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A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Johnson B, Doak R, Allsup D, Astwood E, Evans G, Grimley C, James B, Myers B, Stokley S, Thachil J, Wilde J, Williams M, Makris M, Lowe GC, Wallis Y, Daly ME, Morgan NV; UK GAPP Study Group. Johnson B, et al. Among authors: wilde j. Res Pract Thromb Haemost. 2018 Oct 8;2(4):640-652. doi: 10.1002/rth2.12151. eCollection 2018 Oct. Res Pract Thromb Haemost. 2018. PMID: 30349881 Free PMC article.
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: wilde j. 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.
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.
Stockley J, Morgan NV, Bem D, Lowe GC, Lordkipanidzé M, Dawood B, Simpson MA, Macfarlane K, Horner K, Leo VC, Talks K, Motwani J, Wilde JT, Collins PW, Makris M, Watson SP, Daly ME; UK Genotyping and Phenotyping of Platelets Study Group. Stockley J, et al. Among authors: wilde jt. Blood. 2013 Dec 12;122(25):4090-3. doi: 10.1182/blood-2013-06-506873. Epub 2013 Oct 7. Blood. 2013. PMID: 24100448 Free PMC article. Clinical Trial.
Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.
Lowe GC, Sánchez Guiu I, Chapman O, Rivera J, Lordkipanidzé M, Dovlatova N, Wilde J, Watson SP, Morgan NV; UK GAPP collaborative. Lowe GC, et al. Among authors: wilde j. Thromb Haemost. 2013 Apr;109(4):766-8. doi: 10.1160/TH12-11-0876. Epub 2013 Jan 31. Thromb Haemost. 2013. PMID: 23364359 Free PMC article.
620 results