Pierre Marijon

8PUBLICATIONS
191CO-AUTHORS
NeurogeneticsCell and nuclear divisionNeurology and neuromuscular diseasesComputer aided design
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Publications (8)

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

|Apr 08, 2026
Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders.

Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji

|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

|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

|Feb 15, 2025
Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.

David Haïm, Nathalie Roux, Lucile Boutaud

|Jan 26, 2023
Cutevariant: a standalone GUI-based desktop application to explore genetic variations from an annotated VCF file.

Sacha Schutz, Charles Monod-Broca, Lucas Bourneuf

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Frequent Collaborators

5 joint publications

Salima El Chehadeh

5 joint publications

Christel Depienne

5 joint publications

Benjamin Cogne

5 joint publications

Caroline Nava