Julien Van-Gils

15PUBLICATIONS
235CO-AUTHORS
Oral implantologyNeurology and neuromuscular diseasesNeurogeneticsCentral nervous systemDevelopmental genetics (incl. sex determination)
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Publications (15)

|Sep 04, 2026
Resin Infiltration for the Management of Hypomature Amelogenesis Imperfecta: A Case Report.

|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

|Mar 03, 2026
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.

Perrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande

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

Camille Engel, Michaela Rendek, Jessica Assoumani

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

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Frequent Collaborators

6 joint publications

Marlène Rio

6 joint publications

Jonathan Levy

5 joint publications

David Geneviève

5 joint publications

Anne-Sophie Denommé-Pichon