Associated Papers
Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.
Tiong IS et al.
Leukemia, 2026
Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.
Villy MC et al.
European Journal of Human Genetics : Ejhg, 2025
Overall cancer risk in people with deleterious germline DDX41 variants.
Korotev SC et al.
Haematologica, 2025
Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.
Kusne Y et al.
British Journal of Haematology, 2025
Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding.
Kida J et al.
Current Opinion in Hematology, 2025
Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z et al.
Blood, 2024
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
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Mitchell OD et al.
Jama Network Open, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Saygin C et al.
Blood Advances, 2023
Current Understanding of DDX41 Mutations in Myeloid Neoplasms.
Kim K et al.
Cancers, 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
Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms.
Badar T et al.
Current Hematologic Malignancy Reports, 2022
A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report.
Shin WY et al.
Bmc Medical Genomics, 2022
DDX41: a multifunctional DEAD-box protein involved in pre-mRNA splicing and innate immunity.
Andreou AZ
Biological Chemistry, 2021
Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data.
Wan Z et al.
Therapeutic Advances in Hematology, 2021
Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.
Li J et al.
Journal of Translational Medicine, 2020
Insights into the Involvement of Spliceosomal Mutations in Myelodysplastic Disorders from Analysis of SACY-1/DDX41 in Caenorhabditis elegans.
Tsukamoto T et al.
Genetics, 2020
Myeloid Neoplasm With Germline Predisposition: A 2016 Update for Pathologists.
Gao J et al.
Archives of Pathology & Laboratory Medicine, 2019
Myeloid neoplasms with germline DDX41 mutation.
Cheah JJC et al.
International Journal of Hematology, 2017
Structural and functional analyses of human DDX41 DEAD domain.
Jiang Y et al.
Protein & Cell, 2017
Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists.
Duployez N et al.
Expert Review of Hematology, 2016
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Lewinsohn M et al.
Blood, 2016