The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

Rapid, scalable and highly automated HLA genotyping using next-generation sequencing: a transition from research to diagnostics

(2013) Martin Danzer et al.   BMC GENOMICS

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

(2013) Nicola Glöckle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

(2013) Charlotte Andreasen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Using Reference Databases of Genetic Variation to Evaluate the Potential Pathogenicity of Candidate Disease Variants

(2013) Kevin P. Kenna et al.   HUMAN MUTATION

Dilated Cardiomyopathy

(2012) Neal K. Lakdawala et al.   Circulation-Arrhythmia and Electrophysiology

Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era

(2012) Nadine Norton et al.   Circulation-Cardiovascular Genetics

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

(2012) Paul A. van der Zwaag et al.   EUROPEAN JOURNAL OF HEART FAILURE

Genetic Testing for Dilated Cardiomyopathy in Clinical Practice

(2012) Neal K. Lakdawala et al.   JOURNAL OF CARDIAC FAILURE

Inherited Cardiomyopathies

(2012) Polakit Teekakirikul et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Truncations of Titin Causing Dilated Cardiomyopathy

(2012) Daniel S. Herman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy

(2011) Daniel M. Jordan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)

(2011) M. J. Ackerman et al.   EUROPACE

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

(2011) P. Garcia-Pavia et al.   HEART

The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing

(2011) Samuel J. Aronson et al.   HUMAN MUTATION

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

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

(2010) Heng Li et al.   BIOINFORMATICS

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

(2010) Perry Elliott et al.   Circulation-Cardiovascular Genetics

A novel custom resequencing array for dilated cardiomyopathy

(2010) Rebekah S Zimmerman 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

Left-Dominant Arrhythmogenic Cardiomyopathy

(2008) Srijita Sen-Chowdhry et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy

(2008) Maximilian G. Posch et al.   MOLECULAR GENETICS AND METABOLISM