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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: walne a. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 Free PMC article.
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. Among authors: walne aj. 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.
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Tummala H, Walne AJ, Williams M, Bockett N, Collopy L, Cardoso S, Ellison A, Wynn R, Leblanc T, Fitzgibbon J, Kelsell DP, van Heel DA, Payne E, Plagnol V, Dokal I, Vulliamy T. Tummala H, et al. Among authors: walne aj. Am J Hum Genet. 2016 Jul 7;99(1):115-24. doi: 10.1016/j.ajhg.2016.05.002. Epub 2016 Jun 23. Am J Hum Genet. 2016. PMID: 27346687 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. Among authors: walne aj. 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.
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: walne aj. 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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