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
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E et al.
Molecular Medicine (cambridge, Mass.), 2025
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.
Ma P et al.
Molecular Genetics & Genomic Medicine, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
Hereditary deafness carrier screening in 9,993 Chinese individuals.
Liu Y et al.
Frontiers in Genetics, 2023
Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.
Tian Y et al.
Molecular Genetics & Genomic Medicine, 2021
Targeted next-generation sequencing of deaf patients from Southwestern China.
Li Y et al.
Molecular Genetics & Genomic Medicine, 2021
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
Wang J et al.
Scientific Reports, 2021
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
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 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
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
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Lu YJ et al.
Medicine, 2015
Probing the Effect of Two Heterozygous Mutations in Codon 723 of SLC26A4 on Deafness Phenotype Based on Molecular Dynamics Simulations.
Yao J et al.
Scientific Reports, 2015
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
Zhao J et al.
Plos One, 2014
Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome.
Zhao FF et al.
Acta Oto-laryngologica, 2013
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
Landa P et al.
Bmc Medical Genetics, 2013
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
Yao G et al.
Acta Oto-laryngologica, 2013
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.
Li Q et al.
Journal of Translational Medicine, 2012
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.
Yuan Y et al.
Plos One, 2012
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.
Huang S et al.
Journal of Translational Medicine, 2011
[Analysis of positive rate of common genetic mutations in 1448 cases with different hearing phenotype].
Wang G et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2011
[Genetic counseling and instruction for deaf couples directed by genetic testing].
Han B et al.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2007