Associated Papers
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
Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors.
Öfverholm I et al.
Cancers, 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
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
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC et al.
Blood Advances, 2023
DDX41 mutations in patients with non-myeloid hematologic neoplasms.
Jelloul FZ et al.
American Journal of Hematology, 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
Current Understanding of DDX41 Mutations in Myeloid Neoplasms.
Kim K et al.
Cancers, 2023
Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.
DeRoin L et al.
Human Mutation, 2022
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
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
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
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition.
Baptista RLR et al.
Frontiers in Oncology, 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