Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

A prevalent founder mutation and genotype-phenotype correlations ofOTOFin Japanese patients with auditory neuropathy

(2012) T Matsunaga et al.   CLINICAL GENETICS

Genetics

(2012) A. Eliot Shearer et al.   CURRENT OPINION IN PEDIATRICS

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

(2012) Sedigheh Delmaghani et al.   HUMAN MOLECULAR GENETICS

Structure of a force-conveying cadherin bond essential for inner-ear mechanotransduction

(2012) Marcos Sotomayor et al.   NATURE

Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study

(2012) Maiko Miyagawa et al.   PLoS One

High-throughput sequencing to decipher the genetic heterogeneity of deafness

(2012) Zippora Brownstein et al.   GENOME BIOLOGY

Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

(2011) Margit Schraders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with  -tectorin and is mutated in autosomal dominant hearing loss (DFNA4)

(2011) J. Zheng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure of MyTH4-FERM Domains in Myosin VIIa Tail Bound to Cargo

(2011) L. Wu et al.   SCIENCE

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

Profound Deafness in Childhood

(2010) Andrej Kral 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

Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome

(2009) Tao Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

(2009) Matías Morín et al.   HUMAN MOLECULAR GENETICS

A FERM domain autoregulates Drosophila myosin 7a activity

(2009) Y. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Missense mutations inPOU4F3cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

(2008) Rob W.J. Collin et al.   HUMAN MUTATION