The Genetic Landscape of Diamond-Blackfan Anemia

The Genetic Landscape of Diamond-Blackfan Anemia

Diamond-Blackfan anemia (DBA) is a rare bone marrow failure disorder that affects 7 out of 1,000,000 live births and has been associated with mutations in components of the ribosome. In order to characterize the genetic landscape of this heterogeneous disorder, we recruited a cohort of 472 individua...

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Main Authors: Ulirsch, Jacob C. (Author), Verboon, Jeffrey M. (Author), Kazerounian, Shideh (Author), Guo, Michael H. (Author), Yuan, Daniel (Author), Ludwig, Leif S. (Author), Handsaker, Robert E. (Author), Abdulhay, Nour J. (Author), Fiorini, Claudia (Author), Genovese, Giulio (Author), Lim, Elaine T. (Author), Cheng, Aaron (Author), Cummings, Beryl B. (Author), Chao, Katherine R. (Author), Beggs, Alan H. (Author), Genetti, Casie A. (Author), Sieff, Colin A. (Author), Newburger, Peter E. (Author), Niewiadomska, Edyta (Author), Matysiak, Michal (Author), Vlachos, Adrianna (Author), Lipton, Jeffrey M. (Author), Atsidaftos, Eva (Author), Glader, Bertil (Author), Narla, Anupama (Author), Gleizes, Pierre-Emmanuel (Author), O'Donohue, Marie-Françoise (Author), Montel-Lehry, Nathalie (Author), Amor, David J. (Author), McCarroll, Steven A (Author), O'Donnell-Luria, Anne H. (Author), Gupta, Namrata (Author), Gabriel, Stacey (Author), MacArthur, Daniel G. (Author), Lander, Eric Steven (Author), Lek, Monkol (Author), Da Costa, Lydie (Author), Nathan, David G. (Author), Korostelev, Andrei A. (Author), Do, Ron (Author), Sankaran, Vijay G. (Author), Gazda, Hanna T. (Author), Diamond-Blackfan Anemia Cohort (Author)
Other Authors: Broad Institute of MIT and Harvard (Contributor), Massachusetts Institute of Technology. Department of Biology (Contributor)
Format: Article
Language:English
Published: Elsevier BV, 2020-08-14T20:27:22Z.
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