Associated Papers
Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.
Chen L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.
Xiao D et al.
Frontiers in Genetics, 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
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Xie L et al.
Neural Plasticity, 2021
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
Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.
Wu D et al.
Molecular Genetics & Genomic Medicine, 2020
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.
Yuan Y et al.
European Journal of Human Genetics : Ejhg, 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
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.
Han JJ et al.
Scientific Reports, 2019
A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.
Liu Y et al.
Plos One, 2019
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A).
Pshennikova VG et al.
Thescientificworldjournal, 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
Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.
Sampaio-Silva J et al.
Annals of Human Genetics, 2018
Development and validation of a fetal genotyping assay with potential for noninvasive prenatal diagnosis of hereditary hearing loss.
Chen Y et al.
Prenatal Diagnosis, 2016
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
Chen S et al.
Genetic Testing and Molecular Biomarkers, 2016
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?
Kim SY et al.
Medicine, 2016
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan.
Chu CW et al.
International Journal of Pediatric Otorhinolaryngology, 2015
Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.
Sheffield BS et al.
Plos One, 2015
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
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
Yao G et al.
Acta Oto-laryngologica, 2013
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
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
Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
Liu XZ et al.
Human Genetics, 2009
[Connexin gene 26 (GJB2) mutations in patients with hereditary non-syndromic sensorineural loss of hearing in the Republic of Sakha (Yakutia)].
Barashkov NA et al.
Vestnik Otorinolaringologii, 2008
[Study of the relation between Cx31 gene and hereditary hearing impairment].
Gao WH et al.
Zhonghua Er Bi Yan Hou Ke Za Zhi, 2004