Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants

An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants

(2016) Jeffrey Kleinberger et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death

(2015) Silvia G. Priori 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

Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients

(2015) Seiko Ohno et al.   PLoS One

Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility

(2014) N. Makita et al.   Circulation-Cardiovascular Genetics

A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia

(2014) Junko Arakawa et al.   HEART AND VESSELS

Genetic Background of Catecholaminergic Polymorphic Ventricular Tachycardia in Japan

(2013) Mihoko Kawamura et al.   CIRCULATION JOURNAL

Phospholamban Knockout Breaks Arrhythmogenic Ca 2+ Waves and Suppresses Catecholaminergic Polymorphic Ventricular Tachycardia in Mice

(2013) Yunlong Bai et al.   CIRCULATION RESEARCH

New Exome Data Question the Pathogenicity of Genetic Variants Previously Associated With Catecholaminergic Polymorphic Ventricular Tachycardia

(2013) Javad Jabbari et al.   Circulation-Cardiovascular 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

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Impact of Genetics on the Clinical Management of Channelopathies

(2013) Peter J. Schwartz et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia

(2012) Christian van der Werf et al.   Circulation-Arrhythmia and Electrophysiology

Catecholaminergic Polymorphic Ventricular Tachycardia

(2012) Antoine Leenhardt et al.   Circulation-Arrhythmia and Electrophysiology

Action and the Actionability in Exome Variation

(2012) Calum A. MacRae   Circulation-Cardiovascular Genetics

Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome

(2012) John R. Giudicessi et al.   Circulation-Cardiovascular Genetics

Catecholaminergic polymorphic ventricular tachycardia found in an adolescent after a methylenedioxymethamphetamine and marijuana-induced cardiac arrest

(2012) Matt Diffley et al.   CRITICAL CARE MEDICINE

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

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

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

(2012) Nathalie Roux-Buisson et al.   HUMAN MOLECULAR GENETICS

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

Catecholaminergic Polymorphic Ventricular Tachycardia in a Patient With Recurrent Exertional Syncope

(2012) Na Young Kim et al.   Korean Circulation Journal

Probing cationic selectivity of cardiac calsequestrin and its CPVT mutants

(2011) Naresh C. Bal et al.   BIOCHEMICAL JOURNAL

Dantrolene rescues arrhythmogenic RYR2 defect in a patient-specific stem cell model of catecholaminergic polymorphic ventricular tachycardia

(2011) Christian B. Jung et al.   EMBO Molecular Medicine

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

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management

(2011) Nathalie Roux-Buisson et al.   HUMAN MUTATION

Modulation of Human Ether A Gogo Related Channels by CASQ2 Contributes to Etiology of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

(2010) Karina Eckey et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy

(2010) Yvonne M. Hoedemaekers et al.   Circulation-Cardiovascular Genetics

Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia

(2009) Annukka Marjamaa et al.   BMC Medical Genetics

Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia

(2009) Meiso Hayashi et al.   CIRCULATION

Ryanodine receptor (RyR2) mutations in sudden cardiac death: Studies in extended pedigrees and phenotypic characterization in vitro

(2009) Annukka Marjamaa et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

(2009) Argelia Medeiros-Domingo et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Crystal Structures of the N-Terminal Domains of Cardiac and Skeletal Muscle Ryanodine Receptors: Insights into Disease Mutations

(2009) Paolo Antonio Lobo et al.   STRUCTURE

A Case of Catecholaminergic Polymorphic Ventricular Tachycardia Caused by Two Calsequestrin 2 Mutations

(2008) SAM DE LA FUENTE et al.   PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY

Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers

(2008) K. E. Berge et al.   SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION