. Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome. British Journal of Haematology. 2025; 206:1109-1120.
. Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding. Current Opinion in Hematology. 2025; 32:67-76.
. The Most Common Somatic DDX41 Mutation (p.R525H) Causes Loss of an Essential Function and Is Selected Against in Human iPSC and Leukemia Models. Blood. 2024; 144:4089.
. Clinical Characteristics of Myeloproliferative Neoplasms in Patients with DDX41 MT Germline Predisposition Syndrome. Blood. 2024; 144:3183.
. Prevalence and Clinical Features of Non-Myeloid Neoplasms in Patients with DDX41 Mutant Germline Predisposition Syndrome. Blood. 2024; 144:440.
. Absence of PNH-clones in DDX41mutant-GPS aids in their distinction from acquired BM failure syndromes. Leukemia Research: clinical and laboratory studies. 2024; 145:107561.
. DDX41 haploinsufficiency causes inefficient hematopoiesis under stress and cooperates with p53 mutations to cause hematologic malignancy. Leukemia. 2024; 38:1787-1798.
. Clinical and Molecular Spectrum of Somatic Mosaic States in DDX41 mutant Germline Predisposition Syndromes. Blood. 2023; 142:4618.
. Genetic Complementation Studies Reveal That Many Disease-Associated DDX41 Variants Do Not Cause Loss of Protein Function. Blood. 2023; 142:4104.
. 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.
. Germline DDX41 mutant predisposition syndromes: Slow driver states to hematological malignancies. American Journal of Hematology. 2023; 98:1673-1676.
. 3040 – HETEROZYGOUS MUTATIONS IN DDX41 CAUSE ERYTHROID PROGENITOR CELL DEFECTS AND COOPERATE WITH P53 MUTATIONS TO CAUSE HEMATOLOGIC MALIGNANCY. Experimental Hematology. 2023; 124:s70.
. 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.