Author
Centre National de la Recherche ScientifiqueORCID 0009-0006-1899-0171Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Elsa Leitão, Amandine Santini, Benjamin Cogné…·Johanna Herwig
The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.
Mathis Fleury, Zakaria Mougin, Claire S. Leblond…·Thomas Bourgeron
The paper introduces a multiscale resource integrating genetics, brain imaging, and clinical data from autistic individuals and their relatives to explore genetic and neurobiological patterns in autism.
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.