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Journal Articles

Efficacy Findings in a Phase 3, Randomized Trial of Eltrombopag Vs. Standard First-Line Treatment for Newly Diagnosed Immune Thrombocytopenia in Children

Kristin A. Shimano, Amanda B. Grimes, Melissa J Rose, Shipra Kaicker, Sanjay J. Shah, Michael Briones, Elizabeth Gunn, Taizo A. Nakano, Jeffrey D Lebensburger, Michele P. Lambert, Stephanie A. Fritch Lilla, Rohith Jesudas, Cathy A. Lee-Miller, Alexis Thompson, Rukhmi Bhat, Stacey Rifkin-Zenenberg, Suvankar Majumdar, Manpreet Kochhar, Shelley E Crary, Kerry Hege, Jennifer A. Rothman, James B. Ford, Joshua J Bies, John Fort, Loan Hsieh, Maritza E. Ruiz, Kathryn M. Carrier, Bogdan Dinu, Julia MW Wong, Pei-Chi Kao, Wendy B. London, Staci D. Arnold, Carolyn M. Bennett, Jenny Despotovic, Robert J. Klaassen, Ellis J. Neufeld, Cindy E Neunert, Rachael F. Grace
Journal: Blood
Blood (2024) 144 (Supplement 1): 709.
https://doi.org/10.1182/blood-2024-193644
Published: 2024
Journal Articles

Pediatric Autoimmune Hemolytic Anemia Is Associated with a High Incidence of an Underlying Immune Disorder and High Mortality Rate

Rachael F Grace, MacGregor Steele, Tatiana Kalashnikova, Ellis Bloom, Aila Khan, Sherif M. Badawy, Hannah Elkus, Vicky R. Breakey, Sureka Pavalagantharajah, Stephanie A. Fritch Lilla, John Leister, Manpreet Kochhar, Kirsty Hillier, Lia Phillips, Jessica Chumsky, Robert J. Klaassen, Dana Ghanem, Danielle Charland, Taizo A. Nakano, Joshua Kalter, Allison Remiker, Jennifer A. Rothman, Caitlyn McComb, Brian Guedes, Sanjay J. Shah, Cassandra J. Everly, Kristin A. Shimano, Alison Matsunaga, Gerald C Tiu, Russell P Valle, Shilpa Nataraj, Stacey Rifkin-Zenenberg, Erika Tavares, Caitlin Montcrieff, Emily M Harris, Nan Chen, Wendy B. London, Michele P. Lambert
Journal: Blood
Blood (2024) 144 (Supplement 1): 795.
https://doi.org/10.1182/blood-2024-207419
Published: 2024
Journal Articles

Patient and Parent-Reported Outcomes Post-Treatment with Shmir-Based Lentiviral Gene Therapy for Sickle Cell Disease

Lauren Jimenez-Kurlander, Pei-Chi Kao, Mira Magner, Emily Morris, Amy Federico, Theodore Moore, Satiro DeOliveira, Augustine Fernandes, Donald B. Kohn, Wendy B. London, David A. Williams, Erica B. Esrick
Journal: Blood
Blood (2023) 142 (Supplement 1): 3750.
https://doi.org/10.1182/blood-2023-186915
Published: 2023
Journal Articles

A Phase 3 Study of Eltrombopag Vs. Standard First-Line Management for Newly Diagnosed Immune Thrombocytopenia in Children: Trial in Progress Update

Amanda B. Grimes, Rachael F. Grace, Melissa J. Rose, Sanjay J. Shah, Shipra Kaicker, Carolyn Bennett, Michael Briones, Taizo A. Nakano, Stephanie A. Fritch Lilla, Jeffrey D. Lebensburger, Alexis A. Thompson, Rukhmi Bhat, Rohith Jesudas, Michele P. Lambert, Shelley E. Crary, Kerry Hege, Cathy A. Lee-Miller, Suvankar Majumdar, James B. Ford, Joshua J. Bies, Vandy Black, John Fort, Manpreet Kochhar, Julia MW Wong, Bogdan Dinu, Pei-Chi Kao, Wendy B. London, Jenny M. Despotovic, Robert J. Klaassen, Ellis J. Neufeld, Cindy Neunert, Kristin A. Shimano
Journal: Blood
Blood (2023) 142 (Supplement 1): 1223.
https://doi.org/10.1182/blood-2023-172819
Published: 2023
Journal Articles

Venous Thrombo-Embolism Is Rare in Transgender and Gender Non-Binary Adolescents and Youth: A Multicenter Observational Study

Riten Kumar, Charumathi Baskaran, Stephanie Roberts, Nan Chen, Wendy B. London
Journal: Blood
Blood (2023) 142 (Supplement 1): 5531.
https://doi.org/10.1182/blood-2023-189752
Published: 2023
Journal Articles

Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome

Clinical Trials & Observations
Roxane Labrosse, Julia I. Chu, Myriam A. Armant, John K. Everett, Danilo Pellin, Niharika Kareddy, Andrew L. Frelinger, Lauren A. Henderson, Amy E. O’Connell, Amlan Biswas, Jet Coenen-van der Spek, Alexandra Miggelbrink, Claudia Fiorini, Hriju Adhikari, Charles C. Berry, Vito Adrian Cantu, Johnson Fong, Jason Jaroslavsky, Derin F. Karadeniz, Quan-Zhen Li, Shantan Reddy, Aoife M. Roche, Chengsong Zhu, Jennifer S. Whangbo, Colleen Dansereau, Brenda Mackinnon, Emily Morris, Stephanie M. Koo, Wendy B. London, Safa Baris, Ahmet Ozen, Elif Karakoc-Aydiner, Jenny M. Despotovic, Lisa R. Forbes Satter, Akihiko Saitoh, Yuta Aizawa, Alejandra King, Mai Anh Thi Nguyen, Vy Do Uyen Vu, Scott B. Snapper, Anne Galy, Luigi D. Notarangelo, Frederic D. Bushman, David A. Williams, Sung-Yun Pai
Journal: Blood
Blood (2023) 142 (15): 1281–1296.
https://doi.org/10.1182/blood.2022019117
Published: 2023
Includes: Supplemental data
Journal Articles

Long-Term Outcome of Gene Therapy for X-Linked Severe Combined Immunodeficiency (SCID-X1) Using an Enhancer-Deleted Self-Inactivating Gammaretroviral Vector

Sung-Yun Pai, Nisha Nagarsheth, Susan Prockop, Myriam Armant, Donald B. Kohn, Rebecca A. Marsh, Claire Booth, John K. Everett, Jack Bleesing, Deepak Chellapandian, Colleen Dansereau, Satiro de Oliveira, Wendy B. London, M. Angélica Marinovic, Theodore B. Moore, Matias Oleastro, Grainne O'Toole, Mark Vander Lugt, Luciano Urdinez, Kelly J. Walkovich, Jolan E. Walter, Axel Schambach, Adrian J. Thrasher, Frederic D. Bushman, David A Williams
Journal: Blood
Blood (2022) 140 (Supplement 1): 10643–10645.
https://doi.org/10.1182/blood-2022-159768
Published: 2022
Journal Articles

COVID-19 Is Associated with an Increased Risk of Venous Thromboembolism, but Not Arterial Ischemic Stroke in Hospitalized Children: A Multicenter Observational Study

Riten Kumar, Nan Chen, Laura Lehman, Wendy B. London
Journal: Blood
Blood (2022) 140 (Supplement 1): 329–330.
https://doi.org/10.1182/blood-2022-170316
Published: 2022
Journal Articles

Lentiviral Gene Therapy with Low Dose Conditioning for X-Linked SCID Results in Complete Immune Reconstitution and No Evidence of Clonal Expansion

Claire Booth, Donald B. Kohn, Myriam Armant, Susan Prockop, Karen Buckland, Sharat Chandra, Shanmuganathan Chandrakasan, Kritika Chetty, Colleen Dansereau, Satiro de Oliveira, John Everett, Diego León Rico, Wendy B. London, Jin Hua Xu-Bayford, Theodore B. Moore, Nisha Nagarsheth, Suhag Parikh, Dayna Terrazas, Shanna L White, Axel Schambach, Frederic D. Bushman, Adrian J. Thrasher, David A. Williams, Sung-Yun Pai
Journal: Blood
Blood (2022) 140 (Supplement 1): 7770–7771.
https://doi.org/10.1182/blood-2022-159979
Published: 2022
Journal Articles

Induction of Fetal Hemoglobin and Reduction of Clinical Manifestations in Patients with Severe Sickle Cell Disease Treated with Shmir-Based Lentiviral Gene Therapy for Post-Transcriptional Gene Editing of BCL11A: Updated Results from Pilot and Feasibility Trial

Erica B. Esrick, Amy Federico, Daniela Abriss, Myriam Armant, Kari Boardman, Christian Brendel, Marioara-Felicia Ciuculescu, Heather Daley, Colleen Dansereau, Augustine Fernandes, Matthew M. Heeney, David G. Justus, Pei-Chi Kao, Annette S. Kim, Donald B. Kohn, Leslie E. Lehmann, Donghui Liu, Wendy B. London, John P Manis, Theodore B. Moore, Emily Morris, Danilo Pellin, Ellen Proeung, Shanna Richard, Gavin D. Roach, Kit L. Shaw, Dayna Terrazas, Shanna L White, David A. Williams
Journal: Blood
Blood (2022) 140 (Supplement 1): 10665–10667.
https://doi.org/10.1182/blood-2022-169089
Published: 2022
Journal Articles

Pyruvate Kinase (PK) Protein and Enzyme Levels in the Diagnosis and Clinical Phenotype of PK Deficiency

Kathryn Addonizio, BA, Hanny Al-Samkari, MD, Bertil Glader, MD PhD, D Holmes Morton, MD, Satheesh Chonat, MD, Alexis A. Thompson, MD MPH, Kevin H. M. Kuo, MDMSc,FRCPC, Yaddanapudi Ravindranath, MBBS, Heng Wang, MD PhD, Jennifer A. Rothman, MD, Janet L. Kwiatkowski, MD MSCE, Charles Kung, PhD, Penelope A. Kosinski, MS, Hasan Al-Sayegh, MS, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3515.
https://doi.org/10.1182/blood-2019-125248
Published: 2019
Journal Articles

Outcome of Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome

Roxane Labrosse, MD FRCPC, Julia Chu, MD MPH, Myriam Armant, PhD, Jet van der Spek, MD, Alexandra Miggelbrink, MD, Johnson Fong, John K. Everett, PhD, Hayley Raymond, BA, Lyanna Kessler, Colleen Dansereau, MSN, RN, CPN, Brenda Mackinnon, BSN, RN, Stephanie Koo, Emily Morris, Wendy B. London, PhD, Ahmet Ozen, MD, Safa Baris, MD, Jenny M. Despotovic, DO, MS, Lisa Forbes, MD, Akihiko Saitoh, MD, Takayuki Takachi, MD, Alejandra King, MD, Thi Mai Anh Thi Nguyen, MD, Vy Do Uyen Vu, MD, Frederic D. Bushman, PhD, Anne Galy, PharmD, PhD, Luigi Notarangelo, MD, David A Williams, MD, Sung-Yun Pai, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 4629.
https://doi.org/10.1182/blood-2019-126161
Published: 2019
Journal Articles

Longitudinal Changes in the Intestinal Microbiome Composition Following Gut Decontamination in Pediatric Allogeneic Hematopoietic Stem Cell Transplant Patients: A Pilot Study

Christopher Severyn, MD PhD, Wendy B. London, PhD, Paige Kao, MPH, Sophie Silverstein, BS, Michelle Li, BS, Soomin Kim, BA, Kelly Verrill, BSN, Jerome Ritz, MD, Ami S. Bhatt, MD PhD, Jennifer Whangbo, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 5665.
https://doi.org/10.1182/blood-2019-122480
Published: 2019
Journal Articles

A Phase 3 Study of Eltrombopag Vs. Standard First-Line Management for Newly Diagnosed Immune Thrombocytopenia in Children

Kristin A. Shimano, MD, Rachael F. Grace, MD, Carolyn M. Bennett, MDMSc, Robert J Klaassen, MD FRCPC, Cindy Neunert, MD, Ellis J. Neufeld, MD, Clement Ma, PhD, Wendy B. London, PhD, Jenny M. Despotovic, DO, MS
Journal: Blood
Blood (2019) 134 (Supplement_1): 2369.
https://doi.org/10.1182/blood-2019-125487
Published: 2019
Journal Articles

Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency

Hanny Al-Samkari, MD, Eduard J. van Beers, MD PhD, D Holmes Morton, MD, Wilma Barcellini, MD, Stefan W. Eber, MD, Bertil Glader, MD PhD, Hassan M. Yaish, MD, Satheesh Chonat, MD, Kevin H. M. Kuo, MDMSc,FRCPC, Nina Kollmar, MD, Jenny M. Despotovic, DO, MS, Dagmar Pospisilova, Prof MD PhD, Christine M. Knoll, MD, Janet L. Kwiatkowski, MD MSCE, Yves D. Pastore, MD, Alexis A. Thompson, MD MPH, Marcin W. Wlodarski, MD PhD, Yaddanapudi Ravindranath, MBBS, Jennifer A. Rothman, MD, Heng Wang, MD PhD, Suzanne Holzhauer, MD MSc, Vicky R. Breakey, BSc,MDFRCPC, Madeleine M. Verhovsek, MD FRCPC, Joachim B. Kunz, MD, Sujit Sheth, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Heather Bradeen, Melissa A. McNaull, MD, Kathryn Addonizio, BS, Hasan Al-Sayegh, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 949.
https://doi.org/10.1182/blood-2019-125352
Published: 2019
Journal Articles

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency

Matthew M. Heeney, Dongjing Guo, Luigia De Falco, Dean R. Campagna, Gordana Olbina, Paige P.-C. Kao, Klaus Schmitz-Abe, Fedik Rahimov, Patrick Gutschow, Keith Westerman, Vaughn Ostland, Tracy Jackson, Robert J. Klaassen, Kyriacos Markianos, Karin E. Finberg, Achille Iolascon, Mark Westerman, Wendy B. London, Mark D. Fleming
Journal: Blood
Blood (2018) 132 (4): 448–452.
https://doi.org/10.1182/blood-2017-03-773028
Published: 2018
Includes: Supplemental data
Journal Articles

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

Clinical Trials & Observations
Rachael F. Grace, Paola Bianchi, Eduard J. van Beers, Stefan W. Eber, Bertil Glader, Hassan M. Yaish, Jenny M. Despotovic, Jennifer A. Rothman, Mukta Sharma, Melissa M. McNaull, Elisa Fermo, Kimberly Lezon-Geyda, D. Holmes Morton, Ellis J. Neufeld, Satheesh Chonat, Nina Kollmar, Christine M. Knoll, Kevin Kuo, Janet L. Kwiatkowski, Dagmar Pospíšilová, Yves D. Pastore, Alexis A. Thompson, Peter E. Newburger, Yaddanapudi Ravindranath, Winfred C. Wang, Marcin W. Wlodarski, Heng Wang, Susanne Holzhauer, Vicky R. Breakey, Joachim Kunz, Sujit Sheth, Melissa J. Rose, Heather A. Bradeen, Nolan Neu, Dongjing Guo, Hasan Al-Sayegh, Wendy B. London, Patrick G. Gallagher, Alberto Zanella, Wilma Barcellini
Journal: Blood
Blood (2018) 131 (20): 2183–2192.
https://doi.org/10.1182/blood-2017-10-810796
Published: 2018
Includes: Supplemental data
Journal Articles

Genotype-Phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency: Data from the PKD Natural History Study

Paola Bianchi, BSc, PhD, Elisa Fermo, PhD, Kimberly Lezon-Geyda, PhD, Patrick G. Gallagher, MD, Richard van Wijk, PhD, Eduard J. Van Beers, MD, Hassan M. Yaish, MD, Janet L. Kwiatkowski, MD, Peter E. Newburger, MD, Yaddanapudi Ravindranath, MBBS, Oliver Andres, MD, Wilma Barcellini, MD, D. Holmes Morton, MD, Bertil Glader, MD, Stefan W. Eber, MD, Satheesh Chonat, MD, Nina Kollmar, MD, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Kevin H.M. Kuo, MD MSc, FRCPC, Dagmar Pospisilova, Prof. MD PhD, Yves D. Pastore, MD, Alexis A Thompson, MD MPH, Winfred Wang, MD, Marcin W. Wlodarski, MD PhD, Jennifer A. Rothman, MD, Heng Wang, MD PhD, Suzanne Holzhauer, MD MSc, Vicky R. Breakey, BSc,MDFRCPC, Joachim B. Kunz, MD, Sujit Sheth, MD, Mukta Sharma, MD MPH, Melissa J. Rose, DO, Heather A. Bradeen, MD, Melissa N. McNaull, MD, Gabrielle P. Ooyama, Nolan Neu, BS, Hasan Al-Sayegh, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2017) 130 (Supplement 1): 3479.
https://doi.org/10.1182/blood.V130.Suppl_1.3479.3479
Published: 2017
Journal Articles

Iron Overload Is Highly Prevalent in All Disease Severity States in Pyruvate Kinase Deficiency (PKD)

Eduard J van Beers, MD PhD, Wilma Barcellini, Stefan W. Eber, MD, Janet L Kwiatkowski, MD, Jennifer A Rothman, MD, Ellis J Neufeld, MD PhD, Mukta Sharma, MD MPH, D Holmes Morton, MD, Bertil Glader, MD PhD, Nina Kollmar, MD, Hassan M. Yaish, Jenny M. Despotovic, DO, MS, Christine M. Knoll, MD, Yves D. Pastore, MD, Kevin Kuo, BSc, MD, Peter E. Newburger, MD, Marcin W Wlodarski, MD, Alexis A. Thompson, MD MPH, Yaddanapudi Ravindranath, Winfred C. Wang, MD, Heng Wang, MD, Joachim B. Kunz, MD, Vicky R. Breakey, BSc, MD MD FRCPC, Melissa J. Rose, DO, Melissa Rhodes, MD, Heather A Bradeen, MD, Sujit Sheth, MD, Dongjing Guo, MS, Wendy B. London, PhD, Rachael F. Grace, MD
Journal: Blood
Blood (2016) 128 (22): 2430.
https://doi.org/10.1182/blood.V128.22.2430.2430
Published: 2016
Journal Articles

Outcomes of Allogeneic Stem Cell Transplantation in Pediatric Patients with Myelodysplastic Syndrome and Bone Marrow Failure Due to GATA2 Haploinsufficiency: A Case Control Study

Inga Hofmann, MD, Serine Avagyan, MD PhD, Alyssa Stetson, Dongjing Guo, MS, Hasan Al-Sayegh, MBChB, MPH, Wendy B. London, PhD, Leslie Lehmann, MD
Journal: Blood
Blood (2016) 128 (22): 4686.
https://doi.org/10.1182/blood.V128.22.4686.4686
Published: 2016