Author

Nathalie Beaufort

Institut für Schlaganfall- und DemenzforschungORCID 0000-0002-7088-4206Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Martin DichgansiD· 2 shared Amy FergusoniD· 1 shared Benno G. GesierichiD· 1 shared Cathie L. M. SudlowiD· 1 shared Christof HaffneriD· 1 shared David C. Hill‐EubanksiD· 1 shared Emma Moreland· 1 shared Katalin VölgyiiD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersNeuroscience

Martin DichgansORCID

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2 papers

Recent·Most cited

NeurosciencebioRxivPreprintDec 25, 2025

Endothelial Arf6 sustains capillary electrical signaling and cerebral blood flow through PIP2 regeneration and activation of Kir2.1 channels.

Maria F. Noterman, María Sancho, Saúl Huerta de la Cruz…·Mark T. Nelson

This study shows that Arf6 maintains PIP2 levels in capillary endothelial cells, sustaining Kir2.1 channel activity and functional hyperemia, and identifies Arf6 as a therapeutic target for cerebral blood flow restoration.

DOI 10.64898/2025.12.23.696233

mouseelectronic health records

𝕏 PostBluesky

Genetic & Genomic MedicineBrainPeer-reviewedJul 6, 2021

Whole-exome sequencing in 16,511 individuals reveals a role of the HTRA1 protease and its substrate EGFL8 in brain white matter hyperintensities

Rainer Malik, Nathalie Beaufort, Simon Frerich…·Martin Dichgans

The paper identifies rare variants in HTRA1 and its substrate EGFL8 associated with increased white matter hyperintensities using whole-exome sequencing data from 16,511 UK Biobank individuals.

44 citations

humanwhole-exome sequencing

𝕏 PostBluesky