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Journal Articles

A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins

Robert R. West, Thomas R. Bauer, Jr., Laura M. Tuschong, Lisa J. Embree, Katherine R. Calvo, Desiree Tillo, Joie Davis, Steven M. Holland, Dennis D. Hickstein
Journal: Blood Advances
Blood Adv (2023) 7 (20): 6351–6363.
https://doi.org/10.1182/bloodadvances.2023010458
Published: 2023
Includes: Supplemental data
Journal Articles

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1 , GATA2 , and DDX41

Claire C. Homan, Michael W. Drazer, Kai Yu, David M. Lawrence, Jinghua Feng, Luis Arriola-Martinez, Matthew J. Pozsgai, Kelsey E. McNeely, Thuong Ha, Parvathy Venugopal, Peer Arts, Sarah L. King-Smith, Jesse Cheah, Mark Armstrong, Paul Wang, Csaba Bödör, Alan B. Cantor, Mario Cazzola, Erin Degelman, Courtney D. DiNardo, Nicolas Duployez, Remi Favier, Stefan Fröhling, Ana Rio-Machin, Jeffery M. Klco, Alwin Krämer, Mineo Kurokawa, Joanne Lee, Luca Malcovati, Neil V. Morgan, Georges Natsoulis, Carolyn Owen, Keyur P. Patel, Claude Preudhomme, Hana Raslova, Hugh Rienhoff, Tim Ripperger, Rachael Schulte, Kiran Tawana, Elvira Velloso, Benedict Yan, Erika Kim, Raman Sood, Amy P. Hsu, Steven M. Holland, Kerry Phillips, Nicola K. Poplawski, Milena Babic, Andrew H. Wei, Cecily Forsyth, Helen Mar Fan, Ian D. Lewis, Julian Cooney, Rachel Susman, Lucy C. Fox, Piers Blombery, Deepak Singhal, Devendra Hiwase, Belinda Phipson, Andreas W. Schreiber, Christopher N. Hahn, Hamish S. Scott, Paul Liu, Lucy A. Godley, Anna L. Brown
Journal: Blood Advances
Blood Adv (2023) 7 (20): 6092–6107.
https://doi.org/10.1182/bloodadvances.2023010045
Published: 2023
Includes: Supplemental data
Journal Articles

IFNγ regulates NAD + metabolism to promote the respiratory burst in human monocytes

Katelyn J. McCann, Stephen M. Christensen, Devon H. Colby, Peter J. McGuire, Ian A. Myles, Christa S. Zerbe, Clifton L. Dalgard, Gauthaman Sukumar, Warren J. Leonard, Beth A. McCormick, Steven M. Holland
Journal: Blood Advances
Blood Adv (2022) 6 (12): 3821–3834.
https://doi.org/10.1182/bloodadvances.2021005776
Published: 2022
Includes: Supplemental data
Journal Articles

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome

Clinical Trials & Observations
Robert R. West, Katherine R. Calvo, Lisa J. Embree, Weixin Wang, Laura M. Tuschong, Thomas R. Bauer, Jr, Desiree Tillo, Justin Lack, Stephenie Droll, Amy P. Hsu, Steven M. Holland, Dennis D. Hickstein
Journal: Blood Advances
Blood Adv (2022) 6 (3): 793–807.
https://doi.org/10.1182/bloodadvances.2021005065
Published: 2022
Includes: Supplemental data
Journal Articles

Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency

Zhijie Wu, Shouguo Gao, Carrie Diamond, Sachiko Kajigaya, Jinguo Chen, Rongye Shi, Cindy Palmer, Amy P. Hsu, Katherine R. Calvo, Dennis D. Hickstein, Steven M. Holland, Neal S. Young
Journal: Blood Advances
Blood Adv (2020) 4 (12): 2702–2716.
https://doi.org/10.1182/bloodadvances.2019001352
Published: 2020
Includes: Supplemental data
Journal Articles

Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia

Marita Bosticardo, Francesca Pala, Enrica Calzoni, Ottavia M. Delmonte, Kerry Dobbs, Cameron L. Gardner, Nicolo’ Sacchetti, Tomoki Kawai, Elizabeth K. Garabedian, Debbie Draper, Jenna R. E. Bergerson, Suk See DeRavin, Alexandra F. Freeman, Tayfun Güngör, Nicholas Hartog, Steven M. Holland, Donald B. Kohn, Harry L. Malech, Mary Louise Markert, Katja G. Weinacht, Anna Villa, Christopher S. Seet, Amelie Montel-Hagen, Gay M. Crooks, Luigi D. Notarangelo
Journal: Blood Advances
Blood Adv (2020) 4 (12): 2611–2616.
https://doi.org/10.1182/bloodadvances.2020001730
Published: 2020
Includes: Supplemental data
Journal Articles

NCF1 (p47 phox )–deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis

Douglas B. Kuhns, Amy P. Hsu, David Sun, Karen Lau, Danielle Fink, Paul Griffith, Da Wei Huang, Debra A. Long Priel, Laura Mendez, Samantha Kreuzburg, Christa S. Zerbe, Suk See De Ravin, Harry L. Malech, Steven M. Holland, Xiaolin Wu, John I. Gallin
Journal: Blood Advances
Blood Adv (2019) 3 (2): 136–147.
https://doi.org/10.1182/bloodadvances.2018023184
Published: 2019
Includes: Supplemental data
Journal Articles

GATA2 deficiency and human hematopoietic development modeled using induced pluripotent stem cells

Moonjung Jung, Stefan Cordes, Jizhong Zou, Shiqin J. Yu, Xavi Guitart, So Gun Hong, Vinh Dang, Elaine Kang, Flavia S. Donaires, Sergio A. Hassan, Maher Albitar, Amy P. Hsu, Steven M. Holland, Dennis D. Hickstein, Danielle Townsley, Cynthia E. Dunbar, Thomas Winkler
Journal: Blood Advances
Blood Adv (2018) 2 (23): 3553–3565.
https://doi.org/10.1182/bloodadvances.2018017137
Published: 2018
Includes: Supplemental data
Journal Articles

Somatic mutations in children with GATA2 -associated myelodysplastic syndrome who lack other features of GATA2 deficiency

Kevin E. Fisher, Amy P. Hsu, Christopher L. Williams, Hadi Sayeed, Brian Y. Merritt, M. Tarek Elghetany, Steven M. Holland, Alison A. Bertuch, Maria Monica Gramatges
Journal: Blood Advances
Blood Adv (2017) 1 (7): 443–448.
https://doi.org/10.1182/bloodadvances.2016002311
Published: 2017
Includes: Supplemental data