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Sana Emberesh
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Journal Articles

The Dominant Negative Acting VPS4A E228Q Mutation Causes Dyserythropoiesis in Human iPSC-Derived Erythroblast Cultures That Phenocopies Cimdag Syndrome-Associated Anemia

Courtney Gatterdam, Sana Emberesh, Yasmin Elgammal, Carolyn Lutzko, Lionel Blanc, Jose Cancelas, Theodosia A. Kalfa, Katie Seu
Journal: Blood
Blood (2024) 144 (Supplement 1): 2458.
https://doi.org/10.1182/blood-2024-211628
Published: 2024
Journal Articles

Erythrocyte Disorders Mimicking Congenital Dyserythropoietic Anemia Based on Bone Marrow Pathology Exposed By Genetic Evaluation

Jacopo Ceolan, Katie Seu, Athina Ntoumaziou, Yasmin Elgammal, Sana Emberesh, Lisa Bilston, Donald Richards, Kathryn E. Dickerson, Satheesh Chonat, Natalia Rydz, Carolyn Lutzko, Ammar Husami, Wenying Zhang, Theodosia A. Kalfa
Journal: Blood
Blood (2023) 142 (Supplement 1): 2459.
https://doi.org/10.1182/blood-2023-189140
Published: 2023
Journal Articles

De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts

Aikaterini Voulgaridou, Yasmin Elgammal, Ammar Husami, Sana Emberesh, Katie Seu, Mahesh Ramamoorthy, Lisa Trump, Nathaniel Barasa, Adam S. Nelson, Robert B. Lorsbach, Laurel Romano, Nathan A. Salomonis, Wenying Zhang, Carolyn Lutzko, Theodosia A. Kalfa
Journal: Blood
Blood (2022) 140 (Supplement 1): 1234–1235.
https://doi.org/10.1182/blood-2022-166509
Published: 2022
Journal Articles

SERF1 Is Required for G-CSF Resistance of Start-Codon Mutant ELANE Granulocytic Precursors

Ramesh C Nayak, Lisa Trump, Sana Emberesh, Yarim Lee, Abhishek K Singh, Ashley M Wellendorf, Marshall S. Horwitz, Theodosia A. Kalfa, Carolyn Lutzko, Jose A. Cancelas
Journal: Blood
Blood (2021) 138 (Supplement 1): 433.
https://doi.org/10.1182/blood-2021-150899
Published: 2021
Journal Articles

VPS4A mutations Cause a Syndrome with Dyserythropoiesis, Hemolytic Anemia, and Neurodevelopmental Delay

Katie Giger Seu, PhD, Lisa Trump, PhD, Sana Emberesh, MBBS, Robert B. Lorsbach, MD PhD, Clarissa E. Johnson, MD, Jessica Meznarich, MD, Hunter Underhill, MD PhD, Haripriya Sakthivel, Omar Niss, MD, Shannon Nortman, Lionel Blanc, PhD, Wenying Zhang, MD PhD, Carolyn Lutzko, PhD, Theodosia A. Kalfa, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 339.
https://doi.org/10.1182/blood-2019-128230
Published: 2019
Journal Articles

Peroxiredoxin II ( PRDX2 ) Is a Novel Candidate Gene for Congenital Dyserythropoietic Anemia

Myesa Emberesh, MBBS, Katie Giger Seu, PhD, Sana Emberesh, MBBS, Lisa Trump, Mary Risinger, PhD, Wenying Zhang, MD PhD, Ammar Husami, Carolyn Lutzko, PhD, Vinod Gidvani-Diaz, Robert B. Lorsbach, MD PhD, Theodosia A. Kalfa, MD PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 3605.
https://doi.org/10.1182/blood-2018-99-120056
Published: 2018