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Amy P. Hsu · SciRah

Researcher profile · Semantic Scholar

Amy P. Hsu

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Amy P. Hsu — researcher profile on SciRah

h-index: 50
Works: 194
Citations: 11K

Most-cited papers

Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Elise M. N. Ferré, S. R. Rose, S. Rosenzweig, P. Burbelo +40 more
2016JCI Insight257 citations Open access
Semantic Scholar
Extrapulmonary Aspergillus infection in patients with CARD9 deficiency.
N. Rieber, R. Gazendam, A. Freeman, Amy P. Hsu +25 more
2016JCI Insight160 citations Open access
Semantic Scholar
Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.
H. Hashem, Ashish R. Kumar, I. Müller, F. Babor +17 more
2017Blood155 citations Open access
Semantic Scholar
Dominant‐negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency
D. Boutboul, H. Kuehn, Z. van de Wyngaert, Julie E. Niemela +30 more
2018Journal of Clinical Investigation144 citations Open access
Semantic Scholar
PHAGOCYTES , GRANULOCYTES , AND MYELOPOIESIS Cytoskeletal abnormalities and neutrophil dysfunction in WDR 1 de fi ciency
D. Kuhns, D. Fink, Uimook Choi, Colin L. Sweeney +23 more
2016103 citations
Semantic Scholar
Pediatric CNS-isolated hemophagocytic lymphohistiocytosis
L. Benson, Ho-Jun Li, L. Henderson, I. Solomon +16 more
2019Neurology: Neuroimmunology & Neuroinflammation79 citations Open access
Semantic Scholar
Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects.
Amy P. Hsu, Ágnes P. Donkó, M. E. Arrington, M. Swamydas +20 more
2019Blood69 citations Open access
Semantic Scholar
Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance
Elise M. N. Ferré, Timothy J. Break, P. Burbelo, M. Allgäuer +33 more
2019Science Translational Medicine67 citations Open access
Semantic Scholar
Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells.
H. Schlums, Moonjung Jung, Hongya Han, J. Theorell +17 more
2017Blood67 citations Open access
Semantic Scholar
Association of GATA2 Deficiency With Severe Primary Epstein-Barr Virus (EBV) Infection and EBV-associated Cancers.
Jeffrey I. Cohen, L. Dropulic, Amy P. Hsu, Christa S. Zerbe +10 more
2016Clinical Infectious Diseases66 citations Open access
Semantic Scholar
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.
Christa S. Zerbe, Beatriz E. Marciano, R. Katial, Carah B. Santos +15 more
2016Clinical Infectious Diseases65 citations Open access
Semantic Scholar
Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
H. Hashem, G. Bucciol, S. Ozen, S. Unal +47 more
2021Journal of Clinical Immunology63 citations Open access
Semantic Scholar
STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation
O. Zimmerman, P. Olbrich, A. Freeman, Lindsey B. Rosen +10 more
2019Frontiers in Immunology63 citations Open access
Semantic Scholar
Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease
O. Zimmerman, B. Rösler, Christa S. Zerbe, Lindsey B. Rosen +13 more
2017Open Forum Infectious Diseases62 citations Open access
Semantic Scholar
Clinical Exome Sequencing of 1000 Families with Complex Immune Phenotypes: Towards comprehensive genomic evaluations
Morgan N. Similuk, Jia-shun Yan, R. Ghosh, Andrew J. Oler +98 more
2022Journal of Allergy and Clinical Immunology58 citations Open access
Semantic Scholar
Donor-derived MDS/AML in families with germline GATA2 mutation.
P. Galera, Amy P. Hsu, Weixin Wang, S. Droll +11 more
2018Blood57 citations Open access
Semantic Scholar
Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome
M. Arora, P. Bagi, A. Strongin, J. Heimall +11 more
2017Journal of Clinical Immunology55 citations Open access
Semantic Scholar
Immunogenetics associated with severe coccidioidomycosis
Amy P. Hsu, Agnieszka Korzeniowska, Cynthia C. Aguilar, Jingwen Gu +36 more
2022JCI Insight52 citations Open access
Semantic Scholar
ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome
R. West, K. Calvo, L. Embree, Weixin Wang +8 more
2021Blood Advances46 citations Open access
Semantic Scholar
A review of innate and adaptive immunity to coccidioidomycosis.
Chiung-Yu Hung, Amy P. Hsu, S. Holland, J. Fierer
2019Medical Mycology45 citations Open access
Semantic Scholar
Adenosine deaminase type 2 deficiency (ADA2) masquerading as GATA2 deficiency: successful hematopoietic stem cell transplantation
Amy P. Hsu, R. West, K. Calvo, J. Cuellar-Rodríguez +6 more
2016Journal of Allergy and Clinical Immunology45 citations Open access
Semantic Scholar
Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms
Jack Chovanec, I. Tunc, J. Hughes, Joseph Halstead +41 more
2022medRxiv44 citations Open access
Semantic Scholar
Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).
D. Roos, K. van Leeuwen, Amy P. Hsu, Debra L. Priel +32 more
2021Blood Cells, Molecules & Diseases44 citations Open access
Semantic Scholar
MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations
L. McReynolds, Yan-Qin Yang, H. Wong, Jing-Rong Tang +16 more
2018Leukemia research : a Forum for Studies on Leukemia and Normal Hemopoiesis44 citations Open access
Semantic Scholar
Pulmonary Manifestations of GATA2 Deficiency.
Beatriz E. Marciano, K. Olivier, L. Folio, Christa S. Zerbe +10 more
2021Chest43 citations Open access
Semantic Scholar
Constructing and deconstructing GATA2-regulated cell fate programs to establish developmental trajectories
Kirby D. Johnson, Daniel J Conn, Evgenia Shishkova, Koichi R. Katsumura +11 more
2020Journal of Experimental Medicine39 citations Open access
Semantic Scholar
MPEG1/perforin-2 mutations in human pulmonary nontuberculous mycobacterial infections.
Ryan M. McCormack, E. P. Szymanski, Amy P. Hsu, E. Pérez +5 more
2017JCI Insight38 citations Open access
Semantic Scholar
Complete Myeloperoxidase Deficiency: Beware the "False-Positive" Dihydrorhodamine Oxidation.
K. Milligan, Daphne Mann, Amy Rump, V. Anderson +4 more
2016Jornal de Pediatria37 citations
Semantic Scholar
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41
Claire C. Homan, M. Drazer, Kai Yu, D. Lawrence +61 more
2023Blood Advances36 citations Open access
Semantic Scholar
Prospective study of a novel, radiation-free, reduced-intensity bone marrow transplantation platform for primary immunodeficiency diseases
D. Dimitrova, J. Gea-Banacloche, S. Steinberg, J. Sadler +30 more
2019Biology of Blood and Marrow Transplantation36 citations Open access
Semantic Scholar
Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype
Younglang Lee, Alex W. Wessel, Jiazhi Xu, J. Reinke +19 more
2022Journal of Clinical Investigation35 citations Open access
Semantic Scholar
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).
D. Roos, K. van Leeuwen, Amy P. Hsu, Debra L. Priel +32 more
2021Blood Cells, Molecules & Diseases34 citations Open access
Semantic Scholar
GATA2 deficiency and human hematopoietic development modeled using induced pluripotent stem cells.
Moonjung Jung, Stefan Cordes, J. Zou, S. Yu +13 more
2018Blood Advances33 citations Open access
Semantic Scholar
Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.
Zhi-Jie Wu, Shou-Guo Gao, Carrie E. Diamond, S. Kajigaya +8 more
2020Blood Advances30 citations Open access
Semantic Scholar
Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections.
S. Sharapova, E. Haapaniemi, I. Sakovich, L. Kostyuchenko +11 more
2019Clinical Immunology29 citations
Semantic Scholar
Distinct mutations at the same positions of STAT3 cause either Loss or Gain of Function
Prabha Chandrasekaran, O. Zimmerman, M. Paulson, E. Sampaio +6 more
2016Journal of Allergy and Clinical Immunology29 citations Open access
Semantic Scholar
Treatment of Relapsing HPV Diseases by Restored Function of Natural Killer Cells
A. Lisco, Amy P. Hsu, D. Dimitrova, Diana M Proctor +21 more
2021New England Journal of Medicine28 citations Open access
Semantic Scholar
GM-CSF therapy in human caspase recruitment domain-containing protein 9 deficiency.
Rebecca A. Drummond, F. Zahra, Mukil Natarajan, M. Swamydas +7 more
2018Journal of Allergy and Clinical Immunology28 citations Open access
Semantic Scholar
Donor Source and Post-Transplantation Cyclophosphamide Influence Outcome in Allogeneic Stem Cell Transplantation for GATA2 Deficiency
D. Nichols-Vinueza, M. Parta, N. Shah, J. Cuellar-Rodríguez +8 more
2021British Journal of Haematology27 citations Open access
Semantic Scholar
Aspergillosis, eosinophilic esophagitis, and allergic rhinitis in signal transducer and activator of transcription 3 haploinsufficiency.
Mukil Natarajan, Amy P. Hsu, M. Weinreich, Yuan Zhang +17 more
2018Journal of Allergy and Clinical Immunology26 citations Open access
Semantic Scholar
Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis
Rebecca A. Drummond, Jigar V. Desai, Amy P. Hsu, Vasileios Oikonomou +55 more
2022Journal of Clinical Investigation25 citations Open access
Semantic Scholar
NCF1 (p47phox)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis.
D. Kuhns, Amy P. Hsu, David Sun, K. Lau +12 more
2019Blood Advances25 citations Open access
Semantic Scholar
Impaired angiogenesis and extracellular matrix metabolism in Autosomal-Dominant Hyper-IgE Syndrome.
N. Dmitrieva, A. Walts, D. Nguyen, A. Grubb +23 more
2020Journal of Clinical Investigation23 citations Open access
Semantic Scholar
NOVEL STAT1 MUTATION DISRUPTS SMALL UBIQUITIN-RELATED MODIFIER (SUMO) CONJUGATION CAUSING GAIN OF FUNCTION
E. Sampaio, L. Ding, S. R. Rose, Phillip Cruz +10 more
2017Journal of Allergy and Clinical Immunology23 citations Open access
Semantic Scholar
Clinical and functional spectrum of RAC2-related immunodeficiency.
Ágnes P. Donkó, S. Sharapova, Juraj Kabat, Sundar Ganesan +42 more
2024Blood22 citations Open access
Semantic Scholar
A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency
A. Amarnani, Katlin R. Poladian, Beatriz E. Marciano, Janine R. Daub +8 more
2020Scientific Reports22 citations Open access
Semantic Scholar
Genetic and Other Determinants for the Severity of Coccidioidomycosis: A Clinician’s Perspective
J. Galgiani, Amy P. Hsu, D. Powell, J. Vyas +1 more
2023Journal of Fungi20 citations Open access
Semantic Scholar
Anti–Interleukin-23 Autoantibodies in Adult-Onset Immunodeficiency
Aristine Cheng, Anuj K. Kashyap, Hélène Salvator, Lindsey B. Rosen +18 more
2024New England Journal of Medicine18 citations Open access
Semantic Scholar
GATA-2-deficient mast cells limit IgE-mediated immediate hypersensitivity reactions in human subjects.
Avanti N. Desai, K. Sowerwine, Yihui Liu, M. Lawrence +21 more
2019Journal of Allergy and Clinical Immunology18 citations Open access
Semantic Scholar
Association of Unbalanced Translocation der(1;7) with Germline GATA2 Mutations.
E. Kozyra, G. Göhring, D. Hickstein, K. Calvo +43 more
2021Blood17 citations Open access
Semantic Scholar

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