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Search results (78)

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Hypertrophic cardiomyopathy caused by filamin-C variants has restrictive and extracardiac features and a distinctive ECG.

de Villiers C. et al, (2026), Heart Rhythm

Titin-related familial dilated cardiomyopathy: factors associated with disease onset.

Johnson R. et al, (2025), Eur Heart J, 46, 5240 - 5257

are splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.

Butters A. et al, (2025), Eur Heart J, 46, 1446 - 1449

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, 18

An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.

Leinhos L. et al, (2025), Sci Rep, 15

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

An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten

Leinhos L. et al, (2024)

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

are splice-site variant in cardiac troponin-T (TNNT2): The need for ancestral diversity in genomic reference datasets

Butters A. et al, (2024)

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

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