Short-coupled ventricular fibrillation represents a distinct phenotype among latent causes of unexplained cardiac arrest: a report from the CASPER registry

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

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

Quinidine-Responsive Polymorphic Ventricular Tachycardia in Patients with Coronary Heart Disease

(2019) Sami Viskin et al.   CIRCULATION

Incidence and predictors of implantable cardioverter-defibrillator therapy and its complications in idiopathic ventricular fibrillation patients

(2019) Lennart J Blom et al.   EUROPACE

Mapping and Ablation of Ventricular Fibrillation Associated with Early Repolarization Syndrome

(2019) Koonlawee Nademanee et al.   CIRCULATION

Out-of-hospital cardiac arrest due to idiopathic ventricular fibrillation in patients with normal electrocardiograms: results from a multicentre long-term registry

(2019) Giulio Conte et al.   EUROPACE

Quinidine-responsive out-of-hospital polymorphic ventricular tachycardia in patients with coronary heart disease

(2019) Sami Viskin et al.   EUROPACE

Localized Structural Alterations Underlying a Subset of Unexplained Sudden Cardiac Death

(2018) Michel Haïssaguerre et al.   Circulation-Arrhythmia and Electrophysiology

Four TRPM4 Cation Channel Mutations Found in Cardiac Conduction Diseases Lead to Altered Protein Stability

(2018) Beatrice Bianchi et al.   Frontiers in Physiology

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

Next-generation sequencing of a large gene panel in patients initially diagnosed with idiopathic ventricular fibrillation

(2017) Marloes Visser et al.   HEART RHYTHM

The QUIDAM study: Hydroquinidine therapy for the management of Brugada syndrome patients at high arrhythmic risk

(2017) Antoine Andorin et al.   HEART RHYTHM

Hydroquinidine Prevents Life-Threatening Arrhythmic Events in Patients With Short QT Syndrome

(2017) Andrea Mazzanti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Cardiac Abnormalities in First-Degree Relatives of Unexplained Cardiac Arrest Victims

(2016) Christian Steinberg et al.   Circulation-Arrhythmia and Electrophysiology

Idiopathic Ventricular Fibrillation

(2016) Marloes Visser et al.   Circulation-Arrhythmia and Electrophysiology

Detailed characterization of familial idiopathic ventricular fibrillation linked to the DPP6 locus

(2016) Judith N. ten Sande 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

J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge

(2016) Charles Antzelevitch et al.   HEART RHYTHM

Short-Coupled Ventricular Fibrillation: Concealed Purkinje Depolarization

(2016) GREG MELLOR et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives

(2015) C. Semsarian et al.   EUROPEAN HEART JOURNAL

Genetic defects in a His-Purkinje system transcription factor,IRX3, cause lethal cardiac arrhythmias

(2015) Akiko Koizumi et al.   EUROPEAN HEART JOURNAL

The Early Repolarization Pattern

(2015) Peter W. Macfarlane et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Use of Whole Exome Sequencing for the Identification of Ito-Based Arrhythmia Mechanism and Therapy

(2015) A. C. Sturm et al.   Journal of the American Heart Association

Nonsense Mutations in BAG3 are Associated With Early-Onset Dilated Cardiomyopathy in French Canadians

(2014) Nathalie Chami et al.   CANADIAN JOURNAL OF CARDIOLOGY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Ryanodine Receptor Mutations Presenting as Idiopathic Ventricular Fibrillation: A Report on Two Novel Familial Compound Mutations, c.6224T>C and c.13781A>G, With the Clinical Presentation of Idiopathic Ventricular Fibrillation

(2014) Christian Paech et al.   PEDIATRIC CARDIOLOGY

Unique Cardiac Purkinje Fiber Transient Outward Current β-Subunit Composition

(2013) Ling Xiao et al.   CIRCULATION RESEARCH

Ventricular fibrillation associated with complete right bundle branch block

(2013) Yoshiyasu Aizawa et al.   HEART RHYTHM

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

Quinidine, A Life-Saving Medication for Brugada Syndrome, Is Inaccessible in Many Countries

(2013) Sami Viskin et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A Mutation in CALM1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

(2013) Roos F. Marsman et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Predicting the effects of frameshifting indels

(2012) Jing Hu et al.   GENOME BIOLOGY

Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6

(2011) P. G. Postema et al.   Netherlands Heart Journal

Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation

(2009) Marielle Alders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Systematic Assessment of Patients With Unexplained Cardiac Arrest

(2009) Andrew D. Krahn et al.   CIRCULATION

Mode of onset of ventricular fibrillation in patients with early repolarization pattern vs. Brugada syndrome

(2009) G.-B. Nam et al.   EUROPEAN HEART JOURNAL

Long-Term Follow-Up of Idiopathic Ventricular Fibrillation Ablation

(2009) Sébastien Knecht et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Excellent Long-Term Reproducibility of the Electrophysiologic Efficacy of Quinidine in Patients with Idiopathic Ventricular Fibrillation and Brugada Syndrome

(2009) BERNARD BELHASSEN et al.   PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY