Associated Papers
Targeted sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.
Zhou Z et al.
Biomedical Reports, 2025
40322553 (PubMed )
Supplement: Supplementary_Data3.xlsx › Table_S2
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
38111038 (PubMed )
Supplement: 13073_2023_1271_MOESM1_ESM.xlsx › Table_S3
Mechanoelectrical transduction-related genetic forms of hearing loss.
Jung J et al.
Current Opinion in Physiology, 2023
How Transmembrane Inner Ear (TMIE) plays role in the auditory system: A mystery to us.
Farhadi M et al.
Journal of Cellular and Molecular Medicine, 2021
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.
Park HR et al.
Molecular Biology Reports, 2020
Research of genetic bases of hereditary non-syndromic hearing loss.
Subaşıoğlu A et al.
Turk Pediatri Arsivi, 2017
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2015
Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss.
Yang JJ et al.
International Journal of Pediatric Otorhinolaryngology, 2010
A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.
Sirmaci A et al.
Clinical Genetics, 2009
Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.
Santos RL et al.
Journal of Molecular Medicine (berlin, Germany), 2006
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.
Naz S et al.
American Journal of Human Genetics, 2002
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