Smaïl Hadj-Rabia

27PUBLICATIONS
250CO-AUTHORS
Genomics and transcriptomicsInfant and child healthNeurogeneticsCell and nuclear divisionNeurology and neuromuscular diseases
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Publications (27)

|Jun 26, 2026
Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools.

|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

|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

|Jan 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Céline Jost, Tiffany Busa, Daniel Wegner

|Dec 09, 2025
Genomic pathway managers: a novel role in the genomic medicine care pathway in France-overview and perspectives.

Léa Gaudillat, Léa Patay, Juliette Santenard

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Frequent Collaborators

16 joint publications

Ange-Line Buel

13 joint publications

Laurence Faivre

11 joint publications

Christophe Philippe

11 joint publications

Antonio Vitobello