Associated Papers
Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.
Mars Z et al.
Medrxiv : the Preprint Server for Health Sciences, 2026
Myeloid neoplasms risks for germline DDX41 pathogenic variants carriers.
Villy MC et al.
European Journal of Human Genetics : Ejhg, 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
Genotype-integrated single-cell transcriptome analysis reveals the role of DDX41 pR525H in a patient with myelodysplastic neoplasms.
Matsui H et al.
Scientific Reports, 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
Molecular taxonomy of myelodysplastic syndromes and its clinical implications.
Bernard E 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
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F et al.
Blood Advances, 2023
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
Current Understanding of DDX41 Mutations in Myeloid Neoplasms.
Kim K et al.
Cancers, 2023
Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.
Cheng WY et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.
Andrés-Zayas C et al.
Molecular Oncology, 2021
Next-generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia.
Zhang Y et al.
Ejhaem, 2021
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
Germline DDX41 mutations define a significant entity within adult MDS/AML patients.
Sébert M et al.
Blood, 2019