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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
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.
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.
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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.
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.
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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. Among authors: al seraihi afh.
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.
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