Varaico: Literature-Extracted Genetic Variants

Gene:DDX41
Variant:p.A500fs
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DDX41

NM_016222.4:p.A500fs

Associated Papers

Refinement of the classification of DDX41 variants through analysis of aggregated clinical datasets.

Tiong IS et al.

Leukemia, 2026

Beyond somatic mutations: the role of next-generation sequencing in identifying germline predisposition in patients with acute myeloid leukemia.

Loghavi S et al.

Haematologica, 2026

Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.

Elbaz Younes I et al.

Cancers, 2026

Clinical and Molecular Spectrum of DDX41 Variants in Korean Patients with Hematologic Malignancies.

Kim B et al.

Journal of Clinical Medicine, 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

Molecular pathophysiology of germline mutations in acute myeloid leukemia.

Nagata Y

International Journal of Hematology, 2024

A molecular glue RBM39-degrader induces synthetic lethality in cancer cells with homologous recombination repair deficiency.

Kohsaka S et al.

Npj Precision Oncology, 2024

38789724 (PubMed )
Supplement: 41698_2024_610_MOESM3_ESM.xlsx › Supplementary_Data_2

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

DDX41: exploring the roles of a versatile helicase.

Winstone L et al.

Biochemical Society Transactions, 2024

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc1.pdf

DDX41-associated susceptibility to myeloid neoplasms.

Makishima H et al.

Blood, 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

Clinical and mechanistic insights into the roles of DDX41 in haematological malignancies.

Weinreb JT et al.

Febs Letters, 2022

Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms.

Badar T et al.

Current Hematologic Malignancy Reports, 2022

DDX41: the poster child for familial AML.

Rio-Machin A et al.

Blood, 2022

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

Integrating germline variant assessment into routine clinical practice for myelodysplastic syndrome and acute myeloid leukaemia: current strategies and challenges.

Tawana K et al.

British Journal of Haematology, 2022

Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia.

Choi EJ et al.

Haematologica, 2022

Germline predisposition to hematopoietic malignancies.

Feurstein S et al.

Human Molecular Genetics, 2021

Inherited predisposition to haematopoietic malignancies: overcoming barriers and exploring opportunities.

Trottier AM et al.

British Journal of Haematology, 2021

Genetics of Myelodysplastic Syndromes.

Saygin C et al.

Cancers, 2021

Advances in germline predisposition to acute leukaemias and myeloid neoplasms.

Klco JM et al.

Nature Reviews. Cancer, 2021

Clinical features of DDX41 mutation-related diseases: a systematic review with individual patient data.

Wan Z et al.

Therapeutic Advances in Hematology, 2021

Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Yasuda T et al.

Cancer Science, 2020

DDX41-related myeloid neoplasia.

Maciejewski JP et al.

Seminars in Hematology, 2017

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