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

Adrianna Vlachos, Sarah E. Ball, Niklas Dahl, +15

British Journal of Haematology

Hematological MalignancyTransplantationBone Marrow FailureLaboratory HematologyAplastic Anemia +9

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, +18

The American Journal of Human Genetics

Developmental AnomalyDevelopmental BiologyGenetic DisorderMedicineGenetics +7

Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry

Adrianna Vlachos, Philip S. Rosenberg, Eva Atsidaftos, +2

Blood

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia

Hanna T. Gazda, Agnieszka Grabowska, Lilia B. Merida‐Long, +20

The American Journal of Human Genetics

Diamond-blackfan AnemiaGenetic DisorderMedicineGeneticsMolecular Genetics +2

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

Leana Doherty, Mee Rie Sheen, Adrianna Vlachos, +16

The American Journal of Human Genetics

Diamond-blackfan AnemiaNatural SciencesGeneticsProtein GeneticsMolecular Biology +5

The Genetic Landscape of Diamond-Blackfan Anemia

Jacob C. Ulirsch, Jeffrey M. Verboon, Shideh Kazerounian, +38

The American Journal of Human Genetics

BiologyGenetic LandscapeMedicineGeneticsGenetic Variation +3

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

Jason E. Farrar, Michelle Nater, Emi Caywood, +18

Blood

The ribosomal basis of diamond-blackfan anemia: mutation and database update

Ilenia Boria, Emanuela Garelli, Hanna T. Gazda, +26

Human Mutation

GeneticsGenetic EpidemiologyMolecular BiologyMolecular GeneticsDisease Gene Identification +14

Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: An update from the Diamond Blackfan Anemia Registry

Jeffrey M. Lipton, Eva Atsidaftos, Israel Zyskind, +1

Pediatric Blood & Cancer

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Alyssa L. Kennedy, Kasiani C. Myers, James R. Bowman, +40

Nature Communications