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Publications

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

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

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

Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy

Yu M. et al, (2023), Circulation: Genomic and Precision Medicine

Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.

Young WJ. et al, (2023), Nature communications, 14

Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2

Broadway-Stringer S. et al, (2023), Cells

Loci for insulin processing and secretion provide insight into type 2 diabetes risk.

Broadaway KA. et al, (2023), Am J Hum Genet, 110, 284 - 299

Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy.

Aung N. et al, (2023), Circ Genom Precis Med, 16

Proteomic profiling identifies novel independent relationships between inflammatory proteins and myocardial infarction.

Valdes-Marquez E. et al, (2023), Eur J Prev Cardiol

Apolipoprotein Proteomics for Residual Lipid-Related Risk in Coronary Heart Disease.

Clarke R. et al, (2023), Circ Res

Phase 2 Study of Aficamten in Patients With Obstructive Hypertrophic Cardiomyopathy.

Maron MS. et al, (2023), J Am Coll Cardiol, 81, 34 - 45

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

Aragam KG. et al, (2022), Nat Genet

Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease

Khera AV. et al, (2022), Circulation: Genomic and Precision Medicine

A Saturated Map of Common Genetic Variants Associated with Human Height

WALTERS R. et al, (2022), Nature

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