Author
InsermORCID 0000-0001-8008-9145Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden…·Marta Codina‐Solà
The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.
Jérémie Courraud, Camille Engel, Angélique Quartier…·Amélie Piton
This study investigates the molecular consequences of PQBP1 deficiency in Renpenning syndrome by analyzing gene expression and protein interactions, identifying dysregulated genes and a novel UPF3B isoform.
Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen…·Tjitske Kleefstra
This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.
Nicolas Chatron, Giuliana Giannuzzi, Pierre‐Antoine Rollat‐Farnier…·Caroline Schluth‐Bolard
The paper analyzes chromoanagenesis breakpoints in constitutional and cancer cases, finding enrichment in late-replicating chromatin and suggesting similar mechanisms for both.