Michał Matysiak

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

Leana Doherty, Mee Rie Sheen, Adrianna Vlachos et al. · The American Journal of Human Genetics · 2010 · 270 citations · Full text

Medicine, Genetics, Molecular Genetics +4

The Genetic Landscape of Diamond-Blackfan Anemia

Jacob C. Ulirsch, Jeffrey M. Verboon, Shideh Kazerounian et al. · The American Journal of Human Genetics · 2018 · 270 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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

Hanna T. Gazda, Milena Preti, Mee Rie Sheen et al. · Human Mutation · 2012 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Michael Landowski, Marie-Françoise O’Donohue, Christopher Buros et al. · Human Genetics · 2013 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9