|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome|
K Mykytyn, DY Nishimura, CC Searby, M Shastri, H Yen, JS Beck, T Braun, ...
Nature genetics 31 (4), 435-438, 2002
|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
|Leber congenital amaurosis–a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture|
American journal of ophthalmology 144 (6), 791-811. e6, 2007
|Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin|
DY Nishimura, M Fath, RF Mullins, C Searby, M Andrews, R Davis, ...
Proceedings of the National Academy of Sciences 101 (47), 16588-16593, 2004
|Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene|
RG Weleber, RE Carr, WH Murphey, VC Sheffield, EM Stone
Archives of Ophthalmology 111 (11), 1531-1542, 1993