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
Applicability of current prognostication models for MDS patients with DDX41 mutation.
Toumeh N et al.
Leukemia Research, 2025
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
Overall cancer risk in people with deleterious germline DDX41 variants.
Korotev SC et al.
Haematologica, 2025
Implementing a Genetic Counselor-Led Model for Hereditary Myeloid Malignancies: A Real-World Study.
VanDerGraaf M et al.
Cancer Medicine, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 2025
Clinical Outcome and Molecular Profile in Patients with DDX41 Mutation Hot-Spots.
Toumeh N et al.
Hematology 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
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
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
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-associated susceptibility to myeloid neoplasms.
Makishima H et al.
Blood, 2023
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Saygin C et al.
Blood Advances, 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
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
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 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
Molecular Pathogenesis in Myeloid Neoplasms with Germline Predisposition.
Gao J et al.
Life (basel, Switzerland), 2021
Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
Singhal D et al.
Leukemia, 2021
Clinical and Pathologic Spectrum of DDX41-Mutated Hematolymphoid Neoplasms.
Goyal T et al.
American Journal of Clinical Pathology, 2021
Internal Standardization of the Interpretation and Reporting of Sequence Variants in Hematologic Neoplasms.
Mehta N et al.
Molecular Diagnosis & Therapy, 2021
Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data.
Wan Z et al.
Therapeutic Advances in Hematology, 2021
[Lenalidomide for myelodysplastic syndrome with excess blasts with germline DDX41 mutation: a case report and literatures review].
Chen J et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2020
Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B et al.
Scientific Reports, 2020
Strategy for identification of a potential inherited leukemia predisposition in a 299 patient's cohort with tumor-only sequencing data.
Aguilera-Diaz A et al.
Leukemia Research, 2020
Successful lenalidomide treatment in high risk myelodysplastic syndrome with germline DDX41 mutation.
Abou Dalle I et al.
American Journal of Hematology, 2020
Correct application of variant classification guidelines in germline RUNX1 mutated disorders to assist clinical diagnosis.
Brown AL et al.
Leukemia & Lymphoma, 2020
DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high-risk disease.
Quesada AE et al.
American Journal of Hematology, 2019
Novel germline missense DDX41 variant in a patient with an adult-onset myeloid neoplasm with excess blasts without dysplasia.
Vairo FPE et al.
Leukemia & Lymphoma, 2019
Myeloid Neoplasm With Germline Predisposition: A 2016 Update for Pathologists.
Gao J et al.
Archives of Pathology & Laboratory Medicine, 2019
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.
Drazer MW et al.
Blood Advances, 2018
Myeloid neoplasms with germline DDX41 mutation.
Cheah JJC et al.
International Journal of Hematology, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
Recognition of familial myeloid neoplasia in adults.
Brown AL et al.
Seminars in Hematology, 2017
Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition.
Baptista RLR et al.
Frontiers in Oncology, 2017
Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia.
Li R et al.
Haematologica, 2016
Hereditary Predispositions to Myelodysplastic Syndrome.
Bannon SA et al.
International Journal of Molecular Sciences, 2016