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Joyce Villanueva
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Journal Articles

Accuracy of flow cytometric perforin screening for detecting patients with FHL due to PRF1 mutations

Clinical Trials & Observations
Manar Abdalgani, Alexandra H. Filipovich, Sharon Choo, Kejian Zhang, Carrie Gifford, Joyce Villanueva, Jack J. Bleesing, Rebecca A. Marsh
Journal: Blood
Blood (2015) 126 (15): 1858–1860.
https://doi.org/10.1182/blood-2015-06-648659
Published: 2015
Includes: Supplemental data
Journal Articles

Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion

Waldo A. Spessott, Maria L. Sanmillan, Margaret E. McCormick, Nishant Patel, Joyce Villanueva, Kejian Zhang, Kim E. Nichols, Claudio G. Giraudo
Journal: Blood
Blood (2015) 125 (10): 1566–1577.
https://doi.org/10.1182/blood-2014-11-610816
Published: 2015
Includes: Supplemental data
Journal Articles

Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis

e-blood
Janos Sumegi, Shawnagay V. Nestheide, Michael G. Barnes, Joyce Villanueva, Kejian Zhang, Alexei A. Grom, Alexandra H. Filipovich
Journal: Blood
Blood (2013) 121 (7): e14–e24.
https://doi.org/10.1182/blood-2012-05-425769
Published: 2013
Includes: Supplemental data
Journal Articles

Hypomorphic mutations in PRF1 , MUNC13-4 , and STXBP2 are associated with adult-onset familial HLH

Clinical Trials & Observations
Kejian Zhang, Michael B. Jordan, Rebecca A. Marsh, Judith A. Johnson, Diane Kissell, Jarek Meller, Joyce Villanueva, Kimberly A. Risma, Qian Wei, Peter S. Klein, Alexandra H. Filipovich
Journal: Blood
Blood (2011) 118 (22): 5794–5798.
https://doi.org/10.1182/blood-2011-07-370148
Published: 2011
Journal Articles

Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis

e-blood
Janos Sumegi, Michael G. Barnes, Shawnagay V. Nestheide, Susan Molleran-Lee, Joyce Villanueva, Kejian Zhang, Kimberly A. Risma, Alexei A. Grom, Alexandra H. Filipovich
Journal: Blood
Blood (2011) 117 (15): e151–e160.
https://doi.org/10.1182/blood-2010-08-300046
Published: 2011
Includes: Supplemental data
Journal Articles

Perforin Polymorphism A91V and Susceptibility to Childhood Acute Lymphoblastic Leukemia (ALL).

Parinda A. Mehta, MD, Stella M. Davies, MBBS, Ashish Kumar, MD, Meenakshi Devidas, PhD, Susan Lee, BS, Tiffany Wilke, BS, James Elliott, BS, MBA, Joyce Villanueva, BS, Jeanette Pullen, MD, Yetnayet Zewge, Alexandra H. Filipovich, MD
Journal: Blood
Blood (2005) 106 (11): 1453.
https://doi.org/10.1182/blood.V106.11.1453.1453
Published: 2005
Journal Articles

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members

Clinical Trials & Observations
Yasuhiro Tabata, Joyce Villanueva, Susan Molleran Lee, Kejian Zhang, Hirokazu Kanegane, Toshio Miyawaki, Janos Sumegi, Alexandra H. Filipovich
Journal: Blood
Blood (2005) 105 (8): 3066–3071.
https://doi.org/10.1182/blood-2004-09-3651
Published: 2005
Journal Articles

Rapid Detection of SAP Deficiency in Cytotoxic Lymphocytes from Patients with X-Linked Lymphoproliferative Disease and Their Family Members.

Yasuhiro Tabata, MD, Joyce Villanueva, BS, Susan M. Lee, BS, Kejian Zhang, MD, Hirokazu Kanegane, MD, Toshio Miyawaki, MD, Janos Sumegi, MD, Alexandra H. Filipovich, MD
Journal: Blood
Blood (2004) 104 (11): 3846.
https://doi.org/10.1182/blood.V104.11.3846.3846
Published: 2004
Journal Articles

Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members

Clinical Trials & Observations
Kazuhiro Kogawa, Susan M. Lee, Joyce Villanueva, Daniel Marmer, Janos Sumegi, Alexandra H. Filipovich
Journal: Blood
Blood (2002) 99 (1): 61–66.
https://doi.org/10.1182/blood.V99.1.61
Published: 2002