Angharad M. Roberts

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Angharad M. Roberts, James S. Ware, Daniel S. Herman et al. · Science Translational Medicine · 2015 · 496 citations

Life Sciences, Cardiology, Genetics +17

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 375 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +15

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

Eric Villard, Claire Perret, Françoise Gary et al. · European Heart Journal · 2011 · 351 citations · Full text

Life Sciences, Cardiology, Genetics +15

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

Francesco Mazzarotto, Upasana Tayal, Rachel Buchan et al. · Circulation · 2020 · 250 citations · Full text

Life Sciences, Cardiology, Genetics +17

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang et al. · Nature Communications · 2020 · 191 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17