| Safety and efficacy of gene transfer for Leber's congenital amaurosis AM Maguire, F Simonelli, EA Pierce, EN Pugh Jr, F Mingozzi, J Bennicelli, ... New England Journal of Medicine 358 (21), 2240-2248, 2008 | 2739 | 2008 |
| Imitation costs and patents: an empirical study E Mansfield, M Schwartz, S Wagner The economic journal 91 (364), 907-918, 1981 | 2248 | 1981 |
| Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial S Russell, J Bennett, JA Wellman, DC Chung, ZF Yu, A Tillman, J Wittes, ... The Lancet 390 (10097), 849-860, 2017 | 2209 | 2017 |
| Identification of a gene that causes primary open angle glaucoma EM Stone, JH Fingert, WLM Alward, TD Nguyen, JR Polansky, ... Science 275 (5300), 668-670, 1997 | 1846 | 1997 |
| Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis JR Howe, S Roth, JC Ringold, RW Summers, HJ Järvinen, P Sistonen, ... Science 280 (5366), 1086-1088, 1998 | 1240 | 1998 |
| Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial AM Maguire, KA High, A Auricchio, JF Wright, EA Pierce, F Testa, ... The Lancet 374 (9701), 1597-1605, 2009 | 1114 | 2009 |
| The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions VC Sheffield, JS Beck, AE Kwitek, DW Sandstrom, EM Stone Genomics 16 (2), 325-332, 1993 | 963 | 1993 |
| Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics AV Cideciyan, TS Aleman, SL Boye, SB Schwartz, S Kaushal, AJ Roman, ... Proceedings of the National Academy of Sciences 105 (39), 15112-15117, 2008 | 848 | 2008 |
| Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years SG Jacobson, AV Cideciyan, R Ratnakaram, E Heon, SB Schwartz, ... Archives of ophthalmology 130 (1), 9-24, 2012 | 829 | 2012 |
| Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31 VC Sheffield, EM Stone, WLM Alward, AV Drack, AT Johnson, LM Streb, ... Nature genetics 4 (1), 47-50, 1993 | 612 | 1993 |
| A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy EM Stone, AJ Lotery, FL Munier, E Héon, B Piguet, RH Guymer, ... Nature genetics 22 (2), 199-202, 1999 | 578 | 1999 |
| Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A) WLM Alward, JH Fingert, MA Coote, AT Johnson, SF Lerner, D Junqua, ... New England Journal of Medicine 338 (15), 1022-1027, 1998 | 573 | 1998 |
| Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11) AP Chiang, JS Beck, HJ Yen, MK Tayeh, TE Scheetz, RE Swiderski, ... Proceedings of the National Academy of Sciences 103 (16), 6287-6292, 2006 | 568 | 2006 |
| The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 DY Nishimura, RE Swiderski, WLM Alward, CC Searby, SR Patil, ... Nature genetics 19 (2), 140-147, 1998 | 550 | 1998 |
| Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate NB Haider, SG Jacobson, AV Cideciyan, R Swiderski, LM Streb, C Searby, ... Nature genetics 24 (2), 127-131, 2000 | 547 | 2000 |
| Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene DY Nishimura, RE Swiderski, CC Searby, EM Berg, AL Ferguson, ... The American Journal of Human Genetics 77 (6), 1021-1033, 2005 | 515* | 2005 |
| Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease EM Stone, JL Andorf, SS Whitmore, AP DeLuca, JC Giacalone, LM Streb, ... Ophthalmology 124 (9), 1314-1331, 2017 | 494 | 2017 |
| Cloning and sequencing of a deoxyribonucleic acid copy of glyceraldehyde 3-phosphate dehydrogenase messenger ribonucleic acid isolated from chicken muscle A Dugaiczyk, JA Haron, EM Stone, OE Dennison, KN Rothblum, ... Biochemistry 22 (7), 1605-1613, 1983 | 488 | 1983 |
| Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy S Biswas, FL Munier, J Yardley, N Hart-Holden, R Perveen, P Cousin, ... Human molecular genetics 10 (21), 2415-2423, 2001 | 487 | 2001 |
| Leber congenital amaurosis–a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture EM Stone American journal of ophthalmology 144 (6), 791-811. e6, 2007 | 453 | 2007 |
