Publications by authors named "A Piton"

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Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.
Ariane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, Levon Halabelian, Elise Schaefer, Amélie Piton

Am J Hum Genet· December 2025

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Genome region aware CADD thresholds for noncoding variant prioritization.
Jude-Félix Tenywa, Jean-Baptiste Lamouche, Sarah Baer, Samuel Nicaise, Antony Le Béchec, Amélie Piton

NAR Genom Bioinform· December 2025

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Amélie Piton

Nat Genet· November 2025

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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot, Amélie Piton

Genome Med· October 2025

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Autism-associated ARHGEF9 variants impair GABAergic synapses and ultrasonic communication by reducing gephyrin phosphorylation.
Hyeji Jung, Byeongchan Kim, Gyubin Jang, Hyojung Lee, Younghye Kim, Amélie Piton

Mol Psychiatry· October 2025

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