Rosenzweig, Sergio D.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J.-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., et al. (2019) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

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NADPH oxidase controls phagosomal pH and antigen cross-presentation in human dendritic cells

Mantegazza, A. R., Savina, A., Vermeulen, M., Pérez, L., Geffner, J., Hermine, O., Rosenzweig, S. D., Faure, F., & Amigorena, S. (2008) · Blood

Neutrophil, Myeloperoxidase and Oxidative MechanismsImmunotherapy and Immune Responses

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Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

Boutboul, D., Kuehn, H. S., Van de Wyngaert, Z., Niemela, J. E., Callebaut, I., Stoddard, J., Lenoir, C., Barlogis, V., Farnarier, C., Vely, F., et al. (2018) · Journal of Clinical Investigation

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

Cited by 169

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Sharma, M., Leung, D., Momenilandi, M., Jones, L. C. W., Pacillo, L., James, A. E., Murrell, J. R., Delafontaine, S., Maimaris, J., Vaseghi-Shanjani, M., et al. (2023) · Journal of Experimental Medicine

Immunodeficiency and Autoimmune DisordersAsthma and respiratory diseases

Cited by 125

Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

Papendorf, J. J., Ebstein, F., Alehashemi, S., Piotto, D. G. P., Kozlova, A., Terreri, M. T., Shcherbina, A., Rastegar, A., Rodrigues, M., Pereira, R., et al. (2023) · Frontiers in Immunology

Inflammasome and immune disordersImmunodeficiency and Autoimmune Disorders

Cited by 38