Associated Papers
Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.
Lee S et al.
Journal of Breast Cancer, 2025
Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.
Zhou Z et al.
Biomedical Reports, 2025
Four novel genetic mutations are associated with patent foramen ovale in Tibetan population using whole exome sequencing.
Li H et al.
Frontiers in Genetics, 2025
Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.
Li J et al.
Heliyon, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 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
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 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
Assessment of Hearing Screening Combined With Limited and Expanded Genetic Screening for Newborns in Nantong, China.
Zhu QW et al.
Jama Network Open, 2021
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.
Lam WY et al.
Ebiomedicine, 2021
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
Zhu T 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
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J et al.
International Journal of Molecular Sciences, 2020
Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.
Wu D et al.
Molecular Genetics & Genomic Medicine, 2020
Whole exome sequencing identifies novel USH2A mutations and confirms Usher syndrome 2 diagnosis in Chinese retinitis pigmentosa patients.
Ng TK et al.
Scientific Reports, 2019
Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population.
Huang L et al.
Eye (london, England), 2018
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Wang L et al.
Genes, 2018
Gene screening facilitates diagnosis of complicated symptoms: A case report.
Duan H et al.
Molecular Medicine Reports, 2017
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013