Author

Nathalie Lefort

InsermORCID 0000-0002-2484-6057Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:metabolomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Adolfo SaiardiiD· 1 shared Arnold MünnichiD· 1 shared Catherine Fossoud· 1 shared Céline BanaliD· 1 shared Christine Bôle‐FeysotiD· 1 shared Damir Musaev· 1 shared Daniel Medina-CanoiD· 1 shared Ekin Ucuncu· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Adolfo SaiardiORCID

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1 paper

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedNov 30, 2020

MINPP1 prevents intracellular accumulation of the cation chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson…·Vincent Cantagrel

This study identifies MINPP1 mutations as a cause of Pontocerebellar Hypoplasia, showing that MINPP1 deficiency leads to IP6 accumulation and cation chelation, disrupting brain development.

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humanbulk RNA-seq

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