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
TitleCited byYear
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
19182008
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
14191997
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
9941998
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
8311993
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
7342009
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
6412008
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, 1993
5221993
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
5082012
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
4571998
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, 1998
4381998
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
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, 2000
4142000
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, 1999
3911999
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
3802006
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, 2002
3352002
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
3292001
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
3221993
Missense variations in the fibulin 5 gene and age-related macular degeneration
EM Stone, TA Braun, SR Russell, MH Kuehn, AJ Lotery, PA Moore, ...
New England Journal of Medicine 351 (4), 346-353, 2004
3182004
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
3082004
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
CL Freund, QL Wang, S Chen, BL Muskat, CD Wiles, VC Sheffield, ...
Nature genetics 18 (4), 311, 1998
3071998
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