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

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

(2011) Michael S. Hildebrand et al.   HUMAN MUTATION

Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51

(2010) Tom Walsh 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

SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors

(2010) Rodrigo Goya et al.   BIOINFORMATICS

Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84

(2010) H. Shahin et al.   JOURNAL OF MEDICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

(2010) Tom Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hearing Loss: Mechanisms Revealed by Genetics and Cell Biology

(2009) Amiel A. Dror et al.   Annual Review of Genetics

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

(2009) Hashem Shahin et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

(2009) Aslı Sırmacı et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Mutations in the first MyTH4 domain ofMYO15Aare a common cause of DFNB3 hearing loss

(2009) A. Eliot Shearer et al.   LARYNGOSCOPE

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Deafness Genes in Israel: Implications for Diagnostics in the Clinic

(2009) Zippora Brownstein et al.   PEDIATRIC RESEARCH

Enrichment of sequencing targets from the human genome by solution hybridization

(2009) Ryan Tewhey et al.   GENOME BIOLOGY

A Novel SLC26A4 (PDS) Deafness Mutation Retained in the Endoplasmic Reticulum

(2008) Zippora N. Brownstein et al.   ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY

Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in theWFS1gene

(2008) R. Valro et al.   DIABETIC MEDICINE

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

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