Associated Papers
Genomic variation in DDX41 identified through clinical sequencing.
Wells C et al.
British Journal of Haematology, 2025
Evaluation of the pathogenic potential of germline DDX41 variants in hematopoietic neoplasms using the ACMG/AMP guidelines.
Matsui H et al.
International Journal of Hematology, 2024
The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing.
Maierhofer A et al.
Blood Advances, 2023
37874914 (PubMed )
Supplement: BLOODA_ADV-2023-011389-mmc1.xlsx › Table_S3
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC et al.
Blood Advances, 2023
37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc2.xlsx › Genomics_Cohorts
DDX41-associated susceptibility to myeloid neoplasms.
Makishima H et al.
Blood, 2023
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Saygin C et al.
Blood Advances, 2023
36001442 (PubMed )
Supplement: BLOODA_ADV-2022-008172-mmc1.pdf
Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.
Makishima H et al.
Blood, 2023
Biallelic disruption of DDX41 activity is associated with distinct genomic and immunophenotypic hallmarks in acute leukemia.
Tierens A et al.
Frontiers in Oncology, 2023
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