Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

(2016) Richard D. Bagnall et al.   ANNALS OF NEUROLOGY

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

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

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

Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives

(2015) C. Semsarian 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

Robustness of Next Generation Sequencing on Older Formalin-Fixed Paraffin-Embedded Tissue

(2015) Danielle Mercatante Carrick et al.   PLoS One

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

(2015) Angharad M. Roberts et al.   Science Translational Medicine

Comparison of Accuracy of Whole-Exome Sequencing with Formalin-Fixed Paraffin-Embedded and Fresh Frozen Tissue Samples

(2015) Ensel Oh et al.   PLoS One

Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine

(2014) Eliezer M Van Allen et al.   NATURE MEDICINE

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

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

(2013) Berivan Baskin et al.   HUMAN GENETICS

The long-term risk of premature mortality in people with epilepsy

(2011) A. Neligan et al.   BRAIN

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

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

(2010) Heng Li et al.   BIOINFORMATICS

Nationwide study of sudden cardiac death in persons aged 1–35 years

(2010) Bo Gregers Winkel et al.   EUROPEAN HEART JOURNAL

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

The magnitude of sudden cardiac death in the young: a death certificate-based review in England and Wales

(2009) M. Papadakis et al.   EUROPACE

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

(2009) David Hassel et al.   NATURE MEDICINE

Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy

(2008) Sharie B. Parks et al.   AMERICAN HEART JOURNAL

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

(2008) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS