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
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
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
Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.
Lahtinen AK et al.
British Journal of Haematology, 2025
Clinicopathological and prognostic significance of DDX41 mutation in myeloid neoplasms: a systematic review and meta-analysis.
Miao L et al.
Annals of Hematology, 2025
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 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
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
Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.
Liu YC et al.
Annual Review of Pathology, 2025
Molecular taxonomy of myelodysplastic syndromes and its clinical implications.
Bernard E et al.
Blood, 2024
Implementation of and Systems-Level Barriers to Guideline-Driven Germline Genetic Evaluation in the Care of Patients With Myelodysplastic Syndrome and Acute Myeloid Leukemia.
Banaszak LG et al.
Jco Precision Oncology, 2024
Integrative Analysis of Germline Rare Variants in Clear and Non-clear Cell Renal Cell Carcinoma.
Han SH et al.
European Urology Open Science, 2024
Genomic testing for germline predisposition to hematologic malignancies.
Hwang SM
Blood Research, 2024
Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.
Trottier AM et al.
Best Practice & Research. Clinical Haematology, 2024
DDX41: exploring the roles of a versatile helicase.
Winstone L et al.
Biochemical Society Transactions, 2024
VEXAS syndrome in a patient with DDX41 germline predisposition syndrome.
Kusne Y et al.
Leukemia Research, 2024
Multifunctional role of DEAD-box helicase 41 in innate immunity, hematopoiesis and disease.
Ma J et al.
Frontiers in Immunology, 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
Characteristics and clinical outcomes of patients with myeloid malignancies and DDX41 variants.
Bataller A et al.
American Journal of Hematology, 2023
Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia.
Olkinuora A et al.
Leukemia, 2023
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC et al.
Blood Advances, 2023
Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity.
Molteni E et al.
Blood, 2023
DDX41 mutations in patients with non-myeloid hematologic neoplasms.
Jelloul FZ et al.
American Journal of Hematology, 2023
Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.
Nannya Y et al.
Blood Advances, 2023
Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along With JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented With Features of Essential Thrombocythemia.
Gray AL et al.
Journal of Pediatric Hematology/oncology, 2023
DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation.
Rolles B et al.
Blood Cancer Journal, 2023
Increased clonal hematopoiesis involving DNA damage response genes in patients undergoing lung transplantation.
Tague LK et al.
Jci Insight, 2023
DDX41-associated susceptibility to myeloid neoplasms.
Makishima H et al.
Blood, 2023
Genomic and transcriptomic analyses identify a prognostic gene signature and predict response to therapy in pleural and peritoneal mesothelioma.
Nair NU et al.
Cell Reports. Medicine, 2023
Germ line DDX41 mutations define a unique subtype of myeloid neoplasms.
Makishima H et al.
Blood, 2023
Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.
Han S et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Current Understanding of DDX41 Mutations in Myeloid Neoplasms.
Kim K et al.
Cancers, 2023
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.
Lahtinen AK et al.
Bone Marrow Transplantation, 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
Pediatric Germline Predisposition to Myeloid Neoplasms.
Thompson C et al.
Current Hematologic Malignancy Reports, 2022
Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms.
Badar T et al.
Current Hematologic Malignancy Reports, 2022
Designing Myeloid Gene Panels.
Zhao F et al.
Archives of Pathology & Laboratory Medicine, 2022
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M et al.
Blood Cancer Discovery, 2022
Acquired somatic variants in inherited myeloid malignancies.
Armes H et al.
Leukemia, 2022