Author
Centre National de la Recherche ScientifiqueORCID 0000-0002-6886-0969Unclaimed 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.
Caroline Nava, Benjamin Cogné, Amandine Santini…·Radu Harbuz
The paper identifies de novo variants in RNU4-2 and RNU5B-1 as causes of neurodevelopmental disorders by disrupting splicing, with variant location and allele phase influencing clinical severity.
Vincent Michaud, Angèle Tingaud‐Sequeira, Elina Mercier…·Sophie Javerzat
The paper shows that blood cell RNA analysis can detect the effects of OCA2 variants on exon skipping and mRNA levels, helping to reclassify variants of unknown significance as pathogenic.
Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh…·Tianyun Wang
The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.