Author
Université de ToursPrimary ORCID profile (0000-0003-2930-6073 · 5 papers)Unclaimed ORCID profile · follow to get notified of new preprints
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
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.
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.
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji…·Gregory M. Findlay
This study uses saturation genome editing to analyze RNU4-2 variants, identifying functional impacts and redefining the ReNU syndrome critical region.