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Parathyroid tumor development involves deregulation of homeobox genes.
Shen HC, Rosen JE, Yang LM, Savage SA, Burns AL, Mateo CM, Agarwal SK, Chandrasekharappa SC, Spiegel AM, Collins FS, Marx SJ, Libutti SK. Shen HC, et al. Among authors: savage sa. Endocr Relat Cancer. 2008 Mar;15(1):267-75. doi: 10.1677/ERC-07-0191. Endocr Relat Cancer. 2008. PMID: 18310293 Free PMC article.
Novel FANCI mutations in Fanconi anemia with VACTERL association.
Savage SA, Ballew BJ, Giri N; NCI DCEG Cancer Genomics Research Laboratory; Chandrasekharappa SC, Ameziane N, de Winter J, Alter BP; NCI DCEG Cancer Sequencing Working Group. Savage SA, et al. Am J Med Genet A. 2016 Feb;170A(2):386-391. doi: 10.1002/ajmg.a.37461. Epub 2015 Nov 21. Am J Med Genet A. 2016. PMID: 26590883 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.
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.
Brodie SA, Khincha PP, Giri N, Bouk AJ, Steinberg M, Dai J, Jessop L, Donovan FX, Chandrasekharappa SC, de Andrade KC, Maric I, Ellis SR, Mirabello L, Alter BP, Savage SA. Brodie SA, et al. Among authors: savage sa. Cold Spring Harb Mol Case Stud. 2021 Aug 2;7(4):a006015. doi: 10.1101/mcs.a006015. Print 2021 Aug. Cold Spring Harb Mol Case Stud. 2021. PMID: 34162668 Free PMC article.
Germ-line genetic variation of TP53 in osteosarcoma.
Savage SA, Burdett L, Troisi R, Douglass C, Hoover RN, Chanock SJ; National Osteosarcoma Etiology study group. Savage SA, et al. Pediatr Blood Cancer. 2007 Jul;49(1):28-33. doi: 10.1002/pbc.21077. Pediatr Blood Cancer. 2007. PMID: 17096406
371 results