Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

Age-Dependent Clinical and Genetic Characteristics in Japanese Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

(2013) Seiko Ohno et al.   CIRCULATION JOURNAL

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

Cardiac sodium channel NaV1.5 distribution in myocytes via interacting proteins: The multiple pool model

(2012) Diana Shy et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Genetic testing in heritable cardiac arrhythmia syndromes

(2012) John R. Giudicessi et al.   CURRENT OPINION IN CARDIOLOGY

Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing

(2012) Lia Crotti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recommendations for the Use of Genetic Testing in the Clinical Evaluation of Inherited Cardiac Arrhythmias Associated with Sudden Cardiac Death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society Joint Position Paper

(2011) Michael H. Gollob et al.   CANADIAN JOURNAL OF CARDIOLOGY

Distinguishing Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia–Associated Mutations From Background Genetic Noise

(2011) Jamie D. Kapplinger et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Ensembl Genomes: an integrative resource for genome-scale data from non-vertebrate species

(2011) Paul J. Kersey et al.   NUCLEIC ACIDS RESEARCH

Long QT syndrome with compound mutations is associated with a more severe phenotype: A Japanese multicenter study

(2010) Hideki Itoh et al.   HEART RHYTHM

Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death

(2010) Elena Burashnikov et al.   HEART RHYTHM

A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTS

(2010) Silke Kauferstein et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy

(2010) Tianhong Xu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

(2009) Vincent Probst et al.   Circulation-Cardiovascular Genetics

Genetic Modulation of Brugada Syndrome by a Common Polymorphism

(2009) ERIC LIZOTTE et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Voltage-gated Navchannel targeting in the heart requires an ankyrin-G–dependent cellular pathway

(2008) John S. Lowe et al.   JOURNAL OF CELL BIOLOGY

Atrial proarrhythmia due to increased inward rectifier current (IK1) arising from KCNJ2 mutation – A simulation study

(2008) Sanjay Kharche et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Trafficking and Cellular Distribution of Voltage-Gated Sodium Channels

(2008) Fiona S. Cusdin et al.   TRAFFIC