Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort
Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.
Abdul R et al.
Investigative Ophthalmology & Visual Science, 2025
40879297 (PubMed )
Supplement: iovs-66-11-73_s001.xlsx › Assessment
Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Wu J et al.
Peerj, 2023
37547722 (PubMed )
Supplement: peerj-11-15702-s004.xlsx › Table_S2
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2020
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2018
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