Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

(2016) Demet Tekin et al.   HEARING RESEARCH

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

(2015) Guney Bademci et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan

(2015) Chun-Wei Chu et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

(2015) Christina M Sloan-Heggen et al.   JOURNAL OF MEDICAL GENETICS

Building the foundation for genomics in precision medicine

(2015) Samuel J. Aronson et al.   NATURE

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss

(2015) A. Eliot Shearer et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

(2014) A. Eliot Shearer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations

(2014) X. Gu et al.   CLINICAL GENETICS

Enrichment of LOVD-USHbases with 152USH2AGenotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots

(2014) David Baux et al.   HUMAN MUTATION

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

(2014) Hidekane Yoshimura et al.   PLoS One

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

(2014) Zied Riahi et al.   PLoS One

Next-Generation Sequencing in Genetic Hearing Loss

(2013) Denise Yan et al.   Genetic Testing and Molecular Biomarkers

Advancing genetic testing for deafness with genomic technology

(2013) A Eliot Shearer et al.   JOURNAL OF MEDICAL GENETICS

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing

(2013) Tao Yang et al.   Orphanet Journal of Rare Diseases

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

(2012) Mojgan Babanejad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

(2012) Isabelle Schrauwen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics of Hearing and Deafness

(2012) Simon Angeli et al.   Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology

Etiologic Diagnosis of Nonsyndromic Genetic Hearing Loss in Adult vs Pediatric Populations

(2012) Peter J. King et al.   OTOLARYNGOLOGY-HEAD AND NECK SURGERY

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

(2011) Guntram Borck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Accurate and exact CNV identification from targeted high-throughput sequence data

(2011) Alex S Nord et al.   BMC GENOMICS

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans

(2011) Mohamed Ali Mosrati et al.   European Journal of Medical Genetics

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

(2011) Atteeq U. Rehman et al.   HUMAN GENETICS

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

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

(2010) Prachi Kothiyal et al.   BMC BIOTECHNOLOGY

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

Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome

(2009) Chen-Chi Wu et al.   AUDIOLOGY AND NEURO-OTOLOGY

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods

(2009) Janita Thusberg et al.   HUMAN MUTATION

Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein

(2009) Hee Keun Lee et al.   PHYSIOLOGICAL GENOMICS

Cochlear molecules and hereditary deafness

(2008) Denise Yan   Frontiers in Bioscience-Landmark

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

(2008) Zubair M Ahmed et al.   NATURE GENETICS