Salima El Chehadeh

17PUBLICATIONS
268CO-AUTHORS
NeurogeneticsCell and nuclear divisionNeurology and neuromuscular diseasesGenome structure and regulationEpigenetics (incl. genome methylation and epigenomics)
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Publications (17)

|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 22, 2026
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui

|Jan 08, 2026
Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

Valentina Muto, Giulia Fasano, Francesca Clementina Radio

|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

8 joint publications

Christel Depienne

7 joint publications

Benjamin Cogné

6 joint publications

Caroline Nava

5 joint publications

Nicola Whiffin