Author

J. R. Lupski

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

Biology Disciplines

Click to filter author papers

Immunology· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:development & morphogenesis· 2 Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell signaling & trafficking· 1 Research Focus:cell type annotation· 1 Research Focus:chromatin & epigenetic regulation· 1 Assay:clinical cohort / trial· 1 Approach:genetic perturbation / CRISPR· 1

Frequent Co-Authors

D. M. Muzny· 2 shared I. K. Chinn· 2 shared R. A. Gibbs· 2 shared S. N. Jhangiani· 2 shared A. Bielinsky· 1 shared A. E. Pezzi· 1 shared A. F. Carisey· 1 shared A. G. Heaps· 1 shared

Activity by Year

2019-2019 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersImmunology

D. M. Muzny

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Human NK cell deficiency as a result of biallelic mutations in MCM10

E. Mace, S. Paust, M. I. Conte, R. M. Baxley, M. Schmit, N. C. Guilz, M. Mukherjee, A. E. Pezzi, J. Chmielowiec, S. Tatineni, I. K. Chinn, Z. C. Akdemir, S. N. Jhangiani, D. M. Muzny, A. Stray-Pedersen, , J. Orange

This study identifies biallelic MCM10 mutations as a cause of human NK cell deficiency, showing impaired NK cell maturation and function in a patient with CMV susceptibility.

bioRxiv · Nov 7, 2019Immunology

Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

W. A. Comrie, M. C. Poli, S. A. Cook, M. Similuk, A. Oler, A. J. Faruqi, D. B. Kuhns, S. Yang, A. F. Carisey, B. Fournier, D. E. Anderson, S. Price, W. A. Chahla, A. Vargas-Hernandez, L. R. Forbes, , M. J. Lenardo

Hem1 loss-of-function mutations cause congenital immunodysregulation by disrupting WAVE2 and mTORC2 complexes, leading to immunodeficiency and immune hyperresponsiveness.

bioRxiv · Jul 4, 2019 · PreprintImmunology