Exome analysis in 34 sudden unexplained death (SUD) victims mainly identified variants in channelopathy-associated genes

Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases

(2017) Jacqueline Neubauer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the YoungCLINICAL PERSPECTIVE

(2016) Jason H. Anderson et al.   Circulation-Cardiovascular Genetics

Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting

(2016) Sofie Lindgren Christiansen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases

(2016) Jacqueline Neubauer et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

(2016) Richard D. Bagnall et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the YoungCLINICAL PERSPECTIVE

(2016) Jason H. Anderson et al.   Circulation-Cardiovascular Genetics

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy

(2016) Nina Nouhravesh et al.   Molecular Genetics & Genomic Medicine

Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood

(2015) Montserrat Santori et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval

(2015) Jonas Ghouse et al.   EUROPEAN HEART JOURNAL

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

Characterization of SEMA3A -Encoded Semaphorin as a Naturally Occurring K v 4.3 Protein Inhibitor and its Contribution to Brugada Syndrome

(2014) Nicole J. Boczek et al.   CIRCULATION RESEARCH

AKAP9 Is a Genetic Modifier of Congenital Long-QT Syndrome Type 1

(2014) C. P. de Villiers et al.   Circulation-Cardiovascular Genetics

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

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

Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases

(2014) C. L. Hertz et al.   INTERNATIONAL JOURNAL OF LEGAL MEDICINE

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Post-mortem Whole Exome Sequencing with Gene-Specific Analysis for Autopsy-Negative Sudden Unexplained Death in the Young: A Case Series

(2014) Nupoor Narula et al.   PEDIATRIC CARDIOLOGY

Confirmation of Cause and Manner of Death Via a Comprehensive Cardiac Autopsy Including Whole Exome Next-Generation Sequencing

(2013) Christina G. Loporcaro et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Genomic biomarkers of SUDEP in brain and heart

(2013) Edward Glasscock   EPILEPSY & BEHAVIOR

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

MicroRNA transcriptome profiling in cardiac tissue of hypertrophic cardiomyopathy patients with MYBPC3 mutations

(2013) Diederik W.D. Kuster et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

(2012) O. Campuzano et al.   European Journal of Medical Genetics

Cardiac channelopathies: Genetic and molecular mechanisms

(2012) Hugues Abriel et al.   GENE

Concealed Long QT Syndrome and Intractable Partial Epilepsy: A Case Report

(2012) Jason H. Anderson et al.   MAYO CLINIC PROCEEDINGS

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

The Molecular Autopsy: Should the Evaluation Continue After the Funeral?

(2012) David J. Tester et al.   PEDIATRIC CARDIOLOGY

KCNE5 ( KCNE1L ) Variants Are Novel Modulators of Brugada Syndrome and Idiopathic Ventricular Fibrillation

(2011) Seiko Ohno et al.   Circulation-Arrhythmia and Electrophysiology

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

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

(2011) Helen Swalwell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Molecular genetics of sudden cardiac death

(2008) María Sol Rodríguez-Calvo et al.   FORENSIC SCIENCE INTERNATIONAL