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The clinical impact of copy number variants in inherited bone marrow failure syndromes.
Waespe N, Dhanraj S, Wahala M, Tsangaris E, Enbar T, Zlateska B, Li H, Klaassen RJ, Fernandez CV, Cuvelier GDE, Wu JK, Pastore YD, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti MJ, Breakey VR, Jardine L, Goodyear L, Kofler L, Cada M, Sung L, Shago M, Scherer SW, Dror Y. Waespe N, et al. Among authors: tsangaris e. NPJ Genom Med. 2017 May 10;2:18. doi: 10.1038/s41525-017-0019-2. NPJ Genom Med. 2017. PMID: 28690869 Free PMC article.
Clinical and genetic analysis of unclassifiable inherited bone marrow failure syndromes.
Teo JT, Klaassen R, Fernandez CV, Yanofsky R, Wu J, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Athale U, Jardine L, Hand JP, Tsangaris E, Odame I, Beyene J, Dror Y. Teo JT, et al. Among authors: tsangaris e. Pediatrics. 2008 Jul;122(1):e139-48. doi: 10.1542/peds.2007-3415. Pediatrics. 2008. PMID: 18595958
Ataxia and pancytopenia caused by a mutation in TINF2.
Tsangaris E, Adams SL, Yoon G, Chitayat D, Lansdorp P, Dokal I, Dror Y. Tsangaris E, et al. Hum Genet. 2008 Dec;124(5):507-13. doi: 10.1007/s00439-008-0576-7. Epub 2008 Nov 1. Hum Genet. 2008. PMID: 18979121
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y. Tsangaris E, et al. J Med Genet. 2011 Sep;48(9):618-28. doi: 10.1136/jmg.2011.089821. Epub 2011 Jun 9. J Med Genet. 2011. PMID: 21659346
BRAF-KIAA1549 fusion predicts better clinical outcome in pediatric low-grade astrocytoma.
Hawkins C, Walker E, Mohamed N, Zhang C, Jacob K, Shirinian M, Alon N, Kahn D, Fried I, Scheinemann K, Tsangaris E, Dirks P, Tressler R, Bouffet E, Jabado N, Tabori U. Hawkins C, et al. Among authors: tsangaris e. Clin Cancer Res. 2011 Jul 15;17(14):4790-8. doi: 10.1158/1078-0432.CCR-11-0034. Epub 2011 May 24. Clin Cancer Res. 2011. PMID: 21610142
64 results