Associated Papers
Dual Genetic Diagnosis of Prader-Willi Syndrome and TMC1-Related Severe Congenital Hearing Loss: Diagnostic Challenges and Cochlear Implant Outcomes.
Samara P et al.
Diagnostics (basel, Switzerland), 2026
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
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
Ray M et al.
Journal of Pediatric Genetics, 2022
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
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Structural relationship between the putative hair cell mechanotransduction channel TMC1 and TMEM16 proteins.
Ballesteros A et al.
Elife, 2018
Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.
Wang H et al.
Molecular Genetics & Genomic Medicine, 2018
Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss.
Hu J et al.
Journal of Translational Medicine, 2016
A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
Bakhchane A et al.
Gene, 2015
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Rehman AU et al.
European Journal of Human Genetics : Ejhg, 2015
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2015
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.
Nakanishi H et al.
Auris, Nasus, Larynx, 2014
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.
Shafique S et al.
Plos One, 2014
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
Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.
Sirmaci A et al.
International Journal of Pediatric Otorhinolaryngology, 2009
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
Santos RL et al.
Human Mutation, 2005