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Page 1
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. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 Free PMC article.
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.
Cardoso SR, Ellison ACM, Walne AJ, Cassiman D, Raghavan M, Kishore B, Ancliff P, Rodríguez-Vigil C, Dobbels B, Rio-Machin A, Al Seraihi AFH, Pontikos N, Tummala H, Vulliamy T, Dokal I. Cardoso SR, et al. Haematologica. 2017 Aug;102(8):e293-e296. doi: 10.3324/haematol.2017.167056. Epub 2017 May 11. Haematologica. 2017. PMID: 28495916 Free PMC 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.
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. 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. 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.
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.
Tummala H, Dokal AD, Walne A, Ellison A, Cardoso S, Amirthasigamanipillai S, Kirwan M, Browne I, Sidhu JK, Rajeeve V, Rio-Machin A, Seraihi AA, Duncombe AS, Jenner M, Smith OP, Enright H, Norton A, Aksu T, Özbek NY, Pontikos N, Cutillas P, Dokal I, Vulliamy T. Tummala H, et al. Proc Natl Acad Sci U S A. 2018 Jul 24;115(30):7777-7782. doi: 10.1073/pnas.1803275115. Epub 2018 Jul 9. Proc Natl Acad Sci U S A. 2018. PMID: 29987015 Free PMC article.
Correction: 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. Leukemia. 2019 Jun;33(6):1540. doi: 10.1038/s41375-019-0425-9. Leukemia. 2019. PMID: 30903015 Free PMC article.
AML through the prism of molecular genetics.
Charrot S, Armes H, Rio-Machin A, Fitzgibbon J. Charrot S, et al. Br J Haematol. 2020 Jan;188(1):49-62. doi: 10.1111/bjh.16356. Br J Haematol. 2020. PMID: 31863468 Free article. Review.
34 results