Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

(2022) Sean J. Jurgens et al.   NATURE GENETICS

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

(2021) Andrew R. Harper et al.   NATURE GENETICS

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

(2021) Rafik Tadros et al.   NATURE GENETICS

Time to Think Differently About Sarcomere-Negative Hypertrophic Cardiomyopathy

(2021) Hugh Watkins   CIRCULATION

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

(2021) Luis R Lopes et al.   EUROPEAN HEART JOURNAL

Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

(2021) Antonio de Marvao et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

(2021) Joseph D. Szustakowski et al.   NATURE GENETICS

Valsartan in early-stage hypertrophic cardiomyopathy: a randomized phase 2 trial

(2021) Carolyn Y. Ho et al.   NATURE MEDICINE

Comparison of risk factor associations in UK Biobank against representative, general population based studies with conventional response rates: prospective cohort study and individual participant meta-analysis

(2020) G David Batty et al.   BMJ-British Medical Journal

Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?

(2020) Francesco Mazzarotto et al.   Journal of the American Heart Association

Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial

(2020) Iacopo Olivotto et al.   LANCET

2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy

(2020) et al.   CIRCULATION

A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy

(2020) Chanatjit Cheawsamoot et al.   Circulation-Genomic and Precision Medicine

Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results from a National Biobank

(2019) Seung Hoan Choi et al.   CIRCULATION RESEARCH

Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry

(2019) Stefan Neubauer et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

(2018) Ray E. Hershberger et al.   GENETICS IN MEDICINE

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

(2018) Kate L. Thomson et al.   GENETICS IN MEDICINE

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

(2015) Ahmed A. Alfares et al.   GENETICS IN MEDICINE

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

(2008) Hiroyuki Morita et al.   NEW ENGLAND JOURNAL OF MEDICINE