The Genetic Landscape of Diamond-Blackfan Anemia

Author:

Ulirsch Jacob C.,Verboon Jeffrey M.,Kazerounian Shideh,Guo Michael H.,Yuan Daniel,Ludwig Leif S.,Handsaker Robert E.,Abdulhay Nour J.,Fiorini Claudia,Genovese Giulio,Lim Elaine T.,Cheng Aaron,Cummings Beryl B.,Chao Katherine R.,Beggs Alan H.,Genetti Casie A.,Sieff Colin A.,Newburger Peter E.,Niewiadomska Edyta,Matysiak Michal,Vlachos Adrianna,Lipton Jeffrey M.,Atsidaftos Eva,Glader Bertil,Narla Anupama,Gleizes Pierre-Emmanuel,O’Donohue Marie-Françoise,Montel-Lehry Nathalie,Amor David J.,McCarroll Steven A.,O’Donnell-Luria Anne H.,Gupta Namrata,Gabriel Stacey B.,MacArthur Daniel G.,Lander Eric S.,Lek Monkol,Da Costa Lydie,Nathan David G.,Korostelev Andrei A.,Do Ron,Sankaran Vijay G.,Gazda Hanna T.

Funder

National Institutes of Health

DBA Foundation

New York Stem Cell Foundation

ANR

ERA-NET programme E-RARE3

NIH

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference86 articles.

1. Congenital hypoplastic anemia;Diamond;Adv. Pediatr.,1976

2. The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update;Boria;Hum. Mutat.,2010

3. Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference;Vlachos;Br. J. Haematol.,2008

4. A novel pathogenic mutation in RPL11 identified in a patient diagnosed with diamond Blackfan anemia as a young adult;Narla;Blood Cells Mol. Dis.,2016

5. Molecular mechanisms of pathology and treatment in Diamond Blackfan anaemia;Horos;Br. J. Haematol.,2012

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