Associated Papers
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Molecular and Clinical Characterization of a Cohort of Autosomal Recessive Sensorineural Hearing Loss in Egyptian Patients.
Sayed-Ahmed MM et al.
Journal of Molecular Neuroscience : Mn, 2024
Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III.
Huggins E et al.
Molecular Genetics and Metabolism Reports, 2024
Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.
Zhuri D et al.
The Journal of International Advanced Otology, 2024
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss.
Liu S et al.
Genome Medicine, 2023
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
Ramzan M et al.
Journal of Human Genetics, 2023
Mechanoelectrical transduction-related genetic forms of hearing loss.
Jung J et al.
Current Opinion in Physiology, 2023
Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.
Aboagye ET et al.
Genes, 2023
Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness.
Rayat S et al.
Bmc Medical Genomics, 2022
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.
Mohseni M et al.
Clinical Genetics, 2021
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
Two patients with glutaric aciduria type 3: a novel mutation and brain magnetic resonance imaging findings.
Dorum S et al.
The Turkish Journal of Pediatrics, 2020
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Research of genetic bases of hereditary non-syndromic hearing loss.
Subaşıoğlu A et al.
Turk Pediatri Arsivi, 2017
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Yan D et al.
Human Genetics, 2016
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Bademci G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.
Yan D et al.
Genetic Testing and Molecular Biomarkers, 2015
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
Atik T et al.
Plos One, 2015
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
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
Screening of 38 genes identifies mutations in 62% of families with nonsyndromic deafness in Turkey.
Duman D et al.
Genetic Testing and Molecular Biomarkers, 0
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