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Search results (18)

« Back to Publications

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".

Cundy O. et al, (2021), Eye (Lond), 35, 1440 - 1449

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

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

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

Taylor RL. et al, (2019), Ophthalmology, 126, 1410 - 1421

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

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

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

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

New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders

Holt R. et al, (2017), Scientific Reports, 7

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

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

Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders

Holt R. et al, (2017), Human Genetics, 136, 119 - 127

Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy

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

Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy

Singh MS. et al, (2016), Scientific Reports, 6

Author reply

Halford S. et al, (2015), Ophthalmology, 122, e22 - e22

Identification of rod- and cone-specific expression signatures to identify candidate genes for retinal disease

Holt R. et al, (2015), Experimental Eye Research, 132, 161 - 173

Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Halford S. et al, (2014), Ophthalmology, 121, 1174 - 1184

Expression of coiled-coil protein 1, a novel gene downstream of FGF2, in the developing brain

Pellicano F. et al, (2006), Gene Expression Patterns, 6, 285 - 293

Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2

Inglis-Broadgate SL. et al, (2005), Gene, 356, 19 - 31

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