Publications by authors named "P Chambon"

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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, Pascal Chambon

J Med Genet· December 2025

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Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing.
Grégoire Blavier, François Lecoquierre, Anne-Marie Guerrot, Géraldine Joly Hélas, Stéphane Rondeau, Pascal Chambon

Mol Cytogenet· December 2025

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Improving Performance, Robustness, and Fairness of Radiographic AI Models with Finely-Controllable Synthetic Data.
Stefania L Moroianu, Christian Bluethgen, Pierre Chambon, Mehdi Cherti, Jean-Benoit Delbrouck

Res Sq· November 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, Pascal Chambon

medRxiv· September 2025

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Identification and Characterization of Chromothripsis by Optical Genome Mapping.
Pascal Chambon, Mathilde Quibeuf, Anne Marie Guerrot

Methods Mol Biol· August 2025

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