Author

Adeline Jacquinet

Centre Hospitalier Universitaire de LiègeORCID 0000-0002-8342-0427Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Organism:zebrafish· 1

Frequent Co-Authors

Abigail TurnwaldiD· 1 shared Alexia BourgoisiD· 1 shared Amanda Carnevale· 1 shared Amber Hogart BegtrupiD· 1 shared Amélie PitoniD· 1 shared Amelle ShillingtoniD· 1 shared Angelika Rieß· 1 shared Anna LehmaniD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abigail TurnwaldORCID

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2 papers

Recent·Most cited

Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies

Adeline Jacquinet, Lydie C. Flasse, Manon Dohet, Romane Vanhaeren, Hélène Pendeville, Carol Saunders, Anna Lehman, Catherine Pienkowski, Karine Morcel, Daniel Guerrier, Vincent Bours, Bernard Peers

The paper identifies NR6A1 variants as a cause of congenital renal, vertebral, and uterine anomalies through clinical and zebrafish model studies.

medRxiv · Jan 8, 2025 · PreprintGenetic & Genomic Medicine

Adaptor protein 2 sigma subunit (AP2S1) variants associated with neurodevelopmental disorders

Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes, Katherine A. English, Kreepa G. Kooblall, Roman Fischer, Raphael Heilig, Iolanda Vendrell, Maria E. W. A. Albers, Meghan N. Bartos, Amber Hogart Begtrup, Alexia Bourgois, Rebecca Buchert, David J. Carey, Deanna Alexis Carere, , Rajesh V. Thakker

The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.

medRxiv · Jul 22, 2024 · PreprintGenetic & Genomic Medicine