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Page 1
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: cada m. NPJ Genom Med. 2017 May 10;2:18. doi: 10.1038/s41525-017-0019-2. NPJ Genom Med. 2017. PMID: 28690869 Free PMC article.
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. Haematologica. 2015 May;100(5):633-42. doi: 10.3324/haematol.2014.117457. Epub 2015 Feb 14. Haematologica. 2015. PMID: 25682607 Free PMC article.
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: cada m. 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
Response to comments from Drs. Alter and Rosenberg.
Dror Y, Cada M. Dror Y, et al. Among authors: cada m. Haematologica. 2015 Sep;100(9):e381-2. doi: 10.3324/haematol.2015.130898. Haematologica. 2015. PMID: 26341530 Free PMC article. No abstract available.
Response to treatment with azacitidine in children with advanced myelodysplastic syndrome prior to hematopoietic stem cell transplantation.
Waespe N, Van Den Akker M, Klaassen RJ, Lieberman L, Irwin MS, Ali SS, Abdelhaleem M, Zlateska B, Liebman M, Cada M, Schechter T, Dror Y. Waespe N, et al. Among authors: cada m. Haematologica. 2016 Dec;101(12):1508-1515. doi: 10.3324/haematol.2016.145821. Epub 2016 Aug 18. Haematologica. 2016. PMID: 27540140 Free PMC article.
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y. Dhanraj S, et al. Among authors: cada m. Blood. 2017 Mar 16;129(11):1557-1562. doi: 10.1182/blood-2016-08-735431. Epub 2017 Jan 6. Blood. 2017. PMID: 28062395 Free article. Clinical Trial. No abstract available.
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y. Arbiv OA, et al. Among authors: cada m. Clin Genet. 2018 Feb;93(2):320-328. doi: 10.1111/cge.13158. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 29044489
ERCC6L2-associated inherited bone marrow failure syndrome.
Shabanova I, Cohen E, Cada M, Vincent A, Cohn RD, Dror Y. Shabanova I, et al. Among authors: cada m. Mol Genet Genomic Med. 2018 May;6(3):463-468. doi: 10.1002/mgg3.388. Epub 2018 Apr 6. Mol Genet Genomic Med. 2018. PMID: 29633571 Free PMC article. Review.
PKD1L1-related situs inversus associated with sideroblastic anemia.
Rodriguez S, Chaturvedi R, Blanchette V, Dell S, Axford M, Cada M, Dror Y. Rodriguez S, et al. Among authors: cada m. Clin Genet. 2019 May;95(5):629-630. doi: 10.1111/cge.13512. Epub 2019 Feb 21. Clin Genet. 2019. PMID: 30791085 No abstract available.
59 results