Author

Nicole C. Guilz

Columbia University Irving Medical CenterORCID 0000-0002-6930-4577Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Research Focus:host-pathogen & immune response· 1 Organism:human· 1 Assay:proteomics· 1

Frequent Co-Authors

Emily Margaret MaceiD· 1 shared Everardo Hegewisch-SolloaiD· 1 shared Ivan Kingyue ChinniD· 1 shared James R. LupskiiD· 1 shared Luis Alberto PedrozaiD· 1 shared Madrikha Daphnee Saturne· 1 shared Matilde Immacolata ConteiD· 1 shared Micah B. CastilloiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperImmunology

Emily Margaret MaceORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system

Nicole C. Guilz, Yong‐Oon Ahn, Seungmae Seo, Madrikha Daphnee Saturne, Matilde Immacolata Conte, Sana R. Shehzad, Everardo Hegewisch-Solloa, Luis Alberto Pedroza, Micah B. Castillo, Preethi H. Gunaratne, Ivan Kingyue Chinn, James R. Lupski, Emily Margaret Mace

The paper identifies a CDC45 variant causing immune disease with allelic bias, linking it to NK cell dysfunction and variable expressivity in a family.

bioRxiv · Mar 6, 2026 · PreprintImmunology