Classification and correlation of RYR2 missense variants in individuals with catecholaminergic polymorphic ventricular tachycardia reveals phenotypic relationships

Systematic Re-evaluation of SCN5A Variants Associated with Brugada Syndrome

(2018) Nathan C Denham et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

Sleep Medications Containing Melatonin can Potentially Induce Ventricular Arrhythmias in Structurally Normal Hearts

(2017) Lennart J. de Vries et al.   JOURNAL OF CARDIOVASCULAR PHARMACOLOGY

TECRL , a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT

(2016) Harsha D Devalla et al.   EMBO Molecular Medicine

A Prospective Study of Sudden Cardiac Death among Children and Young Adults

(2016) Richard D. Bagnall et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

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

(2014) S. Ohno et al.   EUROPACE

Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT)

(2013) Carlo Napolitano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death

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

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

Cardiac Channel Molecular Autopsy: Insights From 173 Consecutive Cases of Autopsy-Negative Sudden Unexplained Death Referred for Postmortem Genetic Testing

(2012) David J. Tester et al.   MAYO CLINIC PROCEEDINGS

Impact of Sleep on Arrhythmogenesis

(2009) Richard L. Verrier et al.   Circulation-Arrhythmia and Electrophysiology

Catecholaminergic Polymorphic Ventricular Tachycardia

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