Associated Papers
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL et al.
Hgg Advances, 2024
38219013 (PubMed )
Supplement: mmc2.xlsx › Table_S1_Variant_Controls
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G et al.
Journal of the American Heart Association, 2023
37449562 (PubMed )
Supplement: JAH3-12-e029845-s001.pdf
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
Martinez-Barrios E et al.
International Journal of Legal Medicine, 2023
36693943 (PubMed )
Supplement: 414_2023_2951_MOESM1_ESM.pdf
A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1.
Alameh M et al.
Frontiers in Physiology, 2023
36860515 (PubMed )
Supplement: Table2.xlsx › missense_variants
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
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
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
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
Post-mortem genetic analysis in juvenile cases of sudden cardiac death.
Campuzano O et al.
Forensic Science International, 2014
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