Publications by authors named "A Putoux"

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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, Audrey Putoux

J Med Genet· December 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, Audrey Putoux

Prenat Diagn· July 2025

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Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.
Nancy Vegas, Marlène Rio, Pauline Adnot, Véronique Soupre, Florence Petit, Audrey Putoux

Orphanet J Rare Dis· June 2025

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Pathogenic Variants Cause Obstructive Ventriculomegaly Related to Diencephalosynapsis and Third Ventricle Atresia.
Sara Cabet, Jean-François Ghersi-Egea, Suonavy Khung-Savatovsky, Fabien Guimiot, Audrey Putoux

Genes (Basel)· June 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, Audrey Putoux

Eur J Hum Genet· May 2025

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