CURRICULUM VITAE ET STUDIORUM. Prof. Sandro Banfi

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1 CURRICULUM VITAE ET STUDIORUM Prof. Sandro Banfi 1

2 CURRICULUM VITAE ET STUDIORUM Sandro Banfi, M.D. Data e luogo di nascita : 3 Giugno 1964, Napoli, Italia Cittadinanza : Italiana Lingue : Italiano, Inglese Stato civile : Coniugato Indirizzo : Napoli, ITALIA Posizione attuale : Professore Associato, Genetica Medica Dipartimento di Biochimica, Biofisica e Patologia Generale, Seconda Universita degli Studi di Napoli Ricercatore ( Associate Investigator ) Telethon Institute for Genetics and Medicine (T.I.GE.M.). Via Campi Flegrei, 34, Pozzuoli (NA), ITALIA 2

3 STUDI Anno Istituto Titolo conseguito 1983 Liceo G. De Bottis, T. del Greco (NA) Maturita classica II Facolta di Medicina e Chirurgia Universita di Napoli II Facolta di Medicina e Chirurgia Universita di Napoli Laurea in Medicina ottenuta con lode e menzione alla carriera Abilitazione professionale 1993 Clinica Neurologica, Universita di Napoli Specializzazione in Neurologia ottenuta con lode ESPERIENZE PROFESSIONALI Attività prelaurea Internato prelaurea in Neurologia presso l Istituto di Neurologia, II Facolta di Medicina, Universita di Napoli, Italia; Direttore: Prof. G. Campanella Supervisore: Dr. A. Filla. Attività postlaurea Formazione postlaurea in Neurologia presso l Istituto di Neurologia, II Facolta di Medicina, Universita di Napoli, Italia; Direttore: Prof. G. Campanella Supervisore: Dr. A. Filla. 2/91-8/91 Formazione postlaurea presso l Istituto di Genetica Molecolare, II Facolta di Medicina, Universita di Napoli, Italia; Direttore: Prof. S. Varrone Supervisore: Dr. S. Cocozza. 9/91-4/92 Postdoctoral fellow presso il Department of Pediatrics, Baylor College of Medicine, Houston, Texas; Professore e Direttore: R.D. Feigin; Supervisore: Dr. H.Y. Zoghbi. 5/ Research Associate presso il Department of Pediatrics, Baylor College of Medicine, Houston, Texas; Professore e Direttore: R.D. Feigin; Supervisore: Dr. H.Y. Zoghbi. Dal 1995 Ricercatore presso il Telethon Institute for Genetics and Medicine (T.I.GE.M.) Direttore: Prof. A. Ballabio Dal 2004 Dal 2005 Docente della Scuola Superiore Europea di Medicina Molecolare (SEMM) Coordinatore del Programma di Dottorato di Ricerca Internazionale in Genetica umana in convenzione con la universita britannica Open University 3

4 Dal 2008 Dal 2008 Dal 2011 Dal 2012 Docente del Corso di Dottorato in Genetica Medica della Seconda Universita degli Studi di Napoli. Docente del Corso di Dottorato in Biologia Computazionale e Bioinformatica della Universita Federico II di Napoli. Ricercatore Universitario, Genetica Medica, Seconda Universita degli Studi di Napoli. Professore Associato, Genetica Medica, Seconda Universita degli Studi di Napoli. Premi Scientifici 1990 Vincitore della borsa di studio associata alla Scuola di Specializzazione in Neurologia, Universita degli Studi di Napoli Board of Director Awards dalla Fondazione statunitense FFB (Foundation Fighting Blindness). ATTIVITA SCIENTIFICA Attività di revisore per riviste internazionali Attività svolta per le seguenti riviste scientifiche: Genomics Journal of Medical Genetics Clinical Genetics European Journal of Human Genetics Genesis Genome Research Genomics Gene Human Genetics Human Molecular Genetics Trends in Biochemical Sciences Investigative Ophthalmology & Visual Science (IOVS) British Journal of Ophthalmology BMC Genomics BMC Molecular Biology BMC Developmental Biology BMC Medical Genetics Molecular Therapy Molecular Vision PLoS ONE PLoS Genetics 4

5 Affiliazioni a società scientifiche American Society of Human Genetics (ASHG) Association for Research in Vision and Ophthalmology (ARVO) European Society of Human Genetics (ESHG) Societa Italiana di Genetica Umana (SIGU) Bioinformatic Italian Society (BITS) Comunicazioni orali a congressi e seminari su invito 1. "Cloning of the SCA1 critical region in overlapping YAC clones" International workshop on the molecular genetics of Friedreich s and dominant ataxias, Capri, Italia, Giugno "Characterization of the gene causing type 1 spinocerebellar ataxia and identification of the murine homolog" Annual meeting of the American Society of Human Genetics, Montreal, Canada, Ottobre "Identification and mapping of human ESTs homologous to Drosophila mutant genes: a source of candidate genes for human inherited diseases" 28th Annual Meeting of the European Society of Human Genetics (ESHG), Londra, UK, Aprile, "Identificazione e caratterizzazione sistematica di cdna umani e murini omologhi a geni mutati in Drosophila" Seminario nell ambito della Scuola di Specializzazione in Genetica Medica, Universita di Pavia, Pavia, Italia, Luglio "Identification and characterization of human and murine cdnas homologous to Drosophila mutant genes" Department of Human Genetics, University of Newcastle upon Tyne, UK, 2 Ottobre "Identificazione e caratterizzazione sistematica di cdna umani e murini omologhi a geni mutati in Drosophila" XI Congresso Nazionale FISME, Spoleto, Italia, 9-12 Ottobre "DRES: Drosophila-related expressed sequences" Finding genes: computational analysis of DNA sequences, The Banbury Center, Cold Spring Harbor Laboratory, USA, Marzo "Strategie applicative per la localizzazione e l identificazione di geni responsabili di malattie ereditarie" Istituto di Fisica Generale Applicata, Universita di Milano, 12 Maggio "Identification and characterization of human and murine homologs of Drosophila eye mutant genes" EU meeting on Genetics of Macular degeneration, Amsterdam, Giugno

6 10. "Systematic sequence, mapping, and expression analysis of human and murine Drosophila-related expressed sequences (DRES)" VI Telethon Scientific Convention, Bologna, Italia, Dicembre "Drosophila-related expressed sequences (DRES)" 2nd International Beutenberg Symposium: Genome analysis: strategies, medical and industrial applications, Jena, Germania, Dicembre "DRES93, un nuovo gene omeotico umano altamente espresso in retina embrionale, e un candidato per malformazioni oculari" I Congresso Nazionale SIGU, Spoleto, Italia, 30 Settembre - 3 Ottobre "Drosophila-related expressed sequences: a source of genes of high biological interest" Course on "Developmental biology and dysmorphology", Sestri Levante (Genova), Italia, Novembre "Progress in identifying human homologues of Drosophila genes" European Science Foundation (ESF) Meeting Genetic and environmental aetiology of the development eye defects microphthalmia, anophthalmia and coloboma (MAC), Glasgow, UK, September "Characterization of Vax2, a novel homeobox gene controlling the patterning of the eye dorso-ventral axis: a candidate gene for eye malformations" VIII Telethon Scientific Convention, Rimini, Italia, Novembre "EST data mining: a valuable tool to identify genes of high biological interest" J.W. Goethe Universität, Frankfurt, Germania, 16 Dicembre "Expressed Sequence Tags (EST): una risorsa preziosa per identificare geni di alto interesse biologico" Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi di Brescia, Brescia, Italia, 3 Aprile "Bioinformatica: dalle sequenze di DNA e proteine alla struttura e funzione dei costituenti cellulari" II Mostra Convegno Biotecnologie e Bioingegneria, Padova, Italia, 28 Novembre - 1 Dicembre "Systematic identification and characterisation of eye expressed transcripts" 15th IIGB Meeting, Capri, Italia, Ottobre "Systematic identification and characterization of eye-expressed transcripts: novel candidate genes for eye diseases" CNR-ITB, Milano, Italia, 12 Febbraio "VAX genes and their possible role in eye coloboma" European Science Foundation Workshop Investigation of the genetic aetiology of the developmental eye defects - microphthalmia, anophthalmia and coloboma (MAC), Sorrento, Italia, Marzo

7 22. "EURExpress: A European project for large scale gene expression analysis by RNA in situ hybridization" 16th Course in Medical Genetics, European School of Genetic Medicine, Bertinoro (Bologna), Italia, Marzo "Systematic identification and characterization of eye-expressed transcripts: novel candidate genes for eye diseases" Dip. Patologia Umana ed Ereditaria, Sez. Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italia, 11 Maggio "Antisense transcripts associated with eye transcription factor genes: new players in eye development?" European Science Foundation Workshop, Sorrento, Italia, Marzo "Utilizzo di banche dati di sequenze per identificare nuovi geni implicati nello sviluppo e nella funzione del sistema visivo" Clinica Neurologica, Universita di Napoli Federico II, Napoli, Italia, 24 Febbraio "DG-CST (Disease Gene Conserved Sequence Tags), a database of human mouse conserved elements associated to disease genes" Italian/Canadian International Collaborations in Genetics Workshop, Toronto University, Toronto, Canada, 25 Ottobre "Natural antisense transcripts (NATs) associated to genes involved in eye development" EVER 2004, European Association for Vision and Eye Research, Vilamoura, Portogallo, Settembre Recenti progressi in neurogenetica. Seminario nell ambito del Corso di Neurologia e Neuropsichiatria infantile della Scuola di Specializzazione in Pediatria, Universita di Napoli Federico II, 3 Dicembre 2004, Napoli, Italia. 29. "Natural antisense transcripts (NATs) associated with genes involved in eye development" Annual Meeting of the European Society of Human Genetics, Praga, Czech Republic, 7-10 Maggio "Identification of non-coding RNAs with a potential role in eye development and function" Dipartimento di Genetica e Biologia Molecolare, Universita di Roma La Sapienza, Roma, 17 Maggio "Functional genomic approaches aimed at a better understanding of eye development and function." Dutch Human Genetics Society Meeting, Theme Genomic variation in complex disorders, Utrecht, Paesi Bassi, 24 Novembre "Non-coding RNAs involved in eye development and function." Workshop on Systems Neurobiology, International School for Advanced Studies, Trieste, Dicembre, "La genetica dell amaurosi congenita di Leber." Lettura magistrale nell ambito del Seminario di ricerca Compromissione neurological neurologica e sistemica nelle 7

8 distrofie retiniche ereditarie: nuovi orientamenti diagnostici e genetici, Eremo di Sant Alberto di Butrio Ponte Nizza (PV), 25 Giugno, "Non-coding RNAs with a potential role in eye development and function." Symposium on Trends in Human Genetics, Puri, Orissa, India, Agosto, "Microftalmo." Workshop su Malattie oftalmiche in eta pediatrica: distrofie e degenerazioni maculari, microftalmo e ptosi. Diagnosi clinica e di laboratorio. Ospedale Niguarda Ca Granda, MIlano, 26 Settembre, "EURExpress, un atlante globale di espressione genica dell embrione murino in via di sviluppo." X Congresso Nazionale Societa Italiana di Genetica Umana (SIGU), Montecatini Terme (PT), Novembre, "Dal genoma descrittivo al genoma funzionale." Seminario di Genetica Medica Geni, genomi e cromosomi Universita degli Studi di Roma Tor Vergata, Roma, 4 Dicembre, "Biologia molecolare delle degenerazioni retiniche ereditarie." Congresso Società Italiana Oftalmologia Genetica SIOG, Seconda Universita di Napoli, Napoli, 7 Dicembre, "Identification of non-coding RNAs with a potential role in eye development and function." Research Colloquium Hereditary Retinal Disorders Winter Term 2007/2008, University Eye Hospital Tuebingen, Tuebingen, Germania, 13 Dicembre, "micrornas involved in eye development and function." Workshop Stem Cells and small RNAs as Tools for Basic Science and Regenerative Medicine, Seconda Universita di Napoli, Napoli, 5-6 Febbraio, Il progetto EURExpress e altri approcci di analisi del trascrittoma nei mammiferi. Dipartimento di Genetica, Biologia e Biochimica dell Universita degli Studi di Torino, Torino, 4 Luglio Classificazione Molecolare delle Distrofie Retiniche e recenti progressi della Terapia Genica. Convegno Distrofie Retiniche Ereditarie: Il Punto Della Ricerca in Italia e All Estero, Alassio, 11 Ottobre, Terapia Genica, dal laboratorio al paziente: il modello TIGEM-SUN. II Congresso Societa Italiana Ogtalmologia Genetica Degenerazioni retiniche ereditarie: dalla diagnosi alla terapia genica, Firenze, 13 Dicembre MicroRNA target prediction by transcriptome data analysis. Conversazioni Biochimiche 2009 (XX Ciclo). Dottorato di Ricerca in Biochimica, Biologia Molecolare e Bioinformatica, Università degli Studi di Bari, Bari, 13 Giugno,

9 45. Classificazione molecolare delle distrofie retiniche in Italia. Convegno Amaurosi congenita di Leber: ieri, oggi, domani, Pavia, 20 Giugno, Insights into the role of micrornas in eye development and function. Workshop Advances on the molecular diagnosis and therapy of retinal dystrophies, Barcellona (Spagna), 10 Settembre, Genetica delle distrofie retiniche ereditarie. 27 Congresso Nazionale Societa Italiana di Oftalmologia pediatrica, Napoli, giugno L importanza della genotipizzazione. XVI Congresso Mondiale di Retina International, Stresa, giugno The role of non-coding RNAs in eye development and function. I Course in eye genetics. EuroMediterranean University Centre of Ronzano Bologna (Italy), September 24, Experimental and in silico approaches to elucidate the role of micrornas in eye function. XVI Telethon Scientific Convention, Palazzo dei Congressi Riva del Garda, March 8, Identification of micrornas involved in eye development and function. Seminari Interdipartimentali DBPCM DBBM IEOS, Torre Biologica, Via S. Pansini, 5, Napoli, The role of non-coding RNAs in eye development and function. II Course in eye genetics. EuroMediterranean University Centre of Ronzano Bologna (Italy), September 28, Malattie genetiche oculari: dal gene alla terapia. Diagnosi genetica e prevenzione. Presentazione nell ambito del Secondo Congresso Associazione Italiana Medici Oculisti (AIMO), Palazzo dei Congressi, Roma, 30 Settembre 1 Ottobre, Aspetti genetici dell Amaurosi congenita di Leber. Presentazione nell ambito del Quarto Congresso Nazionale della Societa Italiana Oftalmologia Genetica (SIOG), Centro Congressi Federico II, Napoli, 3 Dicembre, Gaining insights into the functional role of micrornas. Presentazione nell ambito del workshop Functional Genomics of Neurodegenerative Diseases (BrainTrain Workshop), International School for Advanced Studies (SISSA), Trieste, 3 Ottobre Gaining insights into the functional role of micrornas. Presentazione nell ambito del XV Congresso Nazionale Societa Italiana Genetica Umana (SIGU), Sorrento, Novembre Inference of microrna-regulated gene networks and functions by co-expression 9

10 analysis. Presentazione nell ambito dell International Worskhop in Systems Medicine, Linkoping (Svezia), 1-2 Dicembre Gaining insights into the functional role of micrornas. Seminario presso il Dipartimento di Scienze Biomediche, Universita di Modena e Reggio Emilia, 23 Aprile Introduction to microrna biogenesis, genome organization and genetics. Presentazione nell ambito dell Education Course MicroRNA and Ocular Disease 2013 The Association for Research in Vision and Ophthalmology (ARVO) Annual Meeting, 4 Maggio 2013, Seattle, Washington, USA. 60. Le basi molecolari delle distrofie retiniche: nuovi sviluppi. Presentazione nell ambito del V Congresso della Societa Italiana di Oftalmologia Genetica (SIOG), Firenze, 31 Maggio Identification of micrornas involved in eye development and function. Seminario presso il Department of Medical Genetics, University of Lausanne, 14 Giugno 2013, Losanna, Svizzera. 62. The role of non-coding RNAs in eye development, function and diseases. III Course in eye genetics, University Residential Center of Bertinoro (Bertinoro di Romagna, Italy), Ottobre Epigenomics and RD: Pathogenic Role of micrornas. Presentazione nell ambito del Symposium on hereditary retinal dystrophies: from bench to bed, Madrid, 6-7 Marzo, Malattie genetiche dell occhio. Presentazione nell ambito del Corso L impatto delle nuove tecnologie in genetica su ricerca e diagnostic, Lerici (SP), Aprile Noncoding RNAs regulating eye function. Presentazione nell ambito del Workshop Genes, Epigenetics and Evolution in Eye Development and Disease, Parador de Oropesa, Spain, 28 Settembre-1 Ottobre The role of micrornas in genetic diseases: an overview. Presentazione nell ambito del Meeting annuale della Societa Finlandese di Genetica Medica dal titolo MicroRNAs and Genetic Disease, Helsinki, 27 marzo Pubblicazioni Autore di oltre 110 pubblicazioni scientifiche internazionali peer-reviewed che presentano nel loro complesso i seguenti valori bibliometrici: -Impact Factor totale = Impact Factor medio = 8.6 -Numero totale di citazioni = 8288 (Google Scholar); -H-Index complessivo = 39 (Google Scholar) 10

11 Elenco pubblicazioni su riviste internazionali peer reviewed (esclusi abstract) 1. Filla A, De Michele G, Marconi R, Santorelli F, Trombetta L, Banfi S and Campanella G. Effects of thyrotropin-releasing hormone on heart rate in inherited ataxias. Med Sci Res 17, (1989). 2. Banfi S, Ledbetter SA, Chinault AC and Zoghbi HY. An easy and rapid method for the detection of chimeric yeast artificial chromosome clones. Nucleic Acids Res 20, 1814 (1992). 3. Cavalcanti F, Cocozza S, Filla A, De Michele G, Pianese L, Porcellini A, Monticelli A, Pandolfo M, Banfi S, Varrone S and et al. Friedreich's disease. A linkage study in southern and central Italia. Acta Neurol (Napoli) 14, (1992). 4. Banfi S, Chung MY, Kwiatkowski TJ, Jr., Ranum LP, McCall AE, Chinault AC, Orr HT and Zoghbi HY. Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb. Genomics 18, (1993). 5. Filla A, De Michele G, Orefice G, Santorelli F, Trombetta L, Banfi S, Squitieri F, Napolitano G, Puma D and Campanella G. A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia. Can J Neurol Sci 20, 52-5 (1993). 6. Kwiatkowski TJ, Jr., Orr HT, Banfi S, McCall AE, Jodice C, Persichetti F, Novelletto A, LeBorgne-DeMarquoy F, Duvick LA, Frontali M and et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. Am J Hum Genet 53, (1993). 7. Orr HT, Chung MY, Banfi S, Kwiatkowski TJ, Jr., Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP and Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 4, (1993). 8. Banfi S, Servadio A, Chung MY, Kwiatkowski TJ, Jr., McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT and Zoghbi HY. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 7, (1994). 9. Ranum LP, Chung MY, Banfi S, Bryer A, Schut LJ, Ramesar R, Duvick LA, McCall A, Subramony SH, Goldfarb L and et al. Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am J Hum Genet 55, (1994). 10. Filla A, De Michele G, Banfi S, Santoro L, Perretti A, Cavalcanti F, Pianese L, Castaldo I, Barbieri F, Campanella G and et al. Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 45, (1995). 11

12 11. Banfi S, Borsani G, Rossi E, Bernard L, Guffanti A, Rubboli F, Marchitiello A, Giglio S, Coluccia E, Zollo M, Zuffardi O and Ballabio A. Identification and mapping of human cdnas homologous to Drosophila mutant genes through EST database searching. Nat Genet 13, (1996). 12. Banfi S, Servadio A, Chung M, Capozzoli F, Duvick LA, Elde R, Zoghbi HY and Orr HT. Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Hum Mol Genet 5, (1996). 13. Guffanti A, Banfi S, Simon G, Ballabio A and Borsani G. DRES search engine: of flies, men and ESTs. Trends Genet 13, (1997). 14. Jackson FR, Banfi S, Guffanti A and Rossi E. A novel zinc finger-containing RNAbinding protein conserved from fruitflies to humans. Genomics 41, (1997). 15. Rubboli F, Bulfone A, Bogni S, Marchitiello A, Zollo M, Borsani G, Ballabio A and Banfi S. A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms. Genes Funct 1, (1997). 16. Banfi S, Guffanti A and Borsani G. How to get the best of dbest. Trends Genet 14, 80-1 (1998). 17. Bione S, Sala C, Manzini C, Arrigo G, Zuffardi O, Banfi S, Borsani G, Jonveaux P, Philippe C, Zuccotti M, Ballabio A and Toniolo D. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet 62, (1998). 18. Bulfone A, Gattuso C, Marchitiello A, Pardini C, Boncinelli E, Borsani G, Banfi S and Ballabio A. The embryonic expression pattern of 40 murine cdnas homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function. Hum Mol Genet 7, (1998). 19. de Conciliis L, Marchitiello A, Wapenaar MC, Borsani G, Giglio S, Mariani M, Consalez GG, Zuffardi O, Franco B, Ballabio A and Banfi S. Characterization of Cxorf5 (71-7A), a novel human cdna mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. Genomics 51, (1998). 20. Matilla A, Roberson ED, Banfi S, Morales J, Armstrong DL, Burright EN, Orr HT, Sweatt JD, Zoghbi HY and Matzuk MM. Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. J Neurosci 18, (1998). 21. Volorio S, Simon G, Repetto M, Cucciardi M, Banfi S, Borsani G, Ballabio A and Zollo M. Sequencing analysis of forty-eight human IMAGE cdna clones similar to Drosophila mutant protein. DNA Seq 9, (1998). 12

13 22. Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G and Franco B. Identification and characterization of AFG3L2, a novel paraplegin-related gene. Genomics 59, 51-8 (1999). 23. Barbieri AM, Lupo G, Bulfone A, Andreazzoli M, Mariani M, Fougerousse F, Consalez GG, Borsani G, Beckmann JS, Barsacchi G, Ballabio A and Banfi S. A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis. Proc Natl Acad Sci U S A 96, (1999). 24. Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V and Hanson I. EYA4, a novel vertebrate gene related to Drosophila eyes absent. Hum Mol Genet 8, (1999). 25. Piccini M, Vitelli F, Seri M, Galietta LJ, Moran O, Bulfone A, Banfi S, Pober B and Renieri A. KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs. Genomics 60, (1999). 26. Volta M, Bulfone A, Gattuso C, Rossi E, Mariani M, Consalez GG, Zuffardi O, Ballabio A, Banfi S and Franco B. Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. Genomics 55, (1999). 27. Buanne P, Corrente G, Micheli L, Palena A, Lavia P, Spadafora C, Lakshmana MK, Rinaldi A, Banfi S, Quarto M, Bulfone A and Tirone F. Cloning of PC3B, a novel member of the PC3/BTG/TOB family of growth inhibitory genes, highly expressed in the olfactory epithelium. Genomics 68, (2000). 28. Bulfone A, Menguzzato E, Broccoli V, Marchitiello A, Gattuso C, Mariani M, Consalez GG, Martinez S, Ballabio A and Banfi S. Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. Hum Mol Genet 9, (2000). 29. Coppola M, Pizzigoni A, Banfi S, Bassi MT, Casari G and Incerti B. Identification and characterization of YME1L1, a novel paraplegin-related gene. Genomics 66, (2000). 30. Bermingham NA, Hassan BA, Wang VY, Fernandez M, Banfi S, Bellen HJ, Fritzsch B and Zoghbi HY. Proprioceptor pathway development is dependent on Math1. Neuron 30, (2001). 31. Liu Y, Lupo G, A, Gestri G, He RQ, Banfi S and Barsacchi G. Expression of the Xvax2 gene demarcates presumptive ventral telencephalon and specific visual structures in Xenopus laevis. Mech Dev 100, (2001). 13

14 32. Barbieri AM, Broccoli V, Bovolenta P, Alfano G, Marchitiello A, Mocchetti C, Crippa L, Bulfone A, Marigo V, Ballabio A and Banfi S. Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Development 129, (2002). 33. Conte I, Lestingi M, den Hollander A, Miano MG, Alfano G, Circolo D, Pugliese M, Testa F, Simonelli F, Rinaldi E, Baiget M, Banfi S and Ciccodicola A. Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. Gene 297, 33-8 (2002). 34. Reymond A, Marigo V, Yaylaoglu MB, Leoni A, Ucla C, Scamuffa N, Caccioppoli C, Dermitzakis ET, Lyle R, Banfi S, Eichele G, Antonarakis SE and Ballabio A. Human chromosome 21 gene expression atlas in the mouse. Nature 420, (2002). 35. Saglio G, Storlazzi CT, Giugliano E, Surace C, Anelli L, Rege-Cambrin G, Zagaria A, Jimenez Velasco A, Heiniger A, Scaravaglio P, Torres Gomez A, Roman Gomez J, Archidiacono N, Banfi S and Rocchi M. A 76-kb duplicon maps close to the BCR gene on chromosome 22 and the ABL gene on chromosome 9: possible involvement in the genesis of the Philadelphia chromosome translocation. Proc Natl Acad Sci U S A 99, (2002). 36. Conte I, Lestingi M, den Hollander A, Alfano G, Ziviello C, Pugliese M, Circolo D, Caccioppoli C, Ciccodicola A and Banfi S. Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. Eur J Hum Genet 11, (2003). 37. Ferrante MI, Barra A, Truong JP, Banfi S, Disteche CM and Franco B. Characterization of the OFD1/Ofd1 genes on the human and mouse sex chromosomes and exclusion of Ofd1 for the Xpl mouse mutant. Genomics 81, (2003). 38. Lavorgna G, Lestingi M, Ziviello C, Testa F, Simonelli F, Manitto MP, Brancato R, Ferrari M, Rinaldi E, Ciccodicola A and Banfi S. Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. Biochem Biophys Res Commun 308, (2003). 39. Simonelli F, Cennamo G, Ziviello C, Testa F, de Crecchio G, Nesti A, Manitto MP, Ciccodicola A, Banfi S, Brancato R and Rinaldi E. Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. Br J Ophthalmol 87, (2003). 40. Bulfone A, Caccioppoli C, Pardini C, Faedo A, Martinez S and Banfi S. Pcp4l1, a novel gene encoding a Pcp4-like polypeptide, is expressed in specific domains of the developing brain. Gene Expr Patterns 4, (2004). 41. Criscuolo C, Banfi S, Orio M, Gasparini P, Monticelli A, Scarano V, Santorelli FM, Perretti A, Santoro L, De Michele G and Filla A. A novel mutation in SACS gene in a family from southern Italia. Neurology 62, (2004). 14

15 42. Criscuolo C, Mancini P, Sacca F, De Michele G, Monticelli A, Santoro L, Scarano V, Banfi S and Filla A. Ataxia with oculomotor apraxia type 1 in Southern Italia: late onset and variable phenotype. Neurology 63, (2004). 43. Alfano G, Vitiello C, Caccioppoli C, Caramico T, Carola A, Szego MJ, McInnes RR, Auricchio A and Banfi S. Natural antisense transcripts associated with genes involved in eye development. Hum Mol Genet 14, (2005). 44. Boccia A, Petrillo M, di Bernardo D, Guffanti A, Mignone F, Confalonieri S, Luzi L, Pesole G, Paolella G, Ballabio A and Banfi S. DG-CST (Disease Gene Conserved Sequence Tags), a database of human-mouse conserved elements associated to disease genes. Nucleic Acids Res 33, D (2005). 45. Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Sacca F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE and Filla A. Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation. J Neurol 252, (2005). 46. Criscuolo C, Mancini P, Menchise V, Sacca F, De Michele G, Banfi S and Filla A. Very late onset in ataxia oculomotor apraxia type I. Ann Neurol 57, 777 (2005). 47. Criscuolo C, Sacca F, De Michele G, Mancini P, Combarros O, Infante J, Garcia A, Banfi S, Filla A and Berciano J. Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. Mov Disord 20, (2005). 48. Sud R, Jones CM, Banfi S and Dawson SJ. Transcriptional regulation by Barhl1 and Brn- 3c in organ-of-corti-derived cell lines. Brain Res Mol Brain Res 141, (2005). 49. Vitiello C, D'Adamo P, Gentile F, Vingolo EM, Gasparini P and Banfi S. A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. Am J Med Genet A 133, (2005). 50. Ziviello C, Simonelli F, Testa F, Anastasi M, Marzoli SB, Falsini B, Ghiglione D, Macaluso C, Manitto MP, Garre C, Ciccodicola A, Rinaldi E and Banfi S. Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families. J Med Genet 42, e47 (2005). 51. Antonini D, Rossi B, Han R, Minichiello A, Di Palma T, Corrado M, Banfi S, Zannini M, Brissette JL and Missero C. An Autoregulatory Loop Directs the Tissue-Specific Expression of p63 through a Long-Range Evolutionarily Conserved Enhancer. Mol Cell Biol 26, (2006). 52. Criscuolo C, Chessa L, Di Giandomenico S, Mancini P, Sacca F, Grieco GS, Piane M, Barbieri F, De Michele G, Banfi S, Pierelli F, Rizzuto N, Santorelli FM, Gallosti L, Filla A, Casali C. Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study. Neurology 66, (2006). 15

16 53. Cremers FP, Kimberling WJ, Kulm M, de Brouwer A, van Wijk E, Te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, Debaere E, Leroy BP, Silvestri G, McKay G, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H. Development of a genotyping Microarray for usher syndrome. J Med Genet (2): Epub 2006 Sep Karali M, Peluso I, Marigo V, Banfi S. Identification and characterization of micrornas expressed in the mouse eye. Invest Ophthalmol Vis Sci., 48(2): (2007). 55. Testa F, Ziviello C, Rinaldi M, Rossi S, Di Iorio V, Interlandi E, Ciccodicola A, Banfi S, Simonelli F. Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene. Eur J Ophthalmol Sep-Oct;16(5): Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi PE, Fossarello M, Signorini S, Bertone C, Galantuomo S, Brancati F, Valente EM, Ciccodicola A, Rinaldi E, Auricchio A, Banfi S. Clinical and molecular genetics of Leber s congenital amaurosis (LCA): a multicenter study of Italian patients. Invest Ophthalmol Vis Sci., 48(9): (2007). 57. Costa V, Conte I, Ziviello C, Casamassimi A, Alfano G, Banfi S, Ciccodicola A. Identification and expression analysis of novel Jakmip1 transcripts. Gene, 402(1-2):1-8, Epub 2007 Jul Criscuolo C, Mancini P, Ammendola S, Cicala D, Banfi S, De Michele G, Filla A. Screening for POLG1 mutations in a Southern Italian ataxia population. J Neurol Mar;255(3): Epub 2007 Dec Trifunovic D, Karali M, Campogampiero D, Ponzin D, Banfi S, Marigo V. A highresolution RNA expression atlas of Retinitis Pigmentosa genes in the human and mouse retinas. Invest Ophthalmol Vis Sci 49(6): (2008). Epub 2008 Feb Maguire AM, Simonelli F, Pierce EA, Pugh EN Jr, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VA, Konkle B, Stone E, Sun J, Jacobs J, Dell Osso L, Hertle R, Ma J, Redmond TM, Zhu-X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Fraser Wright J, Volpe NJ, Wellman McDonnell J, Auricchio A, High KA, Bennett J. Vision in a Safety Study of Gene Transfer for Leber Congenital Amaurosis. N Engl J Med May 22; 358(21): Epub 2008 Apr Ginocchio VM, De Brasi D, Genesio R, Ciccone R, Gimelli S, Fimiani F, de Berardinis T, Nitsch L, Banfi S, Magli A, Della Casa R. Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly. Eur J Med Genet. 2008, 51(6): Epub 2008 Aug Maselli V, di Bernardo D, Banfi S. CoGemiR: A Comparative Genomics microrna database. BMC Genomics 2008, Oct 6;9:

17 63. Gennarino VA, Sardiello M, Avellino R, Meola N, Maselli V, Anand S, Cutillo L, Ballabio A, Banfi S. MicroRNA target prediction by expression analysis of host genes. Genome Res Mar;19(3): Epub 2008 Dec den Hollander A, McGee TL, Ziviello C, Banfi S, Dryja TP, Gonzalez-Fernandez F, Ghosh D, Berson E. A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (4): Epub 2008 Dec Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, de Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappatà S, De Michele G. Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study. J Neurol. 2009, 256(8): Epub 2009 Apr Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E and Ballabio A. A gene network regulating lysosomal biogenesis and function. Science, (5939): Epub 2009 Jun Grillo G, Turi A, Licciulli F, MignoneF, Liuni S, Banfi S, Gennarino VA, Horner DS, Pavesi G, Picardi E and Pesole G. UTRdb and UTRsite (release 2010): a collection of sequences and regulatory motifs of the untranslated regions of eukaryotic mrnas. Nucleic Acids Res. 2010, 38(Database issue):d Epub 2009 Oct Maguire AM, High KA, Auricchio A, Wright, F, Pierce EA, Testa F, Mingozzi F, Bennicelli J, Ying G, Rossi S, Fulton A, Marshall KA, Banfi S, Chung D, Morgan JIW, Hauck B, Zelanaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet 2009 Nov 7;374(9701): Epub 2009 Oct Simonelli F, Maguire AM, Testa F, Pierce EA, Mingozzi F, Bennicelli JL, Rossi F, Marshall K, Banfi S, Surace EM, Sun J, Redmond TM, Zhu X, ShindlerKS, Ying G, Ziviello C, Acerra C, Wright JF, McDonnell JW, High KA, Bennett J, Auricchio A. Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther Mar;18(3): Epub 2009 Dec Licastro D, Gennarino VA, Petrera F, Sanges R, Banfi S and Stupka E. Promiscuity of enhancer, coding and non-coding transcription functions in ultraconserved elements. BMC Genomics, 2010 Mar 4;11: De Cegli, R Romito A, Iacobacci S, Mao L, Lauria, M Fedele AO, Klose J, Borel C, Descombes P, Antonarakis SE, di Bernardo D, Banfi S, Ballabio A and Cobellis G. A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. Genome Biology 2010, 11:R64. 17

18 72. Bandah-Rozenfeld D, Collin RW, Banin E, Ingeborgh van den Born L, Coene KL, Siemiatkowska AM, Zelinger L, Khan MI, Lefeber DJ, Erdinest I, Testa F, Simonelli F, Voesenek K, Blokland EA, Strom TM, Klaver CC, Qamar R, Banfi S, Cremers FP, Sharon D, den Hollander AI. Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet Aug 13;87(2): Epub 2010 Jul Conte I, Carrella S, Avellino R, Karali M, Marco-Ferreres R, Bovolenta P, Banfi S. mir- 204 is required for lens and retinal development via Meis2 targeting. Proc Natl Acad Sci U S A Aug 31;107(35): Epub 2010 Aug Alfano G, Conte I, Caramico T, Avellino R, Arno B, Pizzo MT, Tanimoto N, Beck SC, Huber G, Dollé P, Seeliger M and Banfi S. Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye. Development (2): Epub 2010 Dec Diez Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, De Masi C, Bianchi SA, Cicchini J, Perroud E, Mehmeti S, Dagand E, Schrinner S, Nürnberger A, Schmidt K, Metz K, Zwingmann C, Brieske N, Springer C, Martinez-Hernandez A, Herzog S, Grabbe F, Sieverding C, Fischer B, Schrader K, Bürsing M, Schubert S, Helbig C, Alunni V, Battaini MA, Mura C, Henrichsen CN, Garcia-Lopez R, Echevarria D, Puelles E, Garcia-Calero E, Kruse S, Uhr M, Kauck C, Feng G, Milyaev N, Ong CK, Kumar L, Lam MS, Semple CA, Gyenesei A, Mundlos S,, Radelof U, Lehrach H, Sarmientos P, Reymond A, Davidson, DR, Dollé P, Antonarakis SE, Yaspo ML, Martinez M, Baldock RA, Eichele G, and Ballabio A. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (1):e Karali M, Peluso I, Gennarino VA, Bilio M, Verde R, Lago G, Dollé P and Banfi S. mirneye: a microrna expression atlas of the mouse eye. BMC Genomics Dec 20;11: Testa F, Surace EM, Rossi S, Marrocco E, Gargiulo A, Di Iorio V, Ziviello C, Nesti A, Fecarotta S, Bacci ML, Giunti M, della Corte M, Banfi S*, Auricchio A* and Simonelli F*. Evaluation of Italian Patients with Leber Congenital Amaurosis due to AIPL1 Mutations Highlights the Potential Applicability of Gene Therapy. Invest Ophthalmol Vis Sci Jul 29;52(8): *co-corresponding authors. 78. Gennarino VA, Sardiello M, Mutarelli M, Dharmalingam G, Maselli V, Lago G and Banfi S. HOCTAR database: a unique resource for microrna target prediction. Gene Jul 1;480(1-2):51-8. Epub 2011 Mar Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, and Gasparini P. Molecular Epidemiology of Usher Syndrome in Italy. Mol Vis. 2011;17: Epub 2011 Jun

19 80. Karali M, Manfredi A, Puppo A, Marrocco E, Gargiulo A, Allocca M, Della Corte M, Rossi S, Giunti M, Bacci ML, Simonelli F, Surace EM, Banfi S* and Auricchio A*. microrna-restricted Transgene Expression in the Retina. PLoS One. 2011;6(7):e Epub 2011 Jul 26. *co-corresponding authors. 81. Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; European Retinal Disease Consortium*, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC. Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. Am J Hum Genet Aug 12;89(2): *Sandro Banfi is part of this consortium. 82. Meola N, Pizzo M, Alfano G, Surace EM and Banfi S. The long non-coding RNA Vax2os1 controls the cell cycle progression of photoreceptor progenitors in the mouse retina. RNA Jan;18(1): Epub 2011 Nov Cotugno G, Annunziata P, Karali M, Banfi S and Auricchio A. Impact of age at administration, lysosomal storage, and transgene regulatory elements on AAV2/8- mediated rat liver transduction. PLoS One. 2012;7(3):e Epub 2012 Mar Gennarino VA, D Angelo G, Dharmalingam G, Fernandez S, Russolillo G, Sanges R, Mutarelli M, Belcastro V, Ballabio A, Verde P, Sardiello M and Banfi S. Identification of microrna-regulated gene networks by expression analysis of target genes. Genome Res Jun;22(6): Epub 2012 Feb Neri M, Valli E, Alfano G, Bovolenta M, Spitali P, Rapezzi C, Muntoni F, Banfi S, Perini G, Gualandi F and Ferlini A. The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy. BMC Medical Genetics 2012, 13: Testa F, Rossi S, Sodi A, Passerini I, Di Iorio V, Della Corte M, Banfi S, Surace EM, Menchini U, Auricchio A, Simonelli F. Correlation between Photoreceptor Layer Integrity and Visual Function in Patients with Stargardt Disease: Implications for Gene Therapy. Invest Ophthalmol Vis Sci Jul 3;53(8): Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D Eustacchio A, Pizzo M, D Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V. Molecular diagnosis of Usher syndrome: application of two different Next Generation Sequencing-based procedures. PLoS One. 2012;7(8):e Epub 2012 Aug 29. co-corresponding authors. 88. Estrada-Cuzcano A, Koenekoop R, Senechal A, De Baere E, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng C, Hamel C, Leroy B, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink K, Vingolo E, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin R.W.J., den Hollander A, Cremers F, Klevering B. BBS1 Mutations Underlie a Wide Spectrum of Phenotypes 19

20 Ranging from Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome. Arch Ophthalmol Nov 1;130(11): Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; European Retinal Disease Consortium*, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet Sep 7;91(3): Epub 2012 Aug 16. *Sandro Banfi is part of this consortium. 90. De Cegli R, Iacobacci S, Flore G, Gambardella G, Mao L, Cutillo L, Lauria M, Klose J, Illingworth E, Banfi S and di Bernardo D. Reverse engineering a mouse embryonic stem cell-specific transcriptional network reveals a new modulator of neuronal differentiation. Nucleic Acids Res Jan;41(2): doi: /nar/gks1136. Epub 2012 Nov Perrault I, Estrada-CuzcanoA, Lopez I, Kohl S, Li S, Testa F, Zekveld R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander A, Edelson C, Florijn R, JeanPierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers F, Gonzales-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet J-M. Union Makes Strength: A worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One. 2013;8(1):e doi: /journal.pone Epub 2013 Jan Testa F, Maguire AM, Rossi S, Pierce EA, Melillo P, Marshall K, Banfi S, Surace EM, Sun J, Acerra C, Wright JF, Wellman J, High KA, Alberto A, Bennett J and Simonelli F. Three Year Follow-Up after Unilateral Subretinal Delivery of Adeno-Associated Virus in Patients with Leber Congenital Amaurosis Type 2. Ophthalmology Jun;120(6): doi: /j.ophtha Epub 2013 Mar Sanges R, Hadzhiev Y, Gueroult-Bellone M, Roure A, Ferg M, Meola N, Amore G, Basu S, Brown E, De Simone M, Petrera F, Licastro D, Strähle U, Banfi S, Lemaire P, Birney E, Müller F, Stupka E. Highly conserved elements discovered in vertebrates are present in non-syntenic loci of tunicates, act as enhancers and can be transcribed during development. Nucleic Acids Res Apr 1;41(6): doi: /nar/gkt030. Epub 2013 Feb Shaham O, Gueta K, Mor E, Oren-Giladi P, Grinberg D, Xie Q, Cvekl A, Shomron N, Davis N, Keydar-Prizant M, Raviv S, Pasmanik-Chor M, Bell RE, Levy C, Avellino R, Banfi S, Conte I, and Ashery-Padan R. Pax6 Regulates Gene Expression in the Vertebrate Lens through mir-204. PLoS Genet Mar;9(3):e doi: /journal.pgen Epub 2013 Mar Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RWJ, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V,, Melone MAB, the European Retinal Disease Consortium, Simonelli F, Banfi S. The ADAMTS18 gene is responsible for 20

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