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

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

(2012) Sarah De Keulenaer et al.   BMC Medical Genomics

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

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted next-generation sequencing: microdroplet PCR approach for variant detection in research and clinical samples

(2011) Matthew J Huentelman   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

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

Hearing loss: a common disorder caused by many rare alleles

(2010) Dorith Raviv et al.   Annals of the New York Academy of Sciences

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

(2010) Anne-Martine R. de Heer et al.   AUDIOLOGY AND NEURO-OTOLOGY

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

(2010) Prachi Kothiyal et al.   BMC BIOTECHNOLOGY

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey 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

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

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

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

(2009) Prateek Kumar et al.   Nature Protocols

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A novel nonsense mutation inMYO6is associated with progressive nonsyndromic hearing loss in a DanishDFNA22family

(2008) Kirsten M. Sanggaard et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutation profile of theCDH23 gene in 56 probands with Usher syndrome type I

(2008) A. Oshima et al.   HUMAN MUTATION

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

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families

(2007) Fatemeh Alasti et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY