Associated Papers
Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.
Tiong IS et al.
Leukemia, 2026
Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.
Elbaz Younes I et al.
Cancers, 2026
Overall cancer risk in people with deleterious germline DDX41 variants.
Korotev SC et al.
Haematologica, 2025
Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.
Tesi B et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
40388595 (PubMed )
Supplement: ccr-24-4251_supplementary_table_3_suppst3.xlsx › Supplementary_table_3
Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome.
Kusne Y et al.
British Journal of Haematology, 2025
Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts.
Hendricks RM et al.
Leukemia, 2025
Molecular taxonomy of myelodysplastic syndromes and its clinical implications.
Bernard E et al.
Blood, 2024
38958467 (PubMed )
Supplement: BLOOD_BLD-2023-023727-mmc1.xlsx › Table_S6__DDX41_
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
Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.
Badar T et al.
Haematologica, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2
DDX41-associated susceptibility to myeloid neoplasms.
Makishima H et al.
Blood, 2023
Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.
Makishima H et al.
Blood, 2023
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
Myeloid neoplasms with germline DDX41 mutation.
Cheah JJC et al.
International Journal of Hematology, 2017
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