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Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.
Leo VC, Morgan NV, Bem D, Jones ML, Lowe GC, Lordkipanidzé M, Drake S, Simpson MA, Gissen P, Mumford A, Watson SP, Daly ME; UK GAPP Study Group. Leo VC, et al. Among authors: simpson ma. J Thromb Haemost. 2015 Apr;13(4):643-50. doi: 10.1111/jth.12836. Epub 2015 Jan 27. J Thromb Haemost. 2015. PMID: 25556537 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: simpson ma. 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.
A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis.
Walsh DM, Shah SH, Simpson MA, Morgan NV, Khaliq S, Trembath RC, Mehdi SQ, Maher ER. Walsh DM, et al. Among authors: simpson ma. Scientifica (Cairo). 2012;2012:649090. doi: 10.6064/2012/649090. Epub 2012 Dec 31. Scientifica (Cairo). 2012. PMID: 24278723 Free PMC article.
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.
Fletcher SJ, Johnson B, Lowe GC, Bem D, Drake S, Lordkipanidzé M, Guiú IS, Dawood B, Rivera J, Simpson MA, Daly ME, Motwani J, Collins PW, Watson SP, Morgan NV; UK Genotyping and Phenotyping of Platelets study group. Fletcher SJ, et al. Among authors: simpson ma. J Clin Invest. 2015 Sep;125(9):3600-5. doi: 10.1172/JCI80347. Epub 2015 Aug 17. J Clin Invest. 2015. PMID: 26280575 Free PMC article. Clinical Trial.
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: simpson ma. Haematologica. 2016 Oct;101(10):1170-1179. doi: 10.3324/haematol.2016.146316. Epub 2016 Jun 16. Haematologica. 2016. PMID: 27479822 Free PMC article.
Mutation in GNE is associated with severe congenital thrombocytopenia.
Futterer J, Dalby A, Lowe GC, Johnson B, Simpson MA, Motwani J, Williams M, Watson SP, Morgan NV; UK GAPP Study Group. Futterer J, et al. Among authors: simpson ma. Blood. 2018 Oct 25;132(17):1855-1858. doi: 10.1182/blood-2018-04-847798. Epub 2018 Jun 25. Blood. 2018. PMID: 29941673 Free PMC article. No abstract available.
398 results