Associated Papers
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 › VUS
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1
Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations: A case report.
Lin T et al.
World Journal of Clinical Cases, 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
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
32218477 (PubMed )
Supplement: 41598_2020_62119_MOESM2_ESM.xlsx › Sheet1
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
27824329 (PubMed )
Supplement: ncomms13316-s5.xlsx › Supplementary_Data_4
Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.
Seong MW et al.
The Journal of Molecular Diagnostics : Jmd, 2015
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