Molecular characterization of the calcium release channel deficiency syndrome

Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community

(2020) David J. Tester et al.   JAMA Cardiology

A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia

(2017) Yusuke Fujii et al.   HEART RHYTHM

A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia

(2017) Thomas M. Roston et al.   JOURNAL OF ELECTROCARDIOLOGY

Transcription-factor-dependent enhancer transcription defines a gene regulatory network for cardiac rhythm

(2017) Xinan H Yang et al.   eLife

Cardiac Ryanodine Receptor (Ryr2)-mediated Calcium Signals Specifically Promote Glucose Oxidation via Pyruvate Dehydrogenase

(2016) Michael J. Bround et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Large Genomic Imbalances in Brugada Syndrome

(2016) Irene Mademont-Soler et al.   PLoS One

Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function

(2015) Yan-Ting Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction

(2014) S. Ohno et al.   EUROPACE

Generation and Characterization of a Mouse Model Harboring the Exon-3 Deletion in the Cardiac Ryanodine Receptor

(2014) Yingjie Liu et al.   PLoS One

Flecainide Therapy Reduces Exercise-Induced Ventricular Arrhythmias in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

(2011) Christian van der Werf et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Prevalence and Spectrum of Large Deletions or Duplications in the Major Long QT Syndrome-Susceptibility Genes and Implications for Long QT Syndrome Genetic Testing

(2010) David J. Tester et al.   AMERICAN JOURNAL OF CARDIOLOGY

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

(2009) Annukka Marjamaa et al.   BMC Medical Genetics

Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease

(2009) A.J. de Smith et al.   CYTOGENETIC AND GENOME RESEARCH

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

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

(2008) Carey-Anne Eddy et al.   HEART RHYTHM

Catecholaminergic Polymorphic Ventricular Tachycardia

(2008) Nian Liu et al.   PROGRESS IN CARDIOVASCULAR DISEASES