, P., 98 Roa, B., 1021T Roach, J. C., 195, 2643W Robb, L., 1678T Robbins, J., 2360F Robbins, J. A., 2145W Roberson, D., 3683F Roberts, A. E., 82 Roberts, A. L., 2005T* Roberts, D., 3459T, 3669F, 3709F Roberts, J., 3054F*, 3089W Roberts, J. M., 1884W Roberts, J. S., Session 9, 317, 1781W, 1825W Roberts, K., 3644W Roberts, M. E., 1058F Roberts, R., 115 Roberts, W., 175, 3086F, 3456T Robertson, J., 549F Robertson, K. R., 2517W Robertson, M., 967W Robertson, N., 3575F Robertson, N. G., 862T Robertson, S., 3006T, 3100F Robichaux, A., 3036F Robins, H., 530W Robinson, A., 3704W, 3716W, 3731F, 3733F* Robinson, D., 3161W Robinson, J., 322, 2020T Robinson, P. C., 152 Robinson, P. N., 298, 2725W Robinson, R., 385, 1305T Robinson, W., 3734W Robinson, W. P., 2977T, 2986T, 3429T, 3445T Robson, C. D., 2928F Robson, M., 998F, 1159T, 1275W, 1841W Robson, P. J., 1297F Robyr, D., 550W, 3431T Roca, A., 3254W Rocha, C. S., 514W, 2394W, 2655W, 2876T, 3578W* Rocha, J., 2223W, 3318T Rocha, K. M., 3152F Rocha, R. M., 1217F Roche, O., 324, 390 Rocke, D. M., 1625T Rockett, K., 2157W Rockwood, S., 983F* Roda, R. H., 2470T Roddy, T. P., 1605T Rodegher, M., 624T, 2095T Roden, D., 806F, 1602T, 3622W Roden, D. M., 247, 618T, 647T, 1312F, 1345F Roden, M., 275 Rodenburg, R., 672T Rodgers, L., 2587T Rødningen, O., 3096F Rodolico, C., 1776W Rodrgio, A., 3326W Rodrigues, A. L., 2814F Rodrigues, M., 1119W, 3562W Rodrigues, M. R., 3325F Rodrigues Jr., V., 1593T Rodrigues-Peres, R. M., 1033T* Rodriguez, A., 1048T, 1049F*, 1432F, 2336F, 2337W Rodriguez, D., 522W, 3708W Rodriguez, E., 1939T, 2226W Rodríguez, E., 1942T Rodriguez, M., 2495F, 2660F Rodriguez, M. H., 3020T Rodriguez, S., 1626T, 2427W Rodriguez, S. P., 926T Rodriguez de Alba Freiria, M., 1874F Rodriguez-Fernandez, I. A., 361 Rodriguez-Flores, J. L., 2933T, 3380W, 3399W* Rodriguez-Florez, J. L., 3315T Rodriguez-Revenga, L., 2624F, 2630F*, 3217W Rodríguez-Santiago, B., 3208F* Rodriquez, C., 3290W Roe, A., 3022T Roe, D., 1087T Roe, G., 3557F Roeder, K., 268, 1433W, 1520W, 2560T, 2577W Roelens, F., 423F *Presenting Author

399 SPEAKER AND AUTHOR INDEX 397 Roenspie, S., 2632T Roepman, R., 216 Roethlisberger, B., 3044F Roetzer, K., 2570F Roewer, L., 3364F, 3402T* Rogaeva, E., 2428T Rogan, P. K., 3672W* Rogatto, S. R., 1217F Roger, J., 827F Roger, J. E., 830F* Rogério, F., 514W Rogers, C., 3185W Rogers, J., 595F, 2413T Rogers, K., 3150F Rogers, R. C., 2772F, 3052F Roh, S., 2117F Rohde, K., 1361W Rohena, L., 3046F ROHgen, 2366F Rohlfs, R. V., 182*, 1573F Rohrer, M. D., 529F, 2188T Rojas, J., 2365T Rojas, J. D., 2990T Rojas, M., 1851F Rojas, X., 3115W Rojas-Martínez, A., 1030T Rojas Martínez, J., 3077W* Rojo-Contreras, J., 2363F Rokas, A., 3275W Rolfs, A., 704T Rolinski, B., 782W Rollins, B., 2459F Roma, C., 1060T Roma, G., 1237T Romalho, A. S., 1731W Roman, S., 1237T Roman, T. S., 1627T* Romana, S., 915W Romanelli, V., 3499T Romano, A., 1949F* Romano, C., 100 Romano, L., 401, 556W, 561F Romano-Palumbo, L., 415F Romanos, J., 155, 1330F* Romano-Silva, M., 2385W*, 2404T Romeo, M., 624T Romeo, S., 427F, 1271F* Romero, A., 3064F* Romero, F. E. P., 3039W Romero, J. A., 3708W* Romero, V., 2660F Romero-Gallo, J., 3388F Romigh, T., 1144T Romitti, P., 1564F Romitti, P. A., 2151W, 3070F Romm, J., 1448W, 2114F, 2139W*, 2170T, 3704W, 3716W, 3733F Romm, J. M., 46, 1452T Rommens, J., 2953W Rommens, J. M., 1322W, 1731W, 2905W Ronaghi, M., 596W, 1167W, 3695F, 3710W Ronald, A., 3487T Roncarolo, M.-G., Session 23 Ron El, R., 3002T Ronemus, M., 1600T, 2587T Ronen, R., 3307F* Roney, E., 63 Rønning, V., 921W Ronninger, M., 1981T, 2103W Ronowicz, A., 434W Rook, M. B., 217 Roomere, H., 1140W Rooryck, C., 473F Roos, F., 3685F*, 3709F, 3729F Root, H., 1050W* Rope, A. F., 3220F Ropers, H. H., 2732T Röpke, A., 2595W Rosa, F., 1153T, 1712T Rosa, R. L., 2220W Rosana, K. M., 2223W Rosand, J., 1689T Rosario, M., 979W, 1749W Rosati, G., 157 Roscioli, T., 214*, 298, 2151W, 3070F Rose, C., 2143T Rose, J., 2541W Rose, J. W., 2397W Rose, L., 2056T Rose, L. M., 51 Rose, R., 2566T Rose, R. J., 2022W Rosembloom, A. L., 2706F Rosen, A., 1330F Rosen, B., 1061F Rosenbaum, H., 748T*, 773W Rosenbaum, J., 2587T Rosenberg, C., 439F, 891W, 903W, 919W, 961W Rosenberg, D. R., 3447T Rosenberg, N., 3357T Rosenberg, N. A., 1534F, 3285T, 3351T Rosenberg, P., 1012T Rosenberg, P. S., 1378F Rosenberg, T., 363 Rosenberg-Belmaker, L., 334 Rosenblatt, D., 719F* Rosenblatt, D. S., 673F, 705F, 706T, 848F Rosenbloom, B., 768W, 769W Rosenbloom, K., 3612W Rosenfeld, J., 66, 68, 98, 870T, 2979T Rosenfeld, J. A., 41, 103, 274*, 805F, 884T, 902T, 1818F*, 2395T, 3055W, 3101W Rosenfeld, R. G., 2706F Rosenman, K. D., 1915T Rosenstein, B., 1309F Rosenstiel, P., 515F, 567F, 582W, 2103W, 2303F Rosenthal, E., 1021T Rosenthal, E. A., 1605T* Rosenthal, J., 1783W Rosenthal, S. L., 2521T* Roses, A., 2465F Roses, A. D., 637T, 1382W Rosinski, J., 242 Ross, A., 217 Ross, J., 2525F Ross, J. W., 2717T Ross, L. H., 773W Ross, M., 1291F, 3694W Ross, T., 494W, 1244F Ross-Adams, H., 1011W Rossello, F., 1273T Rosser, T., 2069F Rossi, A., 943W, 3190F Rossi, C., 2786T Rossi, M., 124, 2399F* Rossier, E., 3109W Rossman, M., 1915T Rostı, R. O., 3195W Roter, A. H., 972T Roth, F. P., 2660F Roth, J., 924T Roth, L. A., 158 Roth, M. P., 2126F, 3073W Rothhammer, F., 3327T Röthlisberger, B., 3109W Rothman, N., 1012T, 1091F, 1092W Rothschild, C., 1796W Rothschild, H., 1081T, 1454W Rothwell, P. M., 1313W Rotig, A., 72, 325, 329 Rötig, A., 699F, 782W Rotimi, C., 241, 1515T, 1886F, 1959W, 3533F Rottbauer, W., 86, 1612T Rotter, J., 350 Rotter, J. I., 130, 1445W, 1661T, 1662T, 1916F, 2080T, 2153F, 2210F, 2337W Rotunno, M., 30, 1218W, 1517W, 2191T* Rouault, A., 473F Rouault, T. A., Session 10 Roubertie, A., 2536T Roughley, P., 3169W Rouhani, F., 3507T Rouleau, C., 77 Rouleau, E., 1062W, 1212W* Rouleau, G., 1480F, 1670T, 1898F, 2306F, 2338T, 2816T, 3268F Rouleau, G. A., 2342F, 2402F, 2558F, 2591F, 2692W, 2790F, 3401W Roulstone, S., 2164T Roume, J., 56, 3129W Rousseau, F., 1840F Rousseau, M., 5 Roux, A. F., 2947W* Roux, AF., 1874F Roux, K. J., 2914W Rovelet-Lecrux, A., 345 Rovin, B., 458W Rowan, D., 786W Rowe, M., 2347T Rowell, S., 96 Rowland, R. R. R., 2717T Rowley, S. M., 1224W Rowsey, R., 250* Roy, A., 314 Royce, T., 942T, 3710W Roy-Gagnon, M.-H., 1478W Roze, V., 2770W Rozel, C., 3170F Rozell, B., 2427W Rozen, S., 2328W, 2889F Rozenzhak, S., 395 Rozet, J., 390* Rozet, J.-M., 324 Rozowsky, J., 551F Ruan, M. Z. C., 795W* Ruark, E., 138*, 1211F Ruau, D., 2230T Rubel, M. A., 3251W Rubens, C. E., 74, 94 Rubenstein, J. L. R., 407 Rubenstein, K., 2549F Rubenstein, L. M., 261 Rubenstein, R., 2579F Rubicz, R., 1406W* Rubin, E. M., 4, 407 Rubin, M. A., 1100F Rubini, M., 2002T Rubinstein, W., 3582W Rubinstein, W. S., 1762W*, 3625F Ruchirawat, M., 3570W Ruczinksi, I., 350 Ruczinski, I., 1076F, 1472W, 1512T, 1558F, 1900T, 2043W, 3609F* Rudaitis, V., 1208F Rudan, I., 1383T, 2366F Rudan, P., 1660T Rudd, D., 422W, 2493W* Rudd, M. K., 66, 338, 938T Ruden, M., 1009T, 2014T Rudenskaja, G., 2930T Ruderfer, D., 1325W Ruderfer, D. M., 2512T Rudge, S., 33 Rudnev, D., 3582W Rudnicki, D. D., 2644T Rudser, K., 714T Rudy, G., 3579F* Rueda, L., 3490T Rueedi, R., 1281T* Ruef, B. J., 2725W Ruff, D., 1209W, 1246T, 3278W, 3714W Ruffini, E., 1153T Ruggiero, L., 1776W Rugo, H., 1965W Ruhe, A. L., 2517W Ruigrok, Y. M., 87 Ruivenkamp, C., 2701W, 3650W Ruiz, N., 3121W Ruiz, R. G., 926T Ruíz-Flores, P., 1030T Ruiz-Linares, A., 1480F, 3327T, 3360T, 3380W Ruiz-Ortiz, L., 2272T Ruiz-Pallares, N., 3166F Ruiz-Rodriguez, C. T., 3254W Rukova, B., 3477T*, 3481T SPEAKER AND AUTHOR INDEX *Presenting Author

400 398 SPEAKER AND AUTHOR INDEX Rukova, B. B., 923W Rule, J., 3602W Rummel, S., 1002W, 1780W* Rump, A., 1236W, 2595W, 3224F* Rundek, T., 1635T, 1638T Runyon, S., 2322W Runz, H., 1630T* Ruparel, K., 2514W Rupchock, A., 1786W*, 1787W, 1853F Rupert, J. L., 1760W Rüschendorf, F., 2102F Russel, R., 1011W Russell, A., 1770W, 3602W* Russell, J. A., 1632T Russell, J. F., 2779W* Russell, M. B., 2804T Russell, M. L., 1186T Russin, J., 3415T Russo, A., 1153T, 1712T* Russo, A. D., 2424W, 2626T Rustin, P., 3241W Rusu, C., 124 Rusyn, I., 368 Ruth, B., 2904F, 3590W Rüther, U., 3524T Rutherford, N. J., 2639F Rutledge, D. N., 3408T Rutsch, F., 2759T* Rutschow, D., 645T Ruvolo, M., 975W* Ruzzo, E., 53 Ruzzo, E. K., 203*, 2455T, 2875W Ryan, A. W., 2160W, 2283W Ryan, C., 1856F Ryan, K., 602T Ryan, M., 2143T, 2742F Rybicki, B. A., 1250F, 1895F, 2202W Ryckman, K., 1882T, 3537F Ryckman, K. K., 1344T* Ryder, E., 105 Ryder, M., 1021T Rykiel, G., 240 Rynes, E., 402 Ryten, M., 374, 564W Rytkönen, K. M., 2462F Ryu, D., 3418T Ryu, E., 1351F* Ryu, H., 2437T, 3008T Ryu, M., 3461T Ryvkin, M., 1714T Rzadzinska, A. K., 1 Rzhetskaya, M., 3323W S Sá, J., 1778W, 2755W, 3019T Sá, M. J. N., 3122F* Saad, A., 944T, 1751W, 2744T Saada, N., 314, 1735W, 1742W, 1757W, 1761W Saadi, A., 2808F Saadi, I., 2265W, 2670F Sääf, A., 1939T Saag, M., 3079W Saal, H. M., 3194F Saarela, J., 2134T, 2350T, 2888T Saavalainen, P., 2023T, 2177F Saba, B., 1593T Sabatelli, M., 2611T Sabater-Lleal, M., 1651T Sabatti, C., 421F*, 431F, 3342T, 3383W Sabbaghian, N., 1065W, 1262F Saberi, A. H., 679F, 2714T Sabeti, P., Session 80 Sabo, A., 3, 648T, 3597F Sabolic, V., 2777T Saboohi, S., 3083W Sabourin, J.-C., 32 Sabova, L., 849F Sabrautzki, S., 2922F Sacaglia, F., 898T Sacco, R., 1638T Sacco, R. L., 1635T Saccone, N., 2114F, 2650T Saccone, N. L., 2170T Sacerdote, C., 1712T Sachs, N., 2848W Sacks, G., 2993T* Sacks, S., 1470T, 2260T Sacks, S. H., 2082W Sadan, S., 660T Sadasivam, M. N., 2988T Sadee, W., 609T Sadeghin, T., 239 Sadeghpour, A., 3 Sadetzki, S., 783W, 1303F Sadia, S., 2959W Sadighi Akha, E., 218, 2939T Sadim, M., 1292W Sadler, B., 2650T* Sadler, M., 96 Sadowski, H., 3649F Saeb, F., 2976T Saed, S., 2756T Saeed, S. R., 2302T Saenen, J., 1617T Saenz, M., 3133W Saez, M., 794W Safatle, H. P. N., 903W, 961W Safavi, S., 1024T* Saffery, R., 3484T Saffrey, P., 366, 3663F Safina, N. P., 366 Safra, N., 2778F Saggar, A., 1675T Saggar, A. K., 2896W Saghbini, M., 3649F Sagreiya, H., 646T Sahin, A., 2979T Sahin, F. I., 594W, 1013F, 3003T, 3243W*, 3424T, 3426T Sahlin, E., 3245W Sahoo, T., 876T Saiag, P., 1062W Sai Babu, M., 224 Sailani, M. R., 84*, 3431T Sailani, S. R., 67 Saillour, V., 31, 394, 1207T, 1215W, 3268F Saini, S., 1890W, 2733F, 2735T* Saip, A., 2098T Saip, S., 2450F Saisanit, C., 242 Saisanit, S., 3580W* Saith, S., 2465F Saito, K., 2963T Saito, M., 2588F Saito, T., 3051W Saito, T. L., 2569T Saitoh, S., 2822T*, 3056F Saitsu, H., 1290T, 2822T, 3136F* Saitta, S., 65*, 1721W, 3038F Sajan, S., 2389T Saji, T., 1631T Sajuthi, S., 3371W Sakabe, J., 2911W Sakaguchi, M., 558W, 559F, 598W, 599F Sakaguti, M., 548W Sakai, S., 2440T Sakamoto, L. H. T., 1202F Sakamoto, M., 1147T Sakiyama, Y., 2418W, 2601W Sako, W., 52 Sakoda, L., 230, 2513F Sakoda, L. C., 2140T* Sakowski, L., 2664F Sakurada, Y., 1980W Sakurai, Y., 663F Sala, A., 3364F, 3402T Sala, N., 987W Salako, B., 1959W Salam, M. T., 2168F Salama, M., 3637F Salama, M. E., 3297T Salamanca-Gomez, F. A., 1168T Salari, K., Session 28 Salarini, D. Z., 2642F Salas, C., 872T, 1141T, 3040F* Salas, E., 1111T, 1127F, 1128W Salas-Labadía, C., 1131W Salazar, A. M., 1049F Salazar, D., 712T Salazar-Dávalos, I. M., 3187W, 3188F Salazar-Páramo, M., 2363F Salazar-Riojas, R., 1030T Salbert, B. A., 1759W Sale, M., 178, 1971W Sale, M. M., 123, 1662T, 3371W Saleh, M., 649T Saleheen, D., 115 Saleh-Gohari, N., 2787F, 2832F Salehi, Z., 3083W Salehi-Ashtiani, K., 2660F Salehzade, F., 2856F Salek, R., 1281T Salem, R. M., 23*, 2307W Salem, S., 2971T Salerno, B., 2078F Saletore, Y., 376 Salgado, M., 1977W Salhi, A., 129, 1949F Salhi, H., 77 Salhi, N., 1268F Salhi, S., 325* Salido, E., 981W Salie, M., 2217W* Salifoglu, H., 590W* Saligan, L., 3485T Salih, M., 324, 2997T Salimzadeh, L., 1143W, 1739W* Salit, J., 2933T, 3399W Salit, M., 3647F Sallinen, S.-L., 992F Salloum, A., 3349F Salo, P., 1253F*, 2175W Salomaa, V., 656T, 1709T, 1835W, 2110T, 2116T, 2132F, 2173T, 2462F Salomão, H., 870T, 2289W*, 3055W Salomons, G. S., 681F Salonen, R., 897W Salonga, E. G., 2975T Salvarinova, R., 750T Salvatore, J. E., 2022W Salvetat, N., 2685F Salviati, L., 2909T Salvoro, C., 1732W Sam, M., 1256F Samango-Sprouse, C., 239* Samani, N. J., 115, 1659T, 2035T, 2175W, 3453T Samarov, D., 3647F Sambrook, J. G., 1604T Sambyal, V., 1703T Sammeth, M., 567F, 582W Samocha, K. E., 1523W* Samonigg, H., 1115F Sampaio, M., 1593T Sampath, P., 2312F Sample, M., 3622W Sampson, B., 1591T Sampson, J., 1160F, 1306F Sampson, K., 2411F Sampson, M. G., 845F, 3405W* Samuel, J., 978T Samuels, D. C., 72, 3275W Samuels, M. E., 2790F Samuels, M.-E., 2692W, 2945T Sanabria, D., 3225W Sanada, H., 245 Sanapareddy, N., 242 Sanchez, G., 2311T Sanchez, R. L., 3175W* Sanchez, S., 956T, 2055W Sánchez, S., 875W, 960T*, 976T Sánchez-García, F., 2296T Sanchez-Huerta, E., 3311W Sanchez-Lara, P. A., 300, 2151W Sánchez-López, J. Y., 2363F *Presenting Author

401 SPEAKER AND AUTHOR INDEX 399 Sánchez-Machín, I., 2296T Sánchez-Palacios, A., 2296T Sand, S. R., 1071W Sanders, A., 3373F Sanders, A. R., 1282F, 1957T*, 2576F Sanders, D. N., 2805F Sanders, J. L., 1920W*, 2040W Sanders, S., 13, 553F, 1433W, 2605T Sanders, S. J., 2478W Sanders, T. N., 1822F Sandford, A. J., 1465F Sandford, R. N., 153 Sandholm, N., 2307W Sandholt, C. H., 2317T, 2347T Sandhu, M., 117 Sandhu, M. S., 1507F Sandi, C., 761W* Sandi, M., 761W Sandin, S., 1707T Sandling, J. K., 44, 3441T Sandmann, H., 3528W Sandoval, K., 3380W Sandoval, L., 682T Sandoval Mendoza, K., 2033F Sandstrom, R., 255 Sandulache, V., 1120T Sanger, W. G., 968T Sanghera, D., 474W Sanghera, D. K., 1933T Sanghi, D., 764W, 1287T, 1288F, 1294F*, 1883F Sangkuhl, K., 633T, 635T Sanguansermsri, S., 3319F Sanidad, M. A., 945W Sankararaman, S., 3372T*, 3407W Sanlaville, D., 944T, 3117W San Luciano, M., 2801T San Martin, W. B., 926T Sanna, S., Session 27, 110, 113, 157, 177, 186, 547F, 1391W, 1451W, 1516F, 2001W, 2198F, 2329T, 3664W Sanna-Cherchi, S., 845F* San Nicolas, H., 2627F Sansbury, F. H., 2704W* Sanseau, P., 649T Santago, Y., 255 Santana, J., 2300F Santangelo, S., 352 Santani, A. B., 2904F* Santaniello, A., 2113T Sante, T., 423F Santen, G. W. E., 55 Santiago, K. M., 1217F Santibanez, J., 2934F Santibanez-Koref, M., 751F Santillan, D. A., 74, 94 Santillan, M. K., 74, 94 Santoni, F., 84, 85, 2877F, 2937F, 3431T Santoro, F., 1949F Santoro, L., 1776W Santoro, M., 2464T* Santoro, M. L., 2533T, 2534F Santoro, S., 1847W* Santos, D., 2736F* Santos, E. J. M., 3292F Santos, F., 3377W Santos, J., 492W Santos, J. C., 1187F, 3502T* Santos, L. C., 1132T* Santos, M. M., 2085W Santos, M. N. N., 2718F Santos, N., 3364F, 3402T Santos, P. A. C., 961W* Santos, P. C. J. L., 636T* Santos, R., 2417F, 2631W, 3362W Santos, R. O., 2394W* Santos, S., 2642F, 3364F, 3402T Santos, S. A., 941W Santos, S. C. L., 2596T* Santos, S. E., 1629T Santos da Cunha, B., 131 Santos Filho, A. F., 2534F Sapkota, Y., 1297F* Sapp, J. C., 33, 674T Saraceni, C., 2915T Saraga, M., 845F Saraidaridis, J., 3703F Saraiva, J., 2755W, 3019T* Saraiva-Pereira, M. L., 2424W, 2626T, 2642F Sarantaus, L., 982T Sarasin, A., 1496W Saraswathy, R., 929W* Sarca, G. J., 2954T Sarda, P., 857W, 936T, 2386T*, 2729T, 3047W, 3121W, 3166F SardiNIA Project, 3664W Sargan, D. R., 1105T Sariadaridis, J., 3656W Sarian, L. O. Z., 1033T Sarin, A., 1308T Sarin, A.-P., 119, 2076W, 2137T, 2173T Sarkar Roy, N., 3343F Sarmady, M., 2904F Sarmiento, M., 951W Sarnowski, C., 1361W*, 2079W Sarrel, K., 998F, 999W, 1159T Sarroza, D., 1759W Sarto, E., 2764W, 2781F Sarto, G. E., 2020T Sartor, M. A., 34 Sartor, O., 1040F Sarukhanov, A., 838F, 2857W Sasada, T., 2380T Sasago, K., 1631T Sasaki, H., 2697F Sasaki, M., 1697T Sasaki, R., 1730W, 2559W Sasaki, T., 2370W, 2496W, 2652W, 2911W Sasarman, F., 2771T Sasikala, K., 1044W Sasner, M., 983F Sass, J. O., 737F Sassi, C., 2611T Sasson, A., 2904F Satake, W., 2619W* Sathanoori, M., 904T Sato, D., 2575T, 2620T Sato, M., 1830F Sato, N., 2371T, 2507F Sato, R., 2129F Sato, Y., 1631T, 1722W*, 3337F* Satoh, F., 1321F Satta, S., 2001W Sattar, N., 1626T Satten, G. A., 1349W* Satterthwaite, T., 2514W Saugier-Veber, P., 3117W Saunders, A. M., 637T Saunders, C. J., 366*, 2793F, 2894T Saunders, E., 205, 1011W, 1109F Saunders, P., 1729W, 3680W Saunders, P. C., 3640W Saunders-Pullman, R., 2801T Saunier, S., 324, 403 Saute, J., 2609F Saute, J. A., 2626T* Saute, J. A. M., 2424W Sauthier, P., 2842W Savad, S., 1169F, 2987T Savage, D. B., 33, 45 Savage, M., 3018T Savage, S. A., 1064F, 1196F* Savage, S. K., 1799W, 1836F, 1843W* Saville, B., 247 Savio, A., 3478T* Savitzki, D., 199 Saw, S. M., 2094W Saw, W. Y., 3284W* Sawa, A., 2458T, 2461T Sawada, T., 1984T Sawai, H., 2130W Sawyer, S. L., 3141W* Saxena, A., 2353T Saxena, R., 1720W, 1988F Saydam, G., 1164W, 1178F Sayer, J. A., 2676F Saykin, A. J., 2511W, 2531F Sbardellati, A., 823F Sboner, A., 2444F Scafe, C., 3670W, 3717F Scaglia, F., 163, 759W, 2942T Scaletsky, I. C. A., 1187F Scalf, M., 1269W Scambler, P., 216 Scambler, P. J., 2955F Scanlan, N. L., 1138T Scaparo, R. M., 941W Scarano, G., 3129W Scaroni, C., 2708T Scarpini, E., 2095T Scarselli, G., 3114F Scelo, G., 1012T Schaaf, C., 759W Schaaf, C. P., 2403W Schaafsma, G. C. P., 3611F Schaarschmidt, H., 2102F Schachar, R. J., 2499W Schacherer, C., 1291F Schackert, G., 1236W Schadt, E., 583F, 1621T, 3724W Schadt, E. E., 1624T, 2220W Schaefer, A. S., 2058W* Schaefer, C., 96*, 112, 118, 230, 421F, 620T, 1289W, 1301W, 1414F, 1455T, 2140T, 2513F, 3342T, 3383W Schaefer, E., 2887W Schaefer, M., 36 Schaeffer, P., 2642F Schafer, C. M., 268* Schäfer, Z., 86 Schaffer, A. A., 1958F* Schaffer, L. G., 805F Schaibley, V. M., 476W* Schaid, D., 28, 1001F, 1214F Schaid, D. J., 986F, 1449T*, 1497T, 3564W Schalkwyk, L., 3471T, 3476T Schalkwyk, L. C., 3487T Schanen, N. C., 2783T, 3119W Schanze, I., 2666T Schara, U., 2681T Scharer, C., 3310F Scharer, G., 451F* Scharer, G. H., 2884W Scharer, O. D., 2696T Scharf, J., 1480F Scharfe, C., 3691F Scharpf, R. B., 3609F Scharschmidt, B., 662T Scharschmidt, B. F., 774W Schatz, M. C., 2587T Schaub, F. X., 1162T Schauer, S., 1236W Schaumberg, D., 385 Schaumberg, D. A., 1305T Schawb, M., 3362W Schecter, S. C., 816F* Scheel, M., 314, 1735W, 1742W, 1757W, 1761W Scheet, P., 1041W*, 1258T, 1542T Scheetz, T. E., 60 Scheffer, H., 97, 243, 621T, 1734W, 1749W Scheffer, I. E., 203, 2741T, 2897T, 3228F Schein, J., 375 Scheinfeldt, L., 3338W Scheinfeldt, L. B., 3303T* Scheinhardt, M. O., 1669T Schekman, R., Session 26 Schell, M., 86 Schellenberg, G., 343, 1476T, 1520W, 1571W, 2498F Schellenberg, G. D., 342, 344, 2316W, 2577W SPEAKER AND AUTHOR INDEX *Presenting Author

402 400 SPEAKER AND AUTHOR INDEX Schenck, A., 2595W, 2666T Schendel, D., 463F Schepers, D., 79, 80 Scherag, A., 108, 2090F Scherer, S., 98, 1688T, 2525F Scherer, S. E., 60, 244 Scherer, S. W., 175, 460W, 2570F, 2575T, 2617T, 2620T, 2932W, 3086F, 3095W, 3456T Scheuerle, A., 1761W Schiettecatte, F., 227 Schieve, L., 463F Schiffman, J., 2982T Schiffman, R., 2786T Schiffmann, R., 772W, 1684T* Schildkraut, J., 1061F Schildkraut, J. M., 1156T Schilhabel, M., 3224F Schillert, A., 200, 275, 1443T, 1669T Schimpf-Linzenbold, S., 3126F Schindeler, K., 3143W Schlagenhauf, U., 2058W Schlegel, P. N., 2982T Schlesinger, D., 919W, 1727W Schlessinger, D., 113, 177, 276, 547F, 847F, 1391W, 1516F, 2001W, 2198F Schleutker, J., 28, 992F, 995F, 997T, 1000T, 1001F, 1006T, 1214F, 1302T Schliekelman, P., 2206T* Schlitt, T., 1470T, 2804T Schloff, D., 885W Schmahmann, J. D., 326 Schmid, B., 2103W Schmidlen, T. J., 632T Schmidt, A., 200 Schmidt, B., 1965W Schmidt, C., 2135F Schmidt, E., 2427W Schmidt, E. M., 117 Schmidt, J., 493F*, 1582F, 2786T Schmidt, J. L., 2452T* Schmidt, M., 1544W*, 2614T Schmidt, M. A., 9 Schmidt, M. K., 206, 1117T, 1150T Schmidtke, J., 1763W*, 1868F, 1877F Schmidts, M., 216*, 809F Schmitt, B., 675F Schmitt, C. A., 2222F* Schmitt, C. P., 231 Schmitz, C., 3449T Schmitz, K., 2811F, 3219W Schmitz-Abe, K., 8 Schmitz-Abe, K. E., 452W* Schnabel, R. B., 1669T Schnabel, R. D., 2847F Schned, A., 1091F Schned, A. R., 1092W Schneider, A., 770W, 810F, 857W, 936T, 2386T, 3004T, 3121W, 3166F, 3179W* Schneider, B., 1098W Schneider, B. G., 3388F Schneider, E., 3266W Schneider, J. A., 3417T, 3450T Schneider, K. U., 1612T Schneider, S., 1119W Schneider, V., 464W Schneiderat, P., 2961F Schnetz-Boutaud, N., 15, 1286W, 1316W, 1377T, 1671T, 1713T Schnizel, A., 3240F Schnutgen, F., 825F Schoenberger, J., 1021T Schoenmaker, N., 2701W Schoenwolf, G. C., 828F Schofield, P., 198 Schonberg, S., 953W Schoolcraft, W. B., 851F, 2968T Schoonderwoerd, K., 708T Schorderet, D. F., 854F Schork, N. J., 24, 146, 1319W, 1839W, 2274W, 3332W Schormair, B., 2567F*, 2568W Schorn, M., 3717F Schorry, E., 3177W* Schoser, B., 2944W Schoumans, J., 1035W Schrader, B. J., 1714T Schrader, K., 999W, 1841W Schrader, K. A., 998F*, 1159T Schraders, M., 58, 214 Schrauwen, I., 59*, 2104T Schreiber, E., 3684W Schreiber, S., 200, 515F, 567F, 580W, 582W, 1942T, 1943F, 2058W, 2103W, 2295W, 2303F, 2314T, 2315F, 2368T Schreml, J., 236, 3214F* Schrock, E., 1236W*, 3224F Schrodi, S., 2297F, 3287W, 3326W Schroeder, C., 1200W, 1233W* Schroeder, D., 3479T* Schroeder, J., 3671F Schroer, R. J., 2826F Schroyer, R., 745F Schu, M., 385, 2563T Schubert, C. R., 2613W, 2928F Schuberth, C., 1630T Schuck, R. N., 606T Schuckit, M., 2582F Schuele, B., 803W* Schuemann, B., 622T Schuh, A., 133 Schuh, A. F. S., 2424W, 2626T Schüle, R., 2820F, 2930T Schülke, M., 699F Schuller-Faccini, L., 3031T Schully, S. D., 1845W Schulte, E. C., 2568W* Schulte-Körne, G., 1976F Schultz, E. S., 2167T Schultz, K., 1589T Schultz, K. A., 132 Schultz, R. A., 3101W Schultze, J., 2416T Schulz, B., 129 Schulze, A., 675F Schumacher, F., 205, 213 Schumacher, F. R., 1148F Schumacher, J., 1976F, 2088W, 2557T Schuman, J. S., 2154W, 2240F, 2263T Schunkert, H., 115, 3453T Schupf, N., 859W, 1920W Schurmann, C., 275, 1284T, 2141F* Schürmann, M., 2103W Schürmann, P., 1117T Schurr, E., 1374T, 2003F Schurr, T., 3373F* Schurr, T. G., 3329W, 3377W Schuurs-Hoeijmakers, J. H. M., 100, 160, 672T Schwab, R. B., 1051T Schwab, S. G., 2407T Schwaderer, A., 458W Schwartz, A. G., 1454W Schwartz, C., 2566T, 2806W, 3196F Schwartz, C. M., 3185W Schwartz, D. A., 3466T Schwartz, I. V. D., 696T Schwartz, J., 3469T Schwartz, P. J., 86 Schwartz, R., 839F, 3376F Schwartz, S., 103, 949W* Schwartz, S. G., 2028W, 2318F Schwartz, S. M., 213 Schwartz, T., 1239W Schwartzentruber, J., 160, 198, 701F, 2790F, 2794W Schwarz, E., 686T Schwarzacher, T., 449F Schwarze, U., 1759W Schwarzmayr, T., 2595W Schwei, T., 3671F Schweiger, M., 3224F Schwender, H., 1335T*, 1430W, 1472W, 3609F Schwenk, W. F., 718T Schwenn, M., 1091F, 1092W Scionti, I., 1776W* Sciortino, S., 96, 112, 118, 230*, 620T, 2140T, 2513F Sciurba, F. C., 129 Scliar, M., 3325F Scofield, R. H., 529F, 1979F, 2084F, 2188T Scolari, F., 845F Scollen, S., 503F, 2804T Scollon, S., 1798F* Scotet, V., 1728W Scott, A., 2325W Scott, A. F., 79, 1254W*, 1472W, 1512T, 3609F Scott, C. E., 33 Scott, C. R., 668T, 727F*, 3281W Scott, D., 389, 432W Scott, D. A., 834F*, 839F, 840F, 2678T Scott, H., 2685F Scott, J., 2974T Scott, J. A., 2157W Scott, J. K., 375 Scott, J. N., 2800W Scott, K., 2135F Scott, L. J., 34, 46, 1389T Scott, M., 1566T Scott, R., 1686T, 2755W Scott, R. H., 1773W Scott, R. J., 916T, 2133W Scott, R. T., 2968T Scott, R. T., Jr., 2999T Scott, S. A., 652T, 958T, 1777W, 3488T Scott, W., 489F, 492W Scott, W. K., Session 27, 347, 1489F, 2028W, 2318F*, 2378F, 2603F, 3335W Scrivner, S., 3133W Scurr, I. J., 217 Scutti, A., 2300F* Seal, R., 3651F Seal, S., 138, 1211F Sealy, I., 37 Searby, C. C., 323, 404, 2215T, 2671W Searle, S. M. J., 506W Sebat, J., 480W, 2576F, 2660F Sebert, S., 1432F, 2162F Sebire, G., 2790F Sebire, N. J., 303 Sebro, R., 279* Secolin, R., 514W, 2394W, 2876T Sedaghati Khayat, B., 1961F, 1962W, 2964F Sedaka, N. M., 2702T Sedel, F., 684T Sedova, M., 3717F Seebohm, G., 86 Seeley, A. H., 313* Seeman, P., 2745F Sefiani, A., 708T, 2937F, 3246F Segal, B., 2084F Segal, B. M., 529F, 2188T Segal, D. J., 1625T* Segal, H., 1313W Segal, M., 589F Segal, M. M., 3581F* Segel, R., 2447F* Segers, P., 2225F Segone, A. M., 1085F Segref, A., 105 Segura-Puimedón, M., 3084F Segurel, L., 285* Sehar, N., 2075F *Presenting Author

403 SPEAKER AND AUTHOR INDEX 401 Sehmi, J., 110 Sehnert, A., 3021T Sehrawat, B. S., 1297F Seibler, P., 204 Seidman, C., 1677T Seidman, J. G., 1677T Seifert, D., 3266W Seifert, M., 822F, 827F, 3536W Seik Soon, K., 2496W Seipp, M. T., 495F* Seixas, S., 3306T Sekar, R. B., 305 Seki, A., 1685T, 2911W Seki, Y., 724T Sekine, T., 3134F Sekowska, M., 44, 3441T Seldin, M. F., 2360F Self, M., 853F, 2300F Selhub, J., 123 Selinski, S., 1335T Selkirk, C. G., 1225T* Selleck, S. B., 2491T Selleri, L., 365 Sellers, M., 2411F Sellers, T., 1061F Sellers, T. A., 1156T Selmer, K., 3096F* Sels, J.-W., 1711T Selvi, N., 1025F* Semaka, A., 265* Semenza, G. L., 3297T Semina, E. V., 2903T Seminara, D., 28, 1214F Semple, R. K., 33, 45 Semsarian, C., 1664T Sen, S., 158, 260 Senac, J., 738T Sénac, J. S., 2683W* Senders, C., 2151W Senegaglia, A. C., 2475W Seneviratne, C., 2390F Sengstag, T., 2891T Sengupta, S., 117, 1429F* Senman, L., 3456T Sens, M. M., 1946F Senter, L., 1740W Seo, D., 1644T* Seo, E.-J., 964T Seo, J., 1248W, 1384F Seo, J. S., 467F, 1931F, 3259F, 3463T Seo, M., 933W Seo, S., 233, 323*, 1267T, 2215T, 2671W, 2690T Seok, J., 1112F Seok, S.-C., 2523W Seok, Y., 863W* Seoud, M., 2981T Seow, A., 1934F Separovic, E., 447F Sepe, R. M., 735F Seppala, E., 2213F Seppälä, I., 2120F Sepuri, N. B., 3630W Sequeira, A., 2459F Sequeiros, J., 1296T, 1964F, 2736F, 2818W Sergi, C., 3060F*, 3071W Serin, A., 1201T Serjeant, G., 1906T Serra, C., 1091F Serra, D., 2062T Serra-Juhe, C., 84 Serre, V., 127, 325, 329, 390, 1607T Sertie, A. L., 2654F Service, S., 2222F, 2343W Servidei, S., 54 Sesboué, R., 32 Sese, J., 2550W, 3513T Seshadri, S., 123, 1592T, 2528F Sessa, M., 71 Sesta, M., 2766F Sestan, N., 2444F Setchell, K. D. R., 161 Sethuraman, A., 3682W* Setia, S., 1447F Seto, A., 2381F Setoodeh, A., 2787F Settin, A., 1922F Severi, G., 205, 1148F, 1214F Severin, E., 2954T*, 3005T, 3009T, 3067W Sewry, C., 2812W Sexton, D. P., 314, 1735W, 1757W, 1761W, 3576W Seyahi, E., 3475T Seyedhassani, S., 2976T* Seynaeve, C., 1788W Seyrantepe, V., 2669T* Sezerman, O. U., 2450F Sgardioli, I., 1865F Sgardioli, I. C., 959W Sha, Q., 1409W* Sha, S. J., 2639F Shaaban, S., 2928F Shabalin, A. A., 564W Shabbeer, J., 1714T Shachar, S. B., 63 Shadravan, F., 3410T* Shafer, A., 3459T Shaffer, C. L., 3388F Shaffer, J., 22, 2034W Shaffer, J. R., 1464T, 1474F, 2142W*, 2156F, 2178W Shaffer, L. G., 66, 68, 103, 274, 884T, 902T, 934T, 2395T, 3101W Shafiee, N. M., 2150F Shah, A. S., 3231W Shah, B., 346, 2537F Shah, E., 1009T, 2014T, 2281T* Shah, K., 1591T, 1701T*, 1863F* Shah, K. H., 130 Shah, M., 3717F Shah, R., 1701T Shah, S., 998F, 999W*, 1159T, 1841W Shah, S. H., 1444F, 1594T, 1636T Shahak, E., 3202F Shahbazi, M., 3163W Shahbazi, M. S., 1096T* Shahid, H., 2072F Shahin, H., 2756T*, 2772F Shahmirzadi, L., 1844F* Shahram, F., 2150F Shaikh, R. S., 2959W Shaikh, T., 451F Shaikh, T. H., 819F, 2884W Shakir, K., 280 Sham, P., 21 Sham, P. C., 109, 1930T, 2066F, 2494T, 2932W, 3559F Shameer, K., 1312F* Shami, P., 3637F Shamloo, B., 3475T Shams, S., 440W Shamsi, M., 2967T* Shan, Y., 3300T Shanahan, K., 326 Shang, J., 3168F, 3237W Shang, Q., 2419T Shankar, S., 745F, 772W, 1679T Shanmugam, A., 2625W Shanmugham, A., 2579F Shannon, M., 1209W, 1246T, 3278W, 3714W Shannon, N., 324 Shannon, P., 2971T, 3013T, 3075W Shao, D., 3625F Shao, H., 159 Shao, X., 1414F, 1415W* Shao, Y., 1185W, 1309F, 2078F, 3582W Shapero, M., Session 76, 3730W* Shapira, I., 1133F* Shapiro, A., 1889F Shapiro, E., 714T, 715F, 801W Shapiro, E. G., 785W Sharaha, U., 2756T Shariati, G., 2714T* Shariati, G. R., 679F Sharifi, R., 3201W* Sharififard, B., 2714T Sharma, H., 481F* Sharma, K., 13 Sharma, K. L., 1188W* Sharma, M., 555F* Sharma, N., 2801T Sharma, N. K., 2011T Sharma, P., 918T* Sharma, R., 2353T* Sharma, R. K., 2353T Sharma, S., 221*, 811F*, 1439W, 2844F*, 3678W Sharma, V. P., 218 Sharp, A., 84, 3431T, 3516T* Sharp, A. J., 469F, 3488T Sharp, S. J., 1553W Shaw, C., 893W, 898T, 952T, 2542T Shaw, C. A., 229, 430W, 432W, 2189F Shaw, C. E., 348 Shaw, D. W. W., 2530T Shaw, G., 75, 1589T Shaw, G. M., 1352W, 1885T Shaw, N. J., 2864T Shaw, P., 135 Shaw, P. J., 348 Shchelochkov, O., 165, 389, 1882T, 2678T Shchelochkov, O. A., 840F, 1344T Shchetynsky, K., 1981T* Shea, P., 2050T Shea, P. R., 2335T* Shearer, E., 60*, 2867T Shears, D., 217, 2939T Shechter, N., 783W Sheehan, P., 3484T Sheehan, S., 184* Sheehan, V., 2331W Sheehan, V. A., 648T* Sheets, K., 3 Sheffer, I., 2542T Sheffield, J., 3395W Sheffield, V., 1588T, 2690T Sheffield, V. C., 323, 387, 404, 2215T, 2671W, 2738T, 2750T Sheikh, F., 1155W Shekar, M., 1183T, 1190F Shekari Khaniani, M., 779W Shekhtman, E., 3582W Sheldon, M., 2433W Shell, E., 493F Shelton, G. D., 2681T Shelton, J., 602T Shelton, S. E., 2413T Shen, C., 1249T Shen, C. L., 2985T Shen, E., 2444F Shen, H., 2053T, 2172W Shen, H. C., 210 Shen, J., 159, 294, 876T, 934T Shen, L., 230, 1289W, 1301W, 1414F, 1455T, 2140T, 2511W, 2513F*, 2531F Shen, M., 1945T Shen, P., 3691F* Shen, R., 3695F, 3697F Shen, Y., 554W, 1255T*, 1482T, 2606F, 2660F, 2732T, 3627F Shendure, J., Session 72, Session 74, Session 81, 26, 311, 1014W, 2337W, 2789T, 2897T, 3721F Shendure, J. A., Session 72, 10, 74, 94 Shepard, P., 395 Shephard, R. E., 1664T Shepherd, F. A., 1108T Shepherd, J., 1576F Shepherd, J. A., 812F Sheppard, B., 463F* Sher, K., 1566T Sherafat Kazemzadeh, R., 2702T Sheridan, E., 214 Sheridan, M. B., 935W* Sherman, M., 1117T Sherman, M. E., 1150T Sherman, S., 940T Sherman, S. L., 253, 1349W, 2069F, 3042F SPEAKER AND AUTHOR INDEX *Presenting Author

404 402 SPEAKER AND AUTHOR INDEX Sherr, E., 196, 3198F Sherr, E. H., 299, 2389T Sherridan, E., 3173W Sherrill, J. B., 829F Sherry, S., 3582W*, 3592W, 3625F Sherva, R., 2488T*, 2503T Sherwood, A., 530W Shete, S., 1298W, 1578T Sheth, F., 700T, 3400T Sheth, F. J., 911W*, 2803W Sheth, J., 700T, 911W, 3400T Sheth, J. J., 2731W, 2803W* Sheth, V., 1244F, 3717F Sheu, W., 1608T Sheu, W. H.-H., 1955F Shevah, O., 2706F Shevchenko, Y., 330 Shevell, M. I., 2790F Shi, A., 532W Shi, B., 1472W Shi, H., 3317W Shi, J., 616T, 1154F, 1199F, 3493T* Shi, L., 836F, 2151W, 3415T Shi, M., 551F, 1416T* Shi, Y., 159, 480W, 486W, 503F, 2617T, 3595F Shianna, K., 53 Shianna, K. V., 203, 2050T, 2335T Shibata, A., 729F, 1574W, 2472W, 2647T, 2747T, 3634W* Shibata, H., 2400W Shibata, K., 1549F* Shibata, T., 396 Shibuya, T., 396 Shieh, J. T. C., 501F, 1687T, 3247W Shield, J. P. H., 3494T Shiffman, S., 39 Shigemizu, D., 2051F* Shigeta, R., 493F Shih, A., 2617T Shih, S., 1905W Shikishima, C., 3513T Shilon-Hadass, A., 660T Shim, S., 900T* Shima, J., 1190F Shimada, A., 3192F* Shimada, T., 1697T Shimbo, H., 2836W Shimizu, A., 2882T*, 2911W Shimizu, J., 2409W Shimizu, T., 663F Shimmin, L. C., 1932W Shimojima, K., 1290T, 3102F Shimojo, N., 2294F Shimozato, K., 1574W, 2747T Shin, C. S., 2053T Shin, D., 1590T* Shin, E., 908T*, 1590T, 2834T Shin, H. D., 1975T Shin, J., 1248W, 2437T* Shin, J. Y., 3463T Shin, S.-Y., 44, 583F Shin, Y.-B., 1622T Shink, E., 1951T Shinka, T., 3337F Shinomiya, N., 663F Shinomura, Y., 2174F Shinya, K., 2507F Shiohama, A., 2911W Shiohara, T., 627T Shirai, T., 1815W Shiraishi, H., 2822T Shirakata, Y., 627T Shirakawa, O., 2380T Shirakihara, T., 396 Shirazi, M., 957W, 3730W Shiri, R., 2120F Shirley, B., 3672W Shirley, M., 3374W Shirmardi, A., 2013W Shiroiwa, K., 2380T Shirota, R., 1277F Shirzad, H., 1143W, 1739W Shiu, C., 1557T Shiue, C., 413F* Shivatzki, S., 2914W Shmueli, D., 2447F Shmygelska, A., 483F*, 3617F Shneebaum, N., 2447F Shoda, H., 1984T Shoedel, J., 509F Shoemark, A., 809F Shohat, M., 105, 3185W Shohet, J., 134 Shomron, N., 2919F Shortreed, M., 1269W Shotelersuk, V., 709F, 1944W*, 2006F, 2749W Shou, W., 616T*, 3493T Shoubridge, C., 2629T, 2640W* Shoubridge, E. A., 2771T Shoukry, M., 407 Shoval, Y., 199 Shprintzen, R., 1494T Shrader, J., 711F Shrestha, D., 864T Shridhar, V., 1238F, 3451T Shriner, D., 241, 1515T, 3412T, 3533F Shringarpure, S., 3605F Shringarpure, S. S., 3391W* Shriver, C. D., 1002W, 1780W Shriver, M., 1850W, 2083T Shriver, M. D., 2223W*, 3290W, 3318T, 3360T, 3380W Shtir, C., 453F* Shu, Y., 1362T* Shugart, Y., 1527T Shugart, Y. Y., 1559W, 3572W Shukla, A., 1232F Shukla, K. P., 2186F Shukla, N. K., 1278W Shukla, R., 918T Shukla, R. K., 3271F* Shuldiner, A., 249 Shuldiner, A. R., 602T Shulman, J., 2488T Shuman, C., 320, 1872F, 1873F Shungin, D., 1954T, 2123F, 2147F Shvetsova, T., 1245W, 3687F Shy, M., 1871F Shyong Tai, E., 2041T Siasi, E., 2980T* Sibigtroth, C., 784W Siciliano, G., 1776W Sicotte, H., 1247F Sidders, B., 503F Siddiqui, K., 3149W Siderowf, A., 2538W Sidore, C., 113, 157, 177*, 186, 276, 1451W, 1516F, 1568W, 2001W, 2198F, 2329T, 3664W Sidow, A., 397* Sidransky, E., Session 10 Sie, D., 494W Siebel, S., 1702T* Sieber, O., 1072T Sieberg, R., 1666T Siegbahn, A., 617T, 619T Siegel, P., 1182W Siegesmund, K., 200 Siegfried, J. D., 1767W Siegler, I. C., 1594T, 2481W Siegmund, D., 3675F* Sierra, F. P., 926T Siervogel, R. M., 2146T Siffredi, V., 62 Siffroi, J.-P., 2674W SIGMA Type 2 Diabetes Consortium, 48 Sigmon, D. F., 1229F Signorello, L. B., 2202W Sigurjonsson, S., 73 Sik, A., 2767W Sikdar, N., 1097F* Sikela, J., 465F Sikela, J. M., Session 22, 433F, 835F Sikela, M., 433F Sikka, N., 1644T Sikkema-Raddatz, B., 1619T Siklosi, K. R., 1731W* Sikora, M., 186* Sikron, F., 783W Silander, K., 2462F Silani, V., 2775F Silao, C. L. T., 707F* Silas, J. C., 2988T* Silberbach, M., 1743W Silberg, J. L., 2277W Siles, J., 728T Sill, H., 1115F Sillanpää, M. J., 1597T Sillé, F. C. M., 1104W*, 2055W Sillence, D. O., 3167W Siltanen, S., 1000T* Silva, A. C. S., 1902W Silva, A. G., 891W Silva, C., 2193W Silva, E., 324, 390 Silva, F., 2624F Silva, I. D. C. G., 1008W Silva, J., 913W, 2668W Silva, L., 1851F Silva, L. C. S., 2642F Silva, M. J., 2718F Silva, R. M., 1315F, 1936T Silva, W. A., Jr., 1037F, 1038W, 2813T Silva, W. L., 2289W Silva-Zollezzi, I., 3255T Silveira, S., 1651T Silveira Lucas, L., 131 Silver, D. L., 2455T Silverberg, M. S., 42, 1381F, 2319W Silverman, D. T., 1091F, 1092W Silverman, E. K., 1425T, 2057F, 2249F, 2346W Silverman, I., 1642T, 3551F Silverman, W., 859W Silverstein, C., 1685T Silvestri, G., 385, 1305T, 1779W, 1897T Sim, X., 169, 173*, 269, 1510F Simanivanh, T., 953W Simarci, A., 3125W Simard, J., 207, 208, 1150T, 2635T Simeonov, D., 2610W Simino, J., 1637T* Simioni, M., 959W, 1903T* Simkin, L., 2003F Simmons, L. E., 74, 94 Simms, R. J., 2676F Simões, A. L., 3277F, 3280F Simões, B. P., 1045T Simões, R. T., 994T Simola, K. O. J., 897W Simon, A. J., 2691F Simon, D., 841F Simon, K., 2561F Simon, M., 127, 3213W Simon, M. S., 1003T Simon, T., 609T Simon, V., 3310F Simonelli, F., 2950W Simonic, I., 98, 3109W, 3172F Simonson, M. A., 2239T* Simonson, T. S., 3297T, 3378T Simons VIP Consortium, and 16p11.2 European Consortium, 299 Simosky, J. K., 772W Simpfendorfer, K. R., 306 Simpson, A., 2211W Simpson, C. L., 1302T, 1454W* Simpson, D., 1779W Simpson, M. A., 780W, 2804T, 2896W, 2925F* Simpson, P., 1475W Sims, D. J., 1068W Sims, K., 1684T Sims, K. B., 326 Simsir, A., 1106F Sincan, M., 359, 3543F Sinclair, E., 3454T *Presenting Author

405 SPEAKER AND AUTHOR INDEX 403 Sinclair, S., 750T Sindeaux, R. H. M., 2475W* Sindhi, M., 2075F Sing, C., 183 Sing, C. F., 187 Singer, A., 3048F, 3162F*, 3174F Singer, C., 347, 2603F Singh, A. P., 3627F* Singh, D., 666T, 2737W* Singh, G., 3618W Singh, J., 1920W, 1921T* Singh, J. R., 2735T Singh, K., 1950W, 2154W, 2240F, 2263T, 2700F Singh, K. E., 1071W Singh, L., 2988T Singh, L. N., 1696T Singh, N., 2967T Singh, R., 2988T, 3316F Singh, S., 2585F Singh, S. K., 481F Singh, S. M., 378 Singh, V., 1134W* Singhi, P., 167 Singleton, A. B., 564W, 2148W, 2648F Sinha, G., 2663T Siniard, A. L., 3215W Sinicina, I., 86 Sinicropi, D., 1198T Sinke, R. J., 1619T, 2886F Sin Lo, K. S., 2319W Sinnett, D., 31, 394, 1207T, 1215W, 3268F Sinning, C. R., 1669T Sinnott, R., 2703F Sinnwell, J., 1247F Sinnwell, J. P., 1449T, 1497T Sinopoli, V., 2499W Sipeky, Cs., 3283F Sirén, I., 2110T Sirewanda, K., 3196F Siriwan, P., 1944W Siriwardena, K., 720T* Sirmaci, A., 57 Sironi, M., 438W Sirotkin, K., 3582W, 3625F Siscovick, D., 350, 1346W, 2210F, 2337W Sisk, R. A., 3212F Siskind, C., 1871F Sismani, C., 3017T Sistermans, E., 98, 494W, 3200F Sisto, D., 2541W Sistonen, P., 2023T SISu Consortium, 2344T Sitaram, U., 931W Sitaraman, S., 732T, 745F Sites, E., 3177W Sitlani, C., 1346W, 1585T Siu, L., 135 Siu, L. L., 1824F Siu, M., 3694W Siu, V. M., 1138T Siva, A., 2429F, 2450F Sivakumaran, T. A., 1764W* Sivapalaratnam, S., 1604T, 1606T Sivaramakrishna Rachakonda, P., 29 Sivils, K. M., 2284T Sivley, M., 2532W Sizer, E., 645T Sjödin, P., 3356W Sjöholm, K., 1271F Sjöstrand, C., 2804T Sjöström, L., 427F, 1271F Skalitzky, C., 3688W Skarnes, W. C., 2725W Skarpås, B., 3729F Skeie, J. M., 2750T Skibola, C., 3623F Skibola, C. F., 1104W, 2055W Skinner, C., 2806W, 2826F, 3185W Skinner, H., 1267T Skinner, M., 2220W Skipper, L., 497F Sklar, P., 290, 1325W, 2487W, 2576F, 2577W, 2618F Skoff, R., 2664F Skogstad, A., 2965W Skol, A. D., 2046W Skotheim, R. I., 213 Skov, R. L., 1323T Skovbo, P., 2862F Skovbo, S., 1565W Skovby, F., 2765T Skupien, J., 2313W Skuse, D., 2383T Sladek, R., 176, 1513F, 1923W, 2308T, 2339F Sladkova, J., 752T Slagboom, E., 2080T Slagboom, P. E., 1436W, 2035T, 2175W Slager, S., 1150T Slama, A., 325 Slate, N. G., 326 Slater, A., 1491T Slavin, T., 3085W* Slavotinek, A., 810F, 869W, 2926W*, 3162F Slawik, H., 2567F Slean, M., 2635T Slean, M. M., 2696T* Sleiman, P. M. A., 1996T, 2121W, 2514W*, 2546F, 2785W, 2892F Slepushkina, N., 1263W Slezer, R., 3688W Slifer, S., 2614T Slifer, S. H., 9, 2572T Slim, R., 2842W*, 2981T Sliwerska, E., 3368W Sload, J., 652T Sloan, C., 3612W Sloan, J., 721F, 738T Sloan, J. L., 664T*, 674T Sloper, L., 1663T Sloper, L. J., 3231W Slotta, D., 3582W Slovak, M. L., 945W Smagulova, F., 417F, 592W Smaldone, S., 815F* Small, G. W., 2637W Small, K., 583F* Small, K. S., 44, 3441T Smaoui, N., 330, 1676T, 1765W* Smart, C., 210 Smedby, K. E., 1934F, 2055W Smedley, D. P., 2725W* Smeets, D. F. C. M., 955W Smeets, H., 708T*, 796W Smeets, H. J. M., 1711T, 2448W, 2996T Smeitink, J. A. M., 672T Smets, K., 2820F Smiles, A. M., 2313W Smit, A. F. A., 195, 3270T Smit, M., 3200F Smith, A., 701F, 2794W Smith, A. C. M., 3080F Smith, A. J. P., 122* Smith, A. K., 1422T, 2384F, 2483F, 3480T* Smith, A. V., 2275T Smith, B. N., 348* Smith, C., 374, 564W, 1538W Smith, C. D., 3213W Smith, C. L., 2675T Smith, C. T., 3349F Smith, D., 453F Smith, E. A., 2047T Smith, E. N., 395*, 1659T, 2274W Smith, E. S., 1653T Smith, G., 671F, 3663F Smith, G. D., Session 21, 560W, 1528F Smith, J., 93, 2740W Smith, J. D., 170, 244 Smith, K., 568W, 2444F Smith, K. R., 2741T Smith, L. M., 1269W Smith, M. A. C., 1008W, 1132T, 2533T, 2534F, 3421T, 3503T Smith, M. W., 13 Smith, N. L., 1408F Smith, R., 886T, 3471T, 3636W Smith, R. A., 34 Smith, R. J. H., 60, 419F, 2301W, 2867T, 3228F Smith, R. L., 968T Smith, R. P., 246* Smith, S., 1186T Smith, S. C., 1661T Smith, S. M., 1537F* Smith, U., 1624T Smith, W., 774W* Smithson, S., 2896W Smithson, S. F., 217 Smogorzewska, A., 999W Smolarek, T., 3177W Snegovskikh, V., 3030T Snell, Q. O., 3643F Snella, E. M., 2717T Snieder, H., 2282F Snijders, A. M., 984W Snipes, G., 777W Sniukiene, V., 745F, 772W Snopkowski, C., 2260T Snyder, D., 3644W Snyder, M., 425F, 525F, 551F, 562W, 581F, 604T, 1505W, 1601T, 2322W, 3361F, 3368W, 3505T Snyder, M. P., 371, 416W, 3313F, 3411W Snyder, M. W., 74, 94* So, E., 544W So, I., 2437T So, J., 2657F* So, M. T., 1930T, 2066F So, W., 2280W So, W. Y., 2279F Soares, F., 1151F, 3325F Soares, R. A. G., 636T Soares-Souza, G., 1119W Soares-Souza, G. B., 3325F Soave, D., 2953W* Sobel, E. M., 38 Soblet, J., 83*, 1611T Sobol, M., 2920W Sobota, R., 2255F* Sobral, J., 2150F Sobreira, C., 2425T Sobreira, N., 227, 889W, 2387F*, 3131W Sobue, G., 52, 2472W, 3221W Socci, N., 998F Sochett, E., 3100F Soden, S. E., 366, 2793F, 2894T Söderberg, S., 2070W Soejima, H., 3499T, 3519T Soens, Z. T., 430W Soerensen, M., 2244W*, 2295W Soezima, H., 3432T SOFFOET, 77 Sohail, A., 2959W Sohn, W. J., 846F Sohn, Y., 3103W* Sohn, Y. B., 787W Soi, S., 3303T, 3338W* Soini, Y., 1114T Soininen, P., 1623T Solanki, N., 1779W Solberg, A., 991T Soldano, K., 1919F, 2340W Sole, G., 1516F Solé, G., 716T Soler, C. V., 2233T* Soliman, N. A., 2850F Sollier, C., 1182W Solnick, J. V., 449F Solomon, T., 1966T* Solot, C. B. S., 2443T Solovieff, N., 1325W* Solovieva, S., 2120F Solski, J. A., 2816T Solverson, P., 710T Solyom, S., 1229F* Somasundaram, P., 2056T Somerharju, P., 541F Sommargren, M., 1766W* Sommen, M., 59 Sommers, J. A., 2692W Son, N., 1590T SPEAKER AND AUTHOR INDEX *Presenting Author

406 404 SPEAKER AND AUTHOR INDEX Søndergaard, M. T., 2699T Song, C. X., 3483T Song, G., 1762W Song, H., 139* Song, I. W., 2858T* Song, J., 1657T Song, J. I., 3673F Song, K., 106, 2273F, 3020T* Song, L., 159 Song, O., 1675T Song, P., 3553F Song, S., 3567F Song, Y., 182, 557F*, 1259F, 2020T, 2246F, 2254T Song, Y. M., 1654T, 2118W Song, Y.-M., 1656T, 2119T Song, Y. S., 184 Song, Z., 3275W Sonnenberg, A., 2848W Sood, R., 664T, 824F, 1983W Soodyall, H., 3377W Soo-Jin Lee, S., 1844F Sooknanan, R., 3668W, 3721F* Soon, W., 416W Soong, B.-W., 2581T Sopher, B. L., 2628W Soplepmann, J., 1140W Soppet, D., 13 Sorant, A. J. M., 1347T, 1396F Soranzo, N., 44, 110, 383, 503F, 583F, 1604T, 2082W Sorarù, G., 1732W, 2775F Sorbrino, A., 957W Sørensen, T., 1528F Sørensen, T. I. A., 2116T, 3028T Soresina, A. R., 760W Soria, J. M., 1651T* Sorosina, M., 624T, 2095T Sorrentino, G., 1985F Sorrentino, P., 1985F Sosa, D., 1048T, 1049F Sosa, M. X., 13, 308 Sosman, J., 136 Sosnay, P. R., 1731W Sotiriou, C., 3017T Sotiroska, V., 2983T Sotomaior, V. S., 870T, 2475W, 3055W Sotoodehnia, N., 1585T Soubeyrand, S., 1645T Soubrier, F., 1170W Soucy, P., 207 Soufir, N., 29, 1062W* Soulier, A., 1817W Sousa, A., 1296T, 2736F Sousa, I., 1977W*, 2085W Sousa, R., 3122F Sousa, S., 913W, 1747W, 3019T Sousa, S. B., 2755W* Soussi-Yanicostas, N., 843F Soutar, A., 1618T South, S., 3088F Southam, L., 2044T, 3396T Southern, M. R., 1162T Southey, M., 1213T* Southey, M. C., 27, 3679F Southgate, L., 2804T* Souto, J. C., 1651T Souza, D. O. G., 2424W Souza, G., 3562W Souza, G. N., 2424W, 2626T Souza, I. R., 994T, 1405F, 1946F Souza, J., 870T, 959W, 2270F, 2746W, 3055W Souza, L. T., 2270F Souzeau, E., 1785W* Sovath, S., 2973T, 3023T Sovio, U., 2162F Sovová, J., 322 Spacek, D., 525F, 604T*, 3505T Spacilova, J., 752T Spadafora, P., 2597F Spaeth, J. M., 125 Spaich, C., 3111W Spain, S. L., 154, 1927T Spalding, J. D., 497F Spangler, J., 1244F Sparagana, S., 3108F Sparén, P., 1707T Sparks, A. B., 3020T Sparks, K., 3211W Sparso, T., 2311T Sparsø, T., 2317T, 2347T Speck-Martins, C. E., 2596T Spector, E., 451F Spector, T., 109, 583F, 1440T, 2165F, 2171F, 2292W, 3453T Spector, T. D., 44, 277, 335, 503F, 546W, 1216T, 1311T, 2029T, 2138F, 2175W, 2359T, 3441T Speed, D., 1394W* Speed, W. C., 3313F Spehlmann, M., 2368T Speicher, M. R., 1063T, 1115F, 3116F Speleman, F., 423F Speliotes, E. K., 1954T, 2090F, 2123F, 2147F, 2210F*, 2241W, 2275T Spence, S. J., 299 Spencer, C., 2157W Spencer, C. C. A., 1340W* Spencer, K., 2041T Spencer, K. L., 2042F Spencer, M., 1685T Spengler, S., 3111W* Sperber, S. M., 3163W* Sperl, W., 699F, 782W Sperle, K., 2664F Spertus, J. A., 2535W Speziani, F., 1871F*, 2930T Spiegelman, D., 1670T, 2306F, 2338T, 2342F, 2558F, 2591F Spier, I., 1005W Spindola, L. M. N., 2534F* Spinella, J., 394* Spinella, J.-F., 31, 3268F Spinella, J. F., 1207T, 1215W Spinner, N., 3082F Spinner, N. B., 2316W, 3040F Spiro, J. E., 299, 2439W Spitali, P., 574W* Spizzichino, L., 71 Spraggs, C., 630T Spraggs, C. F., 651T Sprissler, R., 2788W Spritz, R. A., Session 80 Sprott, K. M., 1171T Sprowl, J., 3007T, 3021T Spruill, I. J., 1662T Spurdle, A. B., Session 4, 1067F Spurrell, C. H., 26*, 1089W, 1226F Spyrou, C., 3017T Squire, K. M., 3666W* Srichomthong, C., 709F, 1944W, 2006F Sriha, B., 2744T Srikanth, A., 2491T Srikanth, S. M., 3316F Srinivasan, A., 3007T, 3021T* Srinivasan, M., 975W Srinivasan, R., 362 Srinivasan, S., 2943F Srinivasan, S. R., 2274W Sriram, G., 2238W Sritharan, K., 2525F Srivastava, A., 931W, 1587T, 1598T, 3465T Srivastava, A. K., 2826F*, 2837T Srivastava, D., 195 Srivastava, G., 380, 3450T Srivastava, G. P., 3417T* Srivastava, N., 1134W Srivastava, P., 1135T* Srivastava, R., 1287T, 1294F, 1883F Srivastava, R. N., 1288F* Srivastava, V. M., 931W* Srour, M., 2790F* Staats, S., 3377W Stack, C. A., 632T Stacpoole, P. W., 164 Stade, B., 3583F* Stadler, Z., 998F, 1159T, 1841W Staggs, R., 1665T Stahl, E., 350, 2199W* Stahl, E. A., 625T, 1331W, 2210F, 2258F Ståhle, M., 2276F Stainier, D., Session 26 Stajich, J., 1919F, 2946F Stalker, H., 3126F Stalker, J., 216 St-Amant, M., 1065W Stamato, T., 1142F Stamatoyannopoulos, J., 3459T Stamatoyannopoulos, J. A., 255*, 402 Stambolian, D., 2183F Stambouli, D., 2728W Stan, A., 2954T Stanaway, I. B., 10 Stanaway, I. B. S., 2443T Stančáková, A., 46 Stanek, E. J., 1714T Staneva, R., 3477T, 3481T* Stanford, J., 28, 1001F Stanford, J. L., 1214F, 2202W Stangier, K., 3701F* Stanhope, S., 1395T* Stanier, P., 303, 2752W*, 3501T Stankiewicz, P., 229, 430W, 432W, 485F, 952T, 2395T, 2403W Stankiewicz, P. T., Session 22 Stanley, K., 2003F Stanton, J., 3333T Staples, J., 223* Stapleton, E., 239 Stark, A. L., 614T* Starker, L. F., 1241F Stassinopoulos, A., 3720W State, M., 13, 553F, 1433W, 2478W, 2605T State, M. W., 2560T, 2577W, 2602T Stathaki, E., 2937F Staufenbiel, I., 2058W Stavropoulos, D. J., 103, 3100F, 3106F, 3183W Stavropoulos, J., 1872F, 1873F Stavropoulou, A., 1228T* Stavropoulou, A. V., 1191W Steck, A. K., 1330F Steckley, J. L., 2779W Steel, K. P., 1, 105, 2302T Steele, L., 2905W* Steele, P. D., 1759W Steele, T., 3340F Steenpass, L., 392* Steensbjerre Moller, R., 889W Stefan, M., 573F* Stefani, M. M. A., 2475W Stefanick, M. L., 2145W Stefanidis, C. J., 2850F Stefanova, I., 219 Stefanovic, V., 3481T Stefanowicz, D., 1465F Stefansson, H., 106, 252 Stefansson, K., 106, 583F, 2165F, 2317T Steffann, J., 72* Steger, M., 782W Stegger, M., 1323T Stein, C. M., 1295W* Stein, J., 75 Stein, J. L., 2054F Stein, L., 135 Stein, L. D., 1093T Steinbeisser, H., 1612T Steinberg, J., 2476T* Steinberg, S. J., 3448T Steinfeld, I., 3588W Steinmann, K., 299 Stejskal, D., 2865F Stemming, J., 1680T Stemple, D., 363 *Presenting Author

407 SPEAKER AND AUTHOR INDEX 405 Stemple, D. L., 37, 214 Stenroos, E. S., 2501F Stephan, D. A., 2301W Stephan, M., 2740W Stephans, J., 1198T Stephens, J., 383 Stephens, J. C., 503F, 1604T, 2804T Stephens, K., 1753W Stephens, M., 273, 1463W, 1514W, 1580W Stephenson, M., 2977T Stephenson, R., 1328W Stergiakouli, E., 2081F Steri, M., 1516F*, 2198F Stern, M. C., 1075T Stern, M.-H., 1205F Sternberg, C. N., 651T Stevanin, G., 2820F* Stevanovic, S., 1233W Stevens, A. J., 3440T Stevens, C., 8, 290, 322, 2319W Stevens, C. R., 2613W Stevens, E., 3374W* Stevens, J., 412W, 486W, 532W, 851F, 1146W, 2397W Stevens, K., 615T Stevens, V., 1012T Stevens, V. L., 1390F Stevenson, D., 3177W, 3189W Stevenson, D. A., 3076F Stevenson, R., 3185W Stevison, L., 285 Stevnsner, T., 2244W Steward, M., 3310F Stewart, A., 126 Stewart, C. L., 2914W Stewart, D. R., 132*, 1261T Stewart, E. A., 1145F, 2056T Stewart, F., 512W, 3517T Stewart, F. J., 218, 3702W*, 3715F Stewart, H., 2939T Stewart, R., 1269W Stewart, W., 1407T* St. George-Hyslop, P., 2528F Stiasny-Kolster, K., 2568W Stiburkova, B., 2831T* Stiby, A. I., 1567F* Sticht, H., 2595W Stieler, K., 2760F Stienen, D., 1005W Stieren, J., 3671F Still, C., 2078F Stimpson, K. M., 69* Stitzel, M. L., 304 Stitziel, N., 2199W St. Jean, P. L., 476W, 3406T St. Luke s Dementia Study Group, 2466W, 2473T Stobdan, T., 3307F Stock, F., 2869W Stock, R., 1309F Stöcker, T., 1335T, 1430W* Stockler, S., 750T*, 756W Stockley, T., 3183W Stockley, T. L., 2905W Stockton, D., 885W, 3147W Stockton, D. W., 2678T Stoddard, G., 1904F Stoeger, R., 1580W Stoessl, A. J., 346 Stoetzel, C., 2887W Stofanko, M., 3107W, 3110F Stojanov, P., 402 Stok, M., 796W Stokes, P., 3700W Stokes, T., 3011T Stoler, J., 2151W Stoletzki, N., 402 Stolk, L., 2141F Stoll, C., 3073W* Stoll, M., 3577F Stolle, C., 2904F Stolte- Dijkstra, I., 127 Stone, A., 3306T Stone, A. C., 3251W Stone, B., 3527F Stone, D. U., 529F, 2188T Stone, E. M., 387, 2750T Stone, K. L., 2375F Stone, N., 1309F Stoppa-Lyonnet, D., 1205F Storey-Montalvo, G., 2272T Storm, K., 2757F Stormo, C., 576W* Storniolo, A. M., 1098W Stowe, Z. N., 2384F St. Pourcain, B., 1318F, 1567F, 1583W, 2081F, 2164T*, 2169W Strachan, E., 434W Strader, L. C., 1566T Straka, R., 1641T Stram, D., 1324F Stram, D. O., 1292W, 2202W Strandgren, C., 2427W Stranecky, V., 752T Stranger, B., 3310F Stranger, B. E., 584W, 1907F, 2250W Strassburger, D., 3002T Strasser, D. S., 684T Strauch, K., 190, 275, 2226W Strauss, D., 1159T Strawbridge, R., 2147F Strawbridge, R. J., 1954T, 2123F Stray, S. M., 1089W, 1226F Stray-Pedersen, A., 360, 2908W Strazza Júnior, P. S., 3280F Strecker, M., 954T Strecker, V., 782W Street, C., 382 Streeter, I., 3636W Strengman, E., 2553W, 2661W Strick, R., 3153W Strickland, A., 2668W Strike, L., 2054F Stringham, H. M., 46 Strissel, P., 3153W Strohecker, B., 3698W Strom, C. M., 2260T, 3522T Strom, S. S., 2202W Strom, T., 567F, 582W, 2557T Strom, T. B., 2260T Strom, T. M., 699F, 2567F, 2595W, 2693T, 2917W, 2922F Strome, E. D., 384 Strong, E., 3482T* Strong, K. A., 1837W* Strong, L., 1197W Strong, L. C., 1221W Strother, D., 1052F Stroud, D., 806F Stroud, T., 884T Strovel, E., 1729W Strug, L., 2953W Strug, L. J., 1322W, 1531F*, 2580W Strunz, C. M. C., 636T Strutz-Seebohm, N., 86 Stuart, A., 3672W Stuart, P. E., 154, 1952F Stuart, S., 1167W Stückler, F., 2226W Stuckless, S., 1066T* Studer, M., 808F Study AT Principal Investigators, 732T Study of Osteoporotic Fractures and Osteoporotic Fractures in Men Study Groups, 2375F Stuenkel, A. J., 1767W* Stuffrein-Roberts, S., 3440T Stuhrmann-Spangenberg, M., 1868F Sturm, M., 1200W, 1233W Sturtz, F., 2694F Sturzeneker, R., 2434T Stutz, M., 210 Stutzman, F., 2887W Styrkarsdottir, U., 109 Su, A. I., 3584W* Su, B., 3317W* Su, C., 2761W Su, C.-T., 129 Su, D., 1322W, 2953W Su, H., 1010F, 1218W Su, J., 1183T, 2999T Su, M., 2000F*, 2116T Su, S., 3418T Su, W., 989F Su, Z., 136 Suárez, E., 3315T Suchi, S., 1765W Suchiman, H. E. D., 2035T Suchy, S. F., 330 Suchy-Dicey, A., 584W, 1284T, 1503T Suda, L., 3044F Sudbrak, R., 567F, 582W Sudlow, C. L., 1313W Sudman, M., 2143T* Sudmant, P. H., 278, 375, 3296W Sudo, A., 2822T Suematsu, M., 2911W Suemoto, C. K., 919W Suen, Y. K., 3491T Suenaga, T., 1631T Sugahar, K., 2861T Sugahara, K., 3230F Sugahara, Y., 548W, 558W, 559F, 599F Sugalski, R., 433F Sugano, S., 2619W, 2923W Sugawara, H., 3513T Sugawara, Y., 3091W Sugier, P.-E., 2079W*, 2248T Sugimoto, K., 1987T Sugimura, H., 2507F Sugino, S., 1940F Sugiyama, M., 2130W, 3682W Suh, J. Y., 846F Suhl, J., 540W* Suhre, K., 228, 2226W Sui, D., 1291F Sukhadia, S., 2316W Suktitipat, B., 1347T, 1396F*, 1690T Sukumar, A. T., 3251W Sul, J., 1341T*, 3555F Sul, J. H., 3623F Sulcova, V., 3522T Sule, G., 2864T, 3209W* Sule, N., 2542T* Sulem, P., 2317T Sulis, M. L., 1031F Sullivan, A. K., 2362T* Sullivan, B. A., 69, 384* Sullivan, J., 147 Sullivan, K., 953W, 2778F Sullivan, L. L., 69, 384 Sullivan, L. S., 3234F Sullivan, P., 235, 280, 1325W, 2487W Sullivan, P. F., 290, 1350T, 2468F, 2522F, 2576F, 2618F, 3442T, 3452T, 3659F Sulonen, A.-M., 2888T* Sulovari, A., 1339F Sultan, K., 1133F Sultan, M., 567F, 582W Sultana, R., 2697F Sumanas, S., 2724F Sumi, S., 2440T Summar, M., 670T Summerer, M., 3319F Sumner, C., 512W, 3517T, 3715F Sumner, C. J., 3702W Sun, C., 1625T, 2561F Sun, G., 1660T, 2159F, 2206T, 3561F, 3619F Sun, H., 314, 1417F*, 1735W, 1742W, 1757W, 1761W Sun, J., 3 Sun, L., 798W, 1322W, 1412W, 2109W, 2376W, 2819T, 2953W Sun, M., 2458T Sun, N., 2433W* Sun, P., 1061F Sun, Q., 165, 537F, 2080T, 2116T SPEAKER AND AUTHOR INDEX *Presenting Author

408 406 SPEAKER AND AUTHOR INDEX Sun, S., 1101W, 3585F*, 3593F Sun, W., 1027T, 1560T*, 2260T, 3522T Sun, X., 246, 2644T* Sun, Y., 78, 161*, 690T, 736T, 2063F, 2701W Sun, Z., 2617T Sunaga, D. Y., 814F, 2414F Sundararajan, R., 803W Sundaresan, V., 2773W Sunde, L., 3148F Sunderam, U., 362 Sundramoorthy, A., 880T* Sundsbak, J. L., 1909T Sung, H., 1396F, 1690T*, 2584T Sung, J., 1384F, 1654T, 1656T, 2118W, 2119T, 3259F Sung, K., 1369F Sung, S., 900T Sung, Y., 1608T, 2063F, 2117F Sung, Y. J., 2116T Sunkin, S., 2444F* Sunyaev, S., 402*, 2199W, 2209T, 3310F Sunyaev, S. R., 1550W, 3404T Sunyer, J., 2167T, 2168F Suomalainen, A., 327 Superko, H. R., 1714T* Superti-Furga, A., 3190F Suphapeetiporn, K., 709F, 1944W, 2006F*, 2749W Sur, A. L., 1805W Surakka, I., 119*, 190, 1308T, 2076W, 2110T, 2137T, 2175W Surdulescu, G., 503F Surti, U., 904T*, 971W, 993W, 1744W Suskin, B., 3022T* Susswein, L., 688T Sutcliffe, C., 1316W, 1377T, 1602T, 1671T, 1928F, 2037W Sutcliffe, J., 1520W Sutcliffe, J. S., 268, 2577W Sutera-Sardo, J., 2536T Suthanthiran, M., 2260T Suther, R., 3207W Sutherland, M., 853F Sutton, V. R., 33, 227 Suvarnan, L., 2234F Suver, C., 2220W Suvisaari, J., 252 Suzuk, Y., 2294F Suzuki, A., 531F, 1984T*, 2004W Suzuki, A. M., 2654F* Suzuki, H., 663F, 1631T Suzuki, M., 475F, 2440T Suzuki, N., 2882T Suzuki, S., 2440T Suzuki, T., 1317T*, 2823F Suzuki, Y., 1631T, 2174F, 2264F, 2619W, 2923W Svaneby, D., 1565W Svensson, P., 2369F Svensson, P.-J., 3245W Svetkey, L. P., 147 Svidzinski, A. E., 3324T* Svirski, R., 2691F Swami, S., 585F Swaminathan, K., 3726W Swaminathan, S., 2531F Swamy, S., 596W Swan, G. E., 642T Swan, H., 1835W Swanson, D. M., 1397W* Swanson, W., 3306T Swaroop, A., 385, 822F, 824F, 827F, 830F, 1774W, 2135F, 2183F, 2680W Swedish Schizophrenia Consortium, 2487W, 3442T, 3452T Swedish Schizophrenia Consortium, ARRA Autism Sequencing Consortium, 290 Sweeney, T., 397 Sweetman, L., 1684T Swenson, J., 3182F Swerdlow, A., 2165F Swertz, M. A., 3610W Swierczek, S., 3297T Swift, C., 1684T Swindell, E. C., 1908W Swindle, K., 1983W Swinkels, D. S., 306 Swinkels, M. E., 217 Swoboda, K. J., 2581T, 2951T Swofford, D. L., 1382W Syed, F., 3718W* Syed, S., 83 Symer, D. E., Session 24 Symoens, S., 129, 2225F Symons, R. C. A., 1989W Syngelaki, A., 3508T Synofzik, M., 2797W Syoji, K., 2619W Sysoeva, E., 773W Sysol, J. R., 2683W Syvänen, A.-C., 567F, 569F, 582W, 617T, 619T, 1624T, 3217W, 3427T Szabo, C., 1219T Szafranski, K., 580W, 1236W Szafranski, P., 432W, 2395T* Szak, S., 2561F Szatkiewicz, J. P., 1350T* Szatmari, P., 175, 2620T*, 3086F Szekely, A., 334 Szelinger, S., 3215W* Szepetowski, P., 2581T Szeto, D., 1605T Szigeti, K., 2489F*, 2542T Szkotnicki, L., 3648W Szkotnicki, L. T., 1251W Sznajer, Y., 124 Sznewajs, A., 3198F* Szperl, A., 1330F Szpiech, Z. A., 3285T* Szporn, A., 3145W Szulkin, R., 1189T* Szulwach, K., 382 Szulwach, K. E., 3483T* Szuto, A., 2342F, 2591F Szu Tu, C., 346, 2537F Szymanska, K., 403 Szymanski, M., 2461T, 2486F Szymczak, S., 1363F*, 1512T, 1669T, 3591F T T1DGC, 1299T T2D-GENES, 176 T2D-GENES Consortium, 169, 269 Taal, H. R., 2081F, 2162F Tabara, Y., 2361W* Tabatabai, Z. L., 408 Tabatabaiefar, M. A., 59 Taber, T., 693F, 713F Tabet, A. C., 901W* Tabor, H. K., Session 25, 74, 94, 148, 171, 301*, 1842F Taboulet, F., 1811W Tabuteau, S., 716T Tachdjian, G., 894T Tachmazidou, I., 2044T, 3396T, 3412T* Tackney, J., 3323W Tag, J., 1295W Taggart, R. T., 3523T* Taghikhani, A., 1143W, 1739W Taghizadeh, M., 779W* Tagliaferri, R., 3631F Taguri, M., 1290T Tahar Yacoubi, M., 403 Taher, L., 407, 545F Taherian, N., 1065W Tahir Turanli, E., 2429F, 2450F, 2841F, 3475T Tahmasebifar, A. T., 1096T Tai, E. S., 2094W Taibah, K., 2734W Taira, M., 2409W* Taja, L., 2365T Takada, L., 2639F Takada, T., 663F Takada, Y., 663F Takagi, S., 2569T Takahashi, A., 627T, 1631T, 2004W, 2174F, 2506T Takahashi, H., 396 Takahashi, K., 1998W, 1999T Takahashi, M., 799W* Takahashi, Y., 52, 233, 2409W, 2569T* Takamura, T., 1888T Takanari, H., 217 Takanohashi, A., 2452T Takao, K., 2550W, 2647T Takashima, H., 2418W*, 2601W, 2607W, 2616W, 2823F Takata, R. I., 2596T Takazoe, M., 2174F Takeda, S., 232 Takenouchi, T., 3093W Takeshima, Y., 729F, 781W Takeuchi, G., 2747T Talajic, M., 1678T Talasar, A., 1167W Talbot, K., 2470T Talebizadeh, Z., 2379W* Talebzadeh, F., 860T Talim, B., 751F, 2945T Talkowski, M., 70, 98, 2562W Talkowski, M. E., 68*, 103, 554W, 862T, 2458T Tallila, J., 252 Talmud, P. J., 122, 2175W Talseth-Palmer, B. A., 916T Tal-Singer, R., 2249F Talwar, D., 2788W Talwar, P., 2967T Tam, A., 3085W Tam, C., 2279F, 2280W* Tam, K., 142 Tam, P. H., 3123W Tam, P. K. H., 408, 1930T, 2066F, 2932W Tam, S., 2660F Tam, T., 675F Tamada, I., 3192F Tamakoshi, A., 1833W Tamari, M., 2294F Tamaru, S., 2873T Tambets, K., 3286F* Tamburrini, G., 2235W Tamhankar, P., 2803W Tamiya, G., 1317T, 1549F Tamm, R., 2144F* Tammaro, R., 808F, 2810T Tammela, T. L., 995F, 1000T, 1302T Tammesoo, M. L., 1832F Tampakeras, M., 2608T Tamraz, B., 335 Tamura, A., 3221W Tan, A., 1446T* Tan, A. G., 2094W Tan, C., 1737W, 3090F Tan, C. S., 2561F Tan, D. E. K., 1934F Tan, E. C., 2889F, 3034T* Tan, G., 3200F Tan, M. H., 527F Tan, P., 2889F Tan, Q., 1365T, 2244W, 2295W Tan, W., 1242W Tan, X., 2251T, 3089W, 3648W Tan, X. X., 1251W Tan, Y., 1618T, 3210F* Tanabe, O., 52 Tanaka, H., 396, 2174F, 2697F, 2822T Tanaka, K., 2133W Tanaka, M., 233 Tanaka, T., 1391W, 1631T, 1643T, 2080T, 2116T Tanaka, Y., 2130W Tanck, M. W., 1604T *Presenting Author

409 SPEAKER AND AUTHOR INDEX 407 Tandon, A., 350, 3433T Tandy, S. L., 1767W Taner, N., 380 Tanese, K., 2911W Tang, C. S., 2161T*, 2323T Tang, C. S. M., 1930T, 2066F Tang, F., 491F Tang, G., 893W* Tang, H., 159, 421F, 581F, 646T, 1157F, 1408F, 1504F, 2223W, 2634W, 3318T, 3342T, 3383W Tang, L., 589F Tang, L. F., 362 Tang, L. Y., 2985T Tang, M., 2973T, 3023T* Tang, P., 2254T Tang, P. L. F., 1694T Tang, W., 510W*, 1091F, 1092W, 1094F, 1097F, 1155W Tang, X., 2237F Tang, Y., 1591T* Tang, Z., 170, 966T* Tang, Z.-Z., 1010F Tang, Z. Z., 1076F Taniguchi, A., 2004W, 2032T*, 2287T, 3221W Taniguchi, H., 8 Taniguchi, M., 232* Taniguchi, T., 137 Taniguchi, Y., 2458T Tanioka, F., 2507F Tanizawa, Y., 2679F Tanna, U., 3378T Tan-Sindhunata, G. M. B., 214 Tantau, J., 77 Tantisira, K., 623T, 638T Tantisira, K. G., 622T, 625T, 811F, 2166W Tantravahi, U., 765W Tanzer, A., 506W Tanzi, R. E., Session 10, 2520W Tao, J., 411 Tao, K., 1783W Tao, R., 73 Tapia-Guerrero, Y., 3124F* Tapscott, S., 2840T Tapscott, S. J., 55 Tarabishy, Y., 1238F Tarantino, P., 2763F, 2766F, 2774T, 2780T* Tarasova, L., 608T Tarassov, I., 329 Tarazona, E., 3562W Tarazona-Santos, E., 1119W, 3325F* Tardif, J., 665F* Tardif, J.-C., 3401W Tardón, A., 1091F Tare, A., 1988F Tarekegn, A., 3322F Tarini, B. A., 313 Tario, J. D., 3523T Tariq, M., 1674T*, 2920W Tariq, N., 2959W Tariq, S., 160 Tarlé, R. G., 1978T* Tarn, C., 853F*, 2300F Tarnopolsky, M., 2554T Taroni, F., 2764W, 2775F, 2781F* Tarrier, B., 1568W, 2329T, 2850F, 3664W Tartaglia, M., 215 Tarway, M., 1097F Tasan, M., 2660F Taschner, P., 3586W* Taschner, P. E. M., 3610W, 3611F Tascón-Peñaranda, E. P., 3315T, 3363T Tashiro, K., 724T, 2129F Tashtosh, R., 1881W Tasic, V., 845F Taskiran, E., 219 Tasseva, G., 2755W Tassone, F., 2491T, 2634W Tat, M., 1167W Tata, S., 3569F Tatar, A., 1326T Tatè, R., 2810T Tatonetti, N., 646T Tatum, Z., 3611F Taub, M., 2461T, 2566T Taub, M. A., 1512T Taub, P. J., 2151W Tauer, U., 2917W Tavano, C., 3677F Tavares, A., 691F Tavares, P., 1778W* Tavares, V. L. R., 813F* Tavendale, R., 1082F Tavernier, J., 2660F Taviaux, S., 857W, 936T, 2386T Tavormina, J., 76 Tavtigian, S. V., Session 4, 195, 1067F, 1213T, 1783W* Tawamie, H., 2557T Tawil, R., 55, 2840T Tawk, M., 54 Tay, S. K. H., 771W Tay, W. T., 2094W Tayama, C., 3499T Tayel, S., 930T* Taylor, A., 1257W Taylor, H. A., 1677T Taylor, H. G., 1295W Taylor, J., 967W, 2939T, 2989T*, 3547F Taylor, J. C., 133*, 211 Taylor, J. F., 2847F Taylor, J. G., 1259F Taylor, J. S., 1272W* Taylor, K. C., 2145W* Taylor, K. D., 1445W, 1916F, 2153F Taylor, K. M., 2796F Taylor, K. T., 2131T Taylor, L., 142 Taylor, M., 1318F* Taylor, N., 1109F Taylor, P., 315, 2874F* Taylor, P. L., 1836F Taylor, P. R., 1010F, 1076F, 1218W Taylor, S., 218 Taylor, S. P., 1685T Tayo, B., 1959W*, 2063F Teckman, J., 735F Tedeschi, G., 2095T Tedeschi, H., 514W Teer, J. K., 1690T, 1696T Teerlink, C., 1001F*, 1149W Tegg, E., 932T* Teglas, S., 107 TeGrootenhuis, L. T., 2301W Teh, M. S., 3267T Teichgraeber, J. F., 1908W Teilum, M. W., 1194W Teimori, H., 892T Teive, H. A., 2475W Teive, H. A. G., 2609F Teixeira, P., 1593T Tejasvi, T., 154, 1952F Tejeda, L., 507F Tejero, E., 526W Tekin, M., 57*, 297, 2719W, 2772F, 3125W Tembe, W., 1240T te Meerman, G. J., 1284T, 1503T Temel, S., 1708T* Temple, I. K., 3494T* Templeton, A. K., 566W Temtamy, S., 2937F Teng, W., 2721F Teng, Y., 655T* Tengström, M., 1114T Tengvall-Linder, M., 1939T ten Kate, S., 3159W Tenniswood, M., 1192T Teo, Y., 1418W Teo, Y. Y., 2094W, 3284W, 3339T Tepperberg, J., 949W Terai, M., 1631T Teramo, K., 3030T Terao, C., 2004W, 2361W Terdiman, J., 1059W Terhal, P., 217 Terhal, P. A., 2848W, 2886F Terhorst, L., 1884W Terk, M., 1309F Ter Kuile, M., 1788W Terrier, B., 177 Terry, J. G., 1913F Terry, M. B., 1213T Terwilliger, J. D., 194, 897W, 1563T, 2179T*, 2208W Terwisscha van Scheltinga, A. F., 2526W* Terzi, Y. K., 594W, 1013F, 3003T, 3243W, 3424T, 3426T* Terzioglu, G., 2429F Tesar, V., 3437T Tesarova, M., 699F, 752T* Teslovich, T. M., 46, 169*, 176, 269, 1513F, 1923W, 2308T, 2339F Tesmer, T., 3689F Tessari, M., 2696T Testa, F., 2950W Tester, D. J., 2885T, 2906T* Tétreault, M., 2797W, 2900T* Teumer, A., 275, 584W, 1284T, 1503T, 2080T* Texas Alzheimer Research and Care Consortium, 2489F Teyssier, J.-R., 2729T Tezcanli Kaymaz, B., 1025F Tezenas du Montcel, S., 2545T* Thacker, M. M., 33 Thackray, L., 3600W Thair, S. A., 1632T* Thakkar, P., 865W Thakur, M. L., 797W Thangaraj, K., 1950W, 2967T, 2988T Thangavel, A., 3369T Thappa, B., 802W Thareja, G., 3369T Thauvin-Robinet, C., 403, 2716W, 2729T, 2770W, 2792T Theda, C., 3484T* Thedens, D. R., 404 Theis, F. J., 2226W Theis, J. L., 1695T* Thekkoot, D. M., 2717T Thelma, B. K., 2382W, 2941W* Thenral, S. G., 2941W Theodore, D., 630T Thera, M., 2255F Theusch, E., 601T, 615T* ThevaDas, K., 1625T Thevenon, J., 1293T*, 2716W, 2770W, 2792T Thézé, N., 841F Thibert, R., 3119W Thibodeau, S., 28, 1001F, 1267T Thibodeau, S. N., 986F, 1067F, 1080W, 1206W, 1214F*, 3564W Thiebaud, P., 841F Thiede, A., 849F Thiel, C. T., 2356T* Thiele, H., 105, 2759T, 2861T, 2869W, 2930T, 2944W Thiering, E., 2162F Thiesen, M., 3579F Thiffault, I., 2771T* Thilbeault, K. S., 434W Thiruvahindrapuram, B., 175 Thiselton, D. L., 2500T Thistlethwaite, P. A., 1051T Thobois, S., 2638T t Hoen, P. A. C., 228, 542W, 567F, 574W Thoenes, M., 236 Thoeng, A. D., 2816T Thomale, J., 3524T Thomas, A., 2181W, 3508T Thomas, A. C., 303, 3501T* Thomas, A. W., 658T Thomas, B., 295, 1248W Thomas, C. E., 2241W Thomas, D., 1232F, 1569T*, 3717F SPEAKER AND AUTHOR INDEX *Presenting Author

410 408 SPEAKER AND AUTHOR INDEX Thomas, E., 1618T Thomas, E. R. A., 2005T Thomas, J., 368 Thomas, K., 2492F Thomas, K. A., 2121W Thomas, K. B., 1251W, 3648W Thomas, L., 29 Thomas, L. I., 727F Thomas, M. A., 3141W, 3511T Thomas, M. G., 3322F Thomas, M. K., 50 Thomas, P., 2262W Thomas, R. G., 2405F Thomas, R. H., 262, 2821W Thomas, S., 403*, 456W, 3240F Thomasse, Y. E. M., 2909T Thomassen, G., 3614W Thompson, A., 45, 1082F, 1088F, 2620T Thompson, B., 300 Thompson, B. A., 1067F*, 1274F* Thompson, C., 346, 2537F Thompson, C. L., Session 76, 1086W Thompson, E. A., Session 75 Thompson, E. R., 1224W* Thompson, J., 3529F, 3637F, 3656W, 3703F* Thompson, J. R., 115 Thompson, M. D., 298 Thompson, M. K., 3314W Thompson, N. E., 1821W* Thompson, P. M., 2054F Thompson, S., 2143T, 3303T, 3338W Thompson, Z., 1061F Thomson, N., 3528W, 3662W* Thorburn, D. R., 326 Thorgeirsson, S., 1199F Thorisson, G. A., 3610W Thorland, E. C., 66 Thorleifsson, G., 109, 119, 1308T, 2076W, 2137T Thorn, C. F., 633T, 635T Thornton, A. M., 26, 1089W, 1226F, 2600F Thornton, C., 2824W Thornton, T., 1424W* Thornton-Thompson, S., 3449T Thornton-Wells, T., 1925F, 2532W Thornton-Wells, T. A., 2401T, 3275W Thorsteinsdottir, U., 115, 2165F, 2317T Thrush, D. L., 103 Thun, M., 1012T, 1091F, 1154F Thurman, R. E., 255, 402 Thusberg, J., 496W Thyagarajan, B., 1921T Tian, A., 3695F Tian, C., 2915T Tian, L., 2722W*, 2856F, 2872W, 3561F, 3710W Tian, Q., 2053T Tian, S., 1269W Tian, Y., 553F, 2479T* Tibben, A., 1788W* Tibbetts, C., 1165T Tibbo, P., 2474F Tibboel, D., 834F Ticca, A., 2039F Tice, R., 3490T TIC Genetics Team, 2602T Ticozzi, N., 2775F TIDE BC, Treatable Intellectual Disability Endeavor in British Columbia, 750T Tidhar, R., 2869W Tidyman, W. E., 3242F Tiemeier, H., 431F, 2105F, 2164T Tien, L., 2785W, 2892F Tienari, P., 2350T Tien Yin, W., 2041T Tieva, A., 1026W* Tiffin, N., 1808F Tifft, C., 359, 2870T Tifft, C. J., 2938W, 3543F Tikhomirov, A., 2333F* Tikkanen, E., 1709T* Tiller, G., 1866F Tilley, M. K., 3616W Tilling, K., 1583W Tillis, C., 3036F Tillman, V., 2703F Tillmann, H., 531F Tillmans, L. S., 986F Tiloca, C., 2775F Tim, R. C., 3014T Timman, R., 1788W Timmerman, V., 201, 2948T Timmermans, J., 80 Timmers, H. J. L. M., 1220F Timms, L., 1093T, 1256F* Timpano, K. R., 261 Timpson, N., 1567F, 2097W, 2164T Timpson, N. J., 1318F, 1528F, 1583W, 1626T, 2081F*, 2162F, 2169W Timur, Z., 2669T Tin, A., 1932W* Tinat, J., 32, 1222T* Tincheva, R. S., 923W Tindall, E. A., 1085F* Ting, W., 1894T Tingaud, A., 841F Tinker, L., 2020T Tinker, S. W., 253 Tinschert, S., 2403W Tintle, N., 1371T* Tiomkin, M., 788W Tipney, H., 649T Tipton, l., 249 Tiraboschi, E., 1976F Tirado, C. A., 873W, 970T* Tiranti, V., 2810T Tirapo, C., 1205F Tiret, L., 2681T Tirri, D., 2377T Tischfield, J., 2582F Tischfield, J. A., 261, 2433W, 2602T Tischkowitz, M., 1257W* Tischler, T., 2904F Tishkoff, S., 283, 518W, 3306T Tishkoff, S. A., 3303T, 3338W Title, A., 3506T Titus, T., 2916F Tivey, A., 101, 291, 364 Tiwari, A., 628T Tiwari, H., 1410T, 3443T Tiwari, H. K., 434W Tiziano, F. D., 54 Tjernagel, J., 299 To, K., 2254T To, M. N., 2384F Tobias, E., 126 Tobias, J. H., 1528F, 2169W Tobin, K., 2523W Tobler, K. J., 2998T* Toburen, D., 3677F Tochigi, M., 2370W Toda, T., 232, 2550W, 2619W, 2963T, 3513T Todd, E., 3232F, 3244F* Todd, J., 453F Todorovic, S., 201 Toes, R., 461F Tofanelli, S., 3377W Toffey, D., 2218T Toga, A. W., 3587F Tohonen, V., 807F Toi, A., 3075W Toji, L., 966T Tokarz, S., 2830W, 3287W Tokita, Y., 1574W, 2747T Tokuda, Y., 2129F Tokunaga, K., 1994F, 2130W, 2349W, 2496W, 2656T, 3301F Tokunaga, S., 2418W, 2607W, 2616W, 2823F* Tokuzawa, Y., 2873T Toland, A., 1740W* Toland, A. E., 1274F Toledo, R. C., 3324T Toledo, R. C. P., 3375T* Tolentino, C., 2136W Toliat, M. R., 2861T Tolmie, J., 127 Tolstrup, N., 1194W Toma, A. M., 1528F Toma, C., 2578T* Toma, J., 3682W Tomaselli, G. F., 305 Tomasini, L., 334 Tomatsu, S., 786W* Tomblin, J. B., 1973F, 3735F Tomczuk, M., 2675T Tomelleri, G., 1776W Tomer, Y., 573F Tominaga, M., 2891T, 3094F Tomiuk, M., 954T Tomiyama, H., 1730W*, 2559W, 2619W, 3134F, 3221W Tomizawa, K., 2822T Tomlinson, I., 133, 1072T, 1531F, 2580W Tomlinson, J. W., 3211W Tomlinson, M. W., 3020T Tommerup, N., 805F Tommiska, J., 2707W* Toncheva, D., 3477T, 3481T Toncheva, D. I., 923W Tonduti, D., 2786T Tonekaboni, S. H., 3197W Toneva, I., 3636W Tong, C., 2721F Tong, C. H., 1603T Tong, L., 2025W Tong, S., 238 Tong, X., 1540F Tong, X.-Z., 166 Tonge, P., 3463T Tongkobpetch, S., 709F, 1944W, 2006F Toniolo, D., 2165F, 2366F Tönjes, A., 2080T Toome, K., 1140W Topacio, D., 1237T Topaloglu, H., 54, 201, 751F, 2945T, 2948T Topcuoglu, N., 1025F Topete -Gonzalez, L. R., 3187W TOPIC Study, 243 Topol, E. J., 146, 1239W, 1839W Topp, S., 348 Topper, S., 1737W* Topuz, F., 1746W Torabi Dalivandan, S., 3083W* Toralles, M. B. P., 2642F Torchia, B., 902T* Torelli, S., 2812W Torgerson, D. G., 158 Toriello, H., 3037W Torii, C., 2882T, 3093W, 3105W Tornador, C., 2303F, 2593T Tornes, L., 2049W Torniainen, M., 252 Toro, C., 359, 2610W, 2870T, 3543F Toro, J. R., 766W, 1012T* Toro-Ramos, A. J., 2433W Torres, F. R., 514W, 2876T* Torres, J. M., 2192F* Torres, L., 875W, 956T, 1049F Torres, M., 2153F Torres, M. M., 2456F Torres, N., 526W Torres, T. T., 813F Torres, V. E., 1909T Torres-López, J., 1168T Torres Maldonado, L. C., 1048T* Torri, F., 2459F, 2469W, 2564F, 3587F* Torrico, B., 2578T Torstenson, E., 1489F, 3275W, 3603F* Tortorella, G., 2766F *Presenting Author

411 SPEAKER AND AUTHOR INDEX 409 Torun, D., 590W, 1136F*, 3195W Tosca, L., 894T Toscanini, U., 3364F, 3402T Tosi, L. L., 33 Tosi, M., 1222T Tosolini, L., 1607T Toth, C. L., 162 Totoki, Y., 396 Tou, B., 894T Touho, H., 1290T Touitou, I., 3121W, 3166F Toung, J., 544W Toung, J. M., 370 Touraine, R., 84, 127 Tournaire, M., 936T, 3121W, 3166F Tournev, I., 201, 2948T Tournier, I., 32*, 1222T Toussaint, W., 2225F Toutain, A., 403 Toutain, J., 473F Touvana, E., 3017T Tovar, A. R., 526W Towne, B., 2146T* Towne, C., 1729W, 3680W Townsend, A., 1840F, 1846W Toy, T., 315 Toyama, Y., 2287T Toyoada, A., 2835F Toyoda, C., 2559W Toyoda, H., 2496W Tozer, E., 3698W Trabetti, E., 2548T, 2659T Trabzuni, D., 374, 564W Trachtenberg, E., 1589T Tracy, K. L., 1856F Tracy, R. P., 170, 1408F Traeger-Synodinos, J., 2995T Tragante, V., 1606T Tragante do O., V., 1659T* Trager, E., 2135F Trainer, A. H., 1224W Tran, A. N., 1126T Tran, B., 135 Tran, C. K., 1691T Tran, K., 532W Tran, N., 2262W, 2320T, 2343W, 2661W Tran, N. H., 1998W, 1999T Tran, P., 3694W Tran, T., 688T Tranah, G. J., 2375F Tran Mau-Them, F., 3166F Tran-Viet, K., 2328W, 3521T Traupe, H., 2160W, 2869W Trautmann, U., 2356T Travaglini, L., 943W, 2777T Traylor, M., 1313W* Traynor, B. J., 2611T, 2648F Treacy, R., 1257W Treadwell, M., 145, 1810F Trebušak Podkrajšek, K., 2688F, 2710W* Trecroci, F., 2597F* Trede, N., 365 Treff, N., 2968T Treff, N. R., 2999T* Tregidgo, C., 3694W Treherne, A., 766W* Treloar, S. A., 2056T, 2133W Trembath, R. C., 154, 1927T, 2804T, 2896W, 2925F Trembath, R. T., 780W Trenkwalder, C., 2568W Trent, J. M., 1186T, 1240T Treskes, M., 2205W Tretli, S., 991T Trevisan, C. P., 1776W Triche, E., 76 Trifiro, M., 398 Triggs-Raine, B., 2772F Trimble, V., 2283W Trindade-Filho, A., 3261T Trinh, C., 532W Trinh, J., 346, 2537F* Trinh, Q., 1093T Trinh, X. M., 1998W Trinidad, S. B., 1828F Trip, M. D., 1604T Tripodis, Y., 2488T Tristán, A., 2578T Trivellin, G., 2708T Troakes, C., 3471T, 3476T Troge, J., 2587T Trojanowski, J., 2538W Tromp, G., 1447F Trompet, S., 109 Troncoso, J. C., 2648F Trost, J., 1021T Trost, M., 1545T*, 3664W Trost, M. K., 276 Troup, C., 3690W Troyanskaya, O. G., 1501F Troyer, D., 2717T Trubetskoy, V. V., 1495F* Trucco, G., 993W Truitt, B., 1295W, 2020T Trujillano, D., 2303F, 2593T* Trujillo, A. M., 3499T Trujillo, C., 222 Trujillo, I., 3504T* Trump, D. L., 3428T Tryka, K. A., 1566T Trynka, G., 155, 461F, 1330F, 1907F, 2088W TSA Consortium for Genetics, The International OCD Foundation Genetics Collaborative, 3540W Tsafantakis, E., 2044T, 3396T Tsai, A., 905W* Tsai, A. C.-H., 432W, 898T Tsai, E. A.-L., 2316W* Tsai, H., 2571W, 3026T* Tsai, M., 2606F, 3376F* Tsai, P., 511F Tsai, P.-T., 1955F Tsai, Y., 989F Tsai, Y. Y., 1156T TSAICG, 1480F TSAICG, IOCFGC, TS GWAS Consortium, 2519F Tsakok, T., 2138F Tsalamlal, A., 29 Tsalenko, A., 3588W* Tsaliki, E., 3017T Tsan, M., 3697F Tsang, K. M., 2421W* Tsang, M., 3238F* Tsang, P., 975W Tsang, S. H., Session 78, 393 Tsao, B. P., 1979F, 2046W Tsao, D., 3522T Tsao, J. W., 2702T Tsao, M.-S., 1108T Tsaprouni, L., 583F, 3453T TSB LifeTech Consortium, 133 Tsernikova, N., 1308T, 2076W Tsetskhladze, Z., 309* Tsilidis, K. K., 109, 1390F Tsimiklis, H., 1213T Tsironi, E. E., 385, 1305T Tsitlaidou, M., 1228T t Slot, R., 400 Tso, S.-C., 2742F Tsoi, L. C., 154*, 1952F Tsongalis, G., 3465T Tsoutsman, T., 1664T Tsuda, K., 548W, 558W Tsui, E., 1034F Tsuji, S., 52, 233, 2349W, 2409W, 2569T Tsukahara, M., 2758W Tsukahara, S., 1980W Tsukikawa, M., 534W, 2943F Tsuneda, S. S., 2876T Tsunemi, T., 565F*, 2456F Tsung, E., 3670W Tsunoda, T., 396, 1552F, 1631T, 1643T, 2004W, 2051F, 2071T, 2174F, 3565F Tsuruda, L., 763W, 784W Tsurusaki, Y., 2822T, 2878W Tsz-Wai Pang, R., 2796F Tu, W., 1969T Tucker, M., 1012T, 1160F, 1517W Tucker, M. A., 30, 1010F, 1218W Tufano, J. T., 1828F Tuff, J. F., 490W* Tufik, S., 2592W Tuggle, C. K., 2717T Tukiainen, T., 656T, 2173T* Tully, R., 3582W, 3625F Tully, R. E., 3732W Tumini, S., 2777T Tumino, R., 1712T Tunca, Y., 590W Tuncer, F. N., 2396F*, 2412W Tung, J., 1514W Tung, J. Y., 106, 114, 626T, 1017W, 1782W, 1838F*, 2089T, 2100W, 2111F, 2115W, 2127W, 2149T Tuomilehto, J., 1608T Tupler, R., 1776W Turbon, D., 3364F Turbón, D., 3402T Turecek, F., 727F Turecki, G., 2338T, 2482T, 3470T Turk, W., 3276T Turnbull, C., 213 Turner, A., 1645T*, 1774W Turner, B., 3528W Turner, C., 2935W Turner, C. L. S., 217 Turner, E., 10, 2740W Turner, E. H., 170 Turner, I., 3279T Turner, I. H. C., 472W* Turner, K., 935W Turner, S., 3228F Turner, T., 13* Turnherr, S., 415F Turnpenny, P., 2935W Tursi, R. M., 2572T Turunen, U., 2023T Tuschl, K., 167* Tusie-Luna, T., 2256W Tuulio-Henriksson, A., 252 Tüysüz, B., 3132F* Tuzov, N., 1562W* Tuzovic, L., 3046F* Tweddale, B., 2785W, 2892F, 2904F Twigg, S. R., 219 Twigg, S. R. F., 218*, 2746W Tybjærg-Hansen, A., Session 21 Tylavsky, F. A., 3480T Tyler, R. C., 2903T Tyler, S., 490W Tyler-Smith, C., 41, 3322F, 3377W Tymrakiewicz, M., 205, 1011W Tynan, J., 2973T, 3023T Tyndale, R. F., 642T Tynninen, O., 1253F Tyrer, J., 210 Tyrrell, J., 2148W Tyynismaa, H., 327 Tzadok, M., 660T Tzeng, J., 1538W* Tzeng, J. Y., 1350T Tzetis, M., 2995T Tziotzios, C., 33 Tzoulis, C., 2451W U U., L., 3395W, 3397W Uda, M., 110, 113, 847F, 2001W Udagawa, Y., 475F Udar, N., 1176W, 1963T, 3686W* Udd, B., 2945T Uddin, M., 435F, 448W, 454W* Udelsman, R., 1241F Udpa, N., 1471F*, 3307F Uebe, S., 2160W, 2557T Uebelhoer, M., 1611T* Ueffing, M., 86 Uehara, D. T., 891W, 914T SPEAKER AND AUTHOR INDEX *Presenting Author

412 410 SPEAKER AND AUTHOR INDEX Uehara, N., 2873T Ueki, M., 1549F Ueno, M., 2129F Ueno, Y., 1549F Ugolini, D., 1153T Ugur Iseri, S. A., 2396F, 2412W Uher, R., 2509T Uhl, G., 2541W* Uhlhaas, S., 1005W Uhlmann, W. R., 317 Uhrich, S., 668T Uicab-Pool, G., 2272T Uitterlinden, A., 2366F, 3608W Uitterlinden, A. G., 87, 109, 431F, 584W, 1284T, 1334W, 1503T, 1659T, 2053T, 2081F, 2105F, 2141F, 2165F, 2169W UK10K, 809F UK10K, UKIBDGC, 354 UK10K Cohorts Goup, 1411F UK10K Consortium, 45, 216, 1518T, 2812W UK10K Consortium Cohorts Group, 1522F, 3645F UK10K Statistics Group, 2304W UK Brain Expression Consortium, 374 UK Genetics Prostate Cancer Study Collaborators, PRACTICAL Consortium, 1011W Ukkola-Vuoti, L., 2181W UK PBC Consortium and Wellcome Trust Case Control Consortium 3, 153 Ukraintseva, S., 2027F*, 2194T Ulivi, S., 1484W, 2128T Ullmann, R., 2732T Ullmer, B., 3270T Ulloa, R., 57 Ullrich, N., 3177W Ulmer, M., 386*, 2135F Ulz, P., 1115F Um, S., 1591T Umana, L. A., 1646T* Umar, M., 1137W* Umbach, D. M., 1416T Umbarger, M., 1729W, 3680W Umbarger, M. A., 3640W, 3693F* Umekage, T., 2370W Umeno, J., 2174F Umesh, A., 1190F Umicevic Mirkov, M., 621T* Underhill, H. R., 2530T* Underhill, P., 3321T Underhill, P. A., 186, 3368W Undlien, D. E., 3510T, 3614W Unger, S., 129, 3075W Unique Rare Chromosome Support, 66 United Kingdom and Ireland Renal Transplant Consortium, the Wellcome Trust Case-Control Consortium 3, 2082W Uno, S., 2133W Unutmaz, D., 713F Upadhyay, R., 1137W Uppal, S. S., 2267F Upsall, E., 3695F Upton, S., 3176F Urano, F., 2472W Urano, W., 2032T Urban, A., 551F, 579F, 2372F Urban, A. E., 334*, 369, 425F, 3658W Urban, Z., 129, 820F*, 2761W Urbanek, M., 2327F Urdal, P., 643T Urnov, F. D., 255, 803W Uro-Coste, E., 2945T Urquhart, J., 2852T Urraca, N., 3119W* Urru, M., 113, 177 Urru, M. F., 1451W, 1516F Ursini, M. V., 505F, 2629T Urtatiz, O., 3225W* Usala, G., 2001W Useche, F., 3459T Usher-Ridge, B., 1785W Utami, K. H., 3047W* Utiramerur, S., 1232F, 3670W Utsumi, Y., 663F Utz, J., 1855F* Uwineza, A., 3104F* Uyama, E., 2409W Uyar Bozkurt, S., 2429F Uyenoyama, M., 3392T* Uyguner, O., 1 Uysal, H., 2924T Uzumcu, A., 1 Uzun, A., 76*, 3024T V Vaags, A., 2525F Vaags, A. K., 2575T, 3086F Vaccargiu, S., 2128T Vaccarino, F., 334 Vaché, C., 2947W Vachin, P., 72 Vachon, C., 1150T Vacic, V., 3346F Vadapalli, A., 971W* Vadasz, E., 2414F, 2654F Vadlamudi, S., 1627T, 2012F Værum, M., 3641F, 3662W Vago, P., 894T Vaidla, K., 1140W Vaidya, D., 1652T, 1710T* Vaidya, S., 1234T* Vaidyanathan, R., 585F*, 3718W Vainzof, M., 1727W Vairo, F., 696T* Vairo, F. P., 1217F Vaitsiakhovich, T., 1332T Vakil, H., 130 Valabregue, R., 2539T Valdes, A., 2292W Valdes, A. M., 2171F, 2341T* Valdés-Mas, R., 2578T Valente, A. L., 1002W* Valente, E. M., 943W, 2777T Valentini, M., 157, 1516F Valenzano, K. J., 732T Valenzuela, I., 2930T, 3208F Väliaho, J., 496W Valladares, O., 342, 2316W Vallance, H., 750T Vallant, E., 3116F Vallat, J. M., 328 Valle, A. C., 2655W Valle, D., Session 28, Session 74, 227, 520W, 2387F, 2461T, 2486F, 2566T, 2573F, 3131W Vallender, E., 595F Valles-Ayoub, Y., 682T Vallier, L., 3507T Valsesia, A., 84 Valverde, K., 1781W van Aalst, J., 2756T Vanakker, O., 128, 129, 423F Vanakker, O. M., 833F, 1790W, 3137W* van Amstel, J. K. P., 2886F* van Asperen, C. J., 27 Vanasse, M., 2900T van Attikum, H., 27 Van Baaren, J. M., 588W van Beek, R., 955W, 979W van Beelen, E., 58 van Bers, M., 58 van Beusekom, E., 214 van Bever, Y., 980T Van Binsbergen, E., 423F van Bokhoven, H., 100, 102, 125, 160, 214, 2863W van Bon, B. W. M., 97, 100, 103, 124, 125 Van Booven, D., 9, 3706W Van Broeckhoven, C., 2815W van Buggenhout, G., 925W Van Camp, G., 59, 2104T Van Cauwenbergh, C., 539F Vance, D. D., 2185T* Vance, J., 492W, 2603F*, 2668W, 2755W Vance, J. M., 270, 347, 588W, 1871F, 2185T, 2330F, 2470T van Dam, R., 2358W Van Dam, R., 2165F Van Damme, P., 201, 2948T Van Damme, T., 129 van de Bunt, M., 2324F Van de Heyning, P. H., 2104T van de Kamp, J., 98 van de Laar, M. A. F., 621T van den Akker, E. B., 1436W* van den Akker, W. M., 160 Van den Berg, L. H., 431F Vandenberg, M., 2805F van den Berg, M. P., 1619T van den Bergen, J. C., 574W van den Boogaard, M. J., 2886F van den Boom, D., 2973T, 3014T, 3016T, 3023T van den Bosch, B., 708T van den Bree, M. B., 2405F van den Broek, S., 1117T Van Den Eeden, S., 96 van den Eijnde, R., 574W van den Elzen, C., 214 van den Ende, J., 3193W* van den Heuvel, L., 2909T van den Linden, H., 2642F van den Oord, E. J. C. G., 3442T, 3452T Van den Veyver, I. B., 2802F, 3495T Van den Wijngaard, A., 1711T, 3650W Van der Aa, N., 127, 423F, 2527T, 2757F, 3193W van der Brug, M., 1539T van der Burgt, I., 215 van der Harst, P., 110, 383, 609T, 1659T, 2175W van der Heyden, M. A. G., 217 Vander Horn, P., 3698W van de Rijn, M., 1054T van der Klauw, M. M., 2282F van der Laan, M., 1415W van der Maarel, S., 2840T* van der Maarel, S. M., 55, 542W Van der Merwe, L., 3385F van der Merwe, L., 2007W, 2217W van der Most, P. J., 2282F van der Schouw, Y. T., 1659T van der Smagt, J. J., 217 van der Stoep, N., 3650W* van der Valk, R. J. P., 2168F* van der Veken, L. T., 3164F* van der Velde-Visser, S., 160 Vanderver, A., 2452T, 2786T*, 2797W van der Vleuten, C. J., 83 van der Vliet, P. J., 55 van der Voorn, 3200F van der Zee, J., 2815W* van der Zwaag, B., 2848W, 3650W van der Zwan, Y., 1122W van de Vondervoort, I., 100, 160 van de Warrenburg, B. P., 160 van de Warrenburg, B. P. C., 1734W Vandeweyer, G., 1617T van de Zwan, Y., 1273T van Diemen, C. C., 1330F Van Dijck, P., 2948T *Presenting Author

413 SPEAKER AND AUTHOR INDEX 411 van Dijk, F., 459F Van Driest, S. L., 247*, 631T Vandrovcova, J., 1618T* van Duijn, C., Session 27, 1592T, 2080T, 2107T van Duijn, C. M., 2175W, 2193W, 2366F van Eerde, A. M., 2848W Van Eijk, K. R., 431F, 2553W*, 3474T van Engelen, B., 2840T VanErp, T., 2564F van Erp, T. G. M., 2469W* Van Essen, T., 127 Van Eyk, J., 80 Vangapandu, V., 2979T van Gassen, K. L. I., 1220F van Gessel, S., 979W van Gessel, S. L. J., 955W Van Ghelue, M., 2965W* van Gilst, W. H., 609T, 2175W Vangipuram, M., 803W Van Goor, F., 1731W van Haaften, G., 217*, 2886F van Haelst, M. M., 217, 2886F van Haren, N. E. M., 2526W van Harssel, J. J. T., 217 van Hasselt, P., 672T van Heel, D., 155 van Heel, D. A., 1330F van Helden, P., 2003F van Helden, P. D., 2007W van Heumen, C., 3159W Van Hirtum-Das, M., 1721W van Hooft, P., 3316F Van Hout, C. V., 3269W* Vanhoutte, L., 2225F Vanhove, C., 2225F Van Hove, J. L., 2884W Van Hul, E., 2757F van Iperen, E. P. A., 1604T*, 1606T Vanita, V., 1342F, 1890W, 1891T, 2726T, 2730F, 2735T, 2737W Van Itallie, C. M., 2663T van Karnebeek, C., 750T, 756W* van Klinken, J., 2107T van Kogelenberg, M., 101, 291, 364* van Koningsbruggen, S., 681F* Van Laarhoven, P., 819F* Van Laer, L., 79, 80, 1617T* Van Laere, K., 2527T Van Langenhove, T., 2815W van Lieshout, S., 217, 400, 2886F VanLoy, C., 1237T Van Luchene, R., 3007T Van Maldergem, L., 129, 3165W*, 3199W van Marrewijk, C. J., 243 van Meurs, J. B. J., 584W, 1284T, 1334W, 1503T Vannier, A., 2877F, 2937F Van Oers, N., 2949F van Ommen, G., 582W van Ommen, G. J., 567F van Rahden, V., 2810T Van Ravenswaaij, C., 65, 124 van Reeuwijk, J., 214 van Riel, P. C. L., 621T van Rooij, F. J. A., 111, 2073W van Rooij, J., 3608W van Slegtenhorst, M., 3650W van Spaendonck-Zwarts, K. Y., 1619T, 2909T van t Hof, F. N. G., 87* Van Til, N., 796W van Tintelen, J. P., 1619T, 2909T van Trotsenburg, A. S. P., 2701W van Tuil, M., 2886F van Vliet-Ostaptchouk, J., 2282F* Vanwijck, R., 2002T van Wyk, C., 1794W van Zutven, L. J. C. M., 980T van Zuydam, N. R., 609T van Zwet, E. W., 1436W van Zyl, S., 1085F Varadan, V., 3316F Vardarajan, B., 343, 1476T* Vardarajan, B. N., 2563T Varga, R. E., 2930T Vargas, E., 3290W Vargas, F. R., 2642F Vargas, G., 1119W Varilo, T., 252, 897W Varley, K. E., 1245W, 3527F, 3687F Varma, R., 2153F Varner, M., 1904F Varret, M., 1607T* Varvil, T., 2397W Vasan, R. S., 1677T, 2080T Vaschalde, Y., 345 Vasco, D. A., 3326W* Vasconcellos, J. F., 2655W Vasconcellos, J. P. C., 2286W, 2291F Vasenkova, I. A., 1245W, 3687F* Vasey, S., 630T Vasishta, R., 802W Vasli, N., 2681T Vasquez, L., 2974T Vasseur, C., 1768W* Vassilev, L., 242 Vasta, V., 688T Vasudevan, R., 1083W Vatanavicharn, N., 712T Vats, S., 1703T* Vatta, M., 314, 1735W, 1742W, 1761W Vattathil, S., 1041W, 1258T* Vaughan, B., 3636W Vaughan, T. L., 2190W Vaughn, C. B., 1086W* Vaula, G., 550W Vaur, D., 32 Vawter, M. P., 2459F, 2469W, 2564F, 3587F Vaysse, A., 1158W, 2079W, 2248T Vaz, F., 672T Vazquez, A. I., 2201F Vear, S., 247 Veatch, O. J., 15* Veble, A., 3001T Vecchio-Pagán, B., 1450F Vece, T. J., 2883F Vedantam, S., 108, 2090F, 2241W Vedes, J., 1977W Vedrenne, V., 329* Veenma, D., 834F Veeramah, K. R., 2788W*, 3354T Vega, J. N., 2401T* Veillet, J., 54 Vekemans, M., 77, 403, 915W, 3172F, 3240F Velagaleti, G., 868T* Velasco, H., 703F*, 3069W, 3190F Velazquez-Hernandez, N., 1121F Velázquez-Pérez, L., 3124F Velders, F., 2164T Veldink, J. H., 431F Veleri, S., 824F*, 827F Velez Edwards, D. R., 2131T, 3299W Velez-Ruiz, G., 2470T Velissariou, V., 3017T Velsher, L., 320, 1872F, 1873F Veltman, I., 216 Veltman, J., Session 73 Veltman, J. A., 58, 97, 100, 102, 160, 214, 672T, 1749W Venâncio, M., 3019T Venceslá, A., 987W Venditti, C. P., 664T, 669F, 674T, 721F, 738T, 2683W Venegas, A., 951W, 3074F Venegas, V., 1251W, 3648W Venema, A., 542W Venkat, A., 285 Venkatesan, S., 1456F Venkateswara Rao, A., 224 Venn, O., 285, 3279T* Vennemann, M., 86 Venselaar, H., 215, 217 Venter, P. A., 1085F Ventura, A., Session 76 Ventura, M., 74, 94 Venturini, C., 335, 2068T Vepsäläinen, S., 2348F Vera, M., 697F*, 734T Verbeek, A. L. M., 243 VerBerkmoes, N., 2826F Verbitsky, M., 845F Vercelli, L., 1776W Verchere, C., 3006T Verdin, H., 2832F, 2927T* Verdu, P., 3351T Vergara, C., 1900T Vergara, C. I., 2043W* Vergin, C., 2719W Vergult, S., 98, 423F* Verheijen, F. W., 405 Verhoeven, A., 2107T Verioes, A., 2887W Verkarre, V., 1212W Verloes, A., 124*, 127, 218, 901W Verma, A., 1316W Verma, I. C., 1720W, 1877F, 2754F, 3236F Verma, J., 1720W Verma, S., 440W Vermaas, E., 3694W Vermaat, M., 3586W, 3611F Vermeer, S., 160, 1734W Vermeesch, J., 894T Vermeire, S., 2319W Vermeulen, S. H., 87, 106, 243, 621T Vernalis, M. N., 1649T Vernet, G., 2255F Vernon, H., 2915T Vernon-Smith, A., 109 Vernot, B., 283 Verrow, S., 3654W Verschuuren, J. J. G. M., 574W Verstuyft, C., 609T Verwaijen, P., 681F Verweij, N., 110 Verwer, L., 98 Vesa, J., 3144F Vestbo, J., 2249F Vester, A., 2470T Vetrini, F., 735F Vezain, M., 32 Vézina, H., 1478W Vial, C., 1658T, 2065T* Vialard, F., 890T* Viale, A., 998F, 1159T Viali, S., 2159F Viana, J., 3476T Viana, M. M., 3107W, 3110F* Vianna, G. S., 2434T Vianna-Morgante, A. M., 874T, 882T, 2863W, 3250F Viatte, S., 2231F Vicari, S., 84, 3087W Vicente, A. M., 1968W, 2017T, 2261F, 2417F, 2502W Vidal, H., 2278T Vidal, M., 2660F Vidal, R., 394, 1207T, 1215W* Vidal, V., 1204T Vieira, A. R., 1315F, 1936T Vieira, F., 3312T Vieira, F. G., 3289F* Vieira, M. L., 2288F Vieira, T., 1851F*, 1865F* Vieira, T. P., 959W Vieland, V. J., 2181W, 2467T, 2523W* Vierkant, R. A., 3451T Vigeland, M., 1547W* Vigneron, J., 2770W SPEAKER AND AUTHOR INDEX *Presenting Author

414 412 SPEAKER AND AUTHOR INDEX Vigouroux, A., 2957T Vigueras, R. M., 2365T Vihinen, M., 496W*, 992F, 3610W Vihola, A., 2945T Viikari, J., 2097W, 2120F Viikari-Juntura, E., 2120F Vijai, J., 208, 1841W Vijayalakshmy, J., 911W Vijayarangakannan, P., 291, 455F* Vijzelaar, R., 652T Vikkula, M., 83, 1015T, 1611T, 2002T, 3156F Vikman, P., 47 Vikram, N., 555F Vila, L. M., 1979F Vilain, E., 315, 361, 950T Vilar, M., 3373F Vilar, M. G., 3329W, 3377W Vilarino-Guell, C., 346*, 2537F Vilboux, T., 3080F* Vilhelmsen, K., 363 Vilhjalmsson, B., 350, 1331W*, 1360F, 2199W, 2210F Villa, E. C., 2495F Villamarin, R., 3625F Villamarin-Salomon, R., 3582W Villani, A. C., 528W Villanueva, C., 2845W Villanueva Dávalos, V., 2033F Villar, J., 2296T Villar, V., 245 Villard, L., 2457W, 2536T, 3165W Villarreal-Quiroga, P., 1030T Villarroel, C., 875W, 976T Ville, D., 2536T Ville, Y., 72, 77, 403 Villela, D., 919W* Villems, R., 3286F Vilo, J., 1163F Vilske, S., 1006T Vimaleswaran, K. S., 271* Viñas, M., 2940F Vinasco, T., 3069W* Vincent, J., 2525F Vincent, J. B., 2398T, 2570F*, 2575T Vincent, M., 1267T, 3121W* Vincent, Q., 1361W Vincenzi, O. C., 1037F, 1038W* Vinci, M., 3114F Vinckenbosch, N., 3311W Vineis, P., 1712T Vinette, K. M., 2855T Vink, C., 3159W Vinkler, C., 3048F*, 3162F, 3174F Vinod, B., 2113T Vinson, A., 2218T* Vinther-Jensen, T., 2765T Viñuela, A., 546W Viola, M., 2811F Viqaruddin, M., 3149W Virani, S., 1688T Virdis, F., 1516F Virmond, M. L. C., 2289W Virmouni, S., 761W Virtamo, J., 1012T, 1091F Visakorpi, T., 1000T Viscardi, R. M., 3027T Viscidi, R. P., 2561F Visel, A., 4, 254, 407 Vishwabandya, A., 931W Visitacion, M., 3669F Visitacion, M. R., 3709F* Viskochil, D., 3177W Visscher, P., 1360F, 2090F, 2200T Visscher, P. M., 108, 351, 1331W, 2366F Visser, G., 681F Visser, J., 2165F Vissers, L. E. L. M., 97, 100, 102, 160, 214, 215, 672T, 1749W, 2925F Vista, E. S., 529F, 2188T Viswanathan, A. C., 2068T Viswanathan, K., 1901F Vitale, C., 1985F Vitale, E., 1985F*, 3492T Vitart, V., 1383T, 1481W Vite, C. H., 785W Vitello, A., 100 Vitiello, G., 943W Vittori, A., 2641T* Vivekandandan, S., 3316F Vives, L., 10, 278 Vlasschaert, M., 460W Vlassov, A. V., 3723F Vlummens, P., 129 Vnencak-Jones, C. L., 136 Vo, D., 585F, 893W Vockler, J. S., 3558W Vockley, J., 657F*, 662T, 733F Voegele, C., 1213T Voelkerding, K. V., 2720T, 2951T, 3638W, 3643F Voest, E., 400 Vogel, I., 3148F Vogel, J., 506W Vogel, K. J., 1225T Vogel, M., 3650W Vogel, S. N., 3027T Vogel, T. W., 404 Vogel, W., 1080W Voglino, F., 1153T, 1712T Vogt, G., 3599F Vogt, J., 939W, 2791W* Vogt, S., 1005W, 3109W Voight, B. F., Session 21 Voinea, S., 1439W, 3678W Voineagu, I., 553F Voit, T., 2812W Volar, M., 1093T Volders, P. G. A., 1711T Völker, U., 275 Völker-Albert, M. C., 27 Vollenweider, P., 1281T, 2165F Vollrath, D., 2154W, 2240F, 2263T Volpi, E., 509F Volpini, V., 2627F* Volta, M., 3471T Völzke, H., 584W, 1954T, 2123F, 2147F Von Allmen, G., 2395T von Dadelszen, P., 3429T, 3445T Vondracek, P., 2812W VonHoldt, B., 2219F von Kleist-Retzow, J. C., 2944W Von Kuster, G., 3545F Vonsattel, J. P., 2547W Vooder, T., 1163F Voorhees, J. J., 154, 1952F Voorhoeve, E., 98* Voorman, A., 174 Vorgia, E., 218 Vorstman, J. A. S., 431F Vos, Y. J., 1619T* Võsa, U., 1163F Vosatka, A., 2220W Voshol, P., 2701W Voss, K., 383 Vrabec, K., 3381T Vranas, M., 2699T Vreeswijk, M. P. G., 27 Vrettou, C., 2995T Vrielynck, P., 3218F Vriend, G., 217 Vrieze, S., 1568W Vrijenhoek, T., 1870F* Vrints, C., 1617T Vu, A., 1147T Vu, B. J., 803W Vu, T., 14, 1716W Vuillaume, M. L., 473F Vuillemenot, B., 784W* Vuillot, A., 126 Vulto-van Silfhout, A. T., 97, 100, 125*, 160 Vyhlidal, C., 811F Vyse, T. J., 306, 2005T, 2046W, 3382F W Wachihi, C., 3276T Wacholder, S., 1413T Wacklin, P., 2023T Wada, T., 2836W* Waddell, L. B., 295 Wade, K. H., 1626T* Wadelius, C., 617T, 619T Wadelius, M., 617T, 619T Waeber, G., 1281T Waetjen, L. E., 2360F Wafa, A., 1922F Waffern, F., 3076F Wagemaker, G., 796W Wagenknecht, L. E., 1661T, 2275T Waggoner, D. J., 3398T Wagman, C., 2007W Wagner, E., 1098W*, 1969T Wagner, J., 1850W* Wagner, J. K., 2223W Wagner, K., 3116F Wagner, K. R., 2962W Wagner, M., 2143T Wagner, P., 638T Wahl, C., 2965W Wahlberg, P., 3427T* Wahlfors, T., 995F, 1000T, 1302T Wahlgren, C. F., 1939T Wahren-Herlenius, M., 2084F Waide, E. H., 2717T Wain, K. E., 1058F Wainstein, T., 1794W* Waisfisz, Q., 3200F, 3650W Waite, L., 434W, 1608T, 3443T Wakabayashi, Y., 586W* Wakahiro, M., 196, 2389T Wakamatsu, N., 2748F Wakefield, D. B., 3449T Wakefield, J., 294 Wakefield, S., 658T Wakelam, M. J. O., 33 Wakeland, B., 1901F, 2949F Wakeland, E., 2284T*, 2949F Wakeland, E. K., 1901F Walcott, F., 1064F Walczak, A., 597F Waldan, I., 1498F Waldek, S., 772W Waldispuehl-Geigl, J., 1115F Waldman, I. D., 2515T* Wali, N., 37 Walia, A., 3370F Walia, A. T., 3329W Walia, G. K., 3455T Walker, C., 940T*, 3479T Walker, D., 2516F Walker, D. L., 605T Walker, H., 953W Walker, J. A., 3270T Walker, M., 1624T, 2116T, 3455T Walker, N., 453F Walker, R., 374, 564W Walker, S., 175*, 2575T, 2617T, 2620T Wall, J., 285 Wall, J. D., 3354T Wall, S. A., 218, 2151W Wallace, A., 2054F Wallace, D., Session 56 Wallace, D. C., 3653F Wallace, J., 1667T, 3542W Wallace, J. R., 3624W Wallace, M., 1261T Wallace, P. K., 3523T Wallace, R., 2020T Wallaschofski, H., 275, 2080T Wallenhorst, E., 953W Wallentin, L., 617T, 619T Waller, K., 1736W Walley, K. R., 1632T Wallum, H., 2509T Walrafen, P., 3522T Walsh, C. A., 8, 266, 452W, 2613W Walsh, D., 2500T, 2504F, 2594F, 2599T *Presenting Author

415 SPEAKER AND AUTHOR INDEX 413 Walsh, J., 1216T Walsh, M., 889W Walsh, T., 26, 263, 287, 1089W, 1226F*, 1228T, 2600F, 2756T, 2929W Walston, J., 1920W Walter, K., 61, 1518T Walter, L., 96, 112, 118, 230, 620T, 2513F Walter, M., 236, 575F, 1200W Walter, M. A., 1951T Walter, M. C., 2961F Walter, P. J., 1398T* Walters, K. A., 2523W Walters, L., 456W* Walters, N., 506W Walters, R., 1067F Walther, D., 2541W Walther, S., 140 Walton, K., 32 Walz, K., 794W, 2672T, 2837T* Wambebe, C., 3303T, 3338W Wan, E., 2057F, 2249F Wan, J., 2511W Wan, W., 3495T Wanamaker, S. A., 2660F Wand, G. S., 2391W Wanderley, H. Y., 2642F Wang, A., 3213W Wang, B., 462W, 519F, 616T, 2203T, 3620W Wang, B.-J., 3029T Wang, C., 398, 864T, 1010F, 1112F, 1170W, 1218W Wang, C. C., 3379F Wang, D., 1591T, 2221T, 2251T, 3428T, 3485T* Wang, D. Y., 1887W Wang, E., Session 24 Wang, E., 2978T Wang, F., 457F, 1779W*, 1974W, 1997F, 2252F, 2623T, 2721F, 2910F, 3684W Wang, G., 19, 93, 1369F, 1554T*, 2028W, 2318F, 2337W, 3026T Wang, G. L., 1974W Wang, G.-L., 457F Wang, G. T., 2336F Wang, H., 255, 458W*, 511F, 1472W, 1779W, 1905W, 2910F, 2921T Wang, H. M., 2245T* Wang, I., 544W* Wang, I. X., 370 Wang, J., 159, 462W, 480W, 503F, 683F*, 962T*, 1235F, 1369F, 1578T*, 1650T, 1685T*, 1750W, 2184W, 2311T, 2317T, 2347T, 2390F, 2452T, 2582F, 2617T, 3168F, 3237W*, 3300T, 3311W, 3334F, 3428T, 3561F Wang, J. C., 3416T Wang, J.-H., 457F*, 2623T Wang, J. H., 1974W Wang, J. J., 2094W Wang, J. M., 462W Wang, K., 1889F, 2872W, 3415T, 3532W, 3561F, 3660W Wang, L., 116, 123, 347, 492W*, 603T, 1010F, 1218W, 1247F, 1291F, 1635T, 1638T, 1974W, 2185T, 2259W, 2583W, 2603F Wang, L. L., 1034F Wang, L.-S., 342*, 343, 2316W Wang, L. S., 1571W Wang, M., 314, 1292W, 1735W, 1742W, 1757W, 1761W, 2331W, 2617T, 2880F, 2934F, 3308W* Wang, M. H., 1466W* Wang, M. Q., 1910F Wang, M.-S., 457F Wang, P., 1499W* Wang, P. H., 3730W Wang, Q., 206, 308, 2114F, 2170T, 2494T, 3000T*, 3582W, 3620W Wang, R., 1359T, 2461T, 2486F, 2573F, 2895F Wang, S., 549F*, 566W, 1417F, 1666T, 2388W, 2390F, 2574W*, 3358F Wang, S.-N., 3029T Wang, S. R., 1960T* Wang, T., 889W, 1333F, 1494T, 1608T, 2566T, 2661W, 2806W*, 3016T, 3097W, 3474T Wang, W., 319, 1555F, 2229W, 3561F, 3589F*, 3691F Wang, X., 207, 257*, 909W, 1219T, 1367W*, 1418W*, 1460W, 1464T, 1474F, 1672T, 1673T, 1774W*, 2034W, 2099F, 2125T, 2142W, 2156F*, 2158T, 2178W, 2189F, 2521T, 2802F, 2834T, 2880F, 2921T, 3026T, 3078F, 3418T, 3486T*, 3619F*, 3652W Wang, X. B., 1647T* Wang, X. T., 3416T Wang, X.-W., 457F, 2623T Wang, Y., 133, 507F, 511F*, 657F, 864T*, 1004F, 1146W, 1291F, 1986W, 2279F, 2280W, 2357F*, 2511W, 2617T, 2721F, 3029T, 3081W*, 3311W, 3317W, 3355F, 3493T Wang, Y.-H., 2824W Wang, Y. P., 2053T Wang, Y. S., 972T*, 1586T Wang, Z., 213, 245, 519F*, 616T, 1010F, 1088F, 1160F*, 1259F*, 1420F*, 2587T, 2819T, 3657F* Wang, Z.-G., 457F Wang, Z. G., 2985T* Wang-Sattler, R., 2226W, 2548T Waqar, F., 1673T Warburton, D., 957W, 1600T* Warby, S., 2543F* Ward, E., 3113W Ward, L., 1216T Ward, L. D., 3291T* Ward, M., 3625F Ward, M. H., 3582W Ward, P., 1742W Ward, P. A., 1735W, 1761W Ward-Caviness, C. K., 1636T* Ware, R. E., 648T, 2331W Ware, S., 1674T, 2698W Wareham, N. J., 43, 1553W, 1626T, 1686T, 2282F, 2359T Warman Chardon, J., 198* Warner, A., 249 Warner, J., 549F Warner, N., 1320T Warnich, L., 644T Warnke, A., 1976F Warraich, S., 2816T Warram, J. H., 2313W Warren, L., 1686T Warren, P., 2904F Warren, R., 2217W Warren, R. L., 375 Warren, S., 540W, 2464T Warren, S. T., 2576F Warren, W., 2262W, 2320T*, 2343W Warrington, N., 2164T Warrington, N. M., 2162F Wary, C., 2539T Washington, A. V., 3315T Wassel, C. L., 170, 1661T Wasserscheid, J., 2262W Wasserstein, M. P., 958T Wassif, C. A., 162* Wassink, T., 2493W Wassink, T. H., 422W* Wasson, K., 1822F* Waszak, S., 415F, 551F Wat, J. J., 834F Wat, M., 839F Wat, M. J., 834F Watanabe, A., 1697T*, 2400W Watanabe, H., 3221W Watanabe, R., 1362T Watanabe, R. M., 46 Watanabe, Y., 724T*, 842F*, 2727F Watanabe-Makino, K., 396 Waterham, H. R., 681F Waters, A., 199 Waters, C., 442W Waters, J. P., 2312F Waters, W., 978T Waterworth, D., 1686T* Waterworth, D. M., 649T Watkins, D., 673F, 705F, 706T, 719F Watkins, H., 115 Watkins, J. C., 3389W Watkins, L., 3644W* Watkins, W. S., 195, 600F, 3378T Watman, N., 773W Watrin, E., 2958F Watrin, F., 2457W Watson, C. T., 375 Watson, H., 2043W Watson, M., 3530W Watson, R., 83 Watson, S. J., 2163W Watt, G., 1626T Watt, J., 967W Watt, S., 135 Wattanasirichaigoon, D., 2755W, 2918T Watts, A. C., 287, 2600F* Watts, G. J., 3213W Watts, G. S., 3712W* Waubant, E., 1924T Waxman, S. G., 2448W Wayne, R. K., 2219F Weale, M. E., 374*, 564W, 1470T, 1927T, 2082W, 2804T, 3348T Weaver, D. T., 1171T Webb, A. A., 2517W Webb, A. E., 66 Webb, B. D., 2928F* Webb, B. T., 2277W, 2500T, 2504F, 2594F* Webb, S., 315 Webber, C., 445F, 2476T Weber, C., 456W, 912T Weber, T. K., 1130F Webster, A. R., 2072F Webster, J., 2301W Webster, T., 493F, 1582F Weckselblatt, B., 938T* Wedel, R., 203 Weedon, M., 2709F, 2935W Weedon, M. N., 108, 1624T, 2148W Weeks, D. E., 22, 1464T, 1474F, 1963T, 2142W, 2156F, 2159F, 2178W Weersma, R., 461F Wegmann, D., 476W, 3406T Wehby, G. L., 1564F*, 1937F Wehrens, X., 667F Wei, C., 1995W Wei, J., 1259F, 1736W, 3065W Wei, J. J., 2698W, 2895F* Wei, L., 31, 2237F, 2605T, 3604W Wei, P., 1157F* Wei, Q., 1291F Wei, X. C., 3141W Wei, Z., 319*, 2121W, 2229W, 3561F Weichenthal, M., 154 SPEAKER AND AUTHOR INDEX *Presenting Author

416 414 SPEAKER AND AUTHOR INDEX Weidinger, S., 1939T, 1942T, 2102F, 2226W Weihbrecht, K., 323, 2690T* Weinberg, C. R., 1416T Weinberg, S., 1937F Weinberg, S. M., 1315F Weinberger, D., 2444F Weiner, A., 2673F Weinreb, R. N., 2154W, 2240F, 2263T Weinshilboum, R., 1247F Weinstein, D. A., 2712F Weinstein, G., 123 Weinstein, P., 611T Weinstein, S., 1012T Weinstock, G., 2325W, 2343W Weinstock, G. M., 2262W, 2320T Weir, B., 294 Weir, J., 3663F Weir, J. C., 366 Weir, J. M., 2308T Weis, J., 2681T Weis, M., 222, 2853F Weis, M. A., 2854W Weisburd, J., 1338T Weisenberger, D., 3415T Weisfeld-Adams, J. D., 168*, 958T Weiss, J., 2833W, 3020T Weiss, K. M., 194*, 1563T, 2179T, 2208W Weiss, L., 99 Weiss, L. A., 1274F, 2421W, 2555F, 3242F Weiss, L. W., 2510F Weiss, M., 53, 98 Weiss, M. M., 3200F*, 3650W Weiss, R., 538W* Weiss, S., 536W Weiss, S. M., 1225T Weiss, S. T., 622T, 623T, 638T, 811F, 2166W Weissglas, D., 2256W* Weissman, M. M., 369, 2372F Weissman, S., 334, 425F, 551F, 579F Weissman, S. M., 1225T Weitzel, J., 321 Weitzel, J. N., 1071W, 1219T Weksberg, R., 1872F, 1873F, 3420T*, 3447T, 3456T, 3482T, 3489T Welch, R. P., 34* Welch, S., 135, 1824F Welford, R., 684T Wellcome Trust Case Control Consortium, 1466W Wellcome Trust Case Control Consortium (WTCCC2), 1313W Wells, D. W., 1242W Wells, J. M., 2189F Wells, R. S., 3329W, 3349F Wells, S., 3377W* Welsh-Bohmer, K., 2465F Welter, D., 2108F Wen, F., 549F, 566W* Wen, J., 2977T* Wen, R., 2668W Wen, S., 3495T* Wen, X., 273, 1429F, 1463W* Wen, Y., 399 Wencel, M., 3144F Wendland, J., 260, 2622W Wendland, J. R., 261 Wendschlag, A., 515F Wendt, D., 763W Wendt, J., 3688W Wendt, K. S., 2958F Weng, Y., 1689T, 3467T Weng, Z., 397 Wenger, D. A., 2805F Wenger, N., 611T Wennerström, A., 3258T* Wentworth, B., 767W, 1698T Wentzel, S., 309 Wenz, M., 3708W Werling, D. M., 2551T, 2658W* Werneck, R., 1899W Werneck, R. I., 1978T Wernig, M., Session 78 Wernovsky, G. W., 2443T Wert, K. J., 393* Wertelecki, W., 302* Wesfeld-Adams, J. D., 3145W Weslow-Schmidt, J., 912T Wessman, M., 2348F West, A. B., 1235F West, C., 1965W West, J. D., 2511W, 2531F West, R., 397 West, R. B., 1054T Westbroek, W., 199 Westbrook, J., 1771W* Westbrook, M. J., 631T Westendorp, R., 2080T Westerfield, M., 2725W Westerman, M. P., 434W Westgate, K., 2359T Westhof, E., 522W Westlake, C., 1088F Weston, N., 2098T Westra, H., 584W, 1284T*, 1503T Westra, H.-J., 523F, 1621T, 2088W Weterman, M. A. J., 2909T* Wettrell, G., 2699T Wever, O. R., 3363T Wevers, R. A., 160, 167, 672T Wey, G., 730T Weyant, R., 2034W, 3406T Weyant, R. J., 1464T, 1474F, 2142W, 2156F, 2178W Whalen, M. B., 1516F Wheaton, D. K., 3234F Wheelan, S., 1229F Wheeler, B., 1306F Wheeler, D., 2880F Wheeler, D. A., 1221W, 1231T Wheeler, E., 43* Wheeler, M., 1601T, 2292W, 3232F Wheeler, W., 1010F Wheeler, W. A., 1372F Whelan, F., 639T Whigham, B., 386 Whincup, P. H., 1626T Whirl-Carrillo, M., 633T, 635T Whitacre, J., 3697F White, C., 2184W White, C. C., 1599T White, H., 454W White, J., 2701W White, J. G., 2838F White, J. K., 105 White, K. P., 614T White, M., 245* White, P., 2904F, 3530W White, P. S., 3590W* White, R., 37 White, R. S., 1989W White, S., 506W, 1911W, 2801T White, S. J., 1122W, 1273T* White, S. M., 131, 2925F White, W., 1715T Whitehead, P., 2330F*, 2508W, 2637W Whitehead, P. L., 9, 270, 2028W, 2049W, 2318F, 2445W, 2572T, 2583W, 2586W, 2614T Whitehead, P. W., 341 Whitehouse, A., 2164T Whitehouse, P. J., 317 Whiteman, D., 2190W Whitfield, J. B., 2212T Whiting, R., 784W Whitley, C., 714T, 715F Whitley, C. B., 801W* Whitley, W., 1855F Whitmer, R., 96 Whitsel, E., 2337W Whittaker, J., 1257W, 1387F Whittemore, A., 1001F Whittemore, A. S., 1214F Whittington, D., 1854F Whyte, J., 1133F Whyte, M. P., 2864T Wibrand, F., 702T Wichmann, H.-E., 1942T, 2103W, 2160W, 2226W Wickstrom, E., 797W Widagdo, J., 2796F Widen, E., 2059T, 2134T Widén, E., 2097W Wide Pissetti, C., 1593T Wie, J., 2437T Wieacker, P., 2595W Wieben, E., 1247F Wieczorek, D., 2356T, 2595W Wiedau-Pazos, M., 2661W Wiederkehr, M., 415F Wiegand, M., 2567F Wiegant, W. W., 27 Wieland, T., 567F, 582W, 2567F, 2595W*, 2917W, 2922F Wiemels, J., 2268W Wienker, T. F., 3550W Wieselquist, L., 1820F Wieskamp, N., 1749W Wiesner, G., 3097W Wiest, J. S., 1454W Wigg, K., 3509T Wiggs, J., 2135F Wiggs, J. L., 1887W, 2154W, 2240F, 2263T Wigler, M., 1600T, 2587T Wigner, C., 935W Wiitala, K., 3331F Wijburg, F. A., 681F Wijdicks, M., 3688W* Wijmenga, C., 155, 461F, 523F, 1284T, 1330F, 1503T, 2088W Wijmenga, S. S., 2696T Wijsman, E., 1541W Wijsman, E. M., 1605T, 2406W, 2549F Wiklund, F., 28, 205, 991T, 1001F, 1148F, 1189T, 1214F, 1990T Wilcox, A., 1564F Wilcox, A. J., 1472W Wilcox, E. R., 2724F Wilcox, W., 753T Wilcox, W. R., 712T Wild, P. S., 275, 1669T Wild, S., 1481W Wild, S. H., 1383T Wilde, J., 2958F, 3725F Wilde, S., 1669T Wildenauer, D. B., 2407T* Wildenauer, M. D. B., 2407T Wilder, J. A., 988T, 3314W* Wildman, D., 435F Wildsoet, C. F., 3521T Wiley, G., 1901F Wiley, G. B., 549F Wiley, L., 312*, 2321F Wiley, V., 166 Wilfong, A. A., 2395T Wilhelmsen, K., 2489F, 2542T Wilhelmsen, K. C., 231 Wiliams, N. M., 2405F Wilichowski, E., 758W Wilk, A., 44, 3441T Wilke, M., 696T Wilke, R. A., 647T Wilkens, A., 2904F, 3038F, 3082F Wilkens, L., 2042F Wilker, E., 3469T Wilkie, A. O. M., 218, 219, 2151W, 2746W, 3070F Wilkins-Haug, L. E., 70 Wilkinson, R., 3332W Wilkinson, S., 3720W Willaert, A., 833F Willard, H. F., 147 Willard, M., 1369F Willard, M. D., 1235F* Willatt, L., 3109W Willems, M., 3166F* *Presenting Author

417 SPEAKER AND AUTHOR INDEX 415 Willems, S. M., 1308T, 2076W, 2116T, 2137T Willemsen, M. A., 100, 160, 214 Willemsen, M. A. A. P., 125, 1734W Willemsen, M. H., 97, 100, 102* Willemsen, R., 513F Willems van Dijk, K., 228, 2107T Willenborg, C., 115, 119, 1308T, 2076W Willer, C., 117* Willer, C. J., 170, 2090F Willer, J., 2458T Willer, J. R., 3 Willer, T., 2812W Williams, A., 178, 3360T Williams, A. H., 1979F Williams, A. L., 48* Williams, B., 1765W Williams, C., 3126F* Williams, D. C., 2517W Williams, F. M. K., 503F Williams, G., 132 Williams, H., 1325W Williams, I. M., 162 Williams, J., III, 3020T Williams, K. L., 2816T* Williams, M. S., 3581F Williams, P. M., 1068W Williams, R. B., 1594T, 2481W Williams, R. C., 1348F* Williams, S., 1668T, 3388F Williams, S. M., 245, 606T, 1634T, 2572T, 3275W* Williams, S. R., 123* Williams, T. C., 3713F Williams, T. N., 2157W Williams-Blangero, S., 1280W Williamson, A. L., 1073F Williamson, D., 530W Williamson, K., 3072F Williford, B., 949W Willing, M. C., 220 Willis, A., 314, 1735W, 1742W, 1761W Willis-Owen, S. A. G., 3466T, 3469T, 3486T Willsey, A. J., 375, 2605T Willuweit, S., 3364F, 3402T Wilnai, Y., 3053W* Wilson, A. F., 1347T, 1396F, 1690T, 1983W, 2151W, 3070F Wilson, B. J., 149*, 150, 1827W, 1852F Wilson, J., 350, 1481W Wilson, J. F., 1383T, 2366F* Wilson, J. G., 170, 178, 284, 1408F, 1677T, 2210F, 2337W Wilson, K., 3388F Wilson, L., 126 Wilson, L. C., 217, 218 Wilson, M., 334 Wilson, M. J., 3290W Wilson, N. R., 2670F* Wilson, R., 465F, 809F, 1203W, 1210T, 2325W, 2343W Wilson, R. K., 375, 2320T, 2587T, 3296W Wilson, R. R., 3158F Wilson, S., 247, 1316W, 1928F* Wilson, S. G., 1216T* Wilson, T. E., 339 Wilson, W., 3053W Wilson Sayres, M., 281* Wiltshire, S., 119, 1308T, 2076W, 2137T Wimmer, K., 2791W Win, A. K., 141*, 1079F Winarni, T. I., 770W Winata, C. L., 3047W Winberg, J., 3245W* Winchester, L., 509F Winckler, W., 368 Windham, G., 7, 463F Windpassinger, C., 2570F, 2575T, 3456T Wineburg, M., 966T Wineinger, N. E., 434W, 1319W* Winge, M. C. G., 1939T* Wingo, T., 2477F Winham, S., 605T Winham, S. J., 2516F* Wininger, F., 784W Wininger, F. A., 2817F Winkelmann, J., 2086T, 2567F, 2568W Winkler, C. A., 2073W, 3315T Winkler, R., 732T, 772W Winkler, R. E., 745F Winkler, S., 200 Winkler, T., 1308T, 2076W Winkler, T. W., 108, 119, 1954T, 2090F, 2123F, 2147F* Winn, J., 1440T Winn, V. D., 3232F Winney, B., 181 Winquist, E., 135, 1824F Winqvist, R., 1099T* Winsvold, B. S., 2348F Winterhoff, B. J., 3451T Winters, A. H., 3027T* Wirth, B., 236* Wirth, R., 2944W Wise, C., 221, 2143T Wise, C. A., 1359T, 3108F Wiseman, R., 1671T Wiseman, R. W., 595F Wisjman, E., 1918T Wisnieski, F., 1132T, 3421T, 3503T* Wisotzkey, R., 1190F* Wissinger, B., 3126F Wissink-Lindhout, W. M., 102 Wiszniewska, J., 61, 314, 898T, 1742W, 1757W Wiszniewski, W., 360, 777W, 2798T, 2883F*, 2908W Wit, J., 2701W Wit, J. M., 131 Wither, J. E., 3382F Withers, M., 61 Witherspoon, D. J., 600F*, 3378T Withoff, S., 523F Witkowski, A. M., 33 Witmer, P. D., 520W Witonsky, D., 248 Witte, D. R., 2317T, 2347T Witte, J., 75, 1469W, 1548T Witte, J. S., 1250F, 1352W, 1501F, 1885T, 2202W, 2258F Witte, T., 2084F Wittemore, A., 28 Wittig, I., 699F, 782W Wittwer, C., 673F Wittwer, C. T., 495F Witwicki, R. M., 62, 415F Wo, M., 3204F Wodak, S., 320, 1872F, 1873F Wohler, E., 2918T Wohlleber, E., 2595W, 3109W Wojcik, G. L., 3393W* Wojczynski, M. K., 1913F Wokke, B., 574W Wold, H., 921W Wolf, D., 2788W Wolf, E., 2922F Wolf, I., 1063T Wolf, J., 1152W Wolf, L., 3185W Wolf, P. A., 123, 2528F Wolf, W. A., 1799W Wolfbauer, G., 1605T Wolfe, L. A., 2938W Wolfe, R., 2996T Wolffenbuttel, B. H. R., 2282F Wolfgeher, D., 1614T, 1683T Wolfner, M. F., 2214W Wolk, F., 59 Wöllner, K., 1005W Wollnik, B., 1*, 2944W, 3070F, 3214F Wollstein, G., 2154W, 2240F, 2263T Woloszynska-Read, A., 3428T* Wolyniec, P., 2461T, 2486F, 2573F, 2576F Won, H.-H., 1007F, 1103F Won, M., 3695F Won, M. S., 3710W* Wong, A., 2282F Wong, A. C. Y., 2662W Wong, B., 493F Wong, C., 1338T Wong, C. C. Y., 3487T* Wong, D., 3161W, 3518T, 3591F* Wong, D. A., 315, 680T Wong, E., 2494T* Wong, E. H. M., 1930T, 2066F, 2932W Wong, H. M., 3123W Wong, K., 256, 2786T Wong, K. C. C., 3466T, 3469T, 3486T Wong, K. K. Y., 1930T Wong, L., 245, 677F, 3209W Wong, L.-C., 683F Wong, L. J., 666T Wong, L.-J., 1750W Wong, L. P., 3339T Wong, M., 3612W Wong, P., 2573F Wong, R. C. C., 3100F Wong, S., 64 Wong, S. H., 143 Wong, S.-S., 1235F Wong, S. S., 614T Wong, T. Y., 429F, 2094W Wong, Z., 28 Wong-Ley, L. E., 650T* Woo, C., 412W, 486W, 3520T* Woo, M., 877W Woo, S., 3673F* Woo, Y., 3444T Wood, A., 1513F Wood, A. R., 108, 176, 1923W, 2148W*, 2241W, 2308T, 2339F Wood, B. M., 1781W Wood, G. C., 2078F Wood, N., 2581T Wood, S., 262 Wooderchak-Donahue, W., 225 Woodruff, T., 250 Woods, J., 133 Woods, R., 832F, 2262W Wood-Siverio, C., 2538W Woodward, S., 3321T, 3340F Woodward, S. R., 3365W Woollard, W. J., 2896W, 2925F Woolstenhulme, N., 1021T Workalemahu, T., 51, 108, 1954T, 2123F, 2147F Worley, M., Jr., 1272W Wormley, B., 2500T, 2594F Worrall, B. B., 123 Wortmann, S., 672T Woulfe, J., 2794W Wouters, E., 2249F Wouters, M. M., 2088W Woyciechowski, S., 65 Wragg, C., 2935W Wraith, J. E., 684T Wratten, N., 2467T Wrazien, S., 3530W Wren, J. D., 549F Wren, Y., 2164T Wright, A., 413F, 1481W Wright, A. F., 1383T, 2072F, 2366F Wright, C., 101, 291, 364, 2637W Wright, C. B., 1635T, 2583W Wright, F., 368, 2953W Wright, F. A., 171, 1322W, 1532W Wright, G., 644T Wright, G. E. B., 1808F* Wright, M., 1803W, 3651F SPEAKER AND AUTHOR INDEX *Presenting Author

418 416 SPEAKER AND AUTHOR INDEX Wright, M. F., 631T Wright, M. J., 2054F Wright, W., 1776W Writzl, K., 61, 3001T* WTCCC2, 2068T WTCCC2, Genetic Analysis of Psoriasis Consortium, I-chip for Psoriasis Consortium, 1927T Wu, B., 2696T Wu, C., 1027T, 2042F, 3584W Wu, C. C., 1298W*, 2936T Wu, C.-T., 444W Wu, D., 2027F Wu, G., 1502W* Wu, H., 382, 864T, 1338T Wu, J., 816F, 1314T*, 1723W, 1954T, 2123F, 2147F, 3604W Wu, J. Y., 2858T Wu, J.-Y., 2092T Wu, K., 623T Wu, K. H. C., 3167W* Wu, L., 581F*, 1161W*, 1162T, 2000F Wu, M., 1262F* Wu, M. C., 1532W Wu, Q., 2073W Wu, S., 1838F, 2149T*, 2874F Wu, S. W., 2438F Wu, S. Y., 1003T, 2053T Wu, T., 1472W*, 2721F, 3317W Wu, W., 1904F*, 3378T Wu, W. T., 2985T Wu, X., 213, 1684T, 3168F, 3237W Wu, X.-F., 3281W Wu, Y., 1546F, 1608T*, 1894T, 2617T, 3168F, 3237W Wu, Y. L., 458W Wu, Z., 668T, 2492F Wu-Chou, Y. H., 1472W, 1512T Wulur, I. H., 1235F Wunderink, M., 955W, 979W Wurfel, M. M., 1408F Würtz, P., 1623T* Wuyts, W., 2757F* Wyatt, A., 3161W Wyatt, C. R., 2717T Wynn, J., 3046F Wyrobek, A. J., 984W* X Xavier, A. C., 959W Xavier, J., 2150F* Xavier, J. M., 1977W, 2085W Xavier, R. J., 2319W Xe, Q., 457F Xerri, O., 390 Xi, L., 2804T Xi, Q. J., 82 Xia, B., 1099T Xia, F., 314*, 1742W Xia, H., 1930T Xia, J., 136, 3620W* Xia, K., 2251T, 2617T Xia, M., 242, 3490T Xia, Q., 2121W Xia, R., 1041W Xia, Y., 2227T Xian, M., 2251T Xiang, A. H., 1916F Xiang, K., 3317W Xiang, Q., 244, 457F Xiao, C., 3592W* Xiao, F., 1399F* Xiao, J., 2438F, 2782W* Xiao, M., 3025T*, 3649F Xiao, P., 3081W Xiao, T., 810F Xiao, W., 1112F, 1199F, 3485T Xie, C., 3604W* Xie, F., 1945T Xie, H., 1974W, 3168F Xie, L. Y., 3442T, 3452T Xie, P., 2621F* Xie, Q., 2623T Xie, W., 1546F, 1624T, 1693T, 2935W, 3509T Xie, Y. Y., 1110W Xifara, D., 16* Xing, C., 1368T* Xing, E., 1388W, 3605F* Xing, E. P., 2152T, 3391W Xing, J., 195, 600F, 1904F, 3297T, 3378T* Xing, Q., 2419T* Xing, Y., 2636F Xiong, L., 1670T, 2402F*, 2558F Xiong, M., 20*, 92, 192, 1401T, 1499W, 1508W, 1527T, 2460W Xiong, X., 1010F Xu, C., 651T, 1972T, 2495F* Xu, G. L., 3483T Xu, H., 1511W, 1864F*, 1907F, 3334F, 3418T* Xu, J., 28, 986F, 1001F, 1080W, 1214F, 1369F, 1491T, 1648T, 1661T, 2274W, 2332T, 2879T, 3285T, 3425T Xu, J. B., 3416T Xu, K., 2785W, 2892F Xu, L., 2237F Xu, N., 1255T Xu, Q., 2617T Xu, S., 443F, 520W*, 909W*, 3334F, 3358F, 3394T* Xu, T., 532W, 3723F Xu, W., 909W, 1108T, 2819T Xu, X., 1100F*, 1255T, 2617T, 2935W Xu, Y., 161, 1298W Xu, Y.-H., 690T Xu, Y. H., 2667F Xu, Y.-Q., 2970T* Xu, Y. Q., 836F Xu, Z., 2477F*, 3231W* Xue, C., 170 Xue, F., 1365T Xue, X., 2080T Xue, Y., 41, 130, 3377W Xue, Z., 641T, 651T* Xumerle, L., 2548T Y Yadak, R., 796W Yadavalli, A. D., 3630W* Yaghootkar, H., 1284T, 1503T, 2148W Yagi, M., 729F*, 781W Yagmurdur, M. C., 3426T Yagnik, G., 2151W* Yahya, Z., 3034T Yahyavi, M., 810F*, 2926W Yakhini, Z., 3588W Yakir, B., 3675F Yakubovskaya, M., 1180T, 1181F Yamada, K., 2748F Yamada, R., 1984T, 2004W Yamada, T., 2174F Yamada, Y., 2748F* Yamagata, S., 2550W Yamagata, T., 2588F, 3118F Yamagata, Z., 1819W*, 1833W, 1980W Yamagata University Genomic Cohort Consortium, 1549F Yamaguchi, S., 1574W, 2747T Yamakage, M., 1940F Yamamoto, E. H., 2876T Yamamoto, G. L., 2232W, 3152F, 3184F, 3250F* Yamamoto, K., 1574W, 1984T, 2004W, 3436T Yamamoto, M., 2619W Yamamoto, N., 1815W Yamamoto, R., 234 Yamamoto, T., 233, 1290T, 3102F Yamanaka, H., 2004W, 2032T, 2287T Yamanaka, I., 2697F Yamano, A., 2748F Yamanouchi, Y., 1795W*, 2891T Yamaoka, M., 2130W Yamasaki, M., 2496W* Yamashita, C., 1730W, 2559W Yamashita, H., 1549F Yamauchi, A., 3337F Yamauchi, N., 52 Yamazaki, K., 2174F* Yamazaki, T., 2873T Yammine, T., 2692W Yamrom, B., 2587T Yan, A., 3730W Yan, C.-Y., 1216T Yan, J., 1465F Yan, K., 1475W Yan, L., 2489F, 3293W, 3425T, 3428T Yan, Q., 2445W Yan, S., 1524T*, 3265F, 3379F* Yan, W., 1986W Yanagi, K., 2758W Yanagi, T., 724T Yanagihara, I., 475F Yandell, M., 195, 3561F, 3633F Yanek, L. R., 1652T*, 1710T Yang, B. Z., 2497T Yang, C., 2204F, 2207F* Yang, F., 438W Yang, H., 531F, 1249T, 1391W, 1905W*, 2617T Yang, H. C., 3430T Yang, I., 3466T Yang, J., 108, 1331W, 1360F, 2016W*, 2090F, 2200T*, 2388W*, 2574W, 3370F, 3470T Yang, J. P., 2482T Yang, K., 1071W Yang, L., 3667F Yang, M., 1540F Yang, M. Y., 80 Yang, P., 989F, 1454W Yang, Q., 123 Yang, R., 1517W* Yang, S., 2273F, 3330T Yang, S. P., 658T Yang, T., 411, 583F Yang, T.-P., 44, 3453T Yang, W., 180*, 586W, 1468F*, 1929W, 2016W, 2064W*, 3657F Yang, X., 116, 159, 864T, 2220W*, 2660F Yang, X.-H., 2969T, 2970T Yang, Y., 314, 821F, 864T, 985T, 1735W*, 1742W, 1757W, 1761W, 1972T, 2921T, 3488T* Yang, Z., 2390F*, 2574W, 3317W Yanicostas, C., 843F Yanikkaya Demirel, G., 2429F Yannoukakos, D., 1191W, 1228T Yano, K., 2287T Yano, S., 237* Yanovitch, T., 2328W Yanovski, J. A., 2702T Yao, W., 1249T Yao, Y., 2584T, 2917W Yap, Z., 216 Yarnall, J. M., 1329T Yarnykh, V. L., 2530T Yaron, O., 2919F Yaron, Y., 704T Yasari Mazandarani, A., 1961F, 1962W* Yashin, A., 1991F, 2027F, 2194T Yaspan, B., 15, 1887W, 2135F Yaspan, B. L., 2154W, 2240F*, 2263T Yasuda, C. L., 2394W Yasufumi, O., 3519T* Yasui, D. H., 64, 2783T*, 3498T Yasukawa, K., 1631T *Presenting Author

419 SPEAKER AND AUTHOR INDEX 417 Yasunami, M., 1998W, 1999T* Yates, J. C., 2249F Yates, J. R. W., 2072F Yato, S., 3221W Yatsenko, S., 904T Yatsenko, S. A., 971W, 1744W* Yatsuka-Kanesaki, Y., 2923W YAtsuki, H., 3432T Yatsuki, H., 3519T Yau, M., 2812W Yazarlou, F., 1169F Yazdani, R., 448W Yazici, H., 3475T Ye, C., 322, 528W, 1341T Ye, K., 459F*, 2587T, 3309T* Ye, L., 859W, 1699T Ye, X., 1472W, 2151W, 2928F Ye, Z., 1626T, 2297F, 3326W Yeager, M., 30, 213, 1012T, 1154F, 1160F, 1218W, 1242W, 1372F, 1517W, 3683F Yeakley, J., 1176W Yee, J. K., 695F Yee, M. C., 293, 371, 3361F, 3362W, 3368W, 3411W Yeetong, P., 2749W* Yeh, E., 2687T Yeh, T., 666T Yeheskel, A., 2919F Yehuda, D., 1159T Yemelyanov, A., 1181F Yen, T., 3596W Yendle, S. C., 2897T Yeo, A., 641T Yeo, G. S. H., 3034T Yeoh, K. H., 2491T Yeow, V., 1472W Yerges-Armstrong, L. M., 602T, 2275T Yerko, V., 2482T Yesilyurt, A., 2881W Yeung, W. S. B., 3000T Yevtushok, L., 302 Yi, K., 2251T Yi, L., 2686W* Yi, N., 1292W, 1410T, 3613F Yi, X., 3300T Yigit, E., 512W, 3517T, 3702W, 3715F Yilmaz, E., 2058W Yilmaz, N., 594W* Yilmaz, S., 594W, 1164W, 1166F, 3132F Yilmaz Celik, Z., 1013F*, 3424T, 3426T Yilmaz Susluer, S., 1178F Yilmaz Süslüer, S., 1172F Yim, P., 412W Yim, P. W., 486W* Yim, S., 3103W Yim, S. H., 3607F Yin, A. H., 1723W Yin, B., 1757W Yin, H. W. H., 1034F* Yin, J., 477F, 2152T*, 3605F Yin, X., 660T, 1585T Yip, B. H. K., 2066F Yip, W., 1431T* Yiu, E., 2742F Yiu, M., 963W* Ylaya, K., 1092W Ylstra, B., 494W Yntema, H., 215* Yntema, H. G., 97, 102, 125, 1749W Yntema, J. B., 216 Yokota, T., 232, 729F Yokoyama, E., 875W, 976T, 2365T Yokoyama, J. S., 2517W*, 2639F Yolken, R., 1406W Yonath, H., 783W* Yoneda, M., 245 Yonezawa, A., 2917W Yoo, H., 2518T* Yoo, H. W., 698T, 787W* Yoo, H.-W., 964T, 3227W Yoo, N., 1230W Yoo, S., 1248W Yoo, Y., 1384F Yoon, E. J., 1338T Yoon, G., 2554T* Yoon, J., 1243T, 3462T Yoon, O. K., 571F* Yoon, S., 866T, 867W, 3112F York, T., 3512T* York, T. P., 1717W Yoshida, A., 2697F Yoshida, L. M., 1998W, 1999T Yoshida, M., 52, 2349W, 2380T* Yoshida, S., 2287T* Yoshida, Y., 1333F Yoshihashi, H., 3105W*, 3192F Yoshikawa, A., 2370W*, 2652W Yoshikawa, T., 1631T Yoshimatsu, H., 2917W Yoshimura, A., 2418W, 2601W, 2607W, 2616W, 2823F Yoshimura, J., 2409W, 2569T Yoshino, H., 52, 2559W, 3134F, 3221W Yoshino, M., 724T Yoshinori, T., 3136F Yoshizawa, G., 1815W Yoshizawa, J., 1317T Yosunkaya, E., 2912T* You, G., 3473T You, M., 1454W Young, A., 1515T, 2042F Young, B. M., 1162T Young, C., 1869F Young, D., 2480F Young, J., 794W*, 1072T, 2672T Young, J. E., 2628W Young, J. I., 347, 2837T Young, J. P., 141, 1067F Young, K. L., 1467T* Young, L. J., 2383T Young, S. P., 168 Young, T., 521F*, 2328W, 2543F Young, T. L., 454W, 2068T, 3521T Young, W. L., 589F Youngblom, J., 145, 1810F Younkin, S., 3609F Yourdkhani, H., 3083W Yourshaw, M., 296*, 315 Yousaf, R., 2663T, 2724F* Yousefi, P., 3458T Yousif, F., 1256F Yrigollen, C. M., 2634W* Yu, C., 601T*, 2550W Yu, C. C., 232, 3513T* Yu, C. E., 2646W Yu, C. S., 3730W Yu, C. Y., Session 22, 458W Yu, D., 1027T, 1480F, 2519F* Yu, F., 174, 331*, 3576W Yu, H., 1731W, 2884W*, 3479T Yu, I., 346 Yu, J., 148*, 174, 963W, 1004F, 1842F, 1930T, 2251T, 2617T Yu, J. H., 301 Yu, K., 1010F Yu, L., 1359T Yu, L.-H., 234 Yu, M., 516W, 1666T Yu, S., 978T Yu, T., 2003F* Yu, T. W., 8*, 452W, 2613W Yu, X., 3585F, 3593F* Yu, Z., 389, 834F, 839F, 1493W*, 1969T, 2678T Yuan, A., 3533F Yuan, D., 2251T Yuan, G., 3659F Yuan, H., 2868F* Yuan, J., 2601W* Yuan, Q., 2234F Yuan, Y., 1269W Yudkoff, M., 534W Yue, Y., 1235F Yuen, R., 175 Yuen, R. K., 460W*, 2617T Yuen, R. K. C., 3445T Yuksel, A., 2908W Yum, S., 3673F Yum, S. W., 330 Yun, J., 3103W Yund, B., 714T Yurovsky, A., 561F Yusuf, S., 617T, 619T Yuvarani, S., 931W Yuzyuk, T., 686T* Z Zabetian, C., 2538W Zaccarioto, T. R., 2751F Zachariadis, V., 1035W* Zack, D. J., 2154W, 2240F, 2263T Zackai, E., 65, 1494T, 2904F, 3082F, 3151W Zackai, E. H., 819F, 2884W, 3038F Zackai, E. Z., 2443T Zada, G., 3415T Zaenglein, A., 2761W Zaghlool, A., 3728W* Zaghloul, N., 310 Zagury, J.-F., 90 Zahavich, L., 1704T* Zahid, S., 1579F Zahnleiter, D., 2356T Zahra, R., 508W Zahrate, M., 324 Zahrieh, D., 768W, 769W Zai, C., 628T*, 2376W Zai, G., 612T* Zaidi, S., 2542T Zaitlen, N., 89, 350*, 1331W, 1360F, 1577W Zakariyah, A., 831F Zakharia, F., 3352F, 3360T, 3380W*, 3390T, 3563F Zaki, M. J., 3570W Zaki, M. S., 167, 2937F Zakov, S., 1043F* Zaldivar, F., 3144F Zalloua, P., 1640T, 3349F, 3377W Zalloua, P. A., 3387T Zamani, A. R., 860T Zamanyan, A., 3587F Zamarron-Licona, E., 2019W* Zambruno, G., 2760F Zamir, I. M., 731F* Zampella, J., 1260W* Zampetaki, A., 3723F* Zampieri, S., 2809W Zamudio, R., 1119W, 3325F Zamudio, R. M., 926T Zamzuraida, A. S., 3267T Zanardo, E., 896T, 899W Zand, D., 2915T Zandi, P. P., 2180F, 2305T, 2391W Zandi, S., 1093T Zandoná, A., 896T Zandoná-Teixeira, A., 899W Zanetti, G., 157 Zaneveld, J., 1779W, 2910F* Zang, W., 573F Zang, Z. J., 2889F Zaniew, M., 845F Zanke, B., 377, 3478T Zanke, B. W., 1093T, 3489T Zanlonghi, X., 390 Zanni, G., 943W, 2777T Zannis-Hadjopoulos, M., 2824W Zapata, G., 1646T Zapata, G. E., 2189F Zappia, M., 2763F Zara, I., 157*, 186 Zaragkoulias, A., 218 Zaragoza, M. V., 1691T* Zarante, A., 3041W, 3049W* Zarante, I., 1876F*, 3035W SPEAKER AND AUTHOR INDEX *Presenting Author

420 418 SPEAKER AND AUTHOR INDEX Zarate, Y., 3171W* Zarbakhsh, B., 1726W Zarina, L., 608T Zariwala, M. A., 2851W* Zariwala, M. B., 406 Zaslav, A., 1036T* Zattara, H., 1212W Zatyka, M., 2767W Zatz, M., 1727W, 1776W Zavala, J., 2495F Zavala-Castro, J., 2272T Zavaleta, M. J., 960T Zaveri, H., 840F*, 2678T Zawistowski, M., 476W, 1371T, 3406T Zayed, H., 2643W Zaykin, D., 1364W*, 1570F Zazo Seco, C., 58, 59 Zbar, B., 1242W Zechi-Ceide, R., 2673F Zechi-Ceide, R. M., 813F, 2746W Zechner, U., 849F, 3266W* Zeegers, D., 3034T Zeesman, S., 300 Zeevi, D. A., 2991T, 3002T* Zeggini, E., 2044T*, 2097W, 2292W, 2522F, 3396T, 3408T Zehnder, J. L., 1017W Zeidler, C., 1868F Zeien, G., 422W Zeinali, S., 1726W, 3197W Zeissig, S., 2315F, 2368T Zeissig, Y., 2315F Zelante, L., 775W Zeldin, D. C., 606T Zeledòn, M., 2486F Zeledón, M., 2461T* Zelenetz, A., 1159T Zelenika, D., 2072F Zelhof, A. C., 2966T Zeligson, S., 2447F, 2991T Zelinski, T., 2772F Zeller, T., 275, 1669T* Zellers, A. D., 1806F* Zeman, J., 752T Zembutsu, H., 2133W Zemel, B. S., 812F* Zen, P., 2434T Zender, G., 1680T Zender, G. A., 1646T Zeng, C., 245, 2251T Zeng, L., 3415T Zeng, Q., 1292W Zeng, R., 2805F, 2817F* Zeng, W., 2698W*, 2895F, 2907F, 3065W Zeng, Z., 1464T, 1474F, 2034W, 2156F Zerdoumi, Y., 1090T Zeringer, E., 3684W Zerres, K., 3111W Zethelius, B., 2358W Zettermann, K., 3729F Zeuner, K. E., 200 Zevallos, J., 1120T Zeviani, M., 164, 699F, 782W, 2810T Zha, Z., 1256F Zhai, J., 1232F Zhan, S. H., 2772F Zhan, X., 641T, 1510F, 1525F*, 1568W, 2183F Zhan, Y., 1582F* Zhang, B., 503F*, 2403W, 2804T Zhang, C., 1369F, 2080T, 2644T Zhang, C. K., 189 Zhang, D., 221, 3438T Zhang, F., 63, 138, 1004F, 2112W, 2668W Zhang, G., 487F*, 1027T*, 1239W, 1660T Zhang, H., 893W, 1434T, 2121W, 2184W, 2314T, 3317W, 3582W Zhang, H. S., 803W Zhang, H. X., 2985T Zhang, J., 31, 821F, 888T, 1003T, 2251T, 2921T, 3595F* Zhang, J. G., 1473T*, 2053T, 3534W Zhang, K., 283, 519F, 1292W, 1410T, 1764W, 1779W, 2154W, 2240F, 2260T, 2263T, 2910F, 3474T, 3493T, 3594W*, 3646W Zhang, L., 255, 999W, 1159T, 1275W*, 2053T*, 2172W, 2981T, 3097W* Zhang, M., 1972T Zhang, N., 3675F Zhang, P., 1534F* Zhang, Q., 18*, 33, 404, 1004F, 1203W, 1369F, 1457W*, 2040W Zhang, R., 577F* Zhang, R. Z., 1930T Zhang, S., 1409W, 2206T Zhang, S. Y., 3599F Zhang, T., 135, 457F, 1974W, 2623T Zhang, T. X., 1472W Zhang, V., 1750W, 3209W Zhang, V.-W., 683F Zhang, W., 49, 110, 161, 1320T, 2292W, 3472T, 3719F Zhang, X., 159, 462W, 836F, 2016W, 2064W, 2254T, 2868F, 3317W, 3472T Zhang, Y., 334, 579F*, 600F, 836F*, 1723W*, 1995W, 2016W, 2064W, 2215T*, 2721F, 3474T, 3545F Zhang, Z., 377, 421F, 457F, 534W*, 2063F*, 3058F, 3438T, 3670W Zhao, G., 1777W, 3600W Zhao, H., 189, 1201T, 1283W, 1635T, 2204F, 2207F, 2478W, 2497T, 2503T, 2621F, 3237W Zhao, H. Z., 1974W Zhao, J., 192*, 1527T Zhao, J. H., 1365T*, 1553W, 2359T Zhao, J.-H., 2282F Zhao, K., 3254W Zhao, M., 1101W*, 2237F, 3606W* Zhao, T., 2999T Zhao, W., 171 Zhao, X., 1367W Zhao, X.-L., 1986W Zhao, Y., 134, 544W, 557F, 2721F, 3631F Zhao, Z., 136*, 1101W, 2418W, 3554W, 3620W Zheng, H., 480W, 1369F, 3265F*, 3355F, 3645F* Zheng, H. F., 109 Zheng, H.-F., 2187W Zheng, P., 1463W Zheng, S., 28, 888T Zheng, S. L., 1080W Zheng, W., 2202W, 2644T Zheng, X., 294*, 2098T Zheng, Y., 1003T*, 1972T Zheng, Z., 2178W Zheng, Z. H., 836F Zheng Bradley, H., 3636W Zhernakova, A., 461F*, 523F Zhernakova, D. V., 523F Zhi, D., 1410T, 1460W, 1502W, 3594W, 3646W* Zhong, H., 3317W, 3574W Zhong, J., 242*, 2337W Zhong, N., 1613T, 1864F, 1877F, 1986W*, 2355W, 2969T, 2970T, 3025T, 3029T Zhong, W., 1930T Zhou, B., 458W, 1591T, 2617T Zhou, D., 3307F, 3438T* Zhou, E., 1251W Zhou, F., 3553F Zhou, H., 38*, 214, 1369F, 1866F, 3621F Zhou, J., 54, 241, 1515T, 1526W*, 1886F, 2254T Zhou, J. H., 1986W Zhou, L., 1540F Zhou, Q., 3553F Zhou, S., 1670T*, 2402F Zhou, S. L., 836F Zhou, T., 798W Zhou, X., 462W*, 1514W*, 2254T, 2868F Zhou, Y., 864T, 1019F Zhou, Z., 2297F Zhou, Z.-N., 3281W Zhu, C., 349*, 2419T Zhu, D., 2419T Zhu, G., 174, 2212T Zhu, H., 557F Zhu, J., 368, 586W, 1107W, 1540F, 1777W, 2220W, 2910F, 3123W Zhu, J.-Z., 1613T, 2355W* Zhu, L., 864T Zhu, Q., 3251W, 3310F* Zhu, W.-Z., 3281W Zhu, X., 350, 369, 579F, 1376W, 1460W, 1466W, 1659T, 1959W, 2063F, 2210F, 2372F, 3658W* Zhu, X. Z., 2053T Zhu, Y., 4, 20, 92, 192, 254, 382, 1004F*, 1527T* Zhu, Z., 2251T Zhu, Z.-H., 1540F Zhu, Z.-Q., 457F Zhu, Z.-X., 1540F* Zhukov, O., 2260T Zhurov, A., 1528F Ziccardi, W., 591F* Zickus, M., 1667T Zidan, J., 3336T Zieba, J., 838F* Ziebell, S., 422W Ziegler, A., 200, 275, 1443T*, 1669T Ziegler, J., 1979F Ziegler, J. T., 1888T Ziegler, R. G., 2202W Ziehe, M., 3524T Zielenski, J., 1731W Ziemek, D., 503F Ziff, J. L., 2302T* Zigman, W., 859W Zilka, M., 123, 3704W*, 3716W, 3731F, 3733F Zill, O., 311* Zillges, H., 3373F Zillikens, M. C., 1334W, 1954T, 2123F, 2147F, 2169W Zimdahl-Gelling, H., 617T Zimmerman, E., 948T Zimmerman, J., 1292W Zimmerman, S. L., 3194F* Zimmerman-Bier, B., 2381F Zimmermann, A. F., 1405F Zimmermann, K., 236 Zimon, M., 201, 2948T* Zimprich, A., 2568W Zimran, A., 746T, 773W, 788W* Zink, A., 186 Zink, A. M., 1005W, 2595W, 3109W Ziolkowska-Suchanek, I., 1184F Zissel, G., 2103W Ziv, E., 1075T, 1078T, 1152W, 1576F, 2080T, 2195F* Zivony-Elboum, Y., 199 Zlatopolsky, Z., 251 Zode, G. S., 387* Zody, M. C., 437F Zoellner, S., 1542T Zoghbi, H., 2807T Zoghbi, H. Y., 2769F Zoledziewska, M., 113, 157, 177, 1451W, 1516F, 3664W Zöllner, S., 476W, 1521T, 1534F, 3285T, 3406T *Presenting Author

421 SPEAKER AND AUTHOR INDEX 419 Zondervan, K. T., 44, 583F, 2056T, 2077T, 2133W Zongaro, S., 513F* Zook, J. M., 3647F* Zou, H., 1359T Zou, J. Z., 1974W Zou, R., 198 Zu, T., 2645F* Zuccherato, L. W., 3325F Zuchelli, M., 807F Zuchner, S., 57, 347, 1681T, 1871F, 2470T, 2583W, 2586W, 2603F, 2615F, 2668W, 2820F, 2930T Züchner, S., 201, 2637W, 2948T Zuckerman, B., 3026T Zufferey, F., 62, 299 Zumbo, P., 376, 1818F, 2610W Zúñiga, G. M., 1111T Zupan, A., 3381T* Zusevics, K. L., 1837W Zusi, C., 2548T, 2659T* Zuvich, R. L., 631T Zvi, T., 704T Zvulunov, A., 2810T Zwaigenbaum, L., 175 Zweemer, R., 400 Zweier, C., 2595W, 2666T* Zweig, A., 3557F, 3612W Zweynert, S., 3364F, 3402T Zwick, M. E., 1349W, 2069F, 2312F Zwiefelhofer, T., 3014T Zwinderman, A. H., 1604T Zymak-Zakutnia, N., 302 SPEAKER AND AUTHOR INDEX *Presenting Author

422 ASHG 2012 MOBILE APP Download the ASHG 2012 Mobile App to your smartphone (ios, Android, and Blackberry platforms). The mobile App brings the meeting to your fingertips wherever you go. Once the App has been downloaded, you do not need an Internet connection to view information. See ad on page 422. RECORDED PRESENTATIONS AVAILABLE AFTER THE MEETING Invited Sessions, Award Presentations, and the Plenary Sessions will be recorded and posted on the Web site after the meeting. These recordings are free to meeting registrants. Visit the ASHG Web site in early December to view these presentations. During the meeting, attendees are encouraged to post thoughts on exciting scientific or clinical advances heard at a session or workshop and on challenges that the field will face by using hashtag #ASHG2012 or by posting on the ASHG Facebook page. The posts will be monitored and may be discussed at the Closing Symposium on Saturday. Society, use #ASHG2012 Facebook: Follow ASHG on Twitter before and during the week of the 2012 Meeting to get the latest updates, tips, news, and announcements.

423 The Heart of the Exhibit Hall Central Get Answers at the ASHG Membership booth Meet your Editors at the American Journal of Human Genetics booth Learn about Boston, the destination for ASHG 2013 Meet Society Leadership Sit down in our seating area Recharge your electronics Network with colleagues

424 YOUR GUIDE TO THE ASHG 2012 MOBILE APP info search exhibitors Contacts notes continuing education twitter schedule MAPS notifications

425

426 Don t Miss Out! Stop by the American College of Medical Genetics and Genomics (ACMG) Booth 318 during the ASHG Meeting in San Francisco. Apply for ACMG membership during the ASHG meeting and SAVE $125 on ACMG membership and event registration. Enter drawings for a Kindle Fire and a 2013 ACMG Annual Meeting Registration! Check out the Live Online Learning Center and much more! Plan Now to Attend! Mark Your Calendar Detailed program, registration, and hotel information available October 2012 at Abstract submission opens: October 2012 Abstract submission deadline: Friday, December 7, ACMG Genetics Review Course June 2013 Info Coming Soon at

427

428 ESHG 2013 Paris, France, June 8 11, 2013 E u ro p e an Huma n G enet i c s Conferen c e A bs tr ne ac Fe t su br bm ua i ry ss 15 ion,2 d 01 ea 3 dli This international conference (now in its 46th year) is a forum for all workers in human and medical genetics to review advances and develop research collaborations. The conference has become one of the premier events in the field of human genetics with over delegates, more than 100 oral presentations, 16 workshops, and 8 educational sessions. The ESHG conference is where the latest developments in human genetics are discussed, and where professionals from all parts of human genetics meet. :

429 Natera Introduces Next Generation Non-Invasive Prenatal Testing Natera can detect more chromosomal abnormalities than other non-invasive tests NIPT from Natera provides twice the disease detection and is the only test to detect X and Y chromosome abnormalities Natera s Parental Support is the only technology with consistently high detection accuracy across all five chromosomes [>99%]: 13, 18, 21, X, and Y. Natera also offers the following: Noninvasive Prenatal Paternity Testing Products of Conception (POC) Molecular Karyotype Preimplantation Genetic Diagnosis (PGD) Natera One Multi-Disease Carrier Screening Contact Mollie Larson at mlarson@natera.com to learn more or to have kits sent directly to your office. Visit us at booth nd Annual Meeting of the American Society of human Genetics November 7 9,

430 Let s talk about NGS and data overload.

431 NGS is a great discovery tool. But if you re using it for validation, you re wasting valuable time. The Sequenom MassARRAY System* gives you the specificity and sensitivity you need for research. A proven platform with over 1,500 peer reviewed publications including GWAS validation, it delivers accurate results in a matter of days. So what did you just find? An essential research validation tool that pays for itself. *The MassARRAY System is for Research Use Only. Not for use in diagnostic procedures.

432 A new, innovative website JAMA and 9 specialty Archives Journals Rich multimedia and interactive features Precision search, relevant content 200 new articles every week 1 network. 1 website. Access the new online home of JAMA and the entire JAMA Network. The JAMA Network website offers fully integrated access to the research, reviews, and perspectives that shape the future of medicine. Spanning all 10 of The JAMA Network journals, it equips you with the medical insights that matter most to your practice. Join the experts at jamanetwork.com Please visit us in booth #1201

433 PGM for genes. Proton for genomes. Sequencing for all. Powered by fast, simple, scalable semiconductor chips, the Ion PGM Sequencer introduced an entirely new approach to sequencing, making it dramatically faster and more accessible. The new Ion Proton Sequencer will go even further. With chip densities up to 1,000-fold greater than the Ion PGM Sequencer, the Ion Proton Sequencer will put whole-genome sequencing within reach of every lab. Visit Life Technologies at booth #601 at ASHG or look for the Ion Bus in the Exhibit Hall Get fast, affordable benchtop sequencing at lifetechnologies.com/ionsequencing For research use only. Not intended for any animal or human therapeutic or diagnostic use. The content provided herein may relate to products that have not been officially released and is subject to change without notice 2012 Life Technologies Corporation. All rights reserved. The trademarks mentioned herein are the property of Life Technologies Corporation or their respective owners. CO

434 The Definitive Evolution of Genotyping Coverage 90% 85% 80% 75% Axiom World Array 4 Competing Array 70% MAF >1% MAF >5% Axiom Genotyping Solution. Survival of the fittest. Axiom Genotyping Solution is the most powerful genotyping workflow delivering superior coverage of populations, disease genes, and rare variants at an affordable price. Unique GWAS, replication, and fine-mapping content on one array Unrivaled coverage of the exome, disease genes, and functional regions Cost-effective custom array design with 100% SNP conversion Axiom Genotyping Solution adapts to the needs of your research coverage and flexibility like never before. Contact your Affymetrix representative today or visit Join our luncheon seminars: Wednesday, Nov. 7, 12:45 2:15 PM Room 302, Esplanade Level (South), Moscone Center Enabling the Genome Generation #1: population-optimized strategies and genotyping solutions for expanding our understanding of the genetic variations in complex diseases Thursday, Nov. 8, 12:45 2:15 PM Room 307, Esplanade Level (South), Moscone Center Enabling the Genome Generation #2: next-generation cytogenetics solution for constitutional and cancer research applications Visit booths #918/920, #925/927. Box lunch will be provided. First come, first served. Affymetrix, Inc. All rights reserved. For Research Use Only. Not for use in diagnostic procedures.