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Page 1
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.
Tummala H, Walne AJ, Bewicke-Copley F, Ellison A, Pontikos N, Bridger MG, Rio-Machin A, Sidhu JK, Wang J, Hasle H, Fitzgibbon J, Vulliamy T, Dokal I. Tummala H, et al. Among authors: fitzgibbon j. Proc Natl Acad Sci U S A. 2020 Jul 21;117(29):17151-17155. doi: 10.1073/pnas.2002857117. Epub 2020 Jul 7. Proc Natl Acad Sci U S A. 2020. PMID: 32636268 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. Among authors: fitzgibbon j. 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.
Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.
Cardoso SR, Ryan G, Walne AJ, Ellison A, Lowe R, Tummala H, Rio-Machin A, Collopy L, Al Seraihi A, Wallis Y, Page P, Akiki S, Fitzgibbon J, Vulliamy T, Dokal I. Cardoso SR, et al. Among authors: fitzgibbon j. Leukemia. 2016 Oct;30(10):2083-2086. doi: 10.1038/leu.2016.124. Epub 2016 Jun 2. Leukemia. 2016. PMID: 27133828 Free PMC article. No abstract available.
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA, Payne E, Plagnol V, Dokal I, Vulliamy T. Tummala H, et al. Among authors: fitzgibbon j. Am J Hum Genet. 2016 Jul 7;99(1):115-24. doi: 10.1016/j.ajhg.2016.05.002. Epub 2016 Jun 23. Am J Hum Genet. 2016. PMID: 27346687 Free PMC article.
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. Among authors: fitzgibbon j. 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. Among authors: fitzgibbon j. 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.
Genomic profiling reveals spatial intra-tumor heterogeneity in follicular lymphoma.
Araf S, Wang J, Korfi K, Pangault C, Kotsiou E, Rio-Machin A, Rahim T, Heward J, Clear A, Iqbal S, Davies JK, Johnson P, Calaminici M, Montoto S, Auer R, Chelala C, Gribben JG, Graham TA, Fest T, Fitzgibbon J, Okosun J. Araf S, et al. Among authors: fitzgibbon j. Leukemia. 2018 May;32(5):1261-1265. doi: 10.1038/s41375-018-0043-y. Epub 2018 Feb 8. Leukemia. 2018. PMID: 29568095 Free PMC article. No abstract available.
Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells.
Casado P, Wilkes EH, Miraki-Moud F, Hadi MM, Rio-Machin A, Rajeeve V, Pike R, Iqbal S, Marfa S, Lea N, Best S, Gribben J, Fitzgibbon J, Cutillas PR. Casado P, et al. Among authors: fitzgibbon j. Leukemia. 2018 Aug;32(8):1818-1822. doi: 10.1038/s41375-018-0032-1. Epub 2018 Apr 7. Leukemia. 2018. PMID: 29626197 Free PMC article. No abstract available.
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. Al Seraihi AF, et al. Among authors: fitzgibbon j. Leukemia. 2018 Nov;32(11):2502-2507. doi: 10.1038/s41375-018-0134-9. Epub 2018 Apr 19. Leukemia. 2018. PMID: 29749400 Free PMC article. No abstract available.
Transmission of diffuse large B-cell lymphoma by an allogeneic stem-cell transplant.
Araf S, Wang J, Ashton-Key M, Korfi K, Di Bella D, Rio-Machin A, Odabashian M, Foria V, Du MQ, Cucco F, Barrans S, Johnson P, Laird SR, Fisher AM, Cullis JO, Graham TA, Okosun J, Fitzgibbon J, Chiecchio L. Araf S, et al. Among authors: fitzgibbon j. Haematologica. 2019 Apr;104(4):e174-e177. doi: 10.3324/haematol.2018.196907. Epub 2018 Jul 5. Haematologica. 2019. PMID: 29976740 Free PMC article. No abstract available.
280 results