Associated Papers
A novel frameshift variant in the TMPRSS3 gene causes nonsyndromic hearing loss in a consanguineous family.
Rezaie N et al.
Bmc Medical Genomics, 2024
Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Nisenbaum E et al.
Audiology & Neuro-otology, 2023
TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling.
Moon IS et al.
Frontiers in Genetics, 2021
Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome.
Zhang Q et al.
Human Heredity, 2020
Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.
Ołdak M et al.
Journal of Translational Medicine, 2019
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.
Leone MP et al.
Molecular and Cellular Probes, 2017
Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen.
Lechowicz U et al.
Scientific Reports, 2017
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
Battelino S 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, 2016
Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.
Lechowicz U 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, 2016
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0