Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene

(2014) Dan Hu et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Gain-of-Function KCNH2 Mutations in Patients with Brugada Syndrome

(2014) QI WANG et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Importance of Clinical Analysis in the New Era of Molecular Genetic Screening∗

(2014) Wataru Shimizu   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutations in SCN10A Are Responsible for a Large Fraction of Cases of Brugada Syndrome

(2014) Dan Hu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Prevalence and Prognostic Role of Various Conduction Disturbances in Patients With the Brugada Syndrome

(2013) Philippe Maury et al.   AMERICAN JOURNAL OF CARDIOLOGY

Missense Mutations in Plakophilin-2 Cause Sodium Current Deficit and Associate With a Brugada Syndrome Phenotype

(2013) Marina Cerrone et al.   CIRCULATION

L-Type Calcium Channel Mutations in Japanese Patients With Inherited Arrhythmias

(2013) Megumi Fukuyama et al.   CIRCULATION JOURNAL

FGF12 is a candidate Brugada syndrome locus

(2013) Jessica A. Hennessey et al.   HEART RHYTHM

A Missense Mutation in the Sodium Channel β2 Subunit RevealsSCN2Bas a New Candidate Gene for Brugada Syndrome

(2013) Helena Riuró et al.   HUMAN MUTATION

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

(2013) Connie R Bezzina et al.   NATURE GENETICS

Genetic testing for inherited cardiac disease

(2013) Arthur A. M. Wilde et al.   Nature Reviews 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

Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME

(2011) P. Lindenbaum et al.   BIOINFORMATICS

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 method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

A Mutation in the β3 Subunit of the Cardiac Sodium Channel Associated With Brugada ECG Phenotype

(2009) Dan Hu et al.   Circulation-Cardiovascular Genetics

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols