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
[Analysis of pathogenic variant carriage for MYO7A, PCDH15, and CDH23 genes among newborns based on high-throughput sequencing technique].
Li Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.
Vincke L et al.
Npj Genomic Medicine, 2025
Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss.
Liao B et al.
Genes & Genomics, 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
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
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
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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Cochlear Implantation From the Perspective of Genetic Background.
Usami SI et al.
Anatomical Record (hoboken, N.j. : 2007), 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
High-risk follicular lymphomas harbour more somatic mutations including those in the AID-motif.
Tsukamoto T et al.
Scientific Reports, 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
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
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
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing.
Woo HM et al.
Bmc Medical Genetics, 2014
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.
Miyagawa M et al.
Plos One, 2012
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.
Wagatsuma M et al.
Clinical Genetics, 2007