Associated Papers
Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.
Tiong IS et al.
Leukemia, 2026
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
Genomic variation in DDX41 identified through clinical sequencing.
Wells C et al.
British Journal of Haematology, 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
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
Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms.
Badar T et al.
Haematologica, 2023
DDX41 mutations in patients with non-myeloid hematologic neoplasms.
Jelloul FZ et al.
American Journal of Hematology, 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
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
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022
A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report.
Shin WY et al.
Bmc Medical Genomics, 2022
Clinical and Pathologic Spectrum of DDX41-Mutated Hematolymphoid Neoplasms.
Goyal T et al.
American Journal of Clinical Pathology, 2021
New progress in the study of germline susceptibility genes of myeloid neoplasms.
Bi L et al.
Oncology Letters, 2021
Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data.
Wan Z et al.
Therapeutic Advances in Hematology, 2021
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
Next-Generation Sequencing of DDX41 in Myeloid Neoplasms Leads to Increased Detection of Germline Alterations.
Bannon SA et al.
Frontiers in Oncology, 2020
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
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Lewinsohn M et al.
Blood, 2016
Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms.
Polprasert C et al.
Cancer Cell, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014