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An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story

Journal article

Al-Khuzaei S. et al, (2021), Genes, 12, 1241 - 1241

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.

Journal article

Al-Khuzaei S. et al, (2020), Genes (Basel), 11

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

Journal article

Shah M. et al, (2020), JAMA Ophthalmol, 138, 544 - 551

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

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

Journal article

Broadgate S. et al, (2018), Acta Ophthalmol, 96 Suppl A111, 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), Prog Retin Eye Res, 59, 53 - 96

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