Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry

Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing

(2018) John R. Giudicessi et al.   CIRCULATION

Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant

(2018) Conor M. Lane et al.   HEART RHYTHM

Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation

(2017) Krystien V. Lieve et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Contemporary Outcomes in Patients With Long QT Syndrome

(2017) Ram K. Rohatgi et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Structural Basis for Gating and Activation of RyR1

(2016) Amédée des Georges et al.   CELL

Ryanodine receptors under the magnifying lens: Insights and limitations of cryo-electron microscopy and X-ray crystallography studies

(2016) Zhiguang Yuchi et al.   CELL CALCIUM

Novel CPVT-Associated Calmodulin Mutation inCALM3(CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks

(2016) Nieves Gomez-Hurtado et al.   Circulation-Arrhythmia and Electrophysiology

Predicting the Unpredictable

(2016) Peter J. Schwartz et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2016) Monkol Lek et al.   NATURE

Structural basis for the gating mechanism of the type 2 ryanodine receptor RyR2

(2016) Wei Peng et al.   SCIENCE

Catecholaminergic Polymorphic Ventricular Tachycardia in Children

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

RyR2 Common Gene Variant G1886S and the Risk of Ventricular Arrhythmias in ICD Patients with Heart Failure

(2015) PIETRO FRANCIA et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

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

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

Novel Calmodulin Mutations Associated With Congenital Arrhythmia Susceptibility

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

Structure of a mammalian ryanodine receptor

(2014) Ran Zalk et al.   NATURE

Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution

(2014) Zhen Yan et al.   NATURE

Crystal structures of wild type and disease mutant forms of the ryanodine receptor SPRY2 domain

(2014) Kelvin Lau et al.   Nature Communications

Compound and Digenic Heterozygosity Predicts Lifetime Arrhythmic Outcome and Sudden Cardiac Death in Desmosomal Gene–Related Arrhythmogenic Right Ventricular Cardiomyopathy

(2013) Ilaria Rigato et al.   Circulation-Cardiovascular Genetics

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

Type 2 Ryanodine Receptor Domain A Contains a Unique and Dynamic α-Helix That Transitions to a β-Strand in a Mutant Linked with a Heritable Cardiomyopathy

(2013) Fernando J. Amador et al.   JOURNAL OF MOLECULAR BIOLOGY

The Cardiac Ryanodine Receptor N-Terminal Region Contains an Anion Binding Site that Is Targeted by Disease Mutations

(2013) Lynn Kimlicka et al.   STRUCTURE

Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface

(2013) Lynn Kimlicka et al.   Nature Communications

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

(2012) Mette Nyegaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Abnormal Termination of Ca 2+ Release Is a Common Defect of RyR2 Mutations Associated With Cardiomyopathies

(2012) Yijun Tang et al.   CIRCULATION RESEARCH

Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations

(2012) Jamie Mullally et al.   HEART RHYTHM

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

(2012) Nathalie Roux-Buisson et al.   HUMAN MOLECULAR GENETICS

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

The Deletion of Exon 3 in the Cardiac Ryanodine Receptor Is Rescued by β Strand Switching

(2011) Paolo A. Lobo et al.   STRUCTURE

The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule

(2010) Ching-Chieh Tung et al.   NATURE