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Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong CE, Lee Y, Yong A, Suthers GK, Poplawski N, Altree M, Phillips K, Jaensch L, Fine M, D'Andrea RJ, Lewis ID, Medeiros BC, Pollyea DA, King MC, Walsh T, Keel S, Shimamura A, Godley LA, Hahn CN, Churpek JE, Scott HS. Lewinsohn M, et al. Blood. 2016 Feb 25;127(8):1017-23. doi: 10.1182/blood-2015-10-676098. Epub 2015 Dec 28. Blood. 2016. PMID: 26712909 Free PMC article.
Familial myelodysplastic syndrome/acute myeloid leukemia.
Churpek JE. Churpek JE. Best Pract Res Clin Haematol. 2017 Dec;30(4):287-289. doi: 10.1016/j.beha.2017.10.002. Epub 2017 Oct 4. Best Pract Res Clin Haematol. 2017. PMID: 29156196 Free PMC article. Review.
Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).
DiNardo CD, Bannon SA, Routbort M, Franklin A, Mork M, Armanios M, Mace EM, Orange JS, Jeff-Eke M, Churpek JE, Takahashi K, Jorgensen JL, Garcia-Manero G, Kornblau S, Bertuch A, Cheung H, Bhalla K, Futreal A, Godley LA, Patel KP. DiNardo CD, et al. Clin Lymphoma Myeloma Leuk. 2016 Jul;16(7):417-428.e2. doi: 10.1016/j.clml.2016.04.001. Epub 2016 Apr 27. Clin Lymphoma Myeloma Leuk. 2016. PMID: 27210295 Free PMC article.
Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy.
Rojek K, Nickels E, Neistadt B, Marquez R, Wickrema A, Artz A, van Besien K, Larson RA, Lee MK, Segal JP, King MC, Walsh T, Shimamura A, Keel SB, Churpek JE, Godley LA. Rojek K, et al. Biol Blood Marrow Transplant. 2016 Nov;22(11):2100-2103. doi: 10.1016/j.bbmt.2016.08.002. Epub 2016 Aug 4. Biol Blood Marrow Transplant. 2016. PMID: 27497531 Free PMC article.