Author

E. Della Mina

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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Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell-cell communication· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Approach:statistical model· 1

Frequent Co-Authors

A. Dhir· 1 shared A. Guerin· 1 shared A. Lepelley· 1 shared B. Bader-Meunier· 1 shared B. Bigio· 1 shared B. Callewaert· 1 shared C. Bodemer· 1 shared C. Deswarte· 1 shared

Activity by Year

2017-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperImmunology

A. Dhir

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Author profile →

2 papers

Recent·Most cited

Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

A. Lepelley, E. Della Mina, E. Van Nieuwenhove, L. Waumans, S. Fraitag, G. I. Rice, A. Dhir, M.-L. Fremond, M. P. Rodero, L. Seabra, E. Carter, C. Bodemer, D. Buhas, B. Callewaert, P. de Lonlay, , Y. J. Crow

The paper identifies mutations in ATAD3A causing enhanced type I interferon signaling in patients with neurological and autoimmune features.

bioRxiv · Apr 2, 2021Immunology

IRF4 haploinsufficiency in a family with Whipples disease

A. Guerin, G. Kerner, N. Marr, J. G. Markle, F. Fenollar, N. Wong, S. Boughorbel, D. T. Avery, C. Ma, S. Bougarn, M. Bouaziz, V. Beziat, E. Della Mina, T. Lazarovt, L. Worley, , J.-L. Casanova

This study identifies IRF4 haploinsufficiency as the genetic cause of Whipples disease in a family, showing age-dependent incomplete penetrance and chronic Tw carriage preceding disease onset.

bioRxiv · Oct 3, 2017Immunology