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Marie-Francoise O'Donohue
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Journal Articles

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

Marie-Françoise O’Donohue, Lydie Da Costa, Marco Lezzerini, Sule Unal, Clément Joret, Marije Bartels, Eva Brilstra, Marijn Scheijde-Vermeulen, Ludivine Wacheul, Kim De Keersmaecker, Stijn Vereecke, Veerle Labarque, Manon Saby, Sophie D. Lefevre, Jessica Platon, Nathalie Montel-Lehry, Nathalie Laugero, Eric Lacazette, Koen van Gassen, Riekelt H. Houtkooper, Pelin Ozlem Simsek-Kiper, Thierry Leblanc, Nese Yarali, Arda Cetinkaya, Nurten A. Akarsu, Pierre-Emmanuel Gleizes, Denis L. J. Lafontaine, Alyson W. MacInnes
Journal: Blood
Blood (2022) 139 (21): 3111–3126.
https://doi.org/10.1182/blood.2021011846
Published: 2022
Includes: Supplemental data
Journal Articles

Ribosomal Protein Genes S10 and S26 Are Commonly Mutated in Diamond-Blackfan Anemia.

Hanna T. Gazda, Mee Rie Sheen, Leana Doherty, Adrianna Vlachos, Valerie Choesmel, Marie-Francoise O'Donohue, Hal E. Schneider, Catherine Clinton, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, Alan H. Beggs
Journal: Blood
Blood (2009) 114 (22): 175.
https://doi.org/10.1182/blood.V114.22.175.175
Published: 2009
Journal Articles

Identification of New Rare Sequence Changes in RP Genes in Diamond-Blackfan Anemia and Association of the RPL5 and RPL11 Mutations with Craniofacial and Thumb Malformations

Hanna T. Gazda, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Francoise O’Donohue, Hal Schneider, Natasha Darras, Catherine Hasman, Colin A. Sieff, Peter E. Newburger, Sarah Ball, Edyta Niewiadomska, Michal Matysiak, Jan M. Zaucha, Bertil Glader, Charlotte Niemeyer, Joerg J. Meerpohl, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, Alan H. Beggs
Journal: Blood
Blood (2008) 112 (11): 39.
https://doi.org/10.1182/blood.V112.11.39.39
Published: 2008