Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

(2012) Frauke Coppieters et al.   GENETICS IN MEDICINE

Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy

(2012) C. Alexander Valencia et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

(2011) Melanie A. Jones et al.   GENETICS IN MEDICINE

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

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

Sequence Capture and Next-Generation Resequencing of Multiple Tagged Nucleic Acid Samples for Mutation Screening of Urea Cycle Disorders

(2010) U. Amstutz et al.   CLINICAL CHEMISTRY

SNP discovery performance of two second-generation sequencing platforms in the NOD2 gene region

(2010) Espen Melum et al.   HUMAN MUTATION

Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications

(2010) Sivakumar Gowrisankar et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Next Generation Sequencing for Clinical Diagnostics-Principles and Application to Targeted Resequencing for Hypertrophic Cardiomyopathy

(2010) Karl V. Voelkerding et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

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

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

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Microdroplet-based PCR enrichment for large-scale targeted sequencing

(2009) Ryan Tewhey et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Prevalence of Mitochondrial 1555A→G Mutation in Adults of European Descent

(2009) Himesha Vandebona et al.   NEW ENGLAND JOURNAL OF MEDICINE

Deafness Genes in Israel: Implications for Diagnostics in the Clinic

(2009) Zippora Brownstein et al.   PEDIATRIC 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