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Search results (76)

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Hypertrophic cardiomyopathy caused by Filamin-C (FLNC) 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

The value of large-scale programmes in human genomics.

Horn R. et al, (2025), Eur J Hum Genet, 33, 563 - 569

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

Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings.

Zheng SL. et al, (2025), Nat Genet, 57, 563 - 571

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

Leinhos L. et al, (2024)

Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project.

Ormondroyd E. et al, (2024), Eur J Hum Genet, 32, 1045 - 1052

dditional findings from the 100,000 Genomes Project: A qualitative study of recipient perspectives.

Nolan JJ. et al, (2024), Genet Med, 26

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

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT. et al, (2023), Genome Med, 15

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

Direct-to-consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services.

Nolan JJ. and Ormondroyd E., (2023), Clin Genet, 104, 3 - 21

A practical checklist for return of results from genomic research in the European context.

Vears DF. et al, (2023), Eur J Hum Genet, 31, 687 - 695

Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services

Nolan J. and ORMONDROYD E., (2023), Clinical Genetics: an international journal of genetics and molecular medicine

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