References
- Miller R, Lingineni R, Bryant SC, et al. Validation of two flow cytometry methods to measure platelet surface glyocoprotein protins. J Thromb Haemostasis. 2014;12:77.
- Uhl CB, Barness RL, Olson MC, et al. Platelet storage pool deficiency: establishment of reference ranges for platelet dense granule count by transmission electron microscopy. Blood. 2013;122:3549.
- Kohler S, Doelken SC, Mungall CJ, et al. The human phenotype ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 2014;42:D966–D974.
- Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17:405–424.
- Ito Y. Oncogenic potential of the RUNX gene family: ‘overview’. Oncogene. 2004;23:4198–4208.
- Michaud J, Wu F, Osato M, et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood. 2002;99:1364–1372.
- Song WJ, Sullivan MG, Legare RD, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23:166–175.
- Ito Y, Bae SC, Chuang LS. The RUNX family: developmental regulators in cancer. Nat Rev Cancer. 2015;15:81–95.
- Owen CJ, Toze CL, Koochin A, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood. 2008;112:4639–4645.
- Perry C, Eldor A, Soreq H. Runx1/AML1 in leukemia: disrupted association with diverse protein partners. Leuk Res. 2002;26:221–228.
- Harada H, Harada Y, Niimi H, et al. High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. Blood. 2004;103:2316–2324.
- Langabeer SE, Owen CJ, McCarron SL, et al. A novel RUNX1 mutation in a kindred with familial platelet disorder with propensity to acute myeloid leukaemia: male predominance of affected individuals. Eur J Haematol. 2010;85:552–553.
- Preudhomme C, Renneville A, Bourdon V, et al. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood. 2009;113:5583–5587.
- Matheny CJ, Speck ME, Cushing PR, et al. Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. EMBO J. 2007;26:1163–1175.
- Stockley J, Morgan NV, Bem D, et al. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. Blood. 2013;122:4090–4093.
- Ho CY, Otterud B, Legare RD, et al. Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1–22.2. Blood. 1996;87:5218–5224.
- Gerrard JM, Israels ED, Bishop AJ, et al. Inherited platelet-storage pool deficiency associated with a high incidence of acute myeloid leukaemia. Br J Haematol. 1991;79:246–255.
- Zhang MY, Churpek JE, Keel SB, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015;47:180–185.
- Botero JP, Chen D, He R, et al. Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: a detailed phenotypic study of a family. Platelets. 2016;27:712–715.
- Sladky JL, Klima J, Grooms L, et al. The PFA-100® does not predict delta-granule platelet storage pool deficiencies. Haemophilia. 2012;18:626–629.
- Hayward CP, Pai M, Liu Y, et al. Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments. J Thromb Haemost. 2009;7:676–684.
- Beri-Dexheimer M, Latger-Cannard V, Philippe C, et al. Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. Eur J Hum Genet. 2008;16:1014–1018.
- Bluteau D, Glembotsky AC, Raimbault A, et al. Dysmegakaryopoiesis of FPD/AML pedigrees with constitutional RUNX1 mutations is linked to myosin II deregulated expression. Blood. 2012;120:2708–2718.
- Xiong HY, Alipanahi B, Lee LJ, et al. RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015;347:1254806.
- Lowe GC, Lordkipanidzé M, Watson SP, on behalf of the UK GAPP study group. Utility of the ISTH bleeding assessment tool in predicting platelet defects in participants with suspected inherited platelet function disorders. J Thromb Haemost. 2013;11:1663–1668.