Associated Papers
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2014
Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.
Chae H et al.
Experimental & Molecular Medicine, 2014
Disorders of sex development and Diamond-Blackfan anemia: is there an association?
Hoefele J et al.
Pediatric Nephrology (berlin, Germany), 2010
Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.
Badhai J et al.
Biochimica Et Biophysica Acta, 2009
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
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