Publications by authors named "A Vitobello"

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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Antonio Vitobello

Am J Hum Genet· November 2025

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Past, present, and future of genomic technologies in cerebellar ataxias.
Marie Lucain, Yannis Duffourd, Marlene Malbos, Antonio Vitobello, Christel Thauvin-Robinet

J Neurol· November 2025

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Identification of an episignature for the MEF2C-associated syndrome.
Ananília Silva, Sadegheh Haghshenas, Liselot van der Laan, Michael A Levy, Raissa Relator, Antonio Vitobello

Eur J Hum Genet· November 2025

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Antonio Vitobello

Nat Commun· November 2025

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Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort.
Eléonore Viora-Dupont, Julian Delanne, Aurore Garde, Sophie Nambot, Estelle Colin, Antonio Vitobello

Mol Autism· October 2025

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