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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. Among authors: wang j. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 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: wang 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.
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: wang 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.
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: wang 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: wang 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.
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. Among authors: wang j. Leukemia. 2019 Jun;33(6):1540. doi: 10.1038/s41375-019-0425-9. Leukemia. 2019. PMID: 30903015 Free PMC article.
Applications and analysis of targeted genomic sequencing in cancer studies.
Bewicke-Copley F, Arjun Kumar E, Palladino G, Korfi K, Wang J. Bewicke-Copley F, et al. Among authors: wang j. Comput Struct Biotechnol J. 2019 Nov 7;17:1348-1359. doi: 10.1016/j.csbj.2019.10.004. eCollection 2019. Comput Struct Biotechnol J. 2019. PMID: 31762958 Free PMC article. Review.
Genetic heterogeneity highlighted by differential FDG-PET response in diffuse large B-cell lymphoma.
Araf S, Korfi K, Bewicke-Copley F, Wang J, Cogliatti S, Kumar E, Forrer F, Barrington SF, Graham TA, Scott DW, Rimsza LM, Davies A, Johnson P, Okosun J, Fitzgibbon J, Fehr M. Araf S, et al. Among authors: wang j. Haematologica. 2020 Jun;105(6):318-321. doi: 10.3324/haematol.2019.242206. Epub 2020 Apr 9. Haematologica. 2020. PMID: 32273479 Free PMC article. No abstract available.
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: wang 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.
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