Author

Nathalie Godefroid

Cliniques Universitaires Saint-LucORCID 0000-0002-7354-4741Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Approach:genetic perturbation / CRISPR· 1 Assay:imaging· 1

Frequent Co-Authors

Alice S. SerafiniD· 1 shared Alina Braun· 1 shared Amandine ViauiD· 1 shared Anne Grapin‐BottoniD· 1 shared Antonio Garcı́a de HerrerosiD· 1 shared Anukrati Nigam· 1 shared Axelle E. LoriotiD· 1 shared Bernhard SchermeriD· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

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1 shared paperCell Biology

Alice S. SerafinORCID

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2 papers

Recent·Most cited

Cell BiologyGutPeer-reviewedAug 18, 2026

Ciliogenic pancreatopathy reveals a link between ciliopathies and exocrine pancreatic disease

Memoona Rajput, Lydie C. Flasse, Esther Porée…·Isabelle Scheers

This study identifies HNF1B and NPHP3 mutations as causes of a new pancreatic disease, ciliogenic pancreatopathy, characterized by acinar atrophy and adipose replacement, and links ciliary dysfunction to pancreatic dysfunction in humans and mice.

1 citation

mousehuman

𝕏 PostBluesky

GeneticsbioRxivPreprintMar 11, 2021

mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome

Karl P. Schlingmann, François Jouret, Kuang Shen…·Jeroen H. F. de Baaij

The paper identifies mTOR-activating mutations in RRAGD causing kidney tubulopathy and cardiomyopathy (KICA) syndrome through genetic and functional analyses of patient cohorts.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky