Associated Papers
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates.
Kriukelis R et al.
European Journal of Human Genetics : Ejhg, 2025
Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.
Posukh OL et al.
Biomolecules, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.
Tsai CY et al.
Computational and Structural Biotechnology Journal, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
Discrimination of Single-Nucleotide Variants Based on an Allele-Specific Hybridization Chain Reaction and Smartphone Detection.
Lázaro A et al.
Acs Sensors, 2022
Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.
Torre-González C et al.
Boletin Medico Del Hospital Infantil De Mexico, 2022
VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss.
Peng J et al.
Human Mutation, 2021
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.
Godillot C et al.
Acta Dermato-venereologica, 2019
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Chakchouk I et al.
European Journal of Human Genetics : Ejhg, 2019
Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
Xiang YB et al.
International Journal of Pediatric Otorhinolaryngology, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM et al.
Human Mutation, 2018
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
Tayoun AN et al.
Human Mutation, 2016
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.
Jiang Y et al.
Plos One, 2015
GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
Hernández-Juárez AA et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.
Chan DK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
Tang HY et al.
American Journal of Medical Genetics. Part A, 2006
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
Azaiez H et al.
Human Mutation, 2004
Variant Reclassification in Underrepresented Minority Children With Sensorineural Hearing Loss.
Scaria SM et al.
Ear and Hearing, 0