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authFullName_s : Colin Sieff

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

Leana Doherty , Mee Rie Sheen , Adrianna Vlachos , Valérie Choesmel , Marie-Françoise O'Donohue et al.
American Journal of Human Genetics, 2010, 86 (2), pp.222-228. ⟨10.1016/j.ajhg.2009.12.015⟩
Journal articles hal-02328188v1

The Genetic Landscape of Diamond-Blackfan Anemia

Jacob Ulirsch , Jeffrey Verboon , Shideh Kazerounian , Michael Guo , Daniel Yuan et al.
American Journal of Human Genetics, 2018, 103 (6), pp.930-947. ⟨10.1016/j.ajhg.2018.10.027⟩
Journal articles hal-02328160v1

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia

Michael Landowski , Marie-Françoise O'Donohue , Christopher Buros , Roxanne Ghazvinian , Nathalie Montel-Lehry et al.
Human Genetics, 2013, 132 (11), pp.1265-1274. ⟨10.1007/s00439-013-1326-z⟩
Journal articles hal-02327880v1

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

Hanna Gazda , Milena Preti , Mee Rie Sheen , Marie-Françoise O'Donohue , Adrianna Vlachos et al.
Human Mutation, 2012, 33 (7), pp.1037-1044. ⟨10.1002/humu.22081⟩
Journal articles hal-02328166v1

Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

Hanna Gazda , Mee Rie Sheen , Adrianna Vlachos , Valérie Choesmel , Marie-Françoise O'Donohue et al.
American Journal of Human Genetics, 2008, 83 (6), pp.769-780. ⟨10.1016/j.ajhg.2008.11.004⟩
Journal articles hal-02328204v1

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

Lisa Riley , Matthew Heeney , Joëlle Rudinger-Thirion , Magali Frugier , Dean Campagna et al.
Haematologica, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Journal articles hal-02118688v1