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
Zhang X, Walsh R, Whiffin N, et al.Zhang X, Walsh R, Whiffin N, Buchan R, Midwinter W, Wilk A, Govind R, Li N, Ahmad M, Mazzarotto F, Roberts A, Theotokis P, Mazaika E, Allouba M, de Marvao A, Pua CJ, Day SM, Ashley E, Colan SD, Michels M, Pereira AC, Jacoby D, Ho CY, Olivotto I, Gunnarsson GT, Jefferies J, Semsarian C, Ingles J, O’Regan DP, Aguib Y, Yacoub MH, Cook SA, Barton PJR, Bottolo L, Ware JS close, 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.Lopez-Sainz A, Dominguez F, Rocha Lopes L, Pablo Ochoa J, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Angeles Espinosa M, Beinart R, Quarta G, Cesar S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Pena-Pena ML, Navarro M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, Garcia-Alvarez MI, Bento D, Jensen MK, Mendez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada R, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P close, 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.Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Cook SA, Barton PJR, MacArthur DG, Ware JS close, 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.Mazzarotto F, Tayal U, Buchan RJ, Midwinter W, Wilk A, Whiffin N, Govind R, Mazaika E, de Marvao A, Dawes T, Felkin LE, Ahmad M, Theotokis PI, Edwards E, Ing AI, Thomson KL, Chan LLH, Sim D, Baksi AJ, Pantazis A, Roberts AM, Watkins H, Funke B, O'Regan D, Olivotto I, Barton PJR, Prasad SK, Cook SA, Ware JS, Walsh R close, 2020, Re-evaluating the genetic contribution of monogenic dilated cardiomyopathy, Circulation, Vol:141, ISSN:0009-7322, Pages:387-398
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