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• Application of High-Throughput Sequencing in the Diagnosis of Inherited Thrombocytopenia.

  Wang Q, Cao L, Sheng G, Shen H, Ling J, Xie J, Ma Z, Yin J, Wang Z, Yu Z, Chen S, Zhao Y, Ruan C, Xia L, Jiang M. Wang Q, et al. Clin Appl Thromb Hemost. 2018 Dec;24(9_suppl):94S-103S. doi: 10.1177/1076029618790696. Epub 2018 Aug 13. Clin Appl Thromb Hemost. 2018. PMID: 30103613 Free PMC article. Clinical Trial.
• 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. 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.
• Evaluation of the immature platelet fraction contribute to the differential diagnosis of hereditary, immune and other acquired thrombocytopenias.

  Ferreira FLB, Colella MP, Medina SS, Costa-Lima C, Fiusa MML, Costa LNG, Orsi FA, Annichino-Bizzacchi JM, Fertrin KY, Gilberti MFP, Ozelo MC, De Paula EV. Ferreira FLB, et al. Sci Rep. 2017 Jun 13;7(1):3355. doi: 10.1038/s41598-017-03668-y. Sci Rep. 2017. PMID: 28611471 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. 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.
• Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation.

  Fletcher SJ, Pisareva VP, Khan AO, Tcherepanov A, Morgan NV, Pisarev AV. Fletcher SJ, et al. RNA. 2018 Jul;24(7):939-949. doi: 10.1261/rna.066415.118. Epub 2018 Apr 20. RNA. 2018. PMID: 29678925 Free PMC article.