Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J 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
Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.
Lee SY et al.
Cell Reports. Medicine, 2025
A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.
Rezaie N et al.
Bmc Medical Genomics, 2024
[Late-onset hereditary hearing loss caused by TMPRSS3 compound heterozygous mutations].
Wang Y et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2024
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM et al.
Human Genetics, 2024
Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Nisenbaum E et al.
Audiology & Neuro-otology, 2023
Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.
Kim SY et al.
Scientific Reports, 2022
Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.
Florentine MM et al.
Human Genetics, 2022
Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.
Kim SY et al.
Scientific Reports, 2021
TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.
Moon IS et al.
Frontiers in Genetics, 2021
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families.
Sang S et al.
Frontiers in Genetics, 2019
The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.
Kim AR et al.
International Journal of Molecular Sciences, 2017
Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.
Li YY et al.
Nature Communications, 2017
Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.
Gao X et al.
Biomed Research International, 2017
Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.
Gao X et al.
Neural Plasticity, 2017
The patients associated with TMPRSS3 mutations are good candidates for electric acoustic stimulation.
Miyagawa M et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J et al.
Journal of Molecular Medicine (berlin, Germany), 2014