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

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
Journal: Blood
Blood (2023) 142 (Supplement 1): 1079.
https://doi.org/10.1182/blood-2023-189389
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

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

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)

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

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

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

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

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

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

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

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

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

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