Publications — Radcliffe Department of Medicine

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Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.

Baxley RM. et al, (2021), Nat Commun, 12

Rationale and design of the African Cardiomyopathy and Myocarditis Registry Program: The IMHOTEP study.

Kraus SM. et al, (2021), Int J Cardiol

Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.

Lagou V. et al, (2021), Nat Commun, 12

Functional analysis of a gene-edited mouse to gain insights into the disease mechanisms of a titin missense variant

JIANG H. et al, (2021), Basic Research in Cardiology

Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals.

Whiffin N. et al, (2021), Nat Commun, 12

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

Harper AR. et al, (2021), Nat Genet

Author Correction: The effect of LRRK2 loss-of-function variants in humans.

Whiffin N. et al, (2021), Nat Med

Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome.

McGurk KA. et al, (2021), Hum Mol Genet

Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.

Lagou V. et al, (2021), Nat Commun, 12

Author Correction: A structural variation reference for medical and population genetics (Nature, (2020), 581, 7809, (444-451), 10.1038/s41586-020-2287-8)

Collins RL. et al, (2021), Nature

Author Correction: Evaluating drug targets through human loss-of-function genetic variation (Nature, (2020), 581, 7809, (459-464), 10.1038/s41586-020-2267-z)

Minikel EV. et al, (2021), Nature

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans (Nature, (2020), 581, 7809, (434-443), 10.1038/s41586-020-2308-7)

Karczewski KJ. et al, (2021), Nature

Author Correction: Transcript expression-aware annotation improves rare variant interpretation (Nature, (2020), 581, 7809, (452-458), 10.1038/s41586-020-2329-2)

Cummings BB. et al, (2021), Nature

Lp(a) (Lipoprotein[a]), an Exemplar for Precision Medicine: Insights From UK Biobank.

Hopewell JC. et al, (2021), Arterioscler Thromb Vasc Biol, 41, 475 - 477

Genetic Predisposition to Coronary Artery Disease in Type 2 Diabetes Mellitus.

van Zuydam NR. et al, (2020), Circ Genom Precis Med, 13

Myocardial Deformation Analysis in Hypertrophic Cardiomyopathy With Sarcomere Mutations: Insights From 2,221 Patients Within the NHLBI-HCM Registry

Heydari B. et al, (2020), CIRCULATION, 142

Heterozygous ABCG5 Gene Deficiency and Risk of Coronary Artery Disease.

Nomura A. et al, (2020), Circ Genom Precis Med, 13, 417 - 423

Heritability of haemodynamics in the ascending aorta.

McGurk KA. et al, (2020), Sci Rep, 10

Why does Russia have such high cardiovascular mortality rates? Comparisons of blood-based biomarkers with Norway implicate non-ischaemic cardiac damage.

Lakunchykova O. et al, (2020), J Epidemiol Community Health, 74, 698 - 704

Dilated cardiomyopathy mutations in thin-filament regulatory proteins reduce contractility, suppress systolic Ca2+, and activate NFAT and Akt signaling.

Robinson P. et al, (2020), Am J Physiol Heart Circ Physiol, 319, H306 - H319

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