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
Genomic variation in DDX41 identified through clinical sequencing.
Wells C et al.
British Journal of Haematology, 2025
Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.
Sharma P et al.
Human Genetics, 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
37874914 (PubMed )
Supplement: BLOODA_ADV-2023-011389-mmc1.xlsx › Table_S3
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
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