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Timothy Chlon
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Journal Articles

Decoding DDX41: Clinical impact of germline and somatic mutations in 77 high-risk myeloid neoplasm patients

Free
Talha Badar, Mahesh Kumar, Yael Kusne, Terra Lasho, James Foran, Hemant Murthy, Mohamed Kharfan-Dabaja, Timothy Chlon, Naseema Gangat, Hassan Alkhateeb, Abhishek Mangaonkar, Rong He, David Viswanatha, Jennifer Jiang, Yao-Shan Fan, Alejandro Ferrer, Mark Litzow, Aref Al-Kali, Mrinal Patnaik
Journal: Blood
Blood (2025) 146 (Supplement 1): 1442.
https://doi.org/10.1182/blood-2025-1442
Published: 2025
Journal Articles

The somatic DDX41 hot spot mutation (p.R525H) causes skewed differentiation into plasmacytoid dendritic cells in human iPSC and leukemia models

Free
Junichiro Kida, Maggie Fricker, Emily Stepanchick, Yael Kusne, Talha Badar, Terra Lasho, Mrinal Patnaik, Timothy Chlon
Journal: Blood
Blood (2025) 146 (Supplement 1): 678.
https://doi.org/10.1182/blood-2025-678
Published: 2025
Journal Articles

The somatic hotspot mutation of DDX41 (p.R525H) elicits dominant-negative effects upon non-truncating germline variants, explaining similar disease risk as truncating variants.

Free
Julianna Fisher, Emily Stepanchick, Andrew Wilson, Junichiro Kida, Talha Badar, Terra Lasho, Yael Kusne, Mrinal Patnaik, Timothy Chlon
Journal: Blood
Blood (2025) 146 (Supplement 1): 3221.
https://doi.org/10.1182/blood-2025-3221
Published: 2025
Journal Articles

The Most Common Somatic DDX41 Mutation (p.R525H) Causes Loss of an Essential Function and Is Selected Against in Human iPSC and Leukemia Models

Free
Junichiro Kida, Maggie Fricker, Emily Stepanchick, Timothy Chlon
Journal: Blood
Blood (2024) 144 (Supplement 1): 4089.
https://doi.org/10.1182/blood-2024-208467
Published: 2024
Journal Articles

Clinical Characteristics of Myeloproliferative Neoplasms in Patients with DDX41 MT Germline Predisposition Syndrome

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Yael Kusne, Talha Badar, Terra L. Lasho, Ludovica Marando, Abhishek A. Mangaonkar, Christy Finke, James M. Foran, Aref Al-Kali, Hassan B Alkhateeb, Naseema Gangat, Jeanne Palmer, David Viswanatha, Mark R. Litzow, Animesh D. Pardanani, Ayalew Tefferi, Timothy Chlon, Alejandro Ferrer, Mrinal M. Patnaik
Journal: Blood
Blood (2024) 144 (Supplement 1): 3183.
https://doi.org/10.1182/blood-2024-202406
Published: 2024
Journal Articles

Prevalence and Clinical Features of Non-Myeloid Neoplasms in Patients with DDX41 Mutant Germline Predisposition Syndrome

Free
Yael Kusne, Talha Badar, Terra L. Lasho, Ludovica Marando, Abhishek A. Mangaonkar, Christy Finke, James M. Foran, Aref Al-Kali, Hassan B Alkhateeb, Naseema Gangat, Jeanne Palmer, David Viswanatha, Mark R. Litzow, Timothy Chlon, Alejandro Ferrer, Mrinal M. Patnaik
Journal: Blood
Blood (2024) 144 (Supplement 1): 440.
https://doi.org/10.1182/blood-2024-203879
Published: 2024
Journal Articles

Genetic Complementation Studies Reveal That Many Disease-Associated DDX41 Variants Do Not Cause Loss of Protein Function

Free
Timothy Chlon, Emily Stepanchick, Christy M Finke, Terra L Lasho, Talha Badar, Alejandro Ferrer, Mrinal M. Patnaik
Journal: Blood
Blood (2023) 142 (Supplement 1): 4104.
https://doi.org/10.1182/blood-2023-181881
Published: 2023
Journal Articles

Clinical and Molecular Spectrum of Somatic Mosaic States in DDX41 mutant Germline Predisposition Syndromes

Free
Talha Badar, Terra L Lasho, Yael Kusne, Ludovica Marando, Abhishek A Mangaonkar, Christy M Finke, James M. Foran, Aref Al-Kali, Hassan Alkhateeb, Naseema Gangat, Rong He, David Viswanatha, Mark R. Litzow, Timothy Chlon, Alejandro Ferrer, Mrinal M. Patnaik
Journal: Blood
Blood (2023) 142 (Supplement 1): 4618.
https://doi.org/10.1182/blood-2023-187310
Published: 2023