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Marlene Rio

13PUBLICATIONS
341CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsNeurology and neuromuscular diseasesCellular nervous systemChild language acquisition
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Journal

Publications (13)

Sort by Publication Date:
|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

|Apr 02, 2026
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|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 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.

Quentin Sabbagh, Camille Cenni, Sadegheh Haghshenas

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Jun 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

Pageof 3

Frequent Collaborators

7 joint publications

Jonathan Levy

6 joint publications

Julien Van-Gils

6 joint publications

David Geneviève

5 joint publications

Nicolas Chatron

5 joint publications

Anne-Sophie Denommé-Pichon

4 joint publications

Gaëtan Lesca

4 joint publications

Benjamin Cogné

4 joint publications

Gaël Nicolas

4 joint publications

Laurence Faivre

4 joint publications

Stéphane Bézieau

Frequent Collaborators

7 joint publications

Jonathan Levy

6 joint publications

Julien Van-Gils

6 joint publications

David Geneviève

5 joint publications

Nicolas Chatron

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