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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2002 1
2003 1
2004 3
2005 2
2006 5
2007 5
2008 5
2009 13
2010 9
2011 17
2012 15
2013 18
2014 22
2015 21
2016 17
2017 33
2018 22
2019 16
2020 20
2021 21
2022 20
2023 18
2024 22

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277 results

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Page 1
Dyskeratosis congenita and telomere biology disorders.
Savage SA. Savage SA. Hematology Am Soc Hematol Educ Program. 2022 Dec 9;2022(1):637-648. doi: 10.1182/hematology.2022000394. Hematology Am Soc Hematol Educ Program. 2022. PMID: 36485133 Free PMC article. Review.
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.
Kratz CP, Achatz MI, Brugières L, Frebourg T, Garber JE, Greer MC, Hansford JR, Janeway KA, Kohlmann WK, McGee R, Mullighan CG, Onel K, Pajtler KW, Pfister SM, Savage SA, Schiffman JD, Schneider KA, Strong LC, Evans DGR, Wasserman JD, Villani A, Malkin D. Kratz CP, et al. Among authors: savage sa. Clin Cancer Res. 2017 Jun 1;23(11):e38-e45. doi: 10.1158/1078-0432.CCR-17-0408. Clin Cancer Res. 2017. PMID: 28572266 Review.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel. Fortuno C, et al. Among authors: savage sa. Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25. Hum Mutat. 2021. PMID: 33300245 Free PMC article.
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma.
Mirabello L, Zhu B, Koster R, Karlins E, Dean M, Yeager M, Gianferante M, Spector LG, Morton LM, Karyadi D, Robison LL, Armstrong GT, Bhatia S, Song L, Pankratz N, Pinheiro M, Gastier-Foster JM, Gorlick R, de Toledo SRC, Petrilli AS, Patino-Garcia A, Lecanda F, Gutierrez-Jimeno M, Serra M, Hattinger C, Picci P, Scotlandi K, Flanagan AM, Tirabosco R, Amary MF, Kurucu N, Ilhan IE, Ballinger ML, Thomas DM, Barkauskas DA, Mejia-Baltodano G, Valverde P, Hicks BD, Zhu B, Wang M, Hutchinson AA, Tucker M, Sampson J, Landi MT, Freedman ND, Gapstur S, Carter B, Hoover RN, Chanock SJ, Savage SA. Mirabello L, et al. Among authors: savage sa. JAMA Oncol. 2020 May 1;6(5):724-734. doi: 10.1001/jamaoncol.2020.0197. JAMA Oncol. 2020. PMID: 32191290 Free PMC article.
Dyskeratosis Congenita and Related Telomere Biology Disorders.
Savage SA, Niewisch MR. Savage SA, et al. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301779 Free Books & Documents. Review.
Differential diagnosis of bone marrow failure syndromes guided by machine learning.
Gutierrez-Rodrigues F, Munger E, Ma X, Groarke EM, Tang Y, Patel BA, Catto LFB, Clé DV, Niewisch MR, Alves-Paiva RM, Donaires FS, Pinto AL, Borges G, Santana BA, McReynolds LJ, Giri N, Altintas B, Fan X, Shalhoub R, Siwy CM, Diamond C, Raffo DQ, Craft K, Kajigaya S, Summers RM, Liu P, Cunningham L, Hickstein DD, Dunbar CE, Pasquini R, De Oliveira MM, Velloso EDRP, Alter BP, Savage SA, Bonfim C, Wu CO, Calado RT, Young NS. Gutierrez-Rodrigues F, et al. Among authors: savage sa. Blood. 2023 Apr 27;141(17):2100-2113. doi: 10.1182/blood.2022017518. Blood. 2023. PMID: 36542832 Free PMC article.
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
Kim J, Gianferante M, Karyadi DM, Hartley SW, Frone MN, Luo W, Robison LL, Armstrong GT, Bhatia S, Dean M, Yeager M, Zhu B, Song L, Sampson JN, Yasui Y, Leisenring WM, Brodie SA, de Andrade KC, Fortes FP, Goldstein AM, Khincha PP, Machiela MJ, McMaster ML, Nickerson ML, Oba L, Pemov A, Pinheiro M, Rotunno M, Santiago K, Wegman-Ostrosky T, Diver WR, Teras L, Freedman ND, Hicks BD, Zhu B, Wang M, Jones K, Hutchinson AA, Dagnall C, Savage SA, Tucker MA, Chanock SJ, Morton LM, Stewart DR, Mirabello L. Kim J, et al. Among authors: savage sa. JNCI Cancer Spectr. 2021 Jan 23;5(2):pkab007. doi: 10.1093/jncics/pkab007. eCollection 2021 Apr. JNCI Cancer Spectr. 2021. PMID: 34308104 Free PMC article.
Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis.
Kratz CP, Freycon C, Maxwell KN, Nichols KE, Schiffman JD, Evans DG, Achatz MI, Savage SA, Weitzel JN, Garber JE, Hainaut P, Malkin D. Kratz CP, et al. Among authors: savage sa. JAMA Oncol. 2021 Dec 1;7(12):1800-1805. doi: 10.1001/jamaoncol.2021.4398. JAMA Oncol. 2021. PMID: 34709361 Free PMC article.
Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.
de Andrade KC, Khincha PP, Hatton JN, Frone MN, Wegman-Ostrosky T, Mai PL, Best AF, Savage SA. de Andrade KC, et al. Among authors: savage sa. Lancet Oncol. 2021 Dec;22(12):1787-1798. doi: 10.1016/S1470-2045(21)00580-5. Epub 2021 Nov 12. Lancet Oncol. 2021. PMID: 34780712 Free PMC article.
Fundamental immune-oncogenicity trade-offs define driver mutation fitness.
Hoyos D, Zappasodi R, Schulze I, Sethna Z, de Andrade KC, Bajorin DF, Bandlamudi C, Callahan MK, Funt SA, Hadrup SR, Holm JS, Rosenberg JE, Shah SP, Vázquez-García I, Weigelt B, Wu M, Zamarin D, Campitelli LF, Osborne EJ, Klinger M, Robins HS, Khincha PP, Savage SA, Balachandran VP, Wolchok JD, Hellmann MD, Merghoub T, Levine AJ, Łuksza M, Greenbaum BD. Hoyos D, et al. Among authors: savage sa. Nature. 2022 Jun;606(7912):172-179. doi: 10.1038/s41586-022-04696-z. Epub 2022 May 11. Nature. 2022. PMID: 35545680 Free PMC article.
277 results