Publications by authors named "S Valence"

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A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Delphine Héron, Anna Gerasimenko, Lisa Frugère, Jade Ducourneau, Capucine Rossi, Stéphanie Valence

Brain· December 2025

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Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.
Caroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, Nicolas Chatron, Marion Beaumont, Stéphanie Valence

J Med Genet· November 2025

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Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals.
Meghane Durizot, Lydie Burglen, Catherine Garel, Eléonore Blondiaux, Audrey Riquet, Stéphanie Valence

Pediatr Neurol· September 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, Stéphanie Valence

medRxiv· September 2025

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Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome.
Clément Pierret, Florence Riccardi, Julien Neveu, Marie Alesandrini, Cécilia Altuzarra, Stéphanie Valence

Epilepsia· June 2025

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