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Page 1
Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Kozyra EJ, Göhring G, Hickstein DD, Calvo KR, DiNardo CD, Dworzak M, de Haas V, Starý J, Hasle H, Shimamura A, Fleming MD, Inaba H, Lewis S, Hsu AP, Holland SM, Arnold DE, Mecucci C, Keel SB, Bertuch AA, Tawana K, Barzilai S, Hirabayashi S, Onozawa M, Lei S, Alaiz H, Andrikovics H, Betts D, Beverloo BH, Buechner J, Čermák M, Cervera J, Haus O, Jahnukainen K, Manola KN, Nebral K, Pasquali F, Tchinda J, Turkiewicz D, Van Roy N, Zemanova Z, Pastor VB, Strahm B, Noellke P, Niemeyer CM, Schlegelberger B, Yoshimi A, Wlodarski MW. Kozyra EJ, et al. Among authors: keel sb. Blood. 2021 Dec 9;138(23):2441-2445. doi: 10.1182/blood.2021012781. Blood. 2021. PMID: 34469508 Free PMC article. No abstract available.
Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E, Liu S, Galvin A, Steltz S, Malsch MM, Loveless SK, Mount L, Larson JH, Queenan K, Bertuch AA, Fleming MD, Gansner JM, Geddis AE, Hanna R, Keel SB, Lau BW, Lipton JM, Lorsbach R, Nakano TA, Vlachos A, Wang WC, Davies SM, Weller E, Myers KC, Shimamura A. Furutani E, et al. Among authors: keel sb. Blood Adv. 2022 Jan 11;6(1):297-306. doi: 10.1182/bloodadvances.2021005539. Blood Adv. 2022. PMID: 34758064 Free PMC article.
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Luo X, Feurstein S, Mohan S, Porter CC, Jackson SA, Keel S, Chicka M, Brown AL, Kesserwan C, Agarwal A, Luo M, Li Z, Ross JE, Baliakas P, Pineda-Alvarez D, DiNardo CD, Bertuch AA, Mehta N, Vulliamy T, Wang Y, Nichols KE, Malcovati L, Walsh MF, Rawlings LH, McWeeney SK, Soulier J, Raimbault A, Routbort MJ, Zhang L, Ryan G, Speck NA, Plon SE, Wu D, Godley LA. Luo X, et al. Blood Adv. 2019 Oct 22;3(20):2962-2979. doi: 10.1182/bloodadvances.2019000644. Blood Adv. 2019. PMID: 31648317 Free PMC article.
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong CE, Lee Y, Yong A, Suthers GK, Poplawski N, Altree M, Phillips K, Jaensch L, Fine M, D'Andrea RJ, Lewis ID, Medeiros BC, Pollyea DA, King MC, Walsh T, Keel S, Shimamura A, Godley LA, Hahn CN, Churpek JE, Scott HS. Lewinsohn M, et al. Blood. 2016 Feb 25;127(8):1017-23. doi: 10.1182/blood-2015-10-676098. Epub 2015 Dec 28. Blood. 2016. PMID: 26712909 Free PMC article.
A novel disease-causing synonymous exonic mutation in GATA2 affecting RNA splicing.
Wehr C, Grotius K, Casadei S, Bleckmann D, Bode SFN, Frye BC, Seidl M, Gulsuner S, King MC, Percival MB, Pritchard CC, Walsh T, Wu D, Keel S, Salzer U. Wehr C, et al. Blood. 2018 Sep 13;132(11):1211-1215. doi: 10.1182/blood-2018-03-837336. Epub 2018 Jul 20. Blood. 2018. PMID: 30030275 Free PMC article. No abstract available.
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
Zhang MY, Keel SB, Walsh T, Lee MK, Gulsuner S, Watts AC, Pritchard CC, Salipante SJ, Jeng MR, Hofmann I, Williams DA, Fleming MD, Abkowitz JL, King MC, Shimamura A. Zhang MY, et al. Among authors: keel sb. Haematologica. 2015 Jan;100(1):42-8. doi: 10.3324/haematol.2014.113456. Epub 2014 Sep 19. Haematologica. 2015. PMID: 25239263 Free PMC article.
Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy.
Rojek K, Nickels E, Neistadt B, Marquez R, Wickrema A, Artz A, van Besien K, Larson RA, Lee MK, Segal JP, King MC, Walsh T, Shimamura A, Keel SB, Churpek JE, Godley LA. Rojek K, et al. Among authors: keel sb. Biol Blood Marrow Transplant. 2016 Nov;22(11):2100-2103. doi: 10.1016/j.bbmt.2016.08.002. Epub 2016 Aug 4. Biol Blood Marrow Transplant. 2016. PMID: 27497531 Free PMC article.
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Heeney MM, Berhe S, Campagna DR, Oved JH, Kurre P, Shaw PJ, Teo J, Shanap MA, Hassab HM, Glader BE, Shah S, Yoshimi A, Ameri A, Antin JH, Boudreaux J, Briones M, Dickerson KE, Fernandez CV, Farah R, Hasle H, Keel SB, Olson TS, Powers JM, Rose MJ, Shimamura A, Bottomley SS, Fleming MD. Heeney MM, et al. Among authors: keel sb. Hum Mutat. 2021 Nov;42(11):1367-1383. doi: 10.1002/humu.24267. Epub 2021 Aug 5. Hum Mutat. 2021. PMID: 34298585 Free PMC article. Review.
80 results