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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Tummala H, Al Seraihi AFH, Alnajar J, Bewicke-Copley F, Armes H, Barnett M, Bloor A, Bödör C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne EM, Protheroe RE, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze CL, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki S, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal I. Rio-Machin A, et al. Among authors: tawana k. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 Free PMC article.
NUP98-NSD1 fusion in association with FLT3-ITD mutation identifies a prognostically relevant subgroup of pediatric acute myeloid leukemia patients suitable for monitoring by real time quantitative PCR.
Akiki S, Dyer SA, Grimwade D, Ivey A, Abou-Zeid N, Borrow J, Jeffries S, Caddick J, Newell H, Begum S, Tawana K, Mason J, Velangi M, Griffiths M. Akiki S, et al. Among authors: tawana k. Genes Chromosomes Cancer. 2013 Nov;52(11):1053-64. doi: 10.1002/gcc.22100. Epub 2013 Sep 2. Genes Chromosomes Cancer. 2013. PMID: 23999921
Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma.
Okosun J, Bödör C, Wang J, Araf S, Yang CY, Pan C, Boller S, Cittaro D, Bozek M, Iqbal S, Matthews J, Wrench D, Marzec J, Tawana K, Popov N, O'Riain C, O'Shea D, Carlotti E, Davies A, Lawrie CH, Matolcsy A, Calaminici M, Norton A, Byers RJ, Mein C, Stupka E, Lister TA, Lenz G, Montoto S, Gribben JG, Fan Y, Grosschedl R, Chelala C, Fitzgibbon J. Okosun J, et al. Among authors: tawana k. Nat Genet. 2014 Feb;46(2):176-181. doi: 10.1038/ng.2856. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362818 Free PMC article.
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. Tawana K, et al. Blood. 2015 Sep 3;126(10):1214-23. doi: 10.1182/blood-2015-05-647172. Epub 2015 Jul 10. Blood. 2015. PMID: 26162409 Free article.
Inherited DDX41 mutations: 11 genes and counting.
Tawana K, Fitzgibbon J. Tawana K, et al. Blood. 2016 Feb 25;127(8):960-1. doi: 10.1182/blood-2016-01-690909. Blood. 2016. PMID: 26917736 Free article. No abstract available.
Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.
Tawana K, Wang J, Király PA, Kállay K, Benyó G, Zombori M, Csomor J, Al Seraihi A, Rio-Machin A, Matolcsy A, Chelala C, Cavenagh J, Fitzgibbon J, Bödör C. Tawana K, et al. Eur J Hum Genet. 2017 Aug;25(8):1020-1024. doi: 10.1038/ejhg.2017.80. Epub 2017 May 17. Eur J Hum Genet. 2017. PMID: 28513614 Free PMC article.
Familial CEBPA-mutated acute myeloid leukemia.
Tawana K, Rio-Machin A, Preudhomme C, Fitzgibbon J. Tawana K, et al. Semin Hematol. 2017 Apr;54(2):87-93. doi: 10.1053/j.seminhematol.2017.04.001. Epub 2017 Apr 7. Semin Hematol. 2017. PMID: 28637622 Review.
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