Associated Papers
From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.
Huang YS et al.
Human Genomics, 2026
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.
Huang YS et al.
Investigative Ophthalmology & Visual Science, 2025
Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.
Yeo EYH et al.
Translational Vision Science & Technology, 2025
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.
Lo JE et al.
Translational Vision Science & Technology, 2022
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort.
Xu K et al.
Frontiers in Cell and Developmental Biology, 2021
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
Yang L et al.
Scientific Reports, 2020
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Dan H et al.
Molecular Genetics & Genomic Medicine, 2020
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
Inherited retinal disease-associated uveitis.
Hung JH et al.
Survey of Ophthalmology, 0