Caroline Nava

17PUBLICATIONS
335CO-AUTHORS
Genome structure and regulationGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsCell and nuclear divisionNeurology and neuromuscular diseases
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Publications (17)

|Jun 26, 2026
RBMX functional retrocopy safeguards brain development in a species-dependent context.

|Jun 08, 2026
Genome sequencing identifies monogenic causes in adults with metabolic diseases.

|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

|Jan 14, 2026
A transposase-derived gene required for human brain development.

Luz Jubierre Zapater, Sara A Lewis, Rodrigo Lopez Gutierrez

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Frequent Collaborators

10 joint publications

Christel Depienne

7 joint publications

Elsa Leitão

6 joint publications

Benjamin Cogne

6 joint publications

Salima El Chehadeh