Imperial College London


Faculty of MedicineNational Heart & Lung Institute

Clinical Senior Lecturer in Cardiovascular Genetics



+44 (0)20 3313 8313angharad.roberts Website




Cardiovascular Genetics and GenomicsSydney StreetRoyal Brompton Campus





Angharad is a Consultant in Clinical Geneticis at Great Ormond Street Hospital with a special interest in cardiovascular conditions; and an NHLI Research Fellow in the Cardiovascular Genetics and Genomics Group.  She is interested in the diagnosis of complex cases, delineating and understanding the variability in clinical expression of recognised syndromes (expanding the phenotype) and identifying new syndromes and diagnoses to inform both clinical practice and research.

We are have launched a community web portal - the Heart Hive - to support patient participation in research into heart muscle disease, allowing participants to self-enrol in our research, and to see what other research opportunities are available.



Zhang X, Walsh R, Whiffin N, et al., 2021, Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions, Genetics in Medicine, Vol:23, ISSN:1098-3600, Pages:69-79

Lopez-Sainz A, Dominguez F, Rocha Lopes L, et al., 2020, Clinical features and natural history of PRKAG2 variant cardiac glycogenosis, Journal of the American College of Cardiology, Vol:76, ISSN:0735-1097, Pages:186-197

Whiffin N, Karczewski KJ, Zhang X, et al., 2020, Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals, Nature Communications, Vol:11, ISSN:2041-1723, Pages:1-12

Mazzarotto F, Tayal U, Buchan RJ, et al., 2020, Re-evaluating the genetic contribution of monogenic dilated cardiomyopathy, Circulation, Vol:141, ISSN:0009-7322, Pages:387-398

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