Gaël Nicolas

55PUBLICATIONS
795CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Developmental genetics (incl. sex determination)NeurogeneticsNeurology and neuromuscular diseasesNeonatology
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Publications (55)

|Sep 15, 2026
APOE-stratified genome-wide association analyses provide insights into the genetic etiology of Alzheimers's disease.

|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

|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Ilaria Parenti, Alina Hesters, Marta Gil-Salvador

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Frequent Collaborators

16 joint publications

Jean-Charles Lambert

15 joint publications

Celine Bellenguez

12 joint publications

Sven van der Lee

12 joint publications

Henne Holstege