| Adult-onset primary open-angle glaucoma caused by mutations in optineurin T Rezaie, A Child, R Hitchings, G Brice, L Miller, M Coca-Prados, E Héon, ... Science 295 (5557), 1077-1079, 2002 | 1321 | 2002 |
| 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 | 820 | 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 | 774 | 2012 |
| Analysis of myocilin mutations in 1703 glaucoma patients from five different populations JH Fingert, E Héon, JM Liebmann, T Yamamoto, JE Craig, J Rait, ... Human molecular genetics 8 (5), 899-905, 1999 | 705 | 1999 |
| Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1 S Monemi, G Spaeth, A DaSilva, S Popinchalk, E Ilitchev, J Liebmann, ... Human molecular genetics 14 (6), 725-733, 2005 | 585 | 2005 |
| 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 | 539 | 1999 |
| Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test AC Lionel, G Costain, N Monfared, S Walker, MS Reuter, SM Hosseini, ... Genetics in Medicine 20 (4), 435-443, 2018 | 531 | 2018 |
| Improvement and decline in vision with gene therapy in childhood blindness SG Jacobson, AV Cideciyan, AJ Roman, A Sumaroka, SB Schwartz, ... New England Journal of Medicine 372 (20), 1920-1926, 2015 | 422 | 2015 |
| Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene AL Vincent, G Billingsley, Y Buys, AV Levin, M Priston, G Trope, ... The American Journal of Human Genetics 70 (2), 448-460, 2002 | 388 | 2002 |
| VSX1: A gene for posterior polymorphous dystrophy and keratoconus E Heon, A Greenberg, KK Kopp, D Rootman, AL Vincent, G Billingsley, ... Human molecular genetics 11 (9), 1029-1036, 2002 | 354 | 2002 |
| Mutations in MKKS cause Bardet-Biedl syndrome AM Slavotinek, EM Stone, K Mykytyn, JR Heckenlively, JS Green, E Heon, ... Nature genetics 26 (1), 15-16, 2000 | 322 | 2000 |
| The γ-crystallins and human cataracts: a puzzle made clearer E Héon, M Priston, DF Schorderet, GD Billingsley, PO Girard, N Lubsen, ... The American Journal of Human Genetics 65 (5), 1261-1267, 1999 | 322 | 1999 |
| Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma RV Jamieson, R Perveen, B Kerr, M Carette, J Yardley, E Heon, MG Wirth, ... Human molecular genetics 11 (1), 33-42, 2002 | 316 | 2002 |
| Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2) DY Nishimura, CC Searby, R Carmi, K Elbedour, L Van Maldergem, ... Human Molecular Genetics 10 (8), 865-874, 2001 | 303 | 2001 |
| Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success SG Jacobson, TS Aleman, AV Cideciyan, A Sumaroka, SB Schwartz, ... Proceedings of the National Academy of Sciences 102 (17), 6177-6182, 2005 | 280 | 2005 |
| Mutations in the CRB1 gene cause Leber congenital amaurosis AJ Lotery, SG Jacobson, GA Fishman, RG Weleber, AB Fulton, ... Archives of ophthalmology 119 (3), 415-420, 2001 | 279 | 2001 |
| New locus for autosomal dominant high myopia maps to the long arm of chromosome 17 P Paluru, SM Ronan, E Heon, M Devoto, SC Wildenberg, G Scavello, ... Investigative ophthalmology & visual science 44 (5), 1830-1836, 2003 | 272 | 2003 |
| An analysis of allelic variation in the ABCA4 gene AR Webster, E Héon, AJ Lotery, K Vandenburgh, TL Casavant, KT Oh, ... Investigative ophthalmology & visual science 42 (6), 1179-1189, 2001 | 259 | 2001 |
| BIGH3 mutation spectrum in corneal dystrophies FL Munier, BE Frueh, P Othenin-Girard, S Uffer, P Cousin, MX Wang, ... Investigative ophthalmology & visual science 43 (4), 949-954, 2002 | 248 | 2002 |
| Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia S Kohl, D Zobor, WC Chiang, N Weisschuh, J Staller, IG Menendez, ... Nature genetics 47 (7), 757-765, 2015 | 221 | 2015 |
