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Journal Articles

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

Free
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
Journal: Blood
Blood (2025) 146 (Supplement 1): 282.
https://doi.org/10.1182/blood-2025-282
Published: 2025
Journal Articles

MEFV E148Q-P369S-R408Q germ line variant identified from the adolescent imcd-tafro family conferred severe disease manifestations in a cohort of 37 patients with castleman disease

Free
Yumo Du, Shuangfeng Xie, Zhen Dai, Wenqi Jia, Wenjuan Li, Long Zhang, Guangzhou Du, Haijiao Zhang, Meiping Wu, Yiqing Li, Wenjuan Yang, Jie Xiao, Yongxun Zhuansun, Jianguo Li, Wenying Zhang, Shanping Jiang, Danian Nie, Kezhi Huang
Journal: Blood
Blood (2025) 146 (Supplement 1): 3007.
https://doi.org/10.1182/blood-2025-3007
Published: 2025
Journal Articles

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

Free
Lubna Hamdan, Yasmin Elgammal, Ammar Husami, Jessica Meznarich, Francisca Fasipe, Satheesh Chonat, Morgan McLemore, Jeffery Schwartz, Sarah Sahib, Timothy McCavit, Karol Kerr, Jane Chawla, Joshua Goldman, Amy Geddis, David Miller, Aniket Saha, Jorge Ruiz Lopez, Sioban Keel, Josée Brossard, Kathleen Overholt, Tiffany Lucas, Amy Shova, Carolyn Lutzko, Wenying Zhang, Robert Lorsbach, Omar Niss, Theodosia Kalfa
Journal: Blood
Blood (2025) 146 (Supplement 1): 4685.
https://doi.org/10.1182/blood-2025-4685
Published: 2025
Journal Articles

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

Free
Athina Ntoumaziou, Ammar Husami, Mary Risinger, Yasmin Elgammal, Aikaterini Voulgaridou, John Leister, Katie Seu, Wenying Zhang, Theodosia Kalfa
Journal: Blood
Blood (2025) 146 (Supplement 1): 4667.
https://doi.org/10.1182/blood-2025-4667
Published: 2025
Journal Articles

Replicative stress-induced aging of hematopoietic stem progenitor cells increases oncogenic mutation burden and incidence of myelodysplasia in sickle cell disease mice

Free
Mengna Chi, Fabienne Lucas, Ammar Husami, Tahereh Setayesh, Zhenqi Zhu, Harsimran Kaur, Anifat Tijani, Shristi Khanal, Jing Chen, Wenying Zhang, Punam Malik
Journal: Blood
Blood (2025) 146 (Supplement 1): 11.
https://doi.org/10.1182/blood-2025-11
Published: 2025
Journal Articles

Beyond genotype: challenges in predicting disease risk for carriers of biallelic perforin variants

Open Access
Clinical Trials & Observations
Oliver Wegehaupt, Oleg Borisov, Elena Sieni, Florian Oyen, Jasmin Mann, Maria Luisa Coniglio, Aurora Chinnici, Francesco Pegoraro, Linda Beneforti, Kimberly Gilmour, Despina Moshous, Geneviève de Saint Basile, Wenying Zhang, Rebecca Marsh, Carmela De Fusco, Katharina Wustrau, Fabio Timeus, Concetta Micalizzi, Eberhard Gunsilius, Laine Hosking, Sharon Choo, Sujal Ghosh, Anna Köttgen, Kai Lehmberg, Stephan Ehl
Journal: Blood
Blood (2025) 145 (25): 2992–3006.
https://doi.org/10.1182/blood.2024027954
Published: 2025
Includes: Supplemental data
Journal Articles

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

Free
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
Journal: Blood
Blood (2024) 144 (Supplement 1): 1084.
https://doi.org/10.1182/blood-2024-210280
Published: 2024
Journal Articles

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

Free
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
Journal: Blood
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

Free
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

Free
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

Dissecting the Knowns for the Unknowns: Refining the Classification of Genomic Variations in Hematological Diseases By the Clingen Hematological Cancer Taskforce (HCT)

Free
Yuwen Li, Jason Saliba, Nathan Kopp, Coumarane Mani, Heather E Williams, Wenying Zhang, Jianhua Zhao, Kilannin Krysiak, Arpad Danos, Xiangqiang Shao, Rong He, Panieh Terraf, Nikita N Mehta, Shivani Golem, Jie Liu, Destiney Allen, Chimene Kesserwan, Hagop Kantarjian, Torsten Haferlach, Piers Blombery, Madhu M Ouseph, Ella Thompson, Yiming Zhong, Xiaonan Zhao, Yasmina Jaufeerally Fakim, Sheeja T Pullarkat, Obi L. Griffith, Malachi Griffith, Rashmi Kanagal-Shamanna, Xinjie Xu
Journal: Blood
Blood (2022) 140 (Supplement 1): 11810–11811.
https://doi.org/10.1182/blood-2022-170989
Published: 2022
Journal Articles

Expert Curation of Somatic FLT3 Variants By the Clingen Somatic Hematologic Cancer Taskforce (ClinGen HCT)

Free
Xiangqiang Shao, Shruti Rao, Coumarane Mani, Jason Saliba, Rong He, Chimene Kesserwan, Arpad Danos, Lana Sheta, Panieh Terraf, Gordana Raca, Heather Williams, Piers Blombery, David S Viswanatha, Celeste Eno, Nan Jiang, Kevin C Vavra, Liying Zhang, Zonggao Shi, Peng Li, Yuwen Li, Madhu Michael Ouseph, Ella R Thompson, Yiming Zhong, Kilannin Krysiak, Alex Wagner, Matthew McCoy, Mariam T Matthew, Kristin Deeb, Fengli Zhang, Jie Liu, Xiaonan Zhao, Alejandro Ferrer, Nathan Kopp, Wenying Zhang, Santhi Pondugula, Yasmina Jaufeerally Fakim, David Wu, Sheeja T Pullarkat, Shashikant Kulkarni, Subha Madhavan, Obi L. Griffith, Malachi Griffith, Rashmi Kanagal-Shamanna, Xinjie Xu
Journal: Blood
Blood (2021) 138 (Supplement 1): 4387.
https://doi.org/10.1182/blood-2021-153546
Published: 2021
Journal Articles

Optimized tandem CD19/CD20 CAR-engineered T cells in refractory/relapsed B-cell lymphoma

Free
Clinical Trials & Observations
Chuan Tong, Yajing Zhang, Yang Liu, Xingyu Ji, Wenying Zhang, Yelei Guo, Xiao Han, Dongdong Ti, Hanren Dai, Chunmeng Wang, Qingming Yang, Wanli Liu, Yao Wang, Zhiqiang Wu, Weidong Han
Journal: Blood
Blood (2020) 136 (14): 1632–1644.
https://doi.org/10.1182/blood.2020005278
Published: 2020
Includes: Supplemental data
Journal Articles

Efficacy and Safety of PD-1 Inhibitor Plus GVD Chemotherapy in Patients with Relapsed/Refractory Primary Mediastinal Large B-Cell Lymphoma (rrPMLBCL)

Free
Qian Mei, PhD, Wenying Zhang, MD, Yang Liu, MD, Qingming Yang, MD, John E.J. Rasko, MBBS, PhD, Weidong Han, PhD MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 4072.
https://doi.org/10.1182/blood-2019-121768
Published: 2019
Journal Articles

Congenital Dyserythropoietic Anemia Type I Due to Biallelic CDAN1 mutations: Report from the Congenital Dyserythropoietic Anemia Registry (CDAR)

Free
Omar Niss, MD, Robert B. Lorsbach, MD PhD, David K. Buchbinder, MD MSHS, Satheesh Chonat, MD, Morgan L. McLemore, MD, Timothy McCavit, MD, Jeffrey H Schwartz, MD, Jessica Meznarich, MD, Katie Seu, Wenying Zhang, MD PhD, Theodosia A. Kalfa, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3521.
https://doi.org/10.1182/blood-2019-128975
Published: 2019
Journal Articles

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

Free
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

Free
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

Evaluation of Phenotype-Genotype Correlation in Two Common PIEZO1 Mutations p.R2456H and p.L2495_E2495dup

Free
Mary Risinger, PhD, Vandy Black, MDMSc, Loan Hsieh, MD, Renee C. Prins, MD, Jill Menell, MD, Mohamad Badawi, MD, Cynthia Rutherford, MD, Karen L. Bride, MD PhD, Omar Niss, MD, Charles T. Quinn, MD, Katie Giger Seu, PhD, Wenying Zhang, MDPhD, Theodosia A. Kalfa, MD PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 1040.
https://doi.org/10.1182/blood-2018-99-117299
Published: 2018