Next-generation sequencing of 100 candidate genes in young victims of suspected sudden cardiac death with structural abnormalities of the heart

Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases

(2015) Christin Loeth Hertz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Orchestrating high-throughput genomic analysis with Bioconductor

(2015) Wolfgang Huber et al.   NATURE METHODS

Burden of Sudden Cardiac Death in Persons Aged 1 to 49 Years

(2014) Bjarke Risgaard et al.   Circulation-Arrhythmia and Electrophysiology

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies

(2014) Gilles Millat et al.   CLINICA CHIMICA ACTA

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: Results of a systematic screening

(2014) Nathalie Roux-Buisson et al.   HEART RHYTHM

Exome analysis–based molecular autopsy in cases of sudden unexplained death in the young

(2014) Richard D. Bagnall et al.   HEART RHYTHM

Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

(2013) Kirk E. Lohmueller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sudden Cardiac Death With Autopsy Findings of Uncertain Significance

(2013) Michael Papadakis et al.   Circulation-Arrhythmia and Electrophysiology

Interpreting Secondary Cardiac Disease Variants in an Exome Cohort

(2013) David Ng et al.   Circulation-Cardiovascular Genetics

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

(2013) Birgit Sikkema-Raddatz et al.   HUMAN MUTATION

Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics

(2013) Olaf R F Mook et al.   JOURNAL OF MEDICAL GENETICS

Personalized genomic disease risk of volunteers

(2013) M. L. Gonzalez-Garay et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Prevalence of Mutations inKCNQ1, KCNH2,andSCN5Ain an Unselected National Cohort of Young Sudden Unexplained Death Cases

(2012) BO GREGERS WINKEL et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing

(2012) David J. Tester et al.   MAYO CLINIC PROCEEDINGS

Differential confounding of rare and common variants in spatially structured populations

(2012) Iain Mathieson et al.   NATURE GENETICS

PKP2 Mutations in Sudden Death From Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and Sudden Unexpected Death With Negative Autopsy (SUDNA)

(2011) Mingchang Zhang et al.   CIRCULATION JOURNAL

Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy

(2011) M.K. Larsen et al.   FORENSIC SCIENCE INTERNATIONAL

Mutational spectrum in the Ca2+-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances

(2011) Birgit Stallmeyer et al.   HUMAN MUTATION

Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases

(2011) Catarina Allegue et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease

(2010) Hui Liu et al.   Circulation-Cardiovascular Genetics

Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed Modification of the Task Force Criteria

(2010) F. I. Marcus et al.   EUROPEAN HEART JOURNAL

Strategy for clinical evaluation and screening of sudden cardiac death relatives

(2010) Laura Ferrero-Miliani et al.   FUNDAMENTAL & CLINICAL PHARMACOLOGY

A novel custom resequencing array for dilated cardiomyopathy

(2010) Rebekah S Zimmerman et al.   GENETICS IN MEDICINE

Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds

(2010) Jonathan R. Skinner et al.   HEART RHYTHM

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

Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation

(2009) Robert L. Abraham et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy

(2009) David Hassel et al.   NATURE MEDICINE

Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families

(2008) Elijah R. Behr et al.   EUROPEAN HEART JOURNAL

Left-Dominant Arrhythmogenic Cardiomyopathy

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