Camille Charbonnier

8PUBLICATIONS
176CO-AUTHORS
Developmental genetics (incl. sex determination)NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesCancer cell biology
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Publications (8)

|Aug 14, 2026
PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease hallmarks in neuronal cultures.

|May 29, 2026
Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios.

|Apr 09, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Amandine Santini, Angelo Tognon, Anne-Claire Richard

|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

|Feb 13, 2026
Simultaneous Study of Circular RNAs and Messenger RNAs in Colorectal Cancer: The Unbalanced Fate of a Couple?

Corentin Levacher, Joanna Delfosse, Camille Charbonnier

|Mar 31, 2025
Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.

François Lecoquierre, Nathalie Drouot, Sophie Coutant

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Frequent Collaborators

7 joint publications

Gaël Nicolas

3 joint publications

Marlène Rio

3 joint publications

Jonathan Levy

3 joint publications

Nicolas Chatron