Associated Papers
Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel.
Ma J et al.
Human Genomics, 2023
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
X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.
Butler J et al.
Frontiers in Cellular Neuroscience, 2023
Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.
Wang T et al.
Computational and Structural Biotechnology Journal, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.
Aliazami F et al.
Iranian Journal of Public Health, 2020
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome.
Zhang Q et al.
Human Heredity, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Chen K et al.
Journal of Clinical Laboratory Analysis, 2018
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
[Analysis of the deafness gene screening results from newborns in Shijiazhuang].
Feng J et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2015
Cordblood-Based High-Throughput Screening for Deafness Gene of 646 Newborns in Jinan Area of China.
Li SX et al.
Clinical and Experimental Otorhinolaryngology, 2015
Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
Wu CC et al.
Medicine, 2015
Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.
Wingard JC et al.
Frontiers in Cellular Neuroscience, 2015
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Chang MY et al.
Korean Journal of Audiology, 2014
Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.
Li TC et al.
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2014
Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
Oh SK et al.
Biochimica Et Biophysica Acta, 2013
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013
Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.
Choi BY et al.
Plos One, 2013
Gene localization in a Chinese family with autosomal dominant non-syndromic deafness.
Jiang L et al.
Acta Oto-laryngologica, 2011
Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.
Yang JJ et al.
Human Genetics, 2010
[Sequence analysis of GJB3 in Chinese deafness population who carry one heterozygous GJB2 pathogenic mutation].
Yuan YY et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2010
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
Yuan Y et al.
Journal of Translational Medicine, 2009