Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

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

(2020) Arnon Adler et al.   CIRCULATION

An International Multi-Center Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2 - Catecholaminergic Polymorphic Ventricular Tachycardia

(2020) Kevin Ng et al.   CIRCULATION

Molecular autopsy implicates primary carnitine deficiency in sudden unexplained death and reversible short QT syndrome

(2019) Roselle Gélinas et al.   CANADIAN JOURNAL OF CARDIOLOGY

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

(2019) Lia Crotti et al.   EUROPEAN HEART JOURNAL

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

Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome

(2017) Kasper Thorsen et al.   Nature Communications

Short QT Syndrome Manifesting with Neonatal Atrial Fibrillation and Bradycardia

(2017) Juan Villafañe et al.   CARDIOLOGY

Carnitine deficiency induces a short QT syndrome

(2016) Julien Roussel et al.   HEART RHYTHM

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia

(2016) Belinda Gray et al.   HEART RHYTHM

A newKCNQ1mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome

(2015) Cristina Moreno et al.   CARDIOVASCULAR RESEARCH

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

Gain-of-Function Mutation of the SCN5A Gene Causes Exercise-Induced Polymorphic Ventricular Arrhythmias

(2014) H. Swan et al.   Circulation-Cardiovascular Genetics

KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia

(2014) Matthew M. Kalscheur et al.   HEART RHYTHM

Genetic Background of Catecholaminergic Polymorphic Ventricular Tachycardia in Japan

(2013) Mihoko Kawamura et al.   CIRCULATION JOURNAL

Novel Insight Into the Natural History of Short QT Syndrome

(2013) Andrea Mazzanti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Phenotype Variability in Patients Carrying KCNJ2 Mutations

(2012) Hiromi Kimura et al.   Circulation-Cardiovascular Genetics

The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency

(2012) Wendy S. Rubinstein et al.   NUCLEIC ACIDS RESEARCH

Guidelines for the diagnosis and management of Catecholaminergic Polymorphic Ventricular Tachycardia

(2011) Andreas Pflaumer et al.   Heart Lung and Circulation

The Short QT Syndrome

(2011) Michael H. Gollob et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY