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Publications

Cardiac biomarkers and effects of aficamten in obstructive hypertrophic cardiomyopathy: the SEQUOIA-HCM trial.

Coats CJ. et al, (2024), European heart journal, 45, 4464 - 4478

Multiparametric CMR Evaluation of Myocardial Perfusion, Oxygenation, and Energetics in Hypertrophic Cardiomyopathy Following Cardiac Myosin Inhibitor Therapy.

Finnigan LEM. et al, (2024), European heart journal. Cardiovascular Imaging

Protein Biomarkers of Adverse Clinical Features and Events in Sarcomeric Hypertrophic Cardiomyopathy.

Tahir UA. et al, (2024), Circulation. Heart failure

AnALPK3truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten

Leinhos L. et al, (2024)

Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles.

Huffman JE. et al, (2024), Blood

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), European Journal of Human Genetics

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), European heart journal. Digital 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), The New England journal of medicine, 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), Nature genetics

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

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

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

Maron MS. et al, (2024), Journal of the American College of Cardiology

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), Circulation: Genomic and Precision Medicine

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 failure, 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 Medicine, 15

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