Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

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

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

Population-Genetic Influences on Genomic Estimates of the Inbreeding Coefficient: A Global Perspective

(2014) Trevor J. Pemberton et al.   HUMAN HEREDITY

Genetics of non-syndromic hearing loss in the Middle East

(2014) Hossein Najmabadi et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Copy number variants are a common cause of non-syndromic hearing loss

(2014) A Shearer et al.   Genome Medicine

Advancing genetic testing for deafness with genomic technology

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

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

(2013) Nicole Hoppman et al.   Molecular Cytogenetics

Assessing the Enrichment Performance in Targeted Resequencing Experiments

(2012) Peter Frommolt et al.   HUMAN MUTATION

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss—A twelve year study

(2012) Niloofar Bazazzadegan et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study

(2012) Shin-ichi Usami et al.   PLoS One

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

(2011) Alex S Nord et al.   BMC GENOMICS

Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

(2010) William J Kimberling et al.   GENETICS IN MEDICINE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent

(2010) Jidong Shan et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

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

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

(2010) Jeremy Goecks et al.   GENOME BIOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

(2009) Pu Dai et al.   Journal of Translational Medicine

Forty-six genes causing nonsyndromic hearing impairment: Which ones should be analyzed in DNA diagnostics?

(2008) Nele Hilgert et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH