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Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes.
Rafati M, McReynolds LJ, Wang Y, Hicks B, Jones K, Spellman SR, He M, Bolon YT, Arrieta-Bolaños E, Saultz JN, Lee SJ, Savage SA, Gadalla SM. Rafati M, et al. Among authors: savage sa. Transplant Cell Ther. 2024 May 27:S2666-6367(24)00427-5. doi: 10.1016/j.jtct.2024.05.017. Online ahead of print. Transplant Cell Ther. 2024. PMID: 38810947
Clinical manifestations of telomere biology disorders in adults.
Niewisch MR, Beier F, Savage SA. Niewisch MR, et al. Among authors: savage sa. Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):563-572. doi: 10.1182/hematology.2023000490. Hematology Am Soc Hematol Educ Program. 2023. PMID: 38066848 Review.
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
de Andrade KC, Strande NT, Kim J, Haley JS, Hatton JN, Frone MN, Khincha PP, Thone GM, Mirshahi UL, Schneider C, Desai H, Dove JT, Smelser DT; Penn Medicine BioBank; Regeneron Genetics Center; Levine AJ, Maxwell KN, Stewart DR, Carey DJ, Savage SA. de Andrade KC, et al. Among authors: savage sa. HGG Adv. 2024 Jan 11;5(1):100242. doi: 10.1016/j.xhgg.2023.100242. Epub 2023 Sep 29. HGG Adv. 2024. PMID: 37777824 Free PMC article.
Genetically inferred birthweight, height, and puberty timing and risk of osteosarcoma.
Gianferante DM, Moore A, Spector LG, Wheeler W, Yang T, Hubbard A, Gorlick R, Patiño-Garcia A, Lecanda F, Flanagan AM, Amary F, Andrulis IL, Wunder JS, Thomas DM, Ballinger ML, Serra M, Hattinger C, Demerath E, Johnson W, Birmann BM, De Vivo I, Giles G, Teras LR, Arslan A, Vermeulen R, Sample J, Freedman ND, Huang WY, Chanock SJ, Savage SA, Berndt SI, Mirabello L. Gianferante DM, et al. Among authors: savage sa. Cancer Epidemiol. 2023 Aug 16:102432. doi: 10.1016/j.canep.2023.102432. Online ahead of print. Cancer Epidemiol. 2023. PMID: 37596165 Free article.
Control of protein synthesis through mRNA pseudouridylation by dyskerin.
Pederiva C, Trevisan DM, Peirasmaki D, Chen S, Savage SA, Larsson O, Ule J, Baranello L, Agostini F, Farnebo M. Pederiva C, et al. Among authors: savage sa. Sci Adv. 2023 Jul 28;9(30):eadg1805. doi: 10.1126/sciadv.adg1805. Epub 2023 Jul 28. Sci Adv. 2023. PMID: 37506213 Free PMC article.
346 results