Associated Papers
Spectrum of genetic variants detected in children tested for long QT syndrome.
Kemezyte A et al.
Bmc Cardiovascular Disorders, 2025
Cancer-associated loss-of-function mutations in KCNQ1 enhance Wnt/β-catenin signalling disrupting epithelial homeostasis.
Berenguier C et al.
Oncogene, 2025
40410368 (PubMed )
Supplement: 41388_2025_3447_MOESM1_ESM.docx
Plasma Metabolic Outliers Identified in Estonian Human Knockouts.
Yu K et al.
Metabolites, 2025
40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S4
Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.
Lin Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019
30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
Stattin EL et al.
Bmc Cardiovascular Disorders, 2012
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