An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome
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Title
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome
Authors
Keywords
-
Journal
CIRCULATION
Volume 141, Issue 6, Pages 418-428
Publisher
Ovid Technologies (Wolters Kluwer Health)
Online
2020-01-27
DOI
10.1161/circulationaha.119.043132
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- (2016) Arnon Adler et al. Circulation-Arrhythmia and Electrophysiology
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- (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
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- (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
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- (2014) N. Makita et al. Circulation-Cardiovascular Genetics
- Guidelines for investigating causality of sequence variants in human disease
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- Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants
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- 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
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