References
- Berger G, van den Berg E, Sikkema-Raddatz B, et al. Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation. Leukemia. 2017;31(2):520–522.
- 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(12):4639–4645.
- 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(5):405–424.
- Ripperger T, Schlegelberger B. Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome. Eur J Med Genet. 2016;59(3):133–142.
- Wimmer K, Kratz CP, Vasen HF, et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). J Med Genet. 2014;51(6):355–365.
- Gallon R, Phelps R, Betts L, et al. Detection of consitutional mismatch repair deficiency in children and adolescents with acute lymphoblastic leukemia. Leuk Lymphoma. 2022.
- Wimmer K, Wernstedt A. PMS2 gene mutational analysis: direct cDNA sequencing to circumvent pseudogene interference. Methods Mol Biol. 2014;1167:289–302.