An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry

(2019) Lia Crotti et al.   EUROPEAN HEART JOURNAL

Gene Discovery: From Biologic Plausibility to Genetic Evidence Supporting Disease Causation

(2019) Michael H. Gollob   HEART RHYTHM

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

(2018) S. Mohsen Hosseini et al.   CIRCULATION

Channelopathies That Lead to Sudden Cardiac Death: Clinical and Genetic Aspects

(2018) Jonathan R. Skinner et al.   Heart Lung and Circulation

Patient Outcomes From a Specialized Inherited Arrhythmia Clinic

(2016) Arnon Adler et al.   Circulation-Arrhythmia and Electrophysiology

Spectrum and Prevalence ofCALM1-,CALM2-, andCALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141GCLINICAL PERSPECTIVE

(2016) Nicole J. Boczek et al.   Circulation-Cardiovascular Genetics

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes

(2016) Daniel C. Pipilas et al.   HEART RHYTHM

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

(2016) Monkol Lek et al.   NATURE

Genetic Misdiagnoses and the Potential for Health Disparities

(2016) Arjun K. Manrai et al.   NEW ENGLAND JOURNAL OF MEDICINE

Conserved properties of individual Ca2+-binding sites in calmodulin

(2016) D. Brent Halling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Spectrum and Prevalence ofCALM1-,CALM2-, andCALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141GCLINICAL PERSPECTIVE

(2016) Nicole J. Boczek et al.   Circulation-Cardiovascular Genetics

Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome

(2015) H. M. Altmann et al.   CIRCULATION

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

CALM3 mutation associated with long QT syndrome

(2015) Griffin J. Reed et al.   HEART RHYTHM

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

(2015) CAROLINE ROORYCK et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

ClinGen — The Clinical Genome Resource

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

Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility

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

Guidelines for investigating causality of sequence variants in human disease

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

Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants

(2013) Lia Crotti et al.   CIRCULATION

Recommendations for the Use of Genetic Testing in the Clinical Evaluation of Inherited Cardiac Arrhythmias Associated with Sudden Cardiac Death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society Joint Position Paper

(2011) Michael H. Gollob et al.   CANADIAN JOURNAL OF CARDIOLOGY

A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes

(2011) Stefan Kääb et al.   Circulation-Cardiovascular Genetics

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

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

Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome

(2010) Yanzong Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence of the Congenital Long-QT Syndrome

(2009) Peter J. Schwartz et al.   CIRCULATION

NOS1AP Is a Genetic Modifier of the Long-QT Syndrome

(2009) Lia Crotti et al.   CIRCULATION