Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia

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

High Prevalence of Long QT Syndrome–Associated SCN5A Variants in Patients With Early-Onset Lone Atrial Fibrillation

(2012) Morten S. Olesen et al.   Circulation-Cardiovascular Genetics

Paralogous annotation of disease-causing variants in long QT syndrome genes

(2012) James S. Ware et al.   HUMAN MUTATION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

IUPHAR-DB: new receptors and tools for easy searching and visualization of pharmacological data

(2010) Joanna L. Sharman et al.   NUCLEIC ACIDS RESEARCH

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

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

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

The genetic basis of Brugada syndrome: A mutation update

(2009) Paula L. Hedley et al.   HUMAN MUTATION

The genetic basis of long QT and short QT syndromes: A mutation update

(2009) Paula L. Hedley et al.   HUMAN MUTATION

The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

(2009) Argelia Medeiros-Domingo et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

(2009) Prateek Kumar et al.   Nature Protocols

Coding Sequence Mutations Identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 Patients with Familial or Idiopathic Dilated Cardiomyopathy

(2008) Ray E. Hershberger et al.   CTS-Clinical and Translational Science