Imperial College London

DrAngharadRoberts

Faculty of MedicineNational Heart & Lung Institute

Clinical Senior Lecturer in Cardiovascular Genetics
 
 
 
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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 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.

Publications

Journals

Owen R, Buchan R, Frenneaux M, et al., 2024, Sex differences in the clinical presentation and natural history of dilated cardiomyopathy, Jacc: Heart Failure, Vol:12, ISSN:2213-1787, Pages:352-363

Roberts AM, DiStefano MT, Riggs ER, et al., 2024, Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms., Genet Med, Vol:26

Gargano MA, Matentzoglu N, Coleman B, et al., 2024, The Human Phenotype Ontology in 2024: phenotypes around the world, Nucleic Acids Research, Vol:52, ISSN:0305-1048, Pages:D1333-D1346

DiStefano MT, Goehringer S, Babb L, et al., 2022, The Gene Curation Coalition: a global effort to harmonize gene-disease evidence resources, Genetics in Medicine, Vol:24, ISSN:1098-3600, Pages:1732-1742

Tayal U, gregson J, Buchan R, et al., 2022, Moderate excess alcohol consumption and adverse cardiac remodelling in dilated cardiomyopathy, Heart, Vol:108, ISSN:1355-6037, Pages:619-625

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