Associated Papers
A novel non-sense variant in GSDME causing exon skipping associated with DFNA5 in a large Chinese family.
Yang B et al.
Frontiers in Neurology, 2026
Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.
Que Y et al.
Journal of Translational Medicine, 2024
Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.
Jin Y et al.
Biomedicines, 2024
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
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients.
Naddafnia H et al.
Iranian Journal of Public Health, 2024
A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Lin X et al.
Frontiers in Pediatrics, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Next-generation sequencing improves precision medicine in hearing loss.
Imizcoz T et al.
Frontiers in Genetics, 2023
Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing.
Liu Y et al.
Gene, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.
Laurent S et al.
Human Mutation, 2021
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Xie L et al.
Neural Plasticity, 2021
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
MITF variants cause nonsyndromic sensorineural hearing loss with autosomal recessive inheritance.
Thongpradit S et al.
Scientific Reports, 2020
Exome-based search for recurrent disease-causing alleles in Russian population.
Yanus GA et al.
European Journal of Medical Genetics, 2019
Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.
Lindor NM et al.
Mayo Clinic Proceedings, 2015
Characterization of Somatic Mutations in Air Pollution-Related Lung Cancer.
Yu XJ et al.
Ebiomedicine, 2015
Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.
Gao X et al.
Plos One, 2013