Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Riahi Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.
Kim JA et al.
Experimental & Molecular Medicine, 2025
Generation of an induced pluripotent stem cell line from a late-onset, progressive high frequency hearing loss patient due to mutation in CDH23.
Arai D et al.
Stem Cell Research, 2024
Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants.
Tsukada K 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
Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.
Aboagye ET et al.
Genes, 2023
A Novel Biallelic Variant in CDH23 Gene in a Family with Atypical USH1D Manifestation: A Literature Review and Investigation of Genotype-Phenotype Correlation.
Khorram E et al.
Audiology & Neuro-otology, 2023
Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss.
Chen K et al.
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2022
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
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
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
Genetic background in late-onset sensorineural hearing loss patients.
Uehara N et al.
Journal of Human Genetics, 2022
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss.
Usami SI et al.
Human Genetics, 2022
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.
Mutai H et al.
Orphanet Journal of Rare Diseases, 2022
Identification of four novel variants in the CDH23 gene from four affected families with hearing loss.
Kang B et al.
Frontiers in Genetics, 2022
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo.
Gao Y et al.
Current Medical Science, 2021
A novel highly frequent single‑nucleotide polymorphism site of cadherin 23 in clear cell renal cell carcinoma with sarcomatoid differentiation based on whole exome sequencing.
Yu W et al.
Oncology Reports, 2020
The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees.
Lee SY et al.
Scientific Reports, 2020
Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
Mutai H et al.
Plos Genetics, 2020
Cochlear Implantation From the Perspective of Genetic Background.
Usami SI et al.
Anatomical Record (hoboken, N.j. : 2007), 2020
Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot?
Shinagawa J et al.
Genes, 2020
Identification of novel cadherin 23 variants in a Chinese family with hearing loss.
Xu T et al.
Molecular Medicine Reports, 2019
Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.
Alimardani M et al.
Fetal and Pediatric Pathology, 2019
The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis.
Xu T 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, 2019
Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel.
Nishio SY et al.
Molecular Genetics & Genomic Medicine, 2018
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
Kang E et al.
Molecular Medicine (cambridge, Mass.), 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
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
Sakuma N et al.
Journal of Human Genetics, 2016
Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans.
Han KH et al.
Plos One, 2016
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
Mori K et al.
Plos One, 2016
Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans.
Kim BJ et al.
Plos One, 2016
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
Kim SY et al.
Journal of Translational Medicine, 2015
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.
Mizutari K et al.
Orphanet Journal of Rare Diseases, 2015
Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.
Nishio SY et al.
Genetic Testing and Molecular Biomarkers, 2015
Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.
Park JH et al.
Orphanet Journal of Rare Diseases, 2014
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Chang MY et al.
Korean Journal of Audiology, 2014
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
Woo HM et al.
Bmc Medical Genetics, 2014
Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
Yoshimura H et al.
Plos One, 2014