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21 results

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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.
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. 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. 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. 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.
The Genomic Landscape of Actinic Keratosis.
Thomson J, Bewicke-Copley F, Anene CA, Gulati A, Nagano A, Purdie K, Inman GJ, Proby CM, Leigh IM, Harwood CA, Wang J. Thomson J, et al. J Invest Dermatol. 2021 Jul;141(7):1664-1674.e7. doi: 10.1016/j.jid.2020.12.024. Epub 2021 Jan 19. J Invest Dermatol. 2021. PMID: 33482222 Free PMC article.
Acquired somatic variants in inherited myeloid malignancies.
Armes H, Rio-Machin A, Krizsán S, Bödör C, Kaya F, Bewicke-Copley F, Alnajar J, Walne A, Péterffy B, Tummala H, Rouault-Pierre K, Dokal I, Vulliamy T, Fitzgibbon J. Armes H, et al. Among authors: bewicke copley f. Leukemia. 2022 May;36(5):1377-1381. doi: 10.1038/s41375-022-01515-2. Epub 2022 Feb 9. Leukemia. 2022. PMID: 35140362 Free PMC article. No abstract available.
CKS1 inhibition depletes leukemic stem cells and protects healthy hematopoietic stem cells in acute myeloid leukemia.
Grey W, Rio-Machin A, Casado P, Grönroos E, Ali S, Miettinen JJ, Bewicke-Copley F, Parsons A, Heckman CA, Swanton C, Cutillas PR, Gribben J, Fitzgibbon J, Bonnet D. Grey W, et al. Among authors: bewicke copley f. Sci Transl Med. 2022 Jun 22;14(650):eabn3248. doi: 10.1126/scitranslmed.abn3248. Epub 2022 Jun 22. Sci Transl Med. 2022. PMID: 35731890 Free PMC article.
Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
Armes H, Bewicke-Copley F, Rio-Machin A, Di Bella D, Philippe C, Wozniak A, Tummala H, Wang J, Ezponda T, Prosper F, Dokal I, Vulliamy T, Kilpivaara O, Wartiovaara-Kautto U, Fitzgibbon J, Rouault-Pierre K. Armes H, et al. Among authors: bewicke copley f. Br J Haematol. 2022 Dec;199(5):754-764. doi: 10.1111/bjh.18466. Epub 2022 Sep 26. Br J Haematol. 2022. PMID: 36156210 Free PMC article.
21 results