Associated Papers
Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors.
Brand F et al.
Acta Neuropathologica, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.
Kraatari-Tiri M et al.
International Journal of Audiology, 2025
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.
Zhang L et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2024
A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family.
Zeng B et al.
Chinese Medical Journal, 2022
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.
Kraatari-Tiri M et al.
Journal of Clinical Medicine, 2022
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
García-García G et al.
Genes, 2020
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.
Zardadi S et al.
Molecular Genetics & Genomic Medicine, 2020
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2020
Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.
Wang H et al.
Molecular Genetics & Genomic Medicine, 2018
Recessive mutations of TMC1 associated with moderate to severe hearing loss.
Imtiaz A et al.
Neurogenetics, 2016
A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
Bakhchane A et al.
Gene, 2015
Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation.
Kawashima Y et al.
Pflugers Archiv : European Journal of Physiology, 2015
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.
Nakanishi H et al.
Auris, Nasus, Larynx, 2014
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.
Schrauwen I et al.
American Journal of Medical Genetics. Part A, 2013
Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.
Gao X et al.
Plos One, 2013
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.
de Heer AM et al.
Audiology & Neuro-otology, 2011