Associated Papers
From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration.
Huang YS et al.
Human Genomics, 2026
Aqueous Humor Exosomal Membrane Proteins: Decoding Pathogenic Molecular Signatures in Retinitis Pigmentosa.
Zhu Q et al.
Translational Vision Science & Technology, 2025
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
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
Eyes shut homolog (EYS): Connecting molecule to disease.
Marques JP et al.
Progress in Retinal and Eye Research, 2025
Novel founder variant in the S-antigen visual arrestin gene SAG is the most prevalent cause of autosomal dominant retinitis pigmentosa in Singaporean Chinese.
Quinodoz M et al.
Journal of Medical Genetics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.
Sao Su S et al.
Ophthalmic Genetics, 2025
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
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.
Sun HN et al.
Molecular Genetics & Genomic Medicine, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Generation of an EYS-associated retinitis pigmentosa patient-derived human pluripotent stem cell line (MUi038-A).
Pongpaksupasin P et al.
Stem Cell Research, 2024
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Quinodoz M et al.
American Journal of Human Genetics, 2024
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants.
Liu X et al.
Npj Genomic Medicine, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
The qMini assay identifies an overlooked class of splice variants.
Guan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.
Chan CM et al.
Retina (philadelphia, Pa.), 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.
Lee BJH et al.
Ophthalmic Genetics, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
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
Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.
Lo JE et al.
Translational Vision Science & Technology, 2022
Clinical and genetic investigations in Chinese families with retinitis pigmentosa.
Chen L et al.
Experimental Biology and Medicine (maywood, N.j.), 2022
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 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
Identification of Novel EYS Mutations by Targeted Sequencing Analysis.
Tian W et al.
Genetic Testing and Molecular Biomarkers, 2020
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
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.
Chen ZJ et al.
Clinical & Experimental Ophthalmology, 2020
Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
Sun Y et al.
Molecular Genetics & Genomic Medicine, 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
Chromosomal microarray and whole-exome sequence analysis in Taiwanese patients with autism spectrum disorder.
Chang YS et al.
Molecular Genetics & Genomic Medicine, 2019