Author

Véronique Pingault

Hôpital Necker-Enfants MaladesORCID 0000-0001-7064-0765Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:Drosophila· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Amanda Peterson· 1 shared Anne GregoriD· 1 shared Antonio NovelliiD· 1 shared Benjamin CognéiD· 1 shared Boris KereniD· 1 shared Catherine Ward Melver· 1 shared Christel DepienneiD· 1 shared Christiane ZweieriD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Amanda Peterson

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedJun 19, 2026

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms

Rebecca Fluri, Mireia Coll-Tané, Theresa Brunet…·Anne Gregor

The paper identifies de novo LDB1 variants linked to distinct neurodevelopmental phenotypes based on variant location and pathomechanisms, confirmed through in vitro and in vivo studies.

DOI 10.1016/j.ajhg.2026.05.012

humanDrosophila

𝕏 PostBluesky