Associated Papers
Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.
Huang YS et al.
Investigative Ophthalmology & Visual Science, 2025
41060150 (PubMed )
Supplement: iovs-66-13-12_s002.xlsx › Table_S4-diagnosed_cases
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1
Accelerating genetic diagnostics in retinitis pigmentosa: implementation of a semi-automated bespoke cohort analysis workflow for Hong Kong Genome Project.
Ying D et al.
Human Genetics, 2025
Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.
Yeo EYH et al.
Translational Vision Science & Technology, 2025
39932467 (PubMed )
Supplement: tvst-14-2-16_s003.pdf
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study.
Suvannaboon R et al.
Scientific Reports, 2022
Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.
Gao FJ et al.
Eye (london, England), 2022
34689181 (PubMed )
Supplement: 41433_2021_1794_MOESM5_ESM.pdf
Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.
Lo JE et al.
Translational Vision Science & Technology, 2022
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