Associated Papers
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.
Quarello P et al.
American Journal of Hematology, 2026
41247002 (PubMed )
Supplement: AJH-101-228-s001.docx
The transcriptomic landscape of normal and ineffective erythropoiesis at single-cell resolution.
Doty RT et al.
Blood Advances, 2023
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Aspesi A et al.
Human Mutation, 2018
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
Thouvenot P et al.
Plos Genetics, 2016
27272900 (PubMed )
Supplement: pgen.1006096.s001.pdf
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.
Angelini M et al.
Human Molecular Genetics, 2007
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