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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
Genomic landscape and comparative analysis of tissue and liquid-based NGS in Taiwanese anaplastic thyroid carcinoma.
Yeh CN et al.
Npj Precision Oncology, 2025
High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population.
Lin YW et al.
Orphanet Journal of Rare Diseases, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.
Young SL et al.
Bmc Ophthalmology, 2022
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.
Su BN et al.
Frontiers in Aging Neuroscience, 2022
Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome.
Li W et al.
Frontiers in Genetics, 2022
Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome.
Brodie KD et al.
The Laryngoscope, 2021
Prevalence and genetic-phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease.
Gao FJ et al.
The British Journal of Ophthalmology, 2021
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients.
Inaba A et al.
International Journal of Molecular Sciences, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
Oishi M et al.
Investigative Ophthalmology & Visual Science, 2014