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Plos Genetics|March 9, 2018
RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processesAlexis H Bennett, Marie-Francoise O'Donohue, Stacey R Gundry, et al.
Gastroenterology|June 19, 2014
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiencyTaina T Nieminen, Marie-Françoise O'Donohue, Yunpeng Wu, et al.
Nucleic Acids Research|March 11, 2021
Human METTL18 is a histidine-specific methyltransferase that targets RPL3 and affects ribosome biogenesis and functionJędrzej M Małecki, Marie-Francoise Odonohue, Yeji Kim, et al.
EMBO Molecular Medicine|July 6, 2019
Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out modelsManame Benyelles, Harikleia Episkopou, Marie-Françoise O'Donohue, et al.
Human Genetics|July 2, 2013
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemiaMichael Landowski, Marie-Françoise O'Donohue, Christopher Buros, et al.
Plos Genetics|February 2, 2019
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulationAmy E O'Connell, Maxim V Gerashchenko, Marie-Francoise O'Donohue, et al.
Nucleic Acids Research|December 5, 2019
The human methyltransferase ZCCHC4 catalyses N6-methyladenosine modification of 28S ribosomal RNARita Pinto, Cathrine B Vågbø, Magnus E Jakobsson, et al.
American Journal of Human Genetics|February 2, 2010
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemiaLeana Doherty, Mee Rie Sheen, Adrianna Vlachos, et al.
Human Mutation|March 21, 2012
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemiaHanna T Gazda, Milena Preti, Mee Rie Sheen, et al.
Haematologica|March 31, 2018
Recurring mutations in <i>RPL15</i> are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemiaMarcin W Wlodarski, Lydie Da Costa, Marie-Françoise O'Donohue, et al.
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