Associated Papers
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.
Quarello P et al.
American Journal of Hematology, 2026
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2
Pervasive mislocalization of pathogenic coding variants underlying human disorders.
Lacoste J et al.
Biorxiv : the Preprint Server for Biology, 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
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan Anemia.
Boria I et al.
Human Mutation, 2008
RPS19 mutations in patients with Diamond-Blackfan anemia.
Campagnoli MF et al.
Human Mutation, 2008
Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells.
Kuramitsu M et al.
British Journal of Haematology, 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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