Associated Papers
Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
Da Costa L et al.
Blood Cells, Molecules & Diseases, 2024
The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.
Pelagiadis I et al.
Children (basel, Switzerland), 2023
TP53 germline pathogenic variants in modern humans were likely originated during recent human history.
Kou SH et al.
Nar Cancer, 2023
37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_2.xlsx › PVs
The germline p53 activation syndrome: A new patient further refines the clinical phenotype.
Kumar RD et al.
American Journal of Medical Genetics. Part A, 2022
De novo TP53 germline activating mutations in two patients with the phenotype mimicking Diamond-Blackfan anemia.
Fedorova D et al.
Pediatric Blood & Cancer, 2022
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Quinn EA et al.
Cold Spring Harbor Molecular Case Studies, 2019
30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.
Toki T et al.
American Journal of Human Genetics, 2018
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