Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
Johnson R. et al, (2025), Eur Heart J
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
An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.
Leinhos L. et al, (2025), Sci Rep, 15
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
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
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
Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants.
Ma JG. et al, (2024), Circ Genom Precis Med, 17
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay.
Thomson KL. et al, (2024), HGG Adv, 5
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Nolan J. et al, (2024), Genet Med, 26
A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans.
Hayesmoore JBG. et al, (2024), Circ Genom Precis Med, 17
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA. et al, (2023), Am J Hum Genet, 110, 1482 - 1495
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Hayesmoore JB. et al, (2023), Eur J Hum Genet, 31, 1003 - 1009
Clinical interpretation ofKCNH2variants using a robust PS3/BS3 functional patch clamp assay
Thomson K. et al, (2023)
Public and patient involvement in research to support genome services development in the UK
Hunter A. et al, (2023), Journal of Translational Genetics and Genomics, 7, 17 - 26
The Genetic Basis of Primary Cardiomyopathies in Childhood: Implications for Clinical Genetic Testing.
Thomson KL. and Ormondroyd E., (2022), Circ Genom Precis Med, 15
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.
Jiang C. et al, (2022), Am J Hum Genet, 109, 1199 - 1207
Incremental value of left atrial booster and reservoir strain in predicting atrial fibrillation in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance study.
Raman B. et al, (2021), J Cardiovasc Magn Reson, 23
Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy.
Waring A. et al, (2021), J Med Genet, 58, 556 - 564