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Genetic variation at chromosome 8q24 in osteosarcoma cases and controls.
Mirabello L, Berndt SI, Seratti GF, Burdett L, Yeager M, Chowdhury S, Teshome K, Uzoka A, Douglass C, Hayes RB, Hoover RN, Savage SA; National Osteosarcoma Etiology Study Group. Mirabello L, et al. Among authors: savage sa. Carcinogenesis. 2010 Aug;31(8):1400-4. doi: 10.1093/carcin/bgq117. Epub 2010 Jun 7. Carcinogenesis. 2010. PMID: 20530236 Free PMC article.
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA. Kocak H, et al. Among authors: savage sa. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18. Genes Dev. 2014. PMID: 25233904 Free PMC article.
Germline TP53 variants and susceptibility to osteosarcoma.
Mirabello L, Yeager M, Mai PL, Gastier-Foster JM, Gorlick R, Khanna C, Patiño-Garcia A, Sierrasesúmaga L, Lecanda F, Andrulis IL, Wunder JS, Gokgoz N, Barkauskas DA, Zhang X, Vogt A, Jones K, Boland JF, Chanock SJ, Savage SA. Mirabello L, et al. Among authors: savage sa. J Natl Cancer Inst. 2015 Apr 20;107(7):djv101. doi: 10.1093/jnci/djv101. Print 2015 Jul. J Natl Cancer Inst. 2015. PMID: 25896519 Free PMC article.
Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.
Pathak A, Pemov A, McMaster ML, Dewan R, Ravichandran S, Pak E, Dutra A, Lee HJ, Vogt A, Zhang X, Yeager M, Anderson S, Kirby M; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Caporaso N, Greene MH, Goldin LR, Stewart DR. Pathak A, et al. Hum Genet. 2015 Jul;134(7):775-87. doi: 10.1007/s00439-015-1550-9. Epub 2015 May 5. Hum Genet. 2015. PMID: 25939664 Free PMC article. Clinical Trial.
Effect of Recipient Age and Stem Cell Source on the Association between Donor Telomere Length and Survival after Allogeneic Unrelated Hematopoietic Cell Transplantation for Severe Aplastic Anemia.
Gadalla SM, Wang T, Dagnall C, Haagenson M, Spellman SR, Hicks B, Jones K, Katki HA, Lee SJ, Savage SA. Gadalla SM, et al. Among authors: savage sa. Biol Blood Marrow Transplant. 2016 Dec;22(12):2276-2282. doi: 10.1016/j.bbmt.2016.09.012. Epub 2016 Sep 15. Biol Blood Marrow Transplant. 2016. PMID: 27641680 Free PMC article.
Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.
Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA. Mirabello L, et al. Among authors: savage sa. J Med Genet. 2017 Jun;54(6):417-425. doi: 10.1136/jmedgenet-2016-104346. Epub 2017 Mar 9. J Med Genet. 2017. PMID: 28280134 Clinical Trial.
Relative Telomere Length before Hematopoietic Cell Transplantation and Outcome after Unrelated Donor Hematopoietic Cell Transplantation for Acute Leukemia.
Wang Y, Wang T, Dagnall C, Haagenson M, Spellman SR, Hicks B, Jones K, Lee SJ, Savage SA, Gadalla SM. Wang Y, et al. Among authors: savage sa. Biol Blood Marrow Transplant. 2017 Jul;23(7):1054-1058. doi: 10.1016/j.bbmt.2017.03.032. Epub 2017 Apr 4. Biol Blood Marrow Transplant. 2017. PMID: 28389255 Free PMC article.
371 results