Contact information
Kate Thomson
Clinical Research Fellow
Recent publications
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Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS.
Clasper S. et al, (2025), Circ Genom Precis Med
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An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.
Leinhos L. et al, (2025), Sci Rep, 15
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A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
Butters A. et al, (2025), Eur Heart J
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Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
Tadros R. et al, (2025), Nat Genet, 57, 530 - 538
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Myocardial disarray and fibrosis across hypertrophic cardiomyopathy stages associate with ECG markers of arrhythmic risk.
Ashkir Z. et al, (2025), Eur Heart J Cardiovasc Imaging, 26, 218 - 228