Associated Papers
Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.
Martínez-Barrios E et al.
International Journal of Molecular Sciences, 2026
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
Role of non-coding variants in cardiovascular disease.
Heshmatzad K et al.
Journal of Cellular and Molecular Medicine, 2023
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.
O'Neill MJ et al.
Circulation. Genomic and Precision Medicine, 2022
Novel SCN5A and GPD1L Variants Identified in Two Unrelated Han-Chinese Patients With Clinically Suspected Brugada Syndrome.
Yuan M et al.
Frontiers in Cardiovascular Medicine, 2021
Screening for Fabry disease in patients with left ventricular noncompaction.
Azevedo O et al.
Revista Portuguesa De Cardiologia, 2019
Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome.
Salman OF et al.
Frontiers in Cardiovascular Medicine, 2018
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.
Frisso G et al.
International Journal of Molecular Sciences, 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study).
Jiménez-Jáimez J et al.
The American Journal of Cardiology, 2015
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
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