Associated Papers
Analysis of combined screening results of the hearing and deafness genes in 10,754 newborns.
Lian J et al.
Open Medicine (warsaw, Poland), 2026
Multidimensional analysis of screening results of deafness susceptibility genes in 3066 newborns of different altitudes and nationalities in Xining, Qinghai(ISRCTN89197487).
Ren B et al.
Plos One, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Genotype Characteristics and Hearing Phenotype Analysis of Newborns with Biallelic GJB2 Mutations: A 652-Case-Cohort Study.
Li J et al.
International Journal of Neonatal Screening, 2025
Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.
Jin Y et al.
Biomedicines, 2024
A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts.
Wang S et al.
Molecular Genetics & Genomic Medicine, 2024
Next-generation sequencing for genetic testing of hearing loss populations.
Wang L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
Xiong Y et al.
International Journal of Pediatric Otorhinolaryngology, 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
Characteristics of hearing loss-associated gene mutations: A multi-center study of 119,606 neonates in Gannan.
Zhao M et al.
International Journal of Pediatric Otorhinolaryngology, 2023
Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts.
He X et al.
Bmc Medical Genomics, 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
Genetic mutations in patients with nonsyndromic hearing impairment of minority and Han Chinese ethnicities in Qinghai, China.
Duan S et al.
The Journal of International Medical Research, 2021
Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.
Cai L et al.
Frontiers in Genetics, 2021
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Xie L et al.
Neural Plasticity, 2021
Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China.
Tang X et al.
Frontiers in Pediatrics, 2021
A Microfluidic-Based SNP Genotyping Method for Hereditary Hearing-Loss Detection.
Lu Y et al.
Analytical Chemistry, 2019
[Application of next generation sequencing in congenital sensorineural deafness].
Xu B et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 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
Simultaneous multi‑gene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearing‑impairment in Northwest China.
Duan SH et al.
Molecular Medicine Reports, 2017
Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis.
Shen N et al.
Oncotarget, 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
Rapid and Reliable Detection of Nonsyndromic Hearing Loss Mutations by Multicolor Melting Curve Analysis.
Wang X 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
Deafness gene mutations in newborns in Beijing.
Han S 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
Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China.
Duan SH et al.
Acta Oto-laryngologica, 2015
Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review.
Tsukada K et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
Wu CM et al.
Plos One, 2015
A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.
Du W et al.
Genomics, 2014
[Common deafness gene mutations of non-syndromic hearing loss in Liaoning].
Tian Y et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 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
Associations between GJB2, mitochondrial 12S rRNA, SLC26A4 mutations, and hearing loss among three ethnicities.
Du W et al.
Biomed Research International, 2014
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
The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.
Yin A et al.
Bmc Medical Genetics, 2013
Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Miyagawa M et al.
Plos One, 2013
Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.
Ji YB et al.
Acta Oto-laryngologica, 2011
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
Yuan Y 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
Construction of a multiplex allele-specific PCR-based universal array (ASPUA) and its application to hearing loss screening.
Li CX et al.
Human Mutation, 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
[Molecular etiology of 573 patients with nonsyndromic hearing loss in 5 provinces of northwest region of China].
Zhu Q et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2007
Newborn screening for deafness genes with cord blood-based multicolour melting curve analysis.
Dai X et al.
American Journal of Otolaryngology, 0