Publications — Radcliffe Department of Medicine

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AnALPK3truncation 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

An autosomal dominant cardiac arrhythmia syndrome, ST Depression Syndrome, is caused by thede novocreation of a cardiomyocyte enhancer

de Villiers CP. et al, (2024)

Mechanisms of ischaemia-induced arrhythmias in hypertrophic cardiomyopathy: a large-scale computational study.

Coleman JA. et al, (2024), Cardiovasc Res, 120, 914 - 926

Dosing and Safety Profile of Aficamten in Symptomatic Obstructive Hypertrophic Cardiomyopathy: Results From SEQUOIA-HCM.

Coats CJ. et al, (2024), Journal of the American Heart Association

Flow inefficiencies in non-obstructive HCM revealed by kinetic energy and hemodynamic forces on 4D-flow CMR.

Pola K. et al, (2024), Eur Heart J Imaging Methods Pract, 2

Hypertrophic cardiomyopathy detection with artificial intelligence electrocardiography in international cohorts: an external validation study.

Siontis KC. et al, (2024), Eur Heart J Digit Health, 5, 416 - 426

A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.

Ni M. et al, (2024), JAMA

Aficamten for Symptomatic Obstructive Hypertrophic Cardiomyopathy.

Maron MS. et al, (2024), N Engl J Med, 390, 1849 - 1861

Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.

Keaton JM. et al, (2024), Nat Genet

Safety and Efficacy of Metabolic Modulation With Ninerafaxstat in Patients With Nonobstructive Hypertrophic Cardiomyopathy.

Maron MS. et al, (2024), J Am Coll Cardiol

Metabolic profiling of aortic stenosis and hypertrophic cardiomyopathy identifies mechanistic contrasts in substrate utilization.

Pal N. et al, (2024), FASEB J, 38

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

Etiology and Phenotypes of Cardiomyopathy in Southern Africa: The IMHOTEP Multicenter Pilot Study

Kraus SM. et al, (2024), JACC: Advances

Exercise Capacity in Patients With Obstructive Hypertrophic Cardiomyopathy: SEQUOIA-HCM Baseline Characteristics and Study Design.

Coats CJ. et al, (2024), JACC Heart Fail, 12, 199 - 215

Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.

Curran L. et al, (2023), Circ Genom Precis Med

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

GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification.

Lagou V. et al, (2023), Nat Genet, 55, 1448 - 1461

Novel insights into diminished cardiac reserve in non-obstructive hypertrophic cardiomyopathy from four-dimensional flow cardiac magnetic resonance component analysis.

Ashkir Z. et al, (2023), Eur Heart J Cardiovasc Imaging, 24, 1192 - 1200

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