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

Hematology of Infancy and Childhood.

Annals of Internal Medicine · 1975 · 893 citations

Medicine, Hematology, Pediatrics +16

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Natalia Draptchinskaia, Peter Gustavsson, Björn Andersson et al. · Nature Genetics · 1999 · 788 citations

Life Sciences, Genetics, Molecular Genetics +5

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

Adrianna Vlachos, Sarah E. Ball, Niklas Dahl et al. · British Journal of Haematology · 2008 · 473 citations · Full text

Life Sciences, Genetics, Hematology +17

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

Hanna T. Gazda, Mee Rie Sheen, Adrianna Vlachos et al. · The American Journal of Human Genetics · 2008 · 417 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

Kelly A. McGowan, Jun Z. Li, Christopher Y. Park et al. · Nature Genetics · 2008 · 365 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11