Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance

ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation

(2018) Bruce D Gelb et al.   GENETICS IN MEDICINE

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

Role of genetic heart disease in sentinel sudden cardiac arrest survivors across the age spectrum

(2018) John R. Giudicessi et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

(2017) Keith Nykamp et al.   GENETICS IN MEDICINE

Precision Cardiovascular Medicine: State of Genetic Testing

(2017) John R. Giudicessi et al.   MAYO CLINIC PROCEEDINGS

2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death

(2017) Sana M. Al-Khatib et al.   CIRCULATION

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing

(2016) Alekhya Narravula et al.   GENETICS IN MEDICINE

Exploring the importance of case-level clinical information for variant interpretation

(2016) Jonathan S. Berg   GENETICS IN MEDICINE

J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge

(2016) Charles Antzelevitch et al.   HEART RHYTHM

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

(2016) Sara L. Van Driest et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Catecholaminergic Polymorphic Ventricular Tachycardia in Children

(2015) Thomas M. Roston et al.   Circulation-Arrhythmia and Electrophysiology

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

Genetic purgatory and the cardiac channelopathies: Exposing the variants of uncertain/unknown significance issue

(2015) Michael J. Ackerman   HEART RHYTHM

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

HRS/EHRA/APHRS Expert Consensus Statement on the Diagnosis and Management of Patients with Inherited Primary Arrhythmia Syndromes

(2013) Silvia G. Priori et al.   HEART RHYTHM

Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia

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

The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands

(2012) Miyuki Hayashi et al.   EUROPACE

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

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes

(2012) John R. Giudicessi et al.   Translational Research

Arrhythmia characterization and long-term outcomes in catecholaminergic polymorphic ventricular tachycardia

(2011) Raymond W. Sy et al.   HEART RHYTHM

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies

(2011) Michael J. Ackerman et al.   HEART RHYTHM

High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening

(2010) K. H. Haugaa et al.   EUROPACE

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Meiso Hayashi et al.   CIRCULATION

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

Ventricular ectopy during treadmill exercise stress testing in the evaluation of long QT syndrome

(2008) Justin M. Horner et al.   HEART RHYTHM