Associated Papers
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
Messchaert M et al.
Human Mutation, 2018
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford JM et al.
Ophthalmology, 2016
26872967 (PubMed )
Supplement: mmc8.pdf
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
Ge Z et al.
Scientific Reports, 2015
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
O'Sullivan J et al.
Journal of Medical Genetics, 2012
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
Littink KW et al.
Ophthalmology, 2010
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