Updated 7/13/11 MEDICAL COLLEGE OF GEORGIA CURRICULUM VITAE

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1 MEDICAL COLLEGE OF GEORGIA CURRICULUM VITAE Updated 7/13/11 NAME: MCG TITLES: Professor of Pediatrics Vice Chair for Administration Medical Director for Pediatric Ambulatory Care Chief, Genetics Division ADDRESS: Medical College of Georgia th Street Room BG Department of Pediatrics Augusta, GA OFFICE TELEPHONE: (706) OFFICE FAX: (706) PERSONAL: Home Address: Home Telephone: Citizenship: Sex: Race: Marital Status: Spouse's Name: Date of Marriage: Children: EDUCATION: College: Columbia University, New York, B.A., Psychology, Graduate: Emory University, Atlanta, GA, M.D., Internship: Pediatrics: Emory University Affiliated Hospitals, July June 1977 Residency: Pediatrics: Emory University Affiliated Hospitals, July June 1978 Pediatrics: University of Virginia, July June 1979 Fellowship: Human Genetics: Medical College of Virginia, Virginia Commonwealth University July June 1983 Additional Education: Post-graduate Certificate in Health Services Research and Health Economics, Medical College of Georgia, December 1999

2 Curriculum Vitae Page 2 LICENSURE Georgia State Board of Medicine, 1984-Present BOARD CERTIFICATION American Board of Pediatrics, 1982 American Board of Medical Genetics, Clinical Genetics, 1984 PROFESSIONAL APPOINTMENTS: Vice Chair for Administration, Department of Pediatrics, Medical College of Georgia, 2/1/09 - present Vice Chair for Education, Department of Pediatrics, Medical College of Georgia /1/09 Practice Director, Pediatric Ambulatory Care, Medical College of Georgia present Director of Pediatric Education, ( Vice Chair for Education) Department of Pediatrics, Medical College of Georgia Professor, Department of Pediatrics, Medical College of Georgia July 1, present Director, Pediatrics Residency Training Program, Medical College of Georgia September 1, April 1, 1997 Associate Professor, Department of Pediatrics, Medical College of Georgia July 1, June 30, 1993 (Tenured 1988) Chief, Section of Genetics, Department of Pediatrics, Medical College of Georgia July 1, present Assistant Professor, Department of Pediatrics, Medical College of Georgia July 1, June 30, 1988 Assistant Professor, Department of Pediatrics, Medical College of Virginia July 1, June 30, 1984 Assistant Professor, Department of Human Genetics, Medical College of Virginia July 1, June 30, 1984 Instructor, Department of Human Genetics, Medical College of Virginia July 1, June, 1983

3 Curriculum Vitae Page 3 Medical Director, Louisa Health Center for Young People (US National Health Service Corps), Louisa, Virginia July June 1981 Clinical Instructor of Pediatrics, University of Virginia School of Medicine July June 1981 NATIONAL ACTIVITIES: American Academy of Pediatrics Section on Genetics and Birth Defects present Nominations Committee Chair, Sub-Committee on Outcomes Studies Chair, Executive Committee American Board of Medical Genetics Member, Writing Committee for the 1993 ABMG Clinical Genetics Examination, Member, Writing Committee for the 1996 ABMG Clinical Genetics Examination, Member, Book Committee for the 2006 ABMG General Genetics Examination American Board of Genetic Counseling Accreditation Site Visitor present Genetic Counseling Training Programs Assessed: - University of Pittsburgh, March University of California, Berkeley, March University of Texas, Houston, February University of Arizona, Tucson, February University of North Carolina at Greensboro, February University of Arkansas for Health Sciences, Little Rock, February Sara Lawrence College, Yonkers, NY February 2011 Consultant for Board Planning Retreat, San Diego October 2001 American College of Medical Genetics CPT and Reimbursement Committee, Economics of Genetics Services Committee, 1996 present Co-Chair, Editorial Panel for Genetics Billing and Reimbursement Manual 2000 American Medical Association Current Procedural Terminology (CPT ) Advisory Committee, present Team Conference Code Work Group, 5/04 10/06 Medical Literature Standards Work Group 2009

4 Curriculum Vitae Page 4 Center for Birth Defects Information Services, Dover, MA Board of Medical Advisors Joubert Syndrome Foundation (An international parents' support group) Medical Advisor, Scientific Advisory Board present National Board of Medical Examiners, Philadelphia, PA USMLE Committees Member, Item Review Committee, for the United States Medical Licensing Examination (USMLE) Step 3 Exam January 2001 Member, Family in Community Test Development Committee for the USMLE Step 3 Exam reappointed Member, Item Modeling Task Force, 1996 National Neurofibromatosis Foundation, New York, NY Clinical Care Advisory Board Diagnostic Criteria, Screening, and Follow-up Committee, Medical Issues Committee National Newborn Screening and Genetics Resource Center Expert Work Group on Genetic Services Definition Southern Center for Communication, Health and Policy National Research Advisory Board present REGIONAL AND STATE ACTIVITIES: Georgia Partnership for Telehealth, Inc. {a 501(C)3 which oversees, operates and advances the State s comprehensive telehealth network (www.gatelehealth.org) } Board of Directors (appointed by Georgia s State Insurance Commissioner 10/07) 10/07 present Georgia State Genetics Advisory Council Chairman Re-elected Georgia Chapter, American Academy of Pediatrics Continuing Medical Education Committee, Fetus and Newborn Committee, Committee on Child Health Financing present Southern Genetics Group Chairman, Chair,

5 Curriculum Vitae Page 5 Southeastern Regional Genetics Group Board of Directors Executive Committee, Clinical Genetics Workshop Committee Co-Chair Chairman State Representative Teratogen Committee, Program Committee, Chair, SCIENTIFIC PEER REVIEW ACTIVITIES: EDITORIAL BOARDS emedicine:pediatrics, [an on-line textbook (www.emedicine.com/ped/index.shtml) ] Managing Editor, Genetics and Metabolic Diseases Section, present Dysmorphology and Clinical Genetics, Associate Editor, Manuscript Reviewer for Scientific Journals: Acta Geneticae Medicae et Gemellologiae, 1988 American Journal of Cardiology, 1988 American Journal of Human Genetics 2007 American Journal of Medical Genetics, 1988, 1989, 1990, 1991, 1992, 1993, 1994, 1995, 1996, 1999, 2000, 2002, 2003, 2004, 2005, 2006 Clinical Pediatrics, 1988 Dysmorphology and Clinical Genetics, 1987, 1988, 1989, 1990, 1992, 1993 Florida Health Care Journal 2001 Genetics in Medicine, 1999, 2000, 2001, 2002, 2003, 2004, 2005,2006, 2007 Journal of Clinical Epidemiology, 1999 Journal of Medical Genetics, 1992 Journal of Perinatology 2010, 2011 New England Journal of Medicine, 1991, 1992 Obstetrics and Gynecology, 1985 Research Grant Review Committees: United States Food and Drug Administration Office of Orphan Products Development Member, Metabolism II Grant Review Panel, 1998 Member, Metabolic Grant Review Panel, U.S. Army Medical Research and Materiel Command, Department of Defense, 1996 Neurofibromatosis Research Program Member, Scientific Peer Review Panel Clinical, Epidemiologic, Behavioral Research Grants,

6 Curriculum Vitae Page 6 National Institute of Health, National Center for Human Genome Research Member, Special Review Committee 01, Ethical Legal and Social Issues Study Section 1996 Biomedical Research Program, Clemson University and Greenville Hospital System Grant reviewer 1991 Heartland Regional Genetics and Newborn Screening Collaborative Network Grant reviewer, 2005 South Carolina Commission on Higher Education South Carolina Research Centers of Economic Excellence Review Board Endowed Professorship Program Grant Reviewer, 2006 & 2007 Scientific Programs Reviewed: American Society of Human Genetics Abstract Reviewer, 57thAnnual Meeting 2007 National Neurofibromatosis Foundation Annual Clinical Care Conference - Abstract Reviewer, 1989, 1990, 1992 International Clinical Care Conference Abstract Reviewer, 1991 Southern Society for Pediatric Research Coordinating Reviewer, Genetics Abstracts, 1990 Abstract Reviewer, Genetics 1991, 1992, 1993, 1994 United States Armed Forces Uniformed Services Pediatric Seminar Scientific Paper Competition, Bruton Award Judge, 1990 MEDICAL COLLEGE OF GEORGIA COMMITTEES: MCG Health System [ a new entity which oversees the hospital, clinics and physicians practice group] Board of Directors (elected by university-wide faculty vote) August 2010 present Audit Committee, MCG Health, Incorporated [non-profit corporation which operates MCG hospital and clinics] Board of Directors Joint Conference Committee of the Board of Directors ; Finance Committee of the Board of Directors ; Planning and Development Committee Executive Committee of the Board Executive Compensation Committee Audit Committee Committee on Trustees Quality and Safety Steering Committee

7 Curriculum Vitae Page 7 Performance Improvement Steering Committee Nurse Retention and Satisfaction Committee Physician Advisory Group, Cerner PowerChart Office Implementation (PowerChart Office SuperUser ) Physicians Practice Group (MCG s 365 member multi-specialty Faculty Practice Plan) Board of Trustees July 1, June 30,2010 Past Chair July 1, 2008 June 30, 2010 Chair Chair-Elect Secretary-Treasurer Executive Committee of Board of Trustees Interim Management Team (day-to-day operations of the group while we searched for a new CEO) 2/17/09 June 30, 2010 Patient and Family Centered Care Advisory Committee 2007 present Chair 2009 present Committee on Business Operations [oversees revenue cycle management for the Group] ; (Chair ) present Fringe Benefit Committee Chair, Pension Plan Subcommittee Ways and Means Committee, [oversees budgeting & Group s investments] (Chair ) Bylaws Committee Chair Ad hoc Revenue Distribution Plan Review Committee [revised our Incentive Plan] Chair MCG Hospital and Clinics, Medical and Dental Staff Organization Medical Executive Committee, Credentials Committee, Electronic Medical Record System Evaluation Committee, 1999 Enterprise-wide Scheduling/Managed Care Software Committee, 1999 MCG Children s Medical Center Medical Staff Organization Past President President President-Elect Credentials Committee Chair Medical Executive Committee Chair Bylaws Committee present Peer Review Committee

8 Curriculum Vitae Page 8 MCGHI/PPG Enterprise-wide Ambulatory Strategy Steering Committee 9/30/10 - present Georgia Health Sciences University Budget and Planning Committee 10/29/10 - present Georgia Health Sciences University Presidential Task Force on Strategic Planning 8/ present Georgia Health Sciences University School of Medicine Faculty Compensation Committee 5/1/2010 present Georgia Health Sciences University Faculty Senate Executive Committee 2010 present Faculty Forward Task Force 2/ Faculty Grievance Committee Faculty Promotion and Tenure Appeal Committee Educational Strategic Planning Committee Sub Committee on Biochemistry and Molecular Biology 2000 Academic Council Human Assurance Committee, Committee on Research Ethics Genetics Research Sub-Committee Internship Committee, School of Medicine, Robert Wood Johnson Generalist Physician Initiative Steering Committee, Residency Task Force, Generalist Physician Residency Curriculum Committee, Interdisciplinary Curriculum Committee, Graduate Medical Education Committee, Chair, Institutional Leave Subcommittee, 1990 Chair, OB-GYN Internal Residency Review Committee, 1994 Member, Internal Residency Review Committees - Family Medicine, Neurology Children's Medical Center Hospital Construction Planning Committee, Academic Support Committee, 1993 Graduate Medical Education Subcommittee for the LCME Self-Study, 1993 Dean's Research Committee,

9 Curriculum Vitae Page 9 Perinatal Morbidity and Mortality Committee, 1987 Human Genetics Institute, Executive Committee, Faculty Senator, Ad Hoc Phase 2 Genetics Curriculum Committee, Chairman, Graduate Medical Educational Subcommittee for the LCME Self-Study, 1986 Department of Pediatrics Committees: Executive Committee present Departmental Advisory Committee, present Visiting Professor Committee, 1998 present - Chair 2002 present Promotion and Tenure Committee 2007 present - Chair present Ambulatory Care Task Force, Advisory Committee to Interim Chairman, Pediatric Residency Training Program Director, Resident Continuity Clinic Committee, Pediatric Housestaff Committee, Chair, Practice Committee, Course Director, Departmental annual Continuing Education Course, Pediatric Update [currently held at Kiawah Island, SC] present GRANTS AND CONTRACTS : ( recent years) SPRANS (HRSA/BMCHRD) Grant (through SERGG) Outcomes Studies in Clinical Genetics Clarke County (Athens, GA) Health Dept. Genetics Outreach Clinic Service Contract, present University of South Carolina, Columbia, Genetic Counseling Preceptorship training support 1988 present NIH/National Human Genome Research Institute Lay and Expert Models of Gene-Environment Interaction C. Condit, PI,(UGA) Flannery, co-investigator: 10% salary support FY 07 & FY08 5% salary support FY09 & FY10

10 Curriculum Vitae Page 10 AWARDS/HONORS: US Department of Health and Human Services, Superior Performance Award, March, 1981 Department of Pediatrics, Medical College of Georgia Teacher of the Year, American Pediatric Society elected to membership January 1, 2005 SCIENTIFIC AND PROFESSIONAL SOCIETIES: American Academy of Pediatrics - Section on Genetics and Birth Defects American College of Medical Genetics (Founding Fellow) American College of Physician Executives American Medical Association American Pediatric Society American Society of Human Genetics Georgia Chapter, American Academy of Pediatrics International Neurofibromatosis Association - Charter Member Irish and American Paediatric Society Medical Association of Georgia Southern Society for Pediatric Research COMMUNITY ACTIVITIES: Augusta Preparatory Day School mentor for Senior Projects 1998, 1999, 2000 Governor's Task Force for Southern Wood Piedmont Company Area Residents, (Task Force investigated alleged toxic waste site for health impact on two lower socioeconomic neighborhoods) March of Dimes, Richmond-Columbia County (GA) Chapter Board of Directors Open Door Preschool (Augusta, GA) Medical Advisor Columbia University Class of th Reunion Planning Committee

11 Curriculum Vitae Page 11 PRESENTATIONS AT NATIONAL, REGIONAL and STATE MEETINGS: Scientific Research Papers - See Abstract List, Below presented abstracts are identified with an asterisk SCIENTIFIC MEETINGS CHAIRED and/or ORGANIZED: Southern Society for Pediatric Research New Orleans, Chairperson, Genetics Sub-Specialty Session 1991 Co-Chair, Genetics Sub-specialty Session 1993 Southeastern Regional Genetics Group Clinical Genetics Workshop Meeting Co-Chairman Chair Southern Genetics Group Moderator, Clinical Genetics Session July 13, 1991 Moderator, Clinic Genetics Session July 1992 Conference Organizer and Chairman July 1993 Conference Organizer and Chairman July 1998 International Neurofibromatosis Clinical Care Symposium Moderator, Panel: "International Experience in Diagnosis and Management" Washington, DC, October 5, 1991 National Neurofibromatosis Foundation Clinical Care Symposium Moderator: "Molecular Issues" and "Reports and Discussion on Points of Interest" Poster Discussion Sessions San Francisco, November, 14, 1992 American Society of Human Genetics (ASHG) Organizer/Coordinator for the Session: "Curbstone Consults" at the Annual Meeting: New Orleans, October, 1993 Montreal, October, 1994 Minneapolis, October, 1995 San Francisco, October, 1996 Baltimore, October, 1997 Denver, October, 1998 Curbstone Consultant - ASHG San Francisco 1999 Philadelphia 2000 San Diego 2001 Baltimore 2002 Los Angeles 2003 Toronto 2004 Salt Lake City 2005

12 Organizer and Moderator, Education Session, ASHG 2002 Annual Meeting, Baltimore Health Outcomes and Health Economics Research: Proving the Value of Clinical Genetics Oct 16, 2002 Moderator, Concurrent Platform Session ASHG 2007 Annual Meeting, San Diego Genetic Counseling and Clinical Services Oct 2007 VISITING PROFESSOR/INVITED SPEAKER: (recent years). Invited Speaker, Symposium on Cardinal Signs: Quintessential Criteria for the Diagnosis of Specific Malformation Syndromes, Joubert, Sotos, Russell-Silver syndromes, American College of Medical Genetics annual Meeting Miami, March 3, Invited Speaker, Panel on Ethics and New Medical Technology; Annual Meeting, Georgia Chapter of the American College of Physicians, June 10, 2001 Invited Panelist, The Ethics of Modern Genetics, presented by the Forum for Advancement of Interreligious Tolerance and Harmony, Augusta, GA April 16, 2002 Invited Speaker High Risk Baby Course at Altamaha Technical College Common Genetic Syndromes in Babies Jesup, GA Oct 22, 2003 Invited Speaker, Revisions in Evaluation and Management Code Documentation, and Opportunities for Genetic Counseling Codes, invited Workshop at American College of Medical Genetics Annual Meeting, Orlando, March 7,2004 Invited Speaker Ethical Dilemmas in Genetic Testing Lunch and Learn Seminar for Blue Cross Blue Shield of Georgia, Atlanta, July 15, 2004 Invited Speaker How New CPT Codes Are Developed and Approved American Academy of Professional Coders CSRA meeting May 26, 2005 Invited Speaker Genetic Testing for HHT at the Hereditary Hemorrhagic Telangiectasia Foundation Southeast Regional Conference, June 25, 2005 Invited Speaker Understanding Genetic Testing Lunch and Learn Seminar for Blue Cross and Blue Shield of Georgia, Atlanta, September 22, 2005 Invited Speaker Cardinal Signs- FG Syndrome American College of Medical Genetics Annual Meeting, San Diego, CA March 24, 2006 Invited Speaker Demystifying Dysmorphic Features and Tabloid Genetics at the 25 th Annual Perinatal Update Savannah, GA March 5 6, 2009 Invited Speaker Star Trek Comes to Georgia Telemedicine Today Hot Topics Roundtable at Georgia Chapter, American Academy of Pediatrics Fall Meeting, Atlanta, GA October 31, 2009.

13 Curriculum Vitae Page 12 Invited Speaker and collaborator Medical Genetics: Unique Needs in Telemedicine Policy at the NCC Telehealth Policy Development Meeting November , Amelia Island, FL sponsored by the National Coordinating Center for Regional Genetic and Newborn Screening Service Collaboratives Invited Speaker and Moderator Telehealth: The New Generation of Healthcare conference March 25-26,2010 Ritz-Carlton Lodge, Lake Oconee, GA Grand Rounds Columbus Regional Health System, Columbus, GA April 22, 2010 Telemedicine for Pediatric Care Grand Rounds, Phoebe Putney Health System Albany, GA April 28, 2010 Demystifying Dysmorphology ABSTRACTS: *1. Flannery, D.B., Hitchcock, E.S., & Mamunes, P.: Dietary management of PKU patients from birth using a phenylalanine-free product. 18th General Medical Conference of the Collaborative Study of Children treated for Phenylketonuria, Pacific Grove, California, March *2. Flannery, D.B., Phelan, M.C., & Mamunes, P.: Concurrence of hypothyroidism and hypochondroplasia in siblings. Annual Birth Defects Meeting, Birmingham, June *3. Flannery, D.B., Wolf, B., & Mueller, D.: A syndrome of atresia of the oropharynx with costovertebral and auricular anomalies. Proceedings of the Greenwood Genetics Center 2: 86-87, *4. Flannery, D.B., Pellock, J.M., Bousounis, D., Hunt, P.A., & Wolf, B.: Non-ketotic hyperglycinemia in retarded adult siblings. Am J. Hum. Genet. 34:52A, *5. Halloran, S.L., Flannery, D.B., Kodroff, M.B., & Wolf, B.,:Cheirolumbar dysostosis: A phenotype of pseudohypoparathyroidism. Am. J. Hum. Genet. 34:93A, *6. Awrich, P.D., Flannery, D.B., Robertson, L.W., & Mamunes, P.,: CHARGE Association anomalies in siblings. Am. J. Hum. Genet. 34:80A, Mesavage, C., Nance, C.S., Flannery, D.B., Weiner, D.L., Suchy, S.F., & Wolf, B.: Glycine/serine ratios in amniotic fluid for the prenatal diagnosis of non-ketotic hyperglycinemia. Am. J. Hum. Genet. 34:57A, Pellock, J.M., Flannery, D.B., Mamunes, P., & Robertson, L.W.; The fetal primidone syndrome, Ann. Neurol. 12:209, *9. Flannery, D.B., Goplerud, J.M., & Mamunes, P.: Excess of DZ twinning associated with 18q-syndrome. Presented at the Fourth International Congress on Twin Studies, London, June 28-July 1, *10. Flannery, D.B., Brown, J.A., Redwine, F.O., & Nance, W.E.: Antenatally detected twins with Klinefelter's syndrome. Presented at the Fourth International Congress on Twin Studies, London, England, June 28 - July 1, * = Platform or poster presentation at national or regional meeting

14 Curriculum Vitae Page 13 *11. Flannery, D.B.: Dolichospondylic dysplasia: Syndromic short stature with tall vertebral bodies. Proceedings of the Greenwood Genetics Center 3:96-97, *12. Mesavage, W.C., Suchy, S., Weiner, D., Flannery, D.B., Nancy, C.S., & Wolf, B.: Amino acids in amniotic fluid in the 13th to 23rd week gestation. Am. J. Hum. Genet. 35:48A, *13. Jackson-Cook, C., Flannery, D.B., Corey, L.A., & Brown, J.A.: The extra chromosome in trisomy 21: QFQ and NOR heteromorphisms in determining its parental origin and a possible explanation for its etiology. Am. J. Hum. Genet. 35:103A, Loveluck, R.J.B., & Flannery, D.B., Varicocele: A case of familial occurrence. Am. J. Hum. Genet. 35:103A, *15. Cohen, M.M., Schwartz, S., & Flannery, D.B.: Prenatal diagnosis for ataxia telangiectasia. Presented at the 22nd Annual Somatic Cell Genetics Meeting, Lake Placid, NY, January 16, *16. Flannery, D.B., & Kahler, S., Neural tube defects in trisomy 18. Proceedings of the Greenwood Genetics Center 4: , *17. Wilson, J.T., Leshner, R.T., Flannery, D.B., & Ghatak, N.R.: Fatal nemaline myopathy in one of monozygotic twins. Neurology 34 (Supplement 1):80, *18. Flannery, D.B., Jackson-Cook, C., & Bright, G.M.: Thyroid antibodies are associated with non-disjunction of chromosome 21. Am. J. Hum. Genet. 36:505, *19. Sax, C.M., Flannery, D.B., Dineen, M.K., & Brown, J.A.: Craniofrontonasal Dysplasia: A semi-lethal mutation with similarities to the mouse T-Locus. Am. J. Hum. Genet. 36:735, *20. Jackson-Cook, D.K., Flannery, D.B., Corey, L.A., Nanet, W.E., & Brown J.A.: The doublenor variant: A risk factor in trisomy 21. Am. J. Hum. Genet. 36:975, *21. Mihelick, K., Jackson-Cook, C., Hays, P., Flannery, D.B., & Brown, J.A.: Craniorachischisis in a fetus with familial satellited 4q. Am. J. Hum. Genet. 36:1055, *22. Flannery, D.B., McGowan, J., & Kanto, W.P.: Extending the time sequence of amnion disruption complex. Proc. Greenwood Genetic Center 5:150, Flannery, D.B., Byrd, J.R., Freeman, W.E., & Perlman, S.A.: Hypomelanosis of Ito: A cutaneous marker of chromosomal mosaicism. Am. J. Hum. Genet. 37:A93, Greenberg, M., Aliffi, V., Padilla, S., Foss, K.C., & Flannery, D.B.: Oto-Palatal-Digital Syndromes I & II: Allelism, not variable expression. Am. J. Hum. Genet. 37:A55, Kanto, W.P., & Flannery, D.B.: Genetic disorders and major congenital anomalies in a neonatal intensive care unit. Am. J. Hum. Genet. 37:A221, * = Platform or Poster Presentation at national or regional meeting

15 Curriculum Vitae Page 14 *26. Brown, D.A., & Flannery, D.B.: Familial occurrence of laryngomalacia and other anomalies. Clinical Research 34:240A, *27. Hulse, E., & Flannery, D.B.: New genetic and clinical observations in the Stevenson Syndrome. Clinical Research 34:241A, Flannery, D.B., & Kanto, W.P.: Is there a geneticist in the house? Clinical Research 34:256A, *29. Carl, G.F., Keen, C.L., Gallagher, B.B., Flannery, D.B., & Hurley, L.S.: Association between low blood manganese and epilepsy. Trans. Am. Soc. Neurochem 17:292, *30. Gallagher, B.B., Carl, G.F., Keen, C.L., Hurley, L.S., King., E., Murro, A.M., Flannery, D.B., & Littleton, W.H.: Low blood manganese and epileptic patients. Neurology 36: Supl 1: 129, *31. Flannery, D.B., & Howell, C.G.: Confirmation of the Riccardi Sign. Proceedings of the Greenwood Genetics Center :161, *32. Thomas, I.T., Cantu, E.S., Frias, J.L., Lafer, C.Z., & Flannery, D.B.: Pigmentary abnormalities and chromosomal mosaicism. Proceedings of the Greenwood Genetics Center 6:105, *33. Flannery, D.B.: The "Dysmorphology Detective" and the Indent-Kit. Proceedings of the Greenwood Genetics Center 6:132, Flannery, D.B., & Robinow, M: New Hypotheses for Twin Studies of Congenital Anomalies. Accepted for Presentation at the Fifth International Congress on Twin Studies, Amsterdam, September, King, S.C., & Flannery, D.B.: The Buccal Smear Should be Scrap(p)ed Am. J. Hum. Genet. 39:A119, *36. McKie, V.C., Roesel, R.A., Hommes, F.A., Watkins, D., Rosenblatt, D.S., & Flannery, D.B.: Clinical findings in an infant with methylcobalamin deficiency (cb1e Variant). Am. J. Hum. Genet. 39:A71, *37. Schler, A.C., & Flannery, D.B.: Legal issues in genetic evaluations of children being placed for adoption. Am. J. Hum. Genet 39:A182, *38. Flannery, D. B., & Jackson-Cook, C.K.: Thyroid antibodies are an independent risk factor for non-disjunction of chromosome 21. Am J. Hum. Genet. 39:A113, *39. Thomas, I.T., Cantu, E.S., Frias, J.L., Lafer, C.Z., & Flannery, D.B.: Pigmentary anomalies and chromosomal mosaicism. Am. J. Hum. Genet. 39:A84, *40. Edwards, B.O., & Flannery, D.B.: Video presentation of a child with Joubert Syndrome. Clinical Research 35:60A, * = Platform or Poster Presentation at national or regional meeting

16 Curriculum Vitae Page 14 *41. Flannery, D.B., & Peterson, S.L.: Practice Analysis of Dysmorphology Databases. Am. J. Hum. Genet. 41:A58, *42. Kristjansson, K., & Flannery, D.B.: Genetic Aspects of Joubert Syndrome in Georgia. Program of the Annual Meeting of the Genetics Society of Georgia. November 21, *43. Flannery, D.B., & Toriello, H.V.: Terata and Tabloids. Proceedings of the Greenwood Genetics Center 7: , *44. Flannery. D.B., Edwards, B.O., Fischer, A.Q., & Brudno, D.S.: Phenotype and Physiology in Joubert Syndrome, Proceedings of the Greenwood Genetics Center 7:180, *45. Kristjansson, K., Flannery, D.B., & Francis, G: Possible Dose-Response in Primidone Teratogenicity. Clin. Res. 36:59A, Ussery, T.W., Arensman, F.W., Flannery, D.B., Harmon, J.D., Guill, M.F., Leffell, M.S., Bell, R.A., & Strong, W.B.: Noncardial defects associated with tetralogy of Fallot and truncus arteriosus. Pediatr Res 23:226A, *47. Flannery, D.B., Lafer, Z., & Roesel,R.A.: Methylmalonic Aciduria Produced by Hirschprung's Disease. Proceedings of Greenwood Genetics Center 8:22, *48. Flannery, D.B., Billingsly, G., Smith, A.T., & Pierce, K. L.: A New Feature in the Single Maxillary Central Incisor-Holoprosencephaly Syndrome. Proceedings of Greenwood Genetics Center 8:192, *49. Flannery, D.B., Ussery, T.W., Harmon, J.D., & Arensman, F.W.: Cephalic Neural Crest Developmental Field Defect in Children with Conotruncal Cardiac Malformations. Am. J. Hum. Genet. 43:A49, * = Platform or Poster Presentation at national or regional meeting 50. Brudno, D.S., & Flannery, D.B.: "Joubert Syndrome: a unique human model of disordered regulation of respiration,". Pediatric Pulmonology 5:260, *51. Ussery, T.W., Arensman, F.W., Leatherbury, L, Flannery, D.B., Harmon, J.D., Guill, M.F., Leffell, M.S., Bell, R.A., & Strong, W.B.: Noncardiac defects associated with conotruncal abnormalities-further implications of neural crest influence. Journal of the American College of Cardiology 13:118 A, *52. Hersh J.H., Rees A.H., Bloom, A.S. Flannery D.B., & Solinger R.E.: Cardiac Malformations in Trisomy 18 and 13: Specificity or Non-Specificity? Proceedings of the Greenwood Genetics Center 9:68-69, *53. Flannery D.B., Byrd J.R., Byrd L.K, & Pantazis C.: Prospective Cytogenetic Study of 10 patients with hypomelanosis of Ito. Pediatric Research 27:68A, Flannery D.B., Southgate M., Hoffman, W.H., Schwartz C.E., Phelan M.C., & White P.C.: Concurrent expression of three genetic disorders in one child: Implications for gene assignment for craniometaphyseal dysplasia and microcolon, megacystis syndrome. Am. J. Hum. Genet. 47:A56, * = Platform or Poster Presentation at national or regional meeting

17 Curriculum Vitae Page 15 *55. Flannery D.B., Byrd J.R., Byrd L.K, & Pantazis C: Prospective Studies of 11 patients with Hypomelanosis of Ito. Proceedings of the Greenwood Genetics Center 10:81, *56. Flannery D.B., Leatherbury, L.: A Second Family with the Syndrome of Preauricular Pits, Characteristic Facies, Clinodactyly and Tetralogy of Fallot, (Southern Genetics Group). Proceedings of the Greenwood Genetics Center 12:133, *57. Flannery D.B.: Tale of a Nail, (D.W. Smith Workshop) Proceedings of the Greenwood Genetic Center 12: *58. Harrison J.B., Faucett A., Hemphill J.M., Flannery D.B., & Smith J.L.: Rare Pure Partial Trisomy of Distal 8q. Am. J. Hum. Genet. 53:A557, *59. Flannery D.B., Hudson J.G.: A Survey of Joubert Syndrome, (D.W. Smith Workshop). Proceedings of the Greenwood Genetics Center 14:94, *60. Flannery D.B., Holoprosencephaly, Single Central Incisors (SCI), and Choanal Stenosis- Pleiotropy, Developmental Field, or a New Syndrome?, Proceedings of the Greenwood Genetic Center 15: , *61. Pellegrino J.E., Flannery D.B., Zachai E.H., Muenke M., Chance P.F.: Clinical and Molecular Analysis in Joubert Syndrome. Am. J. Hum. Genet. 57:A99, *62. Flannery D.B.: The Meaning of Mosaicism in Hypomelanosis of Ito. Ped Research 39:82A, *63. Flannery D.B., Radtke H.B., & Barefield C.R.: Telemedicine for delivery of clinical genetics services - Experience at the Medical College of Georgia. Am. J. Hum Genet. 59:A57, *64. Flannery D.B, Radtke, H.D., Moon, S., Barefield, C.R.: Long-term follow-up of Telemedicine Genetic Services. AJHG 61:A220, *65. Radtke, H.B., Kass, D.A., Flannery, D.B.: Genetic counseling for Advanced Paternal Age -Need for practice guidelines. AJHG 61:A191, *66. Kulharya, A.S., Garcia-Heras, J., Radtke, H.B., Norris, K.S., Keppen, L.D., Flannery, D.B.: Prenatal diagnosis of non-mosaic trisomy 17p derived from a non-mosaic satellited marker. AJHG 61:A126, *67. Baldwin, L., Flannery, D., Drakel, H., Grigsby, R.K.: The Use of Telemedicine in Genetic Counseling., Proceedings of the Greenwood Genetic Center 17: , *68. Flannery, D., Radtke, H.: Osteophathia Striata with Cranial Sclerosis: Experience of Two Families., Proceedings of the Greenwood Genetic Center 18: *69. Farrer, J.R., Reddy, K.S., Flannery, D.B., A microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum, Am J. Human Genet. 63:A104, * = Platform or Poster Presentation at national or regional meeting

18 Curriculum Vitae Page 16 *70. Radtke, H.B., Kulharya, A.S., Flannery, D.B., First observation of 46,XY, dup(8)(pterq24.3::p11.2pter). Am J Human Genet 63:A148, *71. Kulharya, A.S., Flannery, D.B., Salbert, B.A., Norris, K.S., Larrison, P.J., Cook,L., Transfusions do not affect karyotypic results in newborns, Am J Human Genet. 63:A141, *72. Mohapatra, A.M., Flannery, D.B., Hall, B.D.,Confirmation of the microcephaly/micromelia syndrome, Canadian Cree Indian type: Report of a sporadic male case of African-American heritage. J Investigative Medicine 47:.A114, *73. Flannery,DB, Radtke HB, Norris KS, Kulharya AS. First Report of an unstable marker chromosome in a child with attention deficit disorder. Am J Human Genet 65:A *74 Kozel ST, Radtke H, Mills-Lovell C, Ferrang C, Flannery DB. Client-defined outcomes for genetic services. Am J Human Genet 65:A *75 Flannery DB, Kozel ST, Waller JL, Ramage BM, Pullen G. Comparing satisfaction with clinical genetic services to other health services using a standardized survey, the CSQ-8. Genetics in Medicine 2:64, 2000 *76 Flannery DB, Lovell CM, Jalal SM, Kulharya AS. Inverted 6p21.3p25p25 duplication in a child with bilateral hearing loss. Am J Human Genet 67:142, 2000 *77 Kulharya AS, Lovell CM, Flannery DB An unusual mosaic karyotype derived from a familial t(11;22) in a male with developmental delay. Am J Human Genet 67:145, 2000 *78 Lovell CM, Kulharya AS, Hoffman WH, Flannery DB. Three cases of unique duplication of the long arm of chromosome 2. Am J Human Genet 67:148, 2000 *79 Flannery DB, Hilton ME. Projected cost savings resulting from DNA testing in individuals at risk for von Hippel-Lindau disease: A cost-minimization analysis applicable to other disorders. Genetics in Medicine 3:244, *80 Wood TC, Flannery D, Kottra J, Longshore J, Taylor H. Biochemical and molecular analysis of a patient with congenital disorder of glycosylation type IA. Am J Hum Genet 69:488, 2001 *81 Flannery DB, Delany SM, Bollag RJ. Argininosuccinate lyase mutations identified in a population isolate: opportunity for, and obstacles to, group-wide prevention of recurrence. Genetics in Medicine 4:182, *82 Kulharya AS, Delany SM, Flannery DB. Partial trismy 22 resulting from an extra chromosome 22 with an interstitial deletion. Am J Human Genet. 71:295, 2002 *83 Flannery DB, Delany SM, Kulharya AS. A dic(19) chromosome with an interstitial duplication of 19p13.1 in a patient with hypotonia and mild dysmorphic features. Am J Human Genet 71:292, 2002 * = Platform or Poster Presentation at national or regional meeting

19 Curriculum Vitae Page 17 *84 Flannery DB, DeLany SM, Kulharya AS. A de novo intrachromsomal inverted duplication of chromosome 18 with deletion of subtelomeric region in a newborn with severe congenital anomalies. Am J Human Genet 73:302, 2003 *85 Kulharya A, DeLany SM, Flannery DB Two unrelated patients with rare interstitial deletion of 9q with mild dysmorphic features. Am J Human Genet 179, 2004 *86 Kulharya AS, Flannery DB, Norris K, Lovell CM, Levy B, Velagaleti GVN. Fine breakpoint mapping using Affymetrix 500K array of 2 unrelated patients with rare de novo overlapping interstitial deletions of chromosome 9q Presented at the annual meeting of The American Society of Human Genetics, October 25, 2007, San Diego, California. Available from 87 Wilhem S, Coulson H, Sharma S, Flannery DB, Rojiani A Propionic Acidemia: Neuropathologic Features and Review of the Literature.Submitted to the EIGHTY-SEVENTH ANNUAL MEETING OF THE AMERICAN ASSOCIATION OF NEUROPATHOLOGISTS, Seattle, WA June Sekul, EA, Strickland, SM, Flannery, DB, Figueroa,RE, Vanderver, AL. Episodic Leukoencephalopathy with Novel Mitochondrial Complex I NDUFV1 Gene Mutations Mimicking Vanishing White Matter Disease Submitted to the Child Neurology Society 40th Annual Meeting October 26-29, 2011 Savannah, Georgia * = Platform or Poster Presentation at national or regional meeting PUBLICATIONS: 1. Flannery, D.B.: Mitochondrial Inheritance and Myotonic Dystrophy. Lancet 2:1050, Newman, S.L., Flannery, D.B., & Caplan, D.B.: Simultaneous Occurrence of Extrahepatic Biliary Atresia and Fetal Alcohol Syndrome. Am. J. Dis. Child. 133:101, Flannery, D.B.: Parents' Knowledge about Acetaminophen. J. Pediatr. 98:851, Flannery, D.B., & Wiles, H.: Follow-up of Survivor of Intrauterine Lightening Exposure. Am. J. Obstet. Gynecol. 142: , Flannery, D.B., & Wolf, B.: Prenatal Diagnosis of Glycine Encephalopathy. N. Engl. J. Med., 306: , Pope, T.L., Jr., Teague, W.G., Cossack, R., Bray, S.T., & Flannery, D.B.: Pseudomonas Sacroiliac Osteomyelitis: Diagnosis by Gallium Scan. Am. J. Dis. Child. 136: , Flannery, D.B., Hsia, Y.E., & Wolf, B.: Current Status of Hyperammonemic Syndromes. Hepatology 2: , 1982.

20 Curriculum Vitae Page Flannery, D.B.: Respiratory syncytial viral infections in congenital heart disease, in Down syndrome. N. Engl. J. Med. 307:1712, Flannery, D.B.: Possible Match for Case Report 99. J. of Clinical Dysm 1:3, Flannery, D.B.: Diagnosis of Down Syndrome. J. Pediatr. 102:166, Mesavage, C., Nance, C.S., Flannery, D.B., Weiner, D.L., Suchy, S.F., & Wolf, B.: Glycine/serine ratios in amniotic fluid: An unreliable indicator for prenatal diagnosis of nonketotic hyperglycinemia. Clin. Genet. 23: , Flannery, D.B., Pellock, J., Bousounis, D., Hunt, P., Nance, C., & Wolf, B.: Nonketotic hyperglycinemia in two retarded adults: A mild form of infantile nonketotic hyperglycinemia. Neurology 33: , Flannery, D.B., Hitchcock, E., & Mamunes, P.: Dietary management of phenylketonuria from birth using a phenylalanine-free product. J. Pediatr. 103: , Halloran, S.L., Flannery, D. B., Kodroff, M.B., & Wolf, B., : Cheirolumbar dysostosis: A phenotype of pseudohypoparathyroidism. Skeletal Radiology 10:161-4, McCormac, R.M., Flannery, D.B., Nakoneczna, I., & Kodroff, M.B.: Short rib-polydactyly syndrome, type II (Majewski syndrome): A case report. Pediatr. Pathology 2: , Flannery, D.B., et al: Antenally Detected Klinefelter's Syndrome in Twins. Acta Genet. Med. Gemellol. 33:51-57, Schwartz, S., Flannery, D.B., & Cohen, M.M.: Tests appropriate for the prenatal diagnosis of Ataxia Telangiectasia. Prenatal Diagnosis 5:9-14, Flannery, D.B., Piussan, C., & Wright, L.E.: Dermatoglyphics in Borjeson-Forssman-Lehmann Syndrome. Am. J. Med. Genet. 21: , Mesavage, W.C., Suchy, S.F., Weiner, D.L., Nance, C.S., Flannery, D.B., & Wolf, B.: Amino acids in amniotic fluid in the second trimester of gestation. Pediatr. Res. 19: , Flannery, D.B., & Holzmann, G.B.: Prenatal Testing and Twinning, Clinical Genetics 28: , Lammer, E.J., Flannery, D.B., & Barr, M.: Does isotretinoin cause limb reduction defects? Lancet 2:328, Jackson-Cook, C.K., Flannery, D.B., Corey, L.A., Nance, W.E., & Brown, J.A.: Nucleolar organizer region variants as a risk factor for Down syndrome. Am. J. Hum. Genet 37: , Arensman, F.W., Boineau, J.P., Balfour, I.C., Flannery, D.B., & Moore, H.V.: Sinus venosus atrial septal defect and pacemaker requirement in a family. Am. J. Cardiol. 57: , 1986.

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