Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies

(2015) Oscar Campuzano et al.   Scientific Reports

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

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

Genetic Background of Catecholaminergic Polymorphic Ventricular Tachycardia in Japan

(2013) Mihoko Kawamura et al.   CIRCULATION JOURNAL

Short Read (Next-Generation) Sequencing

(2013) Jaya Punetha et al.   Circulation-Cardiovascular Genetics

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data

(2013) B Risgaard et al.   CLINICAL GENETICS

Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects

(2013) Nina E. Hasselberg et al.   EUROPACE

Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes

(2013) Silvia G. Priori et al.   EUROPACE

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

Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study

(2012) John Gomes et al.   EUROPEAN HEART JOURNAL

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

(2012) Lena Refsgaard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

(2012) Enkhsaikhan Purevjav et al.   HUMAN MOLECULAR GENETICS

Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing

(2012) Lia Crotti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

A Novel Nonsense Variant in Nav1.5 Cofactor MOG1 Eliminates Its Sodium Current Increasing Effect and May Increase the Risk of Arrhythmias

(2011) Morten S. Olesen et al.   CANADIAN JOURNAL OF CARDIOLOGY

Genetics and cardiovascular disease--causes and prevention of unexpected sudden adult death: the role of the SADS clinic

(2011) L. M. Nunn et al.   HEART

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

(2011) P. Garcia-Pavia et al.   HEART

Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy

(2011) Marwan M. Refaat et al.   HEART RHYTHM

Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6

(2011) P. G. Postema et al.   Netherlands Heart Journal

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

(2010) Veronique Fressart et al.   EUROPACE

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death

(2010) Elena Burashnikov et al.   HEART RHYTHM

Risk for Life-Threatening Cardiac Events in Patients With Genotype-Confirmed Long-QT Syndrome and Normal-Range Corrected QT Intervals

(2010) Ilan Goldenberg et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644C

(2008) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A