Publications by authors named "Anais Philippe"

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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, Anaïs Philippe, Christophe Philippe

Genome Med· October 2025

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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Christophe Philippe, Anais Philippe

Eur J Hum Genet· April 2023

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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Juliette Coursimault, Kévin Cassinari, François Lecoquierre, Olivier Quenez, Sophie Coutant, Anaïs Philippe

Hum Mutat· December 2022

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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Alban Ziegler, Rémi Duclaux-Loras, Céline Revenu, Fabienne Charbit-Henrion, Bernadette Begue, Anaïs Philippe

Am J Hum Genet· June 2021

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