Associated Papers
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
RBM20 mutation and ventricular arrhythmias in a young patient with dilated cardiomyopathy: a case report.
Liatakis I et al.
American Journal of Cardiovascular Disease, 2021
Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.
Bennett JS et al.
Pediatric Cardiology, 2019
HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.
DiFrancesco JC et al.
Epilepsy Research, 2019
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?
Roberts JD et al.
Circulation. Arrhythmia and Electrophysiology, 2017
High-throughput genetic characterization of a cohort of Brugada syndrome patients.
Di Resta C et al.
Human Molecular Genetics, 2015
Arrhythmogenic KCNE gene variants: current knowledge and future challenges.
Crump SM et al.
Frontiers in Genetics, 2014
24478792 (PubMed )
Supplement: DataSheet1.DOCX
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L et al.
European Journal of Human Genetics : Ejhg, 2012
The voltage-gated channel accessory protein KCNE2: multiple ion channel partners, multiple ways to long QT syndrome.
Eldstrom J et al.
Expert Reviews in Molecular Medicine, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition.
Chevalier P et al.
Heart Rhythm, 2007
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