Targeted gene capture and massively parallel sequencing identifyTMC1as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss

Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family withTMC1mutation identified by next-generation sequencing

(2014) Elham Davoudi-Dehaghani et al.   ACTA OTO-LARYNGOLOGICA

A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine

(2014) Se-Kyung Oh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

(2014) R. L. P. Santos-Cortez et al.   HUMAN MOLECULAR GENETICS

TBC1D24Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss

(2014) Hela Azaiez et al.   HUMAN MUTATION

A Frameshift Mutation inGRXCR2Causes Recessively Inherited Hearing Loss

(2014) Ayesha Imtiaz et al.   HUMAN MUTATION

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

(2014) Asma Behlouli et al.   Orphanet Journal of Rare Diseases

A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

(2014) Yali Zhao et al.   PLoS One

Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89

(2013) Regie Lyn P. Santos-Cortez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect

(2013) Elham Davoudi-Dehaghani et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

TMC1 and TMC2 Are Components of the Mechanotransduction Channel in Hair Cells of the Mammalian Inner Ear

(2013) Bifeng Pan et al.   NEURON

Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

(2013) Xue Gao et al.   PLoS One

Exome Sequencing and Linkage Analysis Identified Tenascin-C (TNC) as a Novel Causative Gene in Nonsyndromic Hearing Loss

(2013) Yali Zhao et al.   PLoS One

Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss

(2013) Giorgia Girotto et al.   PLoS One

An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans

(2013) Thomas J. Jaworek et al.   PLoS Genetics

A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

(2012) Isabelle Schrauwen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Low-Cost Exon Capture Method Suitable for Large-Scale Screening of Genetic Deafness by the Massively-Parallel Sequencing Approach

(2012) Wenxue Tang et al.   Genetic Testing and Molecular Biomarkers

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

(2012) Oscar Diaz-Horta et al.   PLoS One

Mechanotransduction in mouse inner ear hair cells requires transmembrane channel–like genes

(2011) Yoshiyuki Kawashima et al.   JOURNAL OF CLINICAL INVESTIGATION

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

(2011) Zippora Brownstein et al.   GENOME BIOLOGY

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

(2010) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

(2010) Atteeq Ur Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

(2010) Tom Walsh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Topology of Transmembrane Channel-like Gene 1 Protein

(2010) Valentina Labay et al.   BIOCHEMISTRY

A novel mutation adjacent to theBthmouse mutation in theTMC1gene makes this mouse an excellent model of human deafness at the DFNA36 locus

(2010) T Yang et al.   CLINICAL GENETICS

Novel genomic techniques open new avenues in the analysis of monogenic disorders

(2010) Gregor Kuhlenbäumer et al.   HUMAN MUTATION

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa

(2010) D. A. Simpson et al.   JOURNAL OF MEDICAL GENETICS

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

(2010) Ersan Kalay et al.   NATURE GENETICS

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

(2010) Kiran Musunuru et al.   NEW ENGLAND JOURNAL OF MEDICINE

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

(2010) A. E. Shearer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

(2009) N Hilgert et al.   CLINICAL GENETICS

Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment

(2009) Nele Hilgert et al.   JOURNAL OF HUMAN GENETICS

TMC1 but Not TMC2 Is Responsible for Autosomal Recessive Nonsyndromic Hearing Impairment in Tunisian Families

(2008) Abdelaziz Tlili et al.   AUDIOLOGY AND NEURO-OTOLOGY