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Journal Articles

Transcriptomic analysis uncovers hidden intronic and synonymous pathogenic variants in red cell membrane disorders

Wenying Zhang, Yasmin Elgammal, Ammar Husami, Aikaterini Voulgaridou, Haripriya Sakthivel, Marcus Cannon, Leah Bonavita, Michael Grimley, Matthew Heeney, Athina Ntoumaziou, Mary Risinger, Elizabeth Yang, Theodosia Kalfa

Blood (2025) 146 (Supplement 1): 282.

https://doi.org/10.1182/blood-2025-282

Published: 2025

Journal Articles

Erythroid-specific, inducible CDAN1∆/∆ mouse model phenocopies congenital dyserythropoietic anemia type-la

Corbin Azucenas, Aikaterini Voulgaridou, Yasmin Elgammal, Athina Ntoumaziou, Mary Risinger, Katie Seu, Sidharth Sen, Leah Kottyan, Nathan Salomonis, Theodosia Kalfa

Blood (2025) 146 (Supplement 1): 186.

https://doi.org/10.1182/blood-2025-186

Published: 2025

Journal Articles

Characterization of the human erythromyeloblastic islands (EMBIs)

Yasmin Elgammal, Athina Ntoumaziou, Laurel Romano, Lionel Blanc, Katie Seu, Nathan Salomonis, Theodosia Kalfa

Blood (2025) 146 (Supplement 1): 182.

https://doi.org/10.1182/blood-2025-182

Published: 2025

Journal Articles

Biomarkers of ineffective erythropoiesis in patients with sickle cell anemia, at baseline and while treated with hydroxyurea, in comparison to patients with other iron-loading red cell disorders

Yasmin Elgammal, Lubna Hamdan, Mary Risinger, Diamantis Kostantinidis, Katie Seu, Kathryn McElhinney, Omar Niss, Elizabeta Nemeth, Charles Quinn, Russell Ware, Theodosia Kalfa

Blood (2025) 146 (Supplement 1): 4686.

https://doi.org/10.1182/blood-2025-4686

Published: 2025

Journal Articles

Congenital dyserythropoietic anemia type I: Updated report from the congenital dyserythropoietic anemia registry of North America

Blood (2025) 146 (Supplement 1): 4685.

https://doi.org/10.1182/blood-2025-4685

Published: 2025

Journal Articles

Biomarkers of ineffective erythropoiesis in patients with transfusion- dependent thalassemia

Lubna Hamdan, Yasmin Elgammal, Amy Shova, Banu Aygun, Charles Quinn, Omar Niss, Theodosia Kalfa

Blood (2025) 146 (Supplement 1): 4684.

https://doi.org/10.1182/blood-2025-4684

Published: 2025

Journal Articles

Hereditary spherocytic pyropoikilocytosis: Expanding the clinical and genetic spectrum of red blood cell membrane disorders

Athina Ntoumaziou, Ammar Husami, Mary Risinger, Yasmin Elgammal, Aikaterini Voulgaridou, John Leister, Katie Seu, Wenying Zhang, Theodosia Kalfa

Blood (2025) 146 (Supplement 1): 4667.

https://doi.org/10.1182/blood-2025-4667

Published: 2025

Journal Articles

Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis

Athina Ntoumaziou, Duc Nguyen, Yasmin Elgammal, Ammar Husami, Wenying Zhang, Kaitlin D Weaver, Jennifer L. Kasten, David D. Grier, Yi Zheng, Carolyn Lutzko, Mary Risinger, Jan Frayne, Katie Seu, Theodosia A. Kalfa

Blood (2024) 144 (Supplement 1): 1084.

https://doi.org/10.1182/blood-2024-210280

Published: 2024

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

Blood (2024) 144 (Supplement 1): 2458.

https://doi.org/10.1182/blood-2024-211628

Published: 2024

Journal Articles

Inducible, Erythroid-Specific Knockout of Codanin-1 in Adult Mice Replicates Congenital Dyserythropoietic Anemia Type-Ia

Corbin R Azucenas, Aikaterini Voulgaridou, Maria Stewart, Athina Ntoumaziou, Yasmin Elgammal, Katie Seu, Theodosia A. Kalfa

Blood (2024) 144 (Supplement 1): 1071.

https://doi.org/10.1182/blood-2024-208959

Published: 2024

Journal Articles

Congenital Dyserythropoietic Anemia Type II: An Update from the Congenital Dyseryhtropoietic Anemia Registry of North America (CDAR)

Yasmin Elgammal, Mary Risinger, Ammar Husami, Joseph Walden, Sweta Gupta, Niketa C. Shah, James Boyer, Yasmina L. Abajas, Michael Winstead, David W. Miller, Viviana Vidal-Anaya, Adrianna Vlachos, Ashutosh Lal, Arthur K. Ritchey, Robert Lorsbach, Wenying Zhang, Theodosia A. Kalfa, Omar Niss

Blood (2023) 142 (Supplement 1): 1079.

https://doi.org/10.1182/blood-2023-189389

Published: 2023

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

Blood (2023) 142 (Supplement 1): 2459.

https://doi.org/10.1182/blood-2023-189140

Published: 2023

Journal Articles

Rapid Assessment of Hemoglobin-Oxygen Dissociation

Zoe Sekyonda, Cissy Kityo, Yasmin Elgammal, Theodosia A. Kalfa, Ozan Akkus, Umut A. Gurkan

Blood (2023) 142 (Supplement 1): 2270.

https://doi.org/10.1182/blood-2023-187503

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

Blood (2022) 140 (Supplement 1): 1234–1235.

https://doi.org/10.1182/blood-2022-166509

Published: 2022

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Transcriptomic analysis uncovers hidden intronic and synonymous pathogenic variants in red cell membrane disorders

Erythroid-specific, inducible CDAN1∆/∆ mouse model phenocopies congenital dyserythropoietic anemia type-la

Characterization of the human erythromyeloblastic islands (EMBIs)

Biomarkers of ineffective erythropoiesis in patients with sickle cell anemia, at baseline and while treated with hydroxyurea, in comparison to patients with other iron-loading red cell disorders

Congenital dyserythropoietic anemia type I: Updated report from the congenital dyserythropoietic anemia registry of North America

Biomarkers of ineffective erythropoiesis in patients with transfusion- dependent thalassemia

Hereditary spherocytic pyropoikilocytosis: Expanding the clinical and genetic spectrum of red blood cell membrane disorders

Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis

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

Inducible, Erythroid-Specific Knockout of Codanin-1 in Adult Mice Replicates Congenital Dyserythropoietic Anemia Type-Ia

Congenital Dyserythropoietic Anemia Type II: An Update from the Congenital Dyseryhtropoietic Anemia Registry of North America (CDAR)

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

Rapid Assessment of Hemoglobin-Oxygen Dissociation

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

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American Society of Hematology

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American Society of Hematology

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