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Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
Ghemlas I, Li H, Zlateska B, Klaassen R, Fernandez CV, Yanofsky RA, Wu J, Pastore Y, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti M, Breakey VR, Jardine L, Goodyear L, Sung L, Dhanraj S, Reble E, Wagner A, Beyene J, Ray P, Meyn S, Cada M, Dror Y. Ghemlas I, et al. Among authors: abish s. J Med Genet. 2015 Sep;52(9):575-84. doi: 10.1136/jmedgenet-2015-103270. Epub 2015 Jul 1. J Med Genet. 2015. PMID: 26136524
Disease progression in recently diagnosed patients with inherited marrow failure syndromes: a Canadian Inherited Marrow Failure Registry (CIMFR) report.
Steele JM, Sung L, Klaassen R, Fernandez CV, Yanofsky R, Wu J, Odame I, Silva M, Champagne J, Ali K, Brossard J, Samson Y, Abish S, Le D, Jardine L, Hand JP, Lipton JH, Charpentier K, Stephens D, Freedman M, Dror Y; Canadian Inherited Marrow Failure Registry. Steele JM, et al. Among authors: abish s. Pediatr Blood Cancer. 2006 Dec;47(7):918-25. doi: 10.1002/pbc.20876. Pediatr Blood Cancer. 2006. PMID: 16676307
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: abish s. Pediatrics. 2008 Jul;122(1):e139-48. doi: 10.1542/peds.2007-3415. Pediatrics. 2008. PMID: 18595958
An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.
Pearson T, Curtis F, Al-Eyadhy A, Al-Tamemi S, Mazer B, Dror Y, Abish S, Bale S, Compton J, Ray R, Scott P, Der Kaloustian VM. Pearson T, et al. Among authors: abish s. Am J Med Genet A. 2008 Aug 15;146A(16):2159-61. doi: 10.1002/ajmg.a.32412. Am J Med Genet A. 2008. PMID: 18627054 No abstract available.
Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.
Hashmi SK, Allen C, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Beyene J, Dror Y. Hashmi SK, et al. Among authors: abish s. Clin Genet. 2011 May;79(5):448-58. doi: 10.1111/j.1399-0004.2010.01468.x. Clin Genet. 2011. PMID: 20569259
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. Among authors: abish s. 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
The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes.
Cada M, Segbefia CI, Klaassen R, Fernandez CV, Yanofsky RA, Wu J, Pastore Y, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Sinha R, Belletrutti M, Breakey V, Jardine L, Goodyear L, Sung L, Shago M, Beyene J, Sharma P, Zlateska B, Dror Y. Cada M, et al. Among authors: abish s. Haematologica. 2015 May;100(5):633-42. doi: 10.3324/haematol.2014.117457. Epub 2015 Feb 14. Haematologica. 2015. PMID: 25682607 Free PMC article.
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: abish s. NPJ Genom Med. 2017 May 10;2:18. doi: 10.1038/s41525-017-0019-2. NPJ Genom Med. 2017. PMID: 28690869 Free PMC article.
47 results