Amelie Piton

29PUBLICATIONS
349CO-AUTHORS
NeurogeneticsNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Gene and molecular therapy
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Publications (29)

|Oct 08, 2026
Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Elsa Leitão, Amandine Santini, Benjamin Cogne

|Jan 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Céline Jost, Tiffany Busa, Daniel Wegner

|Nov 21, 2025
Genome region aware CADD thresholds for noncoding variant prioritization.

Jude-Félix Tenywa, Jean-Baptiste Lamouche, Sarah Baer

|Nov 01, 2025
Autism-associated ARHGEF9 variants impair GABAergic synapses and ultrasonic communication by reducing gephyrin phosphorylation.

Hyeji Jung, Byeongchan Kim, Gyubin Jang

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

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Frequent Collaborators

6 joint publications

Benjamin Cogné

6 joint publications

Frederic Tran Mau-Them

6 joint publications

Gaëtan Lesca

5 joint publications

Katrin Õunap