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Items: 28

1.

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

Bury L, Megy K, Stephens JC, Grassi L, Greene D, Gleadall N, Althaus K, Allsup D, Bariana TK, Bonduel M, Butta NV, Collins P, Curry N, Deevi SVV, Downes K, Duarte D, Elliott K, Falcinelli E, Furie B, Keeling D, Lambert MP, Linger R, Mangles S, Mapeta R, Millar CM, Penkett C, Perry DJ, Stirrups KE, Turro E, Westbury SK, Wu J, BioResource N, Gomez K, Freson K, Ouwehand WH, Gresele P, Simeoni I.

Hum Mutat. 2020 Jan;41(1):277-290. doi: 10.1002/humu.23927. Epub 2019 Oct 15.

PMID:
31562665
2.

Genetic Techniques Used in the Diagnosis of Inherited Platelet Disorders.

Mumford AD, Westbury SK.

Semin Thromb Hemost. 2019 Oct;45(7):685-694. doi: 10.1055/s-0039-1687888. Epub 2019 Apr 30.

PMID:
31041802
3.

Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.

van Oorschot R, Marneth AE, Bergevoet SM, van Bergen MGJM, Peerlinck K, Lentaigne CE, Millar CM, Westbury SK, Favier R, Erber WN, Turro E, Jansen JH, Ouwehand WH, McKinney HL; NIHR BioResource Collaborative Group, Downes K, Freson K, van der Reijden BA.

Haematologica. 2019 Jun;104(6):e260-e264. doi: 10.3324/haematol.2018.207712. Epub 2018 Dec 20. No abstract available.

4.

Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.

Westbury SK, Downes K, Burney C, Lozano ML, Obaji SG, Toh CH, Sevivas T, Morgan NV, Erber WN, Kempster C, Moore SF, Thys C, Papadia S, Ouwehand WH; NIHR BioResource–Rare Diseases, Laffan MA, Gomez K, Freson K, Rivera J, Mumford AD.

Blood Adv. 2018 Sep 25;2(18):2341-2346. doi: 10.1182/bloodadvances.2018020370. No abstract available.

5.

TUBB1 variants and human platelet traits.

Burley K, Westbury SK, Mumford AD.

Platelets. 2018 Mar;29(2):209-211. doi: 10.1080/09537104.2017.1411587. Epub 2018 Jan 15. Review. No abstract available.

PMID:
29333906
6.

ACTN1 variants associated with thrombocytopenia.

Westbury SK, Shoemark DK, Mumford AD.

Platelets. 2017 Sep;28(6):625-627. doi: 10.1080/09537104.2017.1356455. Epub 2017 Aug 31. Review. No abstract available.

PMID:
28856919
7.

Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding.

Westbury SK, Canault M, Greene D, Bermejo E, Hanlon K, Lambert MP, Millar CM, Nurden P, Obaji SG, Revel-Vilk S, Van Geet C, Downes K, Papadia S, Tuna S, Watt C; NIHR BioResource–Rare Diseases Consortium, Freson K, Laffan MA, Ouwehand WH, Alessi MC, Turro E, Mumford AD.

Blood. 2017 Aug 24;130(8):1026-1030. doi: 10.1182/blood-2017-03-776773. Epub 2017 Jun 21.

8.

Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia.

Pleines I, Woods J, Chappaz S, Kew V, Foad N, Ballester-Beltrán J, Aurbach K, Lincetto C, Lane RM, Schevzov G, Alexander WS, Hilton DJ, Astle WJ, Downes K, Nurden P, Westbury SK, Mumford AD, Obaji SG, Collins PW, Delerue F, Ittner LM, Bryce NS, Holliday M, Lucas CA, Hardeman EC, Ouwehand WH, Gunning PW, Turro E, Tijssen MR, Kile BT.

J Clin Invest. 2017 Mar 1;127(3):814-829. doi: 10.1172/JCI86154. Epub 2017 Jan 30.

9.

Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

Sivapalaratnam S, Westbury SK, Stephens JC, Greene D, Downes K, Kelly AM, Lentaigne C, Astle WJ, Huizinga EG, Nurden P, Papadia S, Peerlinck K, Penkett CJ, Perry DJ, Roughley C, Simeoni I, Stirrups K, Hart DP, Tait RC, Mumford AD; NIHR BioResource, Laffan MA, Freson K, Ouwehand WH, Kunishima S, Turro E.

Blood. 2017 Jan 26;129(4):520-524. doi: 10.1182/blood-2016-08-732248. Epub 2016 Nov 14.

10.

Altered fibrinolysis in autosomal dominant thrombomodulin-associated coagulopathy.

Burley K, Whyte CS, Westbury SK, Walker M, Stirrups KE, Turro E; NIHR BioResource, Chapman OG, Reilly-Stitt C, Mutch NJ, Mumford AD.

Blood. 2016 Oct 6;128(14):1879-1883. doi: 10.1182/blood-2016-05-716092. Epub 2016 Jul 19.

11.

Genomics of platelet disorders.

Westbury SK, Mumford AD.

Haemophilia. 2016 Jul;22 Suppl 5:20-4. doi: 10.1111/hae.12964. Review.

PMID:
27405671
12.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.

Simeoni I, Stephens JC, Hu F, Deevi SV, Megy K, Bariana TK, Lentaigne C, Schulman S, Sivapalaratnam S, Vries MJ, Westbury SK, Greene D, Papadia S, Alessi MC, Attwood AP, Ballmaier M, Baynam G, Bermejo E, Bertoli M, Bray PF, Bury L, Cattaneo M, Collins P, Daugherty LC, Favier R, French DL, Furie B, Gattens M, Germeshausen M, Ghevaert C, Goodeve AC, Guerrero JA, Hampshire DJ, Hart DP, Heemskerk JW, Henskens YM, Hill M, Hogg N, Jolley JD, Kahr WH, Kelly AM, Kerr R, Kostadima M, Kunishima S, Lambert MP, Liesner R, López JA, Mapeta RP, Mathias M, Millar CM, Nathwani A, Neerman-Arbez M, Nurden AT, Nurden P, Othman M, Peerlinck K, Perry DJ, Poudel P, Reitsma P, Rondina MT, Smethurst PA, Stevenson W, Szkotak A, Tuna S, van Geet C, Whitehorn D, Wilcox DA, Zhang B, Revel-Vilk S, Gresele P, Bellissimo DB, Penkett CJ, Laffan MA, Mumford AD, Rendon A, Gomez K, Freson K, Ouwehand WH, Turro E.

Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15.

13.

Protease-Activated Receptor 4 Variant p.Tyr157Cys Reduces Platelet Functional Responses and Alters Receptor Trafficking.

Norman JE, Cunningham MR, Jones ML, Walker ME, Westbury SK, Sessions RB, Mundell SJ, Mumford AD.

Arterioscler Thromb Vasc Biol. 2016 May;36(5):952-60. doi: 10.1161/ATVBAHA.115.307102. Epub 2016 Mar 10.

14.

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

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 SV, Favier R, Kostadima M, Lambert MP, Mathias M, Millar CM, Peerlinck K, Perry DJ, Schulman S, Whitehorn D, Wittevrongel C; BRIDGE-BPD Consortium, De Maeyer M, Rendon A, Gomez K, Erber WN, Mumford AD, Nurden P, Stirrups K, Bradley JR, Raymond FL, Laffan MA, Van Geet C, Richardson S, Freson K, Ouwehand WH.

Sci Transl Med. 2016 Mar 2;8(328):328ra30. doi: 10.1126/scitranslmed.aad7666. Epub 2016 Mar 2.

15.

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.

Stritt S, Nurden P, Turro E, Greene D, Jansen SB, Westbury SK, Petersen R, Astle WJ, Marlin S, Bariana TK, Kostadima M, Lentaigne C, Maiwald S, Papadia S, Kelly AM, Stephens JC, Penkett CJ, Ashford S, Tuna S, Austin S, Bakchoul T, Collins P, Favier R, Lambert MP, Mathias M, Millar CM, Mapeta R, Perry DJ, Schulman S, Simeoni I, Thys C; BRIDGE-BPD Consortium, Gomez K, Erber WN, Stirrups K, Rendon A, Bradley JR, van Geet C, Raymond FL, Laffan MA, Nurden AT, Nieswandt B, Richardson S, Freson K, Ouwehand WH, Mumford AD.

Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24.

16.

Validation of the Asia Pacific Colorectal Screening (APCS) score in a Western population: An alternative screening tool.

Corte C, Zhang L, Chen J, Westbury S, Shaw J, Yeoh KG, Leong R.

J Gastroenterol Hepatol. 2016 Feb;31(2):370-5. doi: 10.1111/jgh.13196.

PMID:
26485170
17.

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

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; BRIDGE-BPD Consortium.

Genome Med. 2015 Apr 9;7(1):36. doi: 10.1186/s13073-015-0151-5. eCollection 2015.

18.

Transcriptional diversity during lineage commitment of human blood progenitors.

Chen L, Kostadima M, Martens JHA, Canu G, Garcia SP, Turro E, Downes K, Macaulay IC, Bielczyk-Maczynska E, Coe S, Farrow S, Poudel P, Burden F, Jansen SBG, Astle WJ, Attwood A, Bariana T, de Bono B, Breschi A, Chambers JC, Consortium B, Choudry FA, Clarke L, Coupland P, van der Ent M, Erber WN, Jansen JH, Favier R, Fenech ME, Foad N, Freson K, van Geet C, Gomez K, Guigo R, Hampshire D, Kelly AM, Kerstens HHD, Kooner JS, Laffan M, Lentaigne C, Labalette C, Martin T, Meacham S, Mumford A, Nürnberg S, Palumbo E, van der Reijden BA, Richardson D, Sammut SJ, Slodkowicz G, Tamuri AU, Vasquez L, Voss K, Watt S, Westbury S, Flicek P, Loos R, Goldman N, Bertone P, Read RJ, Richardson S, Cvejic A, Soranzo N, Ouwehand WH, Stunnenberg HG, Frontini M, Rendon A.

Science. 2014 Sep 26;345(6204):1251033. doi: 10.1126/science.1251033.

19.

How should we test for nonsevere heritable platelet function disorders?

Norman JE, Westbury SK, Jones ML, Mumford AD.

Int J Lab Hematol. 2014 Jun;36(3):326-33. doi: 10.1111/ijlh.12211. Review.

PMID:
24750679
20.

Partial deletion of the αC-domain in the Fibrinogen Perth variant is associated with thrombosis, increased clot strength and delayed fibrinolysis.

Westbury SK, Duval C, Philippou H, Brown R, Lee KR, Murden SL, Phillips E, Reilly-Stitt C, Whalley D, Ariëns RA, Mumford AD.

Thromb Haemost. 2013 Dec;110(6):1135-44. doi: 10.1160/TH13-05-0408. Epub 2013 Sep 19.

PMID:
24048413
21.

High haematocrit in cyanotic congenital heart disease affects how fibrinogen activity is determined by rotational thromboelastometry.

Westbury SK, Lee K, Reilly-Stitt C, Tulloh R, Mumford AD.

Thromb Res. 2013 Aug;132(2):e145-51. doi: 10.1016/j.thromres.2013.07.006. Epub 2013 Jul 30.

PMID:
23906940
22.

Dysfunction of the PI3 kinase/Rap1/integrin α(IIb)β(3) pathway underlies ex vivo platelet hypoactivity in essential thrombocythemia.

Moore SF, Hunter RW, Harper MT, Savage JS, Siddiq S, Westbury SK, Poole AW, Mumford AD, Hers I.

Blood. 2013 Feb 14;121(7):1209-19. doi: 10.1182/blood-2012-05-431288. Epub 2012 Dec 13.

PMID:
23243278
23.

Giant cell granuloma with aneurysmal bone cyst change within the mandible during pregnancy: a management dilemma.

Westbury SK, Eley KA, Athanasou N, Anand R, Watt-Smith SR.

J Oral Maxillofac Surg. 2011 Apr;69(4):1108-13. doi: 10.1016/j.joms.2010.02.041. Epub 2010 Aug 6. No abstract available.

PMID:
20692086
24.

Matching surgical operating capacity to demand using estimates of operating times.

Westbury S, Pandit M, Pandit JJ.

J Health Organ Manag. 2009;23(5):554-67.

PMID:
19862882
25.

The concept of surgical operating list 'efficiency': a formula to describe the term.

Pandit JJ, Westbury S, Pandit M.

Anaesthesia. 2007 Sep;62(9):895-903.

26.

Operating room efficiency in the National Health Service.

Pandit JJ, Westbury S, Pandit M.

Anesth Analg. 2007 Jul;105(1):290-1; author reply 291-2. No abstract available.

PMID:
17579004
27.

Chorein detection for the diagnosis of chorea-acanthocytosis.

Dobson-Stone C, Velayos-Baeza A, Filippone LA, Westbury S, Storch A, Erdmann T, Wroe SJ, Leenders KL, Lang AE, Dotti MT, Federico A, Mohiddin SA, Fananapazir L, Daniels G, Danek A, Monaco AP.

Ann Neurol. 2004 Aug;56(2):299-302.

PMID:
15293285
28.

A survival strategy.

Westbury SA Jr.

Hosp Health Serv Adm. 1991 Spring;36(1):1-2. No abstract available.

PMID:
10108968

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