Publications by authors named "A Toutain"

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Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.
Manon Dobrigna, Sandrine Poëa-Guyon, Mathieu Legras, Delphine Le Verger, Kevin Duarte, Annick Toutain

Neurobiol Dis· December 2025

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Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with point variants.
Laurence Pacot, Marinus Blok, Dominique Vidaud, Laura Fertitta, Ingrid Laurendeau, Annick Toutain

J Med Genet· November 2025

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Heterozygous alterations of at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorder.
Jeanne Jury, Thomas Besnard, Wallid Deb, Annick Toutain, Paul Gueguen

J Med Genet· October 2025

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DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective.
Liselot van der Laan, Karim Karimi, Kathleen Rooney, Mariëlle Alders, Alfredo Brusco, Annick Toutain

Eur J Hum Genet· September 2025

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Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosis.
Aurélien Palmyre, Fairouz Koraichi, Flavie Ader, Erwan Donal, Céline Bordet, Annick Toutain

Orphanet J Rare Dis· June 2025

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