Publications
For the subgroup Rare hereditary blood cancers:
- GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.
Al Seraihi AF, Rio-Machin A, Tawana K, Bödör C, Wang J, Nagano A, Heward JA, Iqbal S, Best S, Lea N, McLornan D, Kozyra EJ, Wlodarski MW, Niemeyer CM, Scott H, Hahn C, Ellison A, Tummala H, Cardoso SR, Vulliamy T, Dokal I, Butler T, Smith M, Cavenagh J, Fitzgibbon J.
Leukemia. 2018 Apr 19. doi: 10.1038/s41375-018-0134-9. [Epub ahead of print] - Familial CEBPA-mutated acute myeloid leukemia.
Tawana K, Rio-Machin A, Preudhomme C, Fitzgibbon J.
Semin Hematol. 2017 Apr;54(2):87-93. doi: 10.1053/j.seminhematol.2017.04.001. Epub 2017 Apr 7. Review - Inherited DDX41 mutations: 11 genes and counting.
Tawana K, Fitzgibbon J.
Blood. 2016 Feb 25;127(8):960-1. doi: 10.1182/blood-2016-01-690909 - Disease evolution and outcomes in familial AML with germline CEBPA mutations.
Tawana K, Wang J, Renneville A, Bödör C, Hills R, Loveday C, Savic A, Van Delft FW, Treleaven J, Georgiades P, Uglow E, Asou N, Uike N, Debeljak M, Jazbec J, Ancliff P, Gale R, Thomas X, Mialou V, Döhner K, Bullinger L, Mueller B, Pabst T, Stelljes M, Schlegelberger B, Wozniak E, Iqbal S, Okosun J, Araf S, Frank AK, Lauridsen FB, Porse B, Nerlov C, Owen C, Dokal I, Gribben J, Smith M, Preudhomme C, Chelala C, Cavenagh J, Fitzgibbon J.
Blood. 2015 Sep 3;126(10):1214-23. doi: 10.1182/blood-2015-05-647172. Epub 2015 Jul 10 - Practical considerations for diagnosis and management of patients and carriers.
Niemeyer CM, Mecucci C. Semin Hematol. 2017 Apr;54(2):69-74. doi: 10.1053/j.seminhematol.2017.04.002.
Epub 2017 Apr 6. Review - RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM).
Schlegelberger B, Heller PG.
Semin Hematol. 2017 Apr;54(2):75-80. doi: 10.1053/j.seminhematol.2017.04.006. Epub 2017 Apr 13. Review - Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.
Ripperger T, Schlegelberger B.
Eur J Med Genet. 2016 Mar;59(3):133-42. doi: 10.1016/j.ejmg.2015.12.014. Epub 2015 Dec 30. Review - Game of clones: the genomic evolution of severe congenital neutropenia.
Touw IP.
Hematology Am Soc Hematol Educ Program. 2015;2015:1-7. doi: 10.1182/asheducation-2015.1.1 - Mesenchymal Inflammation Drives Genotoxic Stress in Hematopoietic Stem Cells and Predicts Disease Evolution in Human Pre-leukemia.
Zambetti NA, Ping Z, Chen S, Kenswil KJG, Mylona MA, Sanders MA, Hoogenboezem RM, Bindels EMJ, Adisty MN, Van Strien PMH, van der Leije CS, Westers TM, Cremers EMP, Milanese C, Mastroberardino PG, van Leeuwen JPTM, van der Eerden BCJ, Touw IP, Kuijpers TW, Kanaar R, van de Loosdrecht AA, Vogl T, Raaijmakers MHGP.
Cell Stem Cell. 2016 Nov 3;19(5):613-627. doi: 10.1016/j.stem.2016.08.021. Epub 2016 Sep 22 - Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Marsh JCW, Gutierrez-Rodrigues F, Cooper J, Jiang J, Gandhi S, Kajigaya S, Feng X, Ibanez MDPF, Donaires FS, Lopes da Silva JP, Li Z, Das S, Ibanez M, Smith AE, Lea N, Best S, Ireland R, Kulasekararaj AG, McLornan DP, Pagliuca A, Callebaut I, Young NS, Calado RT, Townsley DM, Mufti GJ.
Blood Adv. 2018 Jan 4;2(1):36-48. doi: 10.1182/bloodadvances.2017008110. eCollection 2018 Jan 9
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