BSc: University of Notre Dame, Notre Dame, IN, 2007.
PhD: Northwestern University, Chicago, IL, 2012.
Postdoctoral Fellow: Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, 2012-2020.
Inherited susceptibility to myelodysplastic syndrome, myeloid leukemia, and bone marrow failure; ribosome biogenesis and snoRNA processing
Experimental Hematology and Cancer Biology
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 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.
Abstract A46: Heterozygous mutations in DDX41 cause erythroid progenitor cell defects and cooperate with p53 mutations to cause hematologic malignancy. 2023; 4:a46.
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.
Timothy M. Chlon, PhD, Daniel T. Starczynowski, PhD9/1/2021