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Anthony Moore
Anthony Moore
UCL Institute of Ophthalmology
Adresse e-mail validée de ucsf.edu
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Effect of gene therapy on visual function in Leber's congenital amaurosis
JWB Bainbridge, AJ Smith, SS Barker, S Robbie, R Henderson, ...
New England Journal of Medicine 358 (21), 2231-2239, 2008
23902008
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
C Alexander, M Votruba, UEA Pesch, DL Thiselton, S Mayer, A Moore, ...
Nature genetics 26 (2), 211-215, 2000
15612000
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
LG Fritsche, W Igl, JNC Bailey, F Grassmann, S Sengupta, ...
Nature genetics 48 (2), 134-143, 2016
14032016
Clinical features and natural history of von Hippel-Lindau disease
ER Maher, JRW Yates, R Harries, C Benjamin, R Harris, AT Moore, ...
QJM: An International Journal of Medicine 77 (2), 1151-1163, 1990
11381990
Complement C3 variant and the risk of age-related macular degeneration
JRW Yates, T Sepp, BK Matharu, JC Khan, DA Thurlby, H Shahid, ...
New England Journal of Medicine 357 (6), 553-561, 2007
11162007
Seven new loci associated with age-related macular degeneration
Nature genetics 45 (4), 433-439, 2013
8552013
Long-term effect of gene therapy on Leber’s congenital amaurosis
JWB Bainbridge, MS Mehat, V Sundaram, SJ Robbie, SE Barker, ...
New England Journal of Medicine 372 (20), 1887-1897, 2015
7882015
Smoking and age related macular degeneration: the number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal …
JC Khan, DA Thurlby, H Shahid, DG Clayton, JRW Yates, M Bradley, ...
British Journal of Ophthalmology 90 (1), 75-80, 2006
4682006
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant “zonular pulverulent” cataract, on chromosome 1q
A Shiels, D Mackay, A Ionides, V Berry, A Moore, S Bhattacharya
The American Journal of Human Genetics 62 (3), 526-532, 1998
4141998
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ...
The American Journal of Human Genetics 100 (1), 75-90, 2017
4082017
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13. 4 (RP11)
EN Vithana, L Abu-Safieh, MJ Allen, A Carey, M Papaioannou, ...
Molecular cell 8 (2), 375-381, 2001
4062001
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
3652021
Missense mutations in MIP underlie autosomal dominant ‘polymorphic’and lamellar cataracts linked to 12q
V Berry, P Francis, S Kaushal, A Moore, S Bhattacharya
Nature genetics 25 (1), 15-17, 2000
3552000
Connexin46 mutations in autosomal dominant congenital cataract
D Mackay, A Ionides, Z Kibar, G Rouleau, V Berry, A Moore, A Shiels, ...
The American Journal of Human Genetics 64 (5), 1357-1364, 1999
3441999
Reviews of evidence regarding interventions to reduce tobacco use and exposure to environmental tobacco smoke
DP Hopkins, PA Briss, CJ Ricard, CG Husten, VG Carande-Kulis, ...
American journal of preventive medicine 20 (2), 16-66, 2001
3352001
Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans
V Berry, P Francis, MA Reddy, D Collyer, E Vithana, I MacKay, G Dawson, ...
The American Journal of Human Genetics 69 (5), 1141-1145, 2001
3242001
Two infant vision screening programmes: prediction and prevention of strabismus and amblyopia from photo-and videorefractive screening
J Atkinson, O Braddick, B Bobier, S Anker, D Ehrlich, J King, P Watson, ...
Eye 10 (2), 189-198, 1996
3151996
Identification and correction of mechanisms underlying inherited blindness in human iPSC-derived optic cups
DA Parfitt, A Lane, CM Ramsden, AJF Carr, PM Munro, K Jovanovic, ...
Cell stem cell 18 (6), 769-781, 2016
3142016
Molecular genetic basis of inherited cataract and associated phenotypes
MA Reddy, PJ Francis, V Berry, SS Bhattacharya, AT Moore
Survey of ophthalmology 49 (3), 300-315, 2004
3142004
Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
CF Chakarova, MM Hims, H Bolz, L Abu-Safieh, RJ Patel, ...
Human molecular genetics 11 (1), 87-92, 2002
3062002
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