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
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
Sahlin E et al.
Plos One, 2019
30615648 (PubMed )
Supplement: pone.0210017.s002.xlsx › Sheet1
Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation.
Denti F et al.
Personalized Medicine, 2018
Investigating the Genetic Causes of Sudden Unexpected Death in Children Through Targeted Next-Generation Sequencing Analysis.
Dewar LJ et al.
Circulation. Cardiovascular Genetics, 2017
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D et al.
The Journal of Molecular Diagnostics : Jmd, 2017
Diseases caused by mutations in Nav1.5 interacting proteins.
Kyle JW et al.
Cardiac Electrophysiology Clinics, 2014
LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype.
Cheng J et al.
Cardiogenetics, 2011
Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
Cheng J et al.
Circulation. Arrhythmia and Electrophysiology, 2009
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