关注
Alice Davidson
Alice Davidson
Research Fellow UCL
在 ucl.ac.uk 的电子邮件经过验证
标题
引用次数
引用次数
年份
The pathogenesis of keratoconus
AE Davidson, S Hayes, AJ Hardcastle, SJ Tuft
Eye 28 (2), 189-195, 2014
3982014
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa
AE Davidson, ID Millar, JE Urquhart, R Burgess-Mullan, Y Shweikh, ...
The American Journal of Human Genetics 85 (5), 581-592, 2009
2032009
Retinal structure and function in achromatopsia: implications for gene therapy
V Sundaram, C Wilde, J Aboshiha, J Cowing, C Han, CS Langlo, ...
Ophthalmology 121 (1), 234-245, 2014
1862014
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
TR Webb, DA Parfitt, JC Gardner, A Martinez, D Bevilacqua, AE Davidson, ...
Human molecular genetics 21 (16), 3647-3654, 2012
1722012
A longitudinal study of Stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations
K Fujinami, N Lois, AE Davidson, DS Mackay, CR Hogg, EM Stone, ...
American Journal of Ophthalmology 155 (6), 1075-1088. e13, 2013
1712013
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis
PI Sergouniotis, AE Davidson, DS Mackay, Z Li, X Yang, V Plagnol, ...
The American Journal of Human Genetics 89 (1), 183-190, 2011
1712011
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function
K Fujinami, PI Sergouniotis, AE Davidson, G Wright, RK Chana, ...
American journal of ophthalmology 156 (3), 487-501. e1, 2013
1222013
Retinal structure, function, and molecular pathologic features in gyrate atrophy
PI Sergouniotis, AE Davidson, E Lenassi, SR Devery, AT Moore, ...
Ophthalmology 119 (3), 596-605, 2012
1152012
RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy
AE Davidson, PI Sergouniotis, DS Mackay, GA Wright, NH Waseem, ...
Human Mutation 34 (3), 506-514, 2013
1062013
An overview of Grenville Province geology, Canadian shield
A Davidson
1011998
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR)
JA Poulter, AE Davidson, M Ali, DF Gilmour, DA Parry, HA Mintz-Hittner, ...
Investigative ophthalmology & visual science 53 (6), 2873-2879, 2012
822012
Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2
AE Davidson, P Liskova, CJ Evans, L Dudakova, L Nosková, N Pontikos, ...
The American Journal of Human Genetics 98 (1), 75-89, 2016
812016
A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity
AD Borman, LR Pearce, DS Mackay, K Nagel‐Wolfrum, AE Davidson, ...
Human mutation 35 (3), 289-293, 2014
812014
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa
AE Davidson, N Schwarz, L Zelinger, G Stern-Schneider, A Shoemark, ...
The American Journal of Human Genetics 93 (2), 321-329, 2013
792013
Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity
C Zarouchlioti, B Sanchez-Pintado, NJH Tear, P Klein, P Liskova, K Dulla, ...
The American Journal of Human Genetics 102 (4), 528-539, 2018
742018
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing
R Burgess, RE MacLaren, AE Davidson, JE Urquhart, GE Holder, ...
Journal of medical genetics 46 (9), 620-625, 2009
742009
The clinical effect of homozygous ABCA4 alleles in 18 patients
K Fujinami, PI Sergouniotis, AE Davidson, DS Mackay, K Tsunoda, ...
Ophthalmology 120 (11), 2324-2331, 2013
702013
Three different cone Opsin gene Array mutational mechanisms with genotype–phenotype correlation and functional investigation of cone Opsin variants
JC Gardner, G Liew, YH Quan, B Ermetal, H Ueyama, AE Davidson, ...
Human mutation 35 (11), 1354-1362, 2014
672014
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy
AE Davidson, ID Millar, R Burgess-Mullan, GJ Maher, JE Urquhart, ...
Investigative ophthalmology & visual science 52 (6), 3730-3736, 2011
642011
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat
NJ Hafford-Tear, YC Tsai, AN Sadan, B Sanchez-Pintado, C Zarouchlioti, ...
Genetics in Medicine 21 (9), 2092-2102, 2019
612019
系统目前无法执行此操作,请稍后再试。
文章 1–20