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Emily Stepanchick
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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 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 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

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

Heterozygous Mutations in DDX41 Cause Erythroid Progenitor Cell Defects

Free
Timothy M Chlon, Emily Stepanchick, Analise Sulentic, Kathleen Hueneman, Daniel Starczynowski
Journal: Blood
Blood (2021) 138 (Supplement 1): 148.
https://doi.org/10.1182/blood-2021-153544
Published: 2021
Journal Articles

The Inherited MDS Gene DDX41 Is Essential for Ribosomal RNA Processing through Regulation of Snorna Biogenesis

Free
Timothy M Chlon, PhD, Emily Stepanchick, Daniel Starczynowski, PhD, Kathleen Hueneman
Journal: Blood
Blood (2020) 136 (Supplement 1): 40.
https://doi.org/10.1182/blood-2020-143222
Published: 2020
Journal Articles

The Inherited MDS Gene DDX41 Is Required for Ribosome Biogenesis and Cell Viability

Free
Timothy M Chlon, PhD, Emily Stepanchick, Kwangmin Choi, PhD, Yi Zheng, PhD, Kathleen Hueneman, Ashley Davis, Daniel T. Starczynowski, PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 773.
https://doi.org/10.1182/blood-2019-127471
Published: 2019
Journal Articles

Mutational Analysis of Patients with Primary Resistance to Single-Agent Ibrutinib in Relapsed or Refractory Mantle Cell Lymphoma (MCL)

Free
Sriram Balasubramanian, Michael Schaffer, William Deraedt, Cuc Davis, Emily Stepanchick, Regina Aquino, Zhilong Yuan, Britte Kranenburg, Irit Avivi, Martin Dreyling, Simon Rule, Michael Wang, MD, Sen Hong Zhuang, Aleksandra Rizo, Georg Lenz
Journal: Blood
Blood (2014) 124 (21): 78.
https://doi.org/10.1182/blood.V124.21.78.78
Published: 2014
Journal Articles

Biomarker Analysis in a Phase Ib Study Combining Ibrutinib with R-CHOP in Patients with CD20-Positive B-Cell Non-Hodgkin Lymphoma (NHL)

Free
Shalini Chaturvedi, Michael Schaffer, Cuc Davis, Regina Aquino, Emily Stepanchick, Yasuhiro Oki, Nele Fourneau, Anas Younes, Sriram Balasubramanian
Journal: Blood
Blood (2014) 124 (21): 2965.
https://doi.org/10.1182/blood.V124.21.2965.2965
Published: 2014
Journal Articles

Effects of Ibrutinib on Rituximab and GA-101 Induced Antibody-Dependent Cell Cytotoxicity (ADCC) in Lymphoma Cells in Vitro

Free
Cuc Davis, Emily Stepanchick, Khaja Syed, Amy Axel, Brett Hall, Kate Sasser, Sriram Balasubramanian
Journal: Blood
Blood (2014) 124 (21): 3117.
https://doi.org/10.1182/blood.V124.21.3117.3117
Published: 2014