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.DDX41 haploinsufficiency causes inefficient hematopoiesis under stress and cooperates with p53 mutations to cause hematologic malignancy. Leukemia. 2024; 38:1787-1798.
.Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms. Haematologica: the hematology journal. 2023; 108:3033-3043.
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. Abstract A46: Heterozygous mutations in DDX41 cause erythroid progenitor cell defects and cooperate with p53 mutations to cause hematologic malignancy.Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms. Current Hematologic Malignancy Reports. 2022; 17:113-120.
.The deubiquitinase USP15 modulates cellular redox and is a therapeutic target in acute myeloid leukemia. Leukemia. 2022; 36:438-451.
.Germline DDX41 mutations cause ineffective hematopoiesis and myelodysplasia. Cell Stem Cell. 2021; 28:1966-1981.e6.
.Inherited DNA Repair Defects Disrupt the Structure and Function of Human Skin. Cell Stem Cell. 2021; 28:424-435.e6.
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