Associated Papers
Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia.
Hristodor AM et al.
Cell Death Discovery, 2025
40544182 (PubMed )
Supplement: 41420_2025_2571_MOESM1_ESM.pdf
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
35419889 (PubMed )
Supplement: HUMU-43-950-s001.xlsx › S3
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.
Gálvez E et al.
Hemasphere, 2021
33718801 (PubMed )
Supplement: hs9-5-e539-s001.docx
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M et al.
Journal of Medical Genetics, 2020
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.
Guidugli L et al.
Leukemia, 2017
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