Publications by authors named "A Guichet"

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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.
Clara Houdayer, Kathleen Rooney, Liselot van der Laan, Céline Bris, Mariëlle Alders, Agnès Guichet

Eur J Hum Genet· 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, Agnès Guichet

medRxiv· September 2025

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Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation.
Laurie Mourozeau, Virginie Pichon, Aymane Bouzidi, Majida Charif, Marine Tessarech, Agnès Guichet

Ocul Immunol Inflamm· July 2025

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The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.
Charlène Daval, Nicolas Meunier-Beillard, Eléonore Viora-Dupont, Julian Delanne, Aurore Garde, Agnès Guichet

Prenat Diagn· July 2025

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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.
Christel Thauvin-Robinet, Aurore Garde, Maud Favier, Julian Delanne, Caroline Racine, Agnes Guichet

Eur J Hum Genet· May 2025

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