Associated Papers
Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.
Kang H et al.
European Journal of Human Genetics : Ejhg, 2025
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Ozgur Z et al.
International Journal of Pediatric Otorhinolaryngology, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 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
Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families.
Gao B et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects.
Niu L et al.
Archives of Medical Science : Ams, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza AL et al.
Genes, 2022
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing.
Zeng B et al.
Frontiers in Genetics, 2022
Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing.
Tran NH et al.
Human Mutation, 2021
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.
Cai L et al.
Frontiers in Genetics, 2021
Genetics of Hearing Impairment in North-Eastern Romania-A Cost-Effective Improved Diagnosis and Literature Review.
Resmerita I et al.
Genes, 2020
The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
Liu XW et al.
International Journal of Pediatric Otorhinolaryngology, 2020
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
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
Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China.
Zhang M et al.
Acta Oto-laryngologica, 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
Children with GJB2 gene mutations have various audiological phenotypes.
Wang X et al.
Bioscience Trends, 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
Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.
Luo J et al.
Annals of Human Genetics, 2017
Clinical data analysis of genotypes and phenotypes of deafness gene mutations in newborns: A retrospective study.
Du Y et al.
Bioscience Trends, 2017
Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss.
Han R et al.
Medicine, 2017
Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population.
Jung J et al.
Scientific Reports, 2017
GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China.
Ma Y et al.
Acta Oto-laryngologica, 2016
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
Zhang F et al.
Biomed Research International, 2016
Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.
Gao Z et al.
Plos One, 2016
A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.
Du W et al.
Genomics, 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
Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans.
Pang X 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
Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.
Xin F et al.
Journal of Translational Medicine, 2013
Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene.
Zhao FF et al.
Genetic Testing and Molecular Biomarkers, 2011
Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.
Yuan Y et al.
Journal of Translational Medicine, 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
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.
Tekin M et al.
Annals of Human Genetics, 2010
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
Dai P et al.
Journal of Translational Medicine, 2009
The genetic bases for non-syndromic hearing loss among Chinese.
Ouyang XM et al.
Journal of Human Genetics, 2009
Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.
Han SH et al.
Journal of Human Genetics, 2008
[Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population].
Tian G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population.
Snoeckx RL et al.
American Journal of Medical Genetics. Part A, 2005