Author

C. N. Gruber

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Immunology· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:genome assembly· 1 Research Focus:host-pathogen & immune response· 1 Assay:scRNA-seq· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

D. Bogunovic· 2 shared S. Buta· 2 shared A. Bousfiha· 1 shared B. D. Webb· 1 shared B. Gelb· 1 shared B. R. Rosenberg· 1 shared D. Dunkin· 1 shared E. M. Mace· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersImmunology

D. Bogunovic

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2 papers

Recent·Most cited

ImmunologyImmunityPeer-reviewedSep 1, 2020

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Transcriptional and Biochemical Function

C. N. Gruber, J. Calis, S. Buta…·D. Bogunovic

This study identifies a JAK1 mutation causing autoinflammation and shows its unique transcriptional and functional effects through single-cell analysis and clinical treatment.

DOI 10.1016/j.immuni.2020.07.006

humanscRNA-seq

𝕏 PostBluesky

ImmunologybioRxivDec 12, 2019

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

C. N. Gruber, M. Martin-Fernandez, F. Ailal…·D. Bogunovic

The paper identifies a homozygous STAT2 mutation causing type I interferonopathy by disrupting USP18 interaction and signal termination.

DOI 10.1084/jem.20192319

humanexperimental assay

𝕏 PostBluesky