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Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

Journal article

Shah M. et al, (2020), JAMA Ophthalmol

Genotype-Phenotype Analysis of Three Novel NR2E3 Mutations

Conference paper

Al-Khuzaei SA. et al, (2019), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 60

Two novel homozygous splicing mutations in ARL2BP cause autosomal recessive Retinitis Pigmentosa

Conference paper

Fiorentino A. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 43 - 44

Deletion of an Nrl-regulated alternative promoter results in retina-specific silencing of Frmpd1, a gene involved in mediating rod adaptation

Conference paper

Campla CK. et al, (2018), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 59

Expression of an opsin protein in developing starburst amacrine cells

Conference paper

Sekaran S. et al, (2018), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 59

Genetics of the Retinal Dystrophies

Journal article

Merepa SS. et al, (2018), eLS

Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy

Journal article

Broadgate S. et al, (2018), Acta Ophthalmologica, 96, 1 - 51

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

Journal article

Fiorentino A. et al, (2018), Mol Vis, 24, 603 - 612

Pheno4J: a gene to phenotype graph database

Journal article

Mughal S. et al, (2017), Bioinformatics, 33, 3317 - 3319

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

Journal article

Pontikos N. et al, (2017), Bioinformatics, 33, 2421 - 2423

Unravelling the genetics of inherited retinal dystrophies: Past, present and future

Journal article

Broadgate S. et al, (2017), Progress in Retinal and Eye Research, 59, 53 - 96

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Journal article

Xu M. et al, (2017), The American Journal of Human Genetics, 100, 592 - 604

Biallelic Mutation of ARHGEF18 , Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Journal article

Arno G. et al, (2017), The American Journal of Human Genetics, 100, 334 - 342

Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy

Journal article

Hull S. et al, (2016), JAMA Ophthalmology, 134, 992 - 992

Isoforms of Melanopsin Mediate Different Behavioral Responses to Light

Journal article

Jagannath A. et al, (2015), Current Biology, 25, 2430 - 2434

Genotype-phenotype correlation of diabetic macular edema in type 2 diabetes

Conference paper

Kiire CA. et al, (2015), INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 56

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