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
Scaffolding-dependent CASP1 constrains excessive cell-intrinsic inflammatory signaling in leukemia. Cell Chemical Biology. 2026; 33(1):59-73.e10.
Decoding DDX41: Clinical impact of germline and somatic mutations in 77 high-risk myeloid neoplasm patients. Blood. 2025; 146(Supplement 1):1442.
The somatic DDX41 hot spot mutation (p.R525H) causes skewed differentiation into plasmacytoid dendritic cells in human iPSC and leukemia models. Blood. 2025; 146(Supplement 1):678-678.
The somatic hotspot mutation of DDX41 (p.R525H) elicits dominant-negative effects upon non-truncating germline variants, explaining similar disease risk as truncating variants. Blood. 2025; 146(Supplement 1):3221-3221.
Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome. British Journal of Haematology. 2025; 206(4):1109-1120.
Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding. Current Opinion in Hematology. 2025; 32(2):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(Supplement 1):4089-4089.
Prevalence and Clinical Features of Non-Myeloid Neoplasms in Patients with DDX41 Mutant Germline Predisposition Syndrome. Blood. 2024; 144(Supplement 1):440-440.
Clinical Characteristics of Myeloproliferative Neoplasms in Patients with DDX41 MT Germline Predisposition Syndrome. Blood. 2024; 144(Supplement 1):3183-3183.
Absence of PNH-clones in DDX41mutant-GPS aids in their distinction from acquired BM failure syndromes. Leukemia Research. 2024; 145:107561.
Timothy M. Chlon, PhD, Daniel T. Starczynowski, PhD9/1/2021