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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
Journal Articles

The First Registry for Patients with Congenital Dyserythropoietic Anemia in North America: Design and Preliminary Results

Omar Niss, MD, Robert B. Lorsbach, MD PhD, Georgios E Christakopoulos, MD, Lisa Trump, Megan Reynolds, Katie Giger, PhD, Clarissa E. Johnson, MD, Ammar Husami, David K. Buchbinder, MD MSHS, Jennifer A. Rothman, MD, Gavin D. Roach, MDMS, Adrienne Lee, MD, Vinod Gidvani-Diaz, Morgan L. McLemore, MD, Satheesh Chonat, MD, Adam S. Nelson, James B. Ball, MD, Bruce J. Aronow, PhD, Carolyn Lutzko, PhD, Kejian Zhang, MD MBA, Theodosia A. Kalfa, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 2210.
https://doi.org/10.1182/blood.V130.Suppl_1.2210.2210
Published: 2017
Journal Articles

VPS4A : A Novel Candidate Gene for Congenital Dyserythropoietic Anemia

Katie Giger, PhD, Georgios E Christakopoulos, MD, Lisa Trump, Clarissa E. Johnson, MD, Haripriya Sakthivel, Mary Risinger, Omar Niss, MD, Kejian Zhang, MD MBA, Lionel Blanc, PhD, Robert B. Lorsbach, MD PhD, Paritha I. Arumugam, PhD, Carolyn Lutzko, PhD, Theodosia A. Kalfa, MD PhD
Journal: Blood
Blood (2017) 130 (Supplement 1): 923.
https://doi.org/10.1182/blood.V130.Suppl_1.923.923
Published: 2017
Journal Articles

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms

Timothy Tidwell, Jeremy Wechsler, Ramesh C. Nayak, Lisa Trump, Stephen J. Salipante, Jerry C. Cheng, Jean Donadieu, Taly Glaubach, Seth J. Corey, H. Leighton Grimes, Carolyn Lutzko, Jose A. Cancelas, Marshall S. Horwitz
Journal: Blood
Blood (2014) 123 (4): 562–569.
https://doi.org/10.1182/blood-2013-07-513242
Published: 2014
Includes: Supplemental data
Journal Articles

Myelopoiesis From Induced Pluripotent Stem Cells Reveals The Role Of Elastase Activity In The Pathogenesis Of Severe Congenital Neutropenia

Ramesh C Nayak, PH.D., Lisa Trump, PhD, H. Leighton Grimes, PhD, Carolyn Lutzko, PhD, Jose A. Cancelas, M.D. PhD.
Journal: Blood
Blood (2013) 122 (21): 442.
https://doi.org/10.1182/blood.V122.21.442.442
Published: 2013