Author
Centre Hospitalier Universitaire de Nantes
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
4 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.
Jeanne Mari V. Bang, Christina Ringmann Fagerberg, Thomas Koed Doktor…·Brage Storstein Andresen
The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.
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.
María del Rocío Pérez Baca, María Palomares‐Bralo, Michiel Vanhooydonck…·Stephanie Baskin
This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.