Edwin M. Stone
Edwin M. Stone
University of Iowa, Carver College of Medicine, Department of Ophthalmology and Visual Sciences
Verified email at uiowa.edu - Homepage
Title
Cited by
Cited by
Year
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
21042008
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
15181997
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
10171998
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
8571993
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
8212009
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
6872008
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
5752012
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
5461993
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
5302017
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
4821998
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
4751998
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
4332000
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
4252006
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
4161999
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
4161983
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
3602002
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
3582001
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
3562007
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
3432004
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
3371993
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