Author
Hôpital Necker-Enfants MaladesORCID 0000-0002-9412-1932Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Matthieu Chaldebas, Khoren Ponsin, Haralambos A. Mourelatos…·Aurélie Cobat
The paper introduces 5ULTRA, a machine-learning tool for annotating 5'UTR variants, identifying new gene-phenotype associations in the UK Biobank that are missed by existing methods.
Laura Sengl, Ivan Bagarić, Clément Conil…·Jonathan Bohlen
The paper identifies sequence variation in 5S rRNA genes across human populations and shows that variants disrupting ribosome assembly activate p53 and are selected against.
Diana Olguín-Calderón, Laura E. Kilpatrick, Clément Conil…·Stéphanie Boisson‐Dupuis
Homozygosity for hypomorphic IL23R variants (G149R, G300V, R381Q) partly impairs IL-23-dependent IFN-γ production in patient cells; with L372F (effect inferred), they are enriched in tuberculosis, not MSMD or CMC patients.