Chlon Lab

Publications

Badar, T; Kumar, M; Kusne, Y; Lasho, T; Foran, J; Murthy, H; Kharfan-Dabaja, M; Chlon, T; Gangat, N; Alkhateeb, H; Ferrer, A; Litzow, M; Al-Kali, A; Patnaik, M. Decoding DDX41: Clinical impact of germline and somatic mutations in 77 high-risk myeloid neoplasm patients. Blood. 2025; 146(Supplement 1):1442.

Kida, J; Fricker, M; Stepanchick, E; Kusne, Y; Badar, T; Lasho, T; Patnaik, M; Chlon, T. 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.

Fisher, J; Stepanchick, E; Wilson, A; Kida, J; Badar, T; Lasho, T; Kusne, Y; Patnaik, M; Chlon, T. 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.

Kusne, Y; Badar, T; Lasho, T; Marando, L; Mangaonkar, AA; Finke, C; Foran, JM; Al-Kali, A; Palmer, J; Arana Yi, C; Litzow, MR; Chlon, T; Ferrer, A; Patnaik, MM. Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome. British Journal of Haematology. 2025; 206(4):1109-1120.

Kida, J; Chlon, TM. Germline DDX41 mutations in myeloid neoplasms: the current clinical and molecular understanding. Current Opinion in Hematology. 2025; 32(2):67-76.

Kida, J; Fricker, M; Stepanchick, E; Chlon, T. 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.

Kusne, Y; Badar, T; Lasho, TL; Marando, L; Mangaonkar, AA; Finke, C; Foran, JM; Al-Kali, A; Alkhateeb, HB; Gangat, N; Litzow, MR; Chlon, T; Ferrer, A; Patnaik, MM. Prevalence and Clinical Features of Non-Myeloid Neoplasms in Patients with DDX41 Mutant Germline Predisposition Syndrome. Blood. 2024; 144(Supplement 1):440-440.

Kusne, Y; Badar, T; Lasho, TL; Marando, L; Mangaonkar, AA; Finke, C; Foran, JM; Al-Kali, A; Alkhateeb, HB; Gangat, N; Tefferi, A; Chlon, T; Ferrer, A; Patnaik, MM. Clinical Characteristics of Myeloproliferative Neoplasms in Patients with DDX41 MT Germline Predisposition Syndrome. Blood. 2024; 144(Supplement 1):3183-3183.

Kusne, Y; Badar, T; Lasho, T; Ferrer, A; Mangaonkar, AA; Finke, C; Marando, L; Foran, JM; Al-Kali, A; Alkhateeb, HB; Chlon, T; Patnaik, MM. Absence of PNH-clones in DDX41mutant-GPS aids in their distinction from acquired BM failure syndromes. Leukemia Research. 2024; 145:107561.

Stepanchick, E; Wilson, A; Sulentic, AM; Choi, K; Hueneman, K; Starczynowski, DT; Chlon, TM. DDX41 haploinsufficiency causes inefficient hematopoiesis under stress and cooperates with p53 mutations to cause hematologic malignancy. Leukemia. 2024; 38(8):1787-1798.

Chlon, T; Stepanchick, E; Finke, CM; Lasho, TL; Badar, T; Ferrer, A; Patnaik, MM. Genetic Complementation Studies Reveal That Many Disease-Associated DDX41 Variants Do Not Cause Loss of Protein Function. Blood. 2023; 142(Supplement 1):4104.

Badar, T; Lasho, TL; Kusne, Y; Marando, L; Mangaonkar, AA; Finke, CM; Foran, JM; Al-Kali, A; Alkhateeb, H; Gangat, N; Litzow, MR; Chlon, T; Ferrer, A; Patnaik, MM. Clinical and Molecular Spectrum of Somatic Mosaic States in DDX41 mutant Germline Predisposition Syndromes. Blood. 2023; 142(Supplement 1):4618.

Chlon, TM; Patnaik, MM. Germline DDX41 mutant predisposition syndromes: Slow driver states to hematological malignancies. American Journal of Hematology. 2023; 98(11):1673-1676.

Badar, T; Nanaa, A; Foran, JM; Viswanatha, D; Al-Kali, A; Lasho, T; Finke, C; Alkhateeb, HB; He, R; Gangat, N; Ongie, LJ; Chlon, T; Ferrer, A; Patnaik, MM. Clinical and molecular correlates of somatic and germline DDX41 variants in patients and families with myeloid neoplasms. Haematologica. 2023; 108(11):3033-3043.

Chlon, T; Stepanchick, E; Sulentic, A; Wilson, A; Starczynowski, D. 3040 – HETEROZYGOUS MUTATIONS IN DDX41 CAUSE ERYTHROID PROGENITOR CELL DEFECTS AND COOPERATE WITH P53 MUTATIONS TO CAUSE HEMATOLOGIC MALIGNANCY. Experimental Hematology. 2023; 124:s70.

Badar, T; Chlon, T. Germline and Somatic Defects in DDX41 and its Impact on Myeloid Neoplasms. Current Hematologic Malignancy Reports. 2022; 17(5):113-120.

Niederkorn, M; Ishikawa, C; M Hueneman, K; Bartram, J; Stepanchick, E; R Bennett, J; E Culver-Cochran, A; Bolanos, LC; Uible, E; Choi, K; Wunderlich, M; Perentesis, JP; M Chlon, T; Filippi, M-D; Starczynowski, DT. The deubiquitinase USP15 modulates cellular redox and is a therapeutic target in acute myeloid leukemia. Leukemia. 2022; 36(2):438-451.