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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.
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H, Walne AJ, Badat M, Patel M, Walne AM, Alnajar J, Chow CC, Albursan I, Frost JM, Ballard D, Killick S, Szitányi P, Kelly AM, Raghavan M, Powell C, Raymakers R, Todd T, Mantadakis E, Polychronopoulou S, Pontikos N, Liao T, Madapura P, Hossain U, Vulliamy T, Dokal I. Tummala H, et al. EMBO Mol Med. 2024 Oct;16(10):2560-2582. doi: 10.1038/s44321-024-00118-x. Epub 2024 Aug 28. EMBO Mol Med. 2024. PMID: 39198715 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. 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.