Associated Papers
Genetic screening for hearing loss of 38,589 neonates with follow-up in South China.
Gu X et al.
Human Genomics, 2025
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
Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.
Xiao Y et al.
Genetic Testing and Molecular Biomarkers, 2025
Clinical utility of exome sequencing in hearing loss: a retrospective cohort study.
Liu C et al.
Frontiers in Genetics, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Analysis of deafness susceptibility gene of neonates in northern Guangdong, China.
Ma Z et al.
Scientific Reports, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
The effect of SLC26A4 gene mutations on long-term rehabilitative outcomes in cochlear implant patients.
Wang Q et al.
Acta Oto-laryngologica, 2023
Hereditary deafness carrier screening in 9,993 Chinese individuals.
Liu Y et al.
Frontiers in Genetics, 2023
Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.
Xiang J 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
Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.
Yang Y et al.
The Application of Clinical Genetics, 2022
Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China.
Qi M et al.
Birth Defects Research, 2021
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
Wang J et al.
Scientific Reports, 2021
Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.
Xie L et al.
Neural Plasticity, 2021
Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.
Liu Y 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, 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
Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan.
Ramzan M et al.
Scientific Reports, 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
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
Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss.
Wu L et al.
Bioscience Reports, 2019
Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform.
Sun Y et al.
Medicine, 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
Reproductive guidance through prenatal diagnosis and genetic counseling for recessive hereditary hearing loss in high-risk families.
Deng Y et al.
International Journal of Pediatric Otorhinolaryngology, 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
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
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 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
Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.
Chen K et al.
Journal of Translational Medicine, 2014
Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.
Chen K et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2012
SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
Anwar S et al.
Journal of Human Genetics, 2009