Associated Papers
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
40200748 (PubMed )
Supplement: IFCA_A_2484128_SM1099.xlsx › Sheet1
Integrating Clinical Phenotype With Multiomics Analyses of Human Cardiac Tissue Unveils Divergent Metabolic Remodeling in Genotype-Positive and Genotype-Negative Patients With Hypertrophic Cardiomyopathy.
Nollet EE et al.
Circulation. Genomic and Precision Medicine, 2024
38853772 (PubMed )
Supplement: hcg-17-e004369-s002.xlsx › Blad3
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
Mitochondrial dysfunction in human hypertrophic cardiomyopathy is linked to cardiomyocyte architecture disruption and corrected by improving NADH-driven mitochondrial respiration.
Nollet EE et al.
European Heart Journal, 2023
36734059 (PubMed )
Supplement: ehad028_supplementary_data.zip › Supplementary_table_1.xlsx › Blad3
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Sarquella-Brugada G et al.
Human Genetics, 2022
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
35932045 (PubMed )
Supplement: 40246_2022_402_MOESM5_ESM.xlsx › Additional_File_5
"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?
Sleiman Y et al.
Cell Death & Disease, 2021
Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Treat JA et al.
International Journal of Molecular Sciences, 2021
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
Mademont-Soler I et al.
Plos One, 2017
28771489 (PubMed )
Supplement: pone.0181465.s002.xlsx › Supplementary_Table_2
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
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: a comprehensive open reading frame mutational analysis.
Medeiros-Domingo A et al.
Journal of the American College of Cardiology, 2009
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