Publications by authors named "N Chatron"

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deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.
Marion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer, Aurélie Gouronc, Nicolas Chatron

J Med Genet· December 2025

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ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format.
Lucas W Gauthier, Marjolaine Willems, Nicolas Chatron, Camille Cenni, Pierre Meyer

NAR Genom Bioinform· December 2025

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De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, Anuradha V Chimata, Deepa S Rajan, Nicolas Chatron

Am J Hum Genet· December 2025

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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot, Nicolas Chatron

Genome Med· October 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Nicolas Chatron

medRxiv· September 2025

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