Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Mutation Spectrum of GJB2 in Taiwanese Patients with Sensorineural Hearing Loss: Prevalence, Pathogenicity, and Clinical Implications.
Lin YF et al.
International Journal of Molecular Sciences, 2025
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort.
Yuan L et al.
Genes, 2023
Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.
Mao L et al.
Biology, 2023
Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards.
Poon KS et al.
Global Medical Genetics, 2021
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Yu X et al.
Orphanet Journal of Rare Diseases, 2020
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.
Huang S et al.
Biomed Research International, 2020
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
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
Genetic mutations in non-syndromic deafness patients in Hainan Province have a different mutational spectrum compared to patients from Mainland China.
Huang B et al.
International Journal of Pediatric Otorhinolaryngology, 2018
Wan Du et al. - Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngol 2014; 134: 373-381.
Hellström S
Acta Oto-laryngologica, 2018
Carrier re-sequencing reveals rare but benign variants in recessive deafness genes.
He L et al.
Scientific Reports, 2017
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.
Nishio SY et al.
Human Mutation, 2017
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.
Chow YP et al.
Orphanet Journal of Rare Diseases, 2017
Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.
Shi L et al.
The Journal of Laryngology and Otology, 2016
Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases.
Xing J et al.
Balkan Journal of Medical Genetics : Bjmg, 2016
GJB2 and mitochondrial 12S rRNA susceptibility mutations in sudden deafness.
Chen K et al.
European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2016
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Sloan-Heggen CM et al.
Human Genetics, 2016
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not?
Kim SY et al.
Medicine, 2016
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
Wu H et al.
Plos One, 2016
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).
Barashkov NA et al.
Plos One, 2016
Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population.
Taniguchi M et al.
Journal of Human Genetics, 2015
The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region.
Bozdoğan ST et al.
The Journal of International Advanced Otology, 2015
[The sequencing analyze of 915 newborn with GJB2 heterozygous mutation in Beijing].
Cui Qingjia et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2015
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
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Yilmaz A
Cell Biochemistry and Biophysics, 2015
Prevalence of mutations in GJB2, SLC26A4, and mtDNA in children with severe or profound sensorineural hearing loss in southwestern China.
Qing J et al.
Genetic Testing and Molecular Biomarkers, 2015
GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.
Zheng J et al.
Plos One, 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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.
Han XH et al.
Genetica, 2014
Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.
Jiang H et al.
Molecular Medicine Reports, 2014
Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.
Chen T et al.
Annals of Human Genetics, 2014
[Mutation screening in taperin gene in Chinese with prelingual nonsyndromic hearing impairment].
Wang Q et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2014
Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.
Du W et al.
Acta Oto-laryngologica, 2014
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.
Bonyadi MJ et al.
International Journal of Pediatric Otorhinolaryngology, 2014
Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.
Chen K et al.
Journal of Translational Medicine, 2014
Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.
Barashkov NA et al.
Plos One, 2014
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
Li Q et al.
Chinese Medical Journal, 2014
[Analysis of genotype-phenotype correlation for GJB2 in 221 non-syndromic deafness probands and their pedigrees].
Yu X et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2013
Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China.
Yang XL et al.
Acta Oto-laryngologica, 2013
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
Yao G et al.
Acta Oto-laryngologica, 2013
Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.
Wei Q et al.
Journal of Translational Medicine, 2013
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss.
Zainal SA et al.
International Journal of Pediatric Otorhinolaryngology, 2012
Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic.
Shin JW et al.
Clinical and Experimental Otorhinolaryngology, 2012
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.
Usami S et al.
Plos One, 2012