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Publications

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

de Villiers CP. et al, (2024)

Flow inefficiencies in non-obstructive HCM revealed by left ventricular kinetic energy and hemodynamic force analysis from 4D flow CMR

Pola K. et al, (2024), European Heart Journal - Imaging Methods and Practice

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

Ormondroyd E. et al, (2024), Eur J Hum Genet

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

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

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

Coleman JA. et al, (2024), Cardiovascular research, cvae086 - cvae086

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 Journal, 38

Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans.

Hayesmoore JBG. et al, (2024), Circ Genom Precis Med

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

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

Aficamten for Drug-Refractory Severe Obstructive Hypertrophic Cardiomyopathy in Patients Receiving Disopyramide: REDWOOD-HCM Cohort 3.

Owens AT. et al, (2023), J Card Fail

Comparing the effects of chemical Ca2+ dyes and R-GECO on contractility and Ca2+ transients in adult and human iPSC cardiomyocytes.

Robinson P. et al, (2023), J Mol Cell Cardiol, 180, 44 - 57

Left ventricular anatomy in obstructive hypertrophic cardiomyopathy: beyond basal septal hypertrophy.

Hermida U. et al, (2023), Eur Heart J Cardiovasc Imaging, 24, 807 - 818

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