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Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Johnson B, Lowe GC, Futterer J, Lordkipanidzé M, MacDonald D, Simpson MA, Sanchez-Guiú I, Drake S, Bem D, Leo V, Fletcher SJ, Dawood B, Rivera J, Allsup D, Biss T, Bolton-Maggs PH, Collins P, Curry N, Grimley C, James B, Makris M, Motwani J, Pavord S, Talks K, Thachil J, Wilde J, Williams M, Harrison P, Gissen P, Mundell S, Mumford A, Daly ME, Watson SP, Morgan NV; UK GAPP Study Group. Johnson B, et al. Among authors: collins p. Haematologica. 2016 Oct;101(10):1170-1179. doi: 10.3324/haematol.2016.146316. Epub 2016 Jun 16. Haematologica. 2016. PMID: 27479822 Free PMC article.
Characterization of multiple platelet activation pathways in patients with bleeding as a high-throughput screening option: use of 96-well Optimul assay.
Lordkipanidzé M, Lowe GC, Kirkby NS, Chan MV, Lundberg MH, Morgan NV, Bem D, Nisar SP, Leo VC, Jones ML, Mundell SJ, Daly ME, Mumford AD, Warner TD, Watson SP; UK Genotyping and Phenotyping of Platelets Study Group. Lordkipanidzé M, et al. Blood. 2014 Feb 20;123(8):e11-22. doi: 10.1182/blood-2013-08-520387. Epub 2014 Jan 9. Blood. 2014. PMID: 24408324 Free PMC article.
A national survey of immunosuppression strategies for acquired haemophilia A.
Batty P, Palmer B, Chalmers E, Hay CR, Liesner R, Rangarajan S, Talks K, Williams M, Collins P, Hart DP. Batty P, et al. Among authors: collins p. Haemophilia. 2015 Jan;21(1):e73-6. doi: 10.1111/hae.12547. Epub 2014 Nov 24. Haemophilia. 2015. PMID: 25422109 No abstract available.
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. Stritt S, et al. Among authors: collins p. Blood. 2016 Jun 9;127(23):2903-14. doi: 10.1182/blood-2015-10-675629. Epub 2016 Feb 24. Blood. 2016. PMID: 26912466 Free article.
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. Turro E, et al. Among authors: collins p. Sci Transl Med. 2016 Mar 2;8(328):328ra30. doi: 10.1126/scitranslmed.aad7666. Epub 2016 Mar 2. Sci Transl Med. 2016. PMID: 26936507 Free PMC article.
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. Simeoni I, et al. Among authors: collins p. Blood. 2016 Jun 9;127(23):2791-803. doi: 10.1182/blood-2015-12-688267. Epub 2016 Apr 15. Blood. 2016. PMID: 27084890 Free PMC article.
2,714 results