Author

Alice E. Davidson

Observed names: A E Davidson, A. Davidson, A. E. Davidson, AE Davidson, Alice Davidson, Alice E Davidson, Alice E Davidson, Alice E. Davidson, Davidson AE, Davidson, A, Davidson, A.E., Davidson, AE, Davidson, Alice, Davidson, Alice E, Davidson, Alice Elizabeth

Institutions: Moorfields Eye Hospital NHS Foundation Trust, NIHR Moorfields Biomedical Research Centre, UCL Biomedical Research Centre, Moorfields Eye Hospital, University College London

Observed institutions: Moorfields Eye Hospital NHS Foundation Trust, Manchester Academic Health Science Centre, St James's University Hospital, University of Manchester, Hospital Universitario de San Vicente Fundación, Universidad de Antioquia, St Mary's Hospital, NIHR Moorfields Biomedical Research Centre, UCL Biomedical Research Centre, ORCID, Moorfields Eye Hospital, University College London

ORCID: 0000-0002-1816-6151

Observed ORCID: 0000-0002-1816-6151

OpenAlex ID: A5048860979

The pathogenesis of keratoconus

2013 · A E Davidson, S Hayes, et al. · Eye · 363

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

2009 · Alice E. Davidson, Ian D. Millar, et al. · The American Journal of Human Genetics · 185

Retinal Structure and Function in Achromatopsia

2013 · Venki Sundaram, Caroline Wilde, et al. · Ophthalmology · 179

A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

2013 · Kaoru Fujinami, Noemi Lois, et al. · American Journal of Ophthalmology · 153

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

2012 · T. R. Webb, D. A. Parfitt, et al. · Human Molecular Genetics · 150

TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease

2020 · Michael P. Fautsch, Eric D. Wieben, et al. · Progress in Retinal and Eye Research · 141

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis

2011 · Panagiotis I. Sergouniotis, Alice E. Davidson, et al. · The American Journal of Human Genetics · 141

Clinical and Molecular Analysis of Stargardt Disease With Preserved Foveal Structure and Function

2013 · Kaoru Fujinami, Panagiotis I. Sergouniotis, et al. · American Journal of Ophthalmology · 122

Retinal Structure, Function, and Molecular Pathologic Features in Gyrate Atrophy

2011 · Panagiotis I. Sergouniotis, Alice E. Davidson, et al. · Ophthalmology · 117

RP1L1Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

2012 · Alice E. Davidson, Panagiotis I. Sergouniotis, et al. · Human Mutation · 102

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity

2018 · Christina Zarouchlioti, Beatriz Sanchez-Pintado, et al. · The American Journal of Human Genetics · 99

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

2021 · Alison J. Hardcastle, Petra Liskova, et al. · Communications Biology · 96

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

2015 · Alice E. Davidson, Petra Liskova, et al. · The American Journal of Human Genetics · 80

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat

2019 · Nathaniel J. Hafford-Tear, Yu-Chih Tsai, et al. · Genetics in Medicine · 77

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing

2008 · R Burgess, R E MacLaren, et al. · Journal of Medical Genetics · 77

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

2013 · Arundhati Dev Borman, Laura R. Pearce, et al. · Human Mutation · 76

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

2016 · Sek-Shir Cheong, Lisa Hentschel, et al. · The American Journal of Human Genetics · 75

Recessive Mutations in TSPAN12 Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

2012 · James A. Poulter, Alice E. Davidson, et al. · Investigative Ophthalmology & Visual Science · 75

Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa

2013 · Alice E. Davidson, Nele Schwarz, et al. · The American Journal of Human Genetics · 73

Three Different Cone Opsin Gene Array Mutational Mechanisms; Genotype-Phenotype Correlation and Functional Investigation of Cone Opsin Variants

2014 · Jessica C. Gardner, Gerald Liew, et al. · Human Mutation · 72

Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study

2019 · Anthony P. Khawaja, Karla E. Rojas Lopez, et al. · JAMA Ophthalmology · 66

The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients

2013 · Kaoru Fujinami, Panagiotis I. Sergouniotis, et al. · Ophthalmology · 60

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4

2018 · Petra Liskova, Lubica Dudakova, et al. · The American Journal of Human Genetics · 58

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

2011 · Alice E. Davidson, Ian D. Millar, et al. · Investigative Ophthalmology & Visual Science · 57

Mutations in Collagen, Type XVII, Alpha 1 ( COL17A1 ) Cause Epithelial Recurrent Erosion Dystrophy (ERED)

2015 · Frida Jonsson, Berit Byström, et al. · Human Mutation · 56

Works count: 111

Citation count: 3,466

H-index: 32

I10-index: 51