Imperial College London

DrAngharadRoberts

Faculty of MedicineNational Heart & Lung Institute

Clinical Research Fellow
 
 
 
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Contact

 

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

 
 
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Location

 

Cardiovascular Genetics and GenomicsSydney StreetRoyal Brompton Campus

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Summary

 

Summary

Angharad is a Clinical Geneticist with a subspecialist interest in cardiac conditions; and a postdoctoral 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 also launching 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.

Publications

Journals

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

More Publications