Westbury, Sarah - University of Bristol - School of Clinical Sciences

个人简介

I qualified as a doctor from the University of Oxford in 2007, having already developed an interest in the genetics of rare diseases during an undergraduate research project. After working in and around Oxford, I moved to Bristol in 2009 and was appointed as an Academic Clinical Fellow in Haematology in 2011. I subsequently was awarded an MRC Clinical Research Training Fellowship in 2013.

研究领域

The genetic basis of inherited haematological disorders

近期论文

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Westbury, SK & Mumford, AD, 2016, ‘Genomics of platelet disorders’. Haemophilia, vol 22., pp. 20-24 Burley, K, Whyte, CS, Westbury, SK, Walker, M, Stirrups, KE, Turro, E, BioResource, N, Chapman, OG, Reilly-Stitt, C, Mutch, NJ & Mumford, AD, 2016, ‘Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy’. Blood. Norman, JE, Cunningham, MR, Jones, ML, Walker, ME, Westbury, SK, Sessions, RB, Mundell, SJ & Mumford, AD, 2016, ‘Protease-Activated Receptor 4 Variant p.Tyr157Cys Reduces Platelet Functional Responses and Alters Receptor Trafficking’. Arteriosclerosis, Thrombosis and Vascular Biology, vol 36., pp. 952-960 Turro, E, Greene, D, Wijgaerts, A, Thys, C, Lentaigne, C, Bariana, TK, Westbury, SK, Kelly, AM, Selleslag, D, Stephens, JC, Papadia, S, Simeoni, I, Penkett, CJ, Ashford, S, Attwood, A, Austin, S, Bakchoul, T, Collins, P, Deevi, SVV, Favier, R, Kostadima, M, Lambert, MP, Mathias, M, Millar, CM, Peerlinck, K, Perry, DJ, Schulman, S, Whitehorn, D, Wittevrongel, C, , De Maeyer, M, Rendon, A, Gomez, K, Erber, WN, Mumford, AD, Nurden, P, Stirrups, K, Bradley, JR, Raymond, FL, Laffan, MA & others 2016, ‘A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies’. Science Translational Medicine, vol 8. Westbury, SK, Turro, E, Greene, D, Lentaigne, C, Kelly, AM, Bariana, TK, Simeoni, I, Pillois, X, Attwood, A, Austin, S, Jansen, SB, Bakchoul, T, Crisp-Hihn, A, Erber, WN, Favier, R, Foad, N, Gattens, M, Jolley, JD, Liesner, R, Meacham, S, Millar, CM, Nurden, AT, Peerlinck, K, Perry, DJ, Poudel, P, Schulman, S, Schulze, H, Stephens, JC, Furie, B, Robinson, PN, van Geet, C, Rendon, A, Gomez, K, Laffan, MA, Lambert, MP, Nurden, P, Ouwehand, WH, Richardson, S, Mumford, AD, Freson, K & others 2015, ‘Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders’. Genome Medicine, vol 7., pp. 36 Norman, JE, Westbury, SK, Jones, ML & Mumford, AD, 2014, ‘How should we test for nonsevere heritable platelet function disorders?’. International Journal of Laboratory Hematology, vol 36., pp. 326-33 Westbury, SK, Lee, K, Reilly-Stitt, C, Tulloh, R & Mumford, AD, 2013, ‘High haematocrit in cyanotic congenital heart disease affects how fibrinogen activity is determined by rotational thromboelastometry’. Thrombosis Research. Westbury, SK, Duval, C, Philippou, H, Brown, R, Lee, KR, Murden, SL, Phillips, E, Reilly-Stitt, C, Whalley, D, Ariëns, RA & Mumford, AD, 2013, ‘Partial deletion of the αC-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysis’. Thrombosis & Haemostasis, vol 110., pp. 1135-44 Moore, SF, Hunter, RW, Harper, MT, Savage, JS, Siddiq, S, Westbury, SK, Poole, AW, Mumford, AD & Hers, I, 2012, ‘Dysfunction of the PI3 kinase/Rap1/integrin αIIbβ3 pathway underlies ex vivo platelet hypoactivity in essential thrombocythemia’. BLOOD, vol 121., pp. 1209-19 Westbury, SK, Eley, KA, Athanasou, N, Anand, R & Watt-Smith, SR, 2011, ‘Giant cell granuloma with aneurysmal bone cyst change within the mandible during pregnancy: a management dilemma’. International Journal of Oral and Maxillofacial Surgery, vol 69., pp. 1108-13