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Publications

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

Cundy O. et al, (2020), Eye (Lond)

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

FGFR3 regulates brain size by controlling progenitor cell proliferation and apoptosis during embryonic development

Inglis-Broadgate SL. et al, (2005), Developmental Biology, 279, 73 - 85

Genomic Organization of Human CDS2 and Evaluation as a Candidate Gene for Corneal Hereditary Endothelial Dystrophy 2 on Chromosome 20p13

Halford S. et al, (2002), Experimental Eye Research, 75, 619 - 623

Characterization of a Novel Human Opsin Gene with Wide Tissue Expression and Identification of Embedded and Flanking Genes on Chromosome 1q43

Halford S. et al, (2001), Genomics, 72, 203 - 208

Include forthcoming?