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Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations

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

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

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

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

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

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

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

Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy

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

Author reply

Journal article

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

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

Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

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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

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

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

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

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

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