Associated Papers
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1
Phenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.
Wang Y et al.
Progress in Retinal and Eye Research, 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
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
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
Mitochondrial Dysfunction and Impaired Antioxidant Responses in Retinal Pigment Epithelial Cells Derived from a Patient with RCBTB1-Associated Retinopathy.
Huang Z et al.
Cells, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
Gene replacement therapy restores RCBTB1 expression and cilium length in patient-derived retinal pigment epithelium.
Huang Z et al.
Journal of Cellular and Molecular Medicine, 2021
Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
Yang J et al.
Current Eye Research, 2021
Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.
Huang Z et al.
Ophthalmic Genetics, 2021
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
33608557 (PubMed )
Supplement: 41525_2021_180_MOESM1_ESM.pdf
Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations.
Huang Z et al.
Stem Cell Research, 2019
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy.
Wu JH et al.
Human Molecular Genetics, 2016
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