Smaïl Hadj-Rabia

27PUBLICATIONS

250CO-AUTHORS

Genomics and transcriptomicsInfant and child healthNeurogeneticsCell and nuclear divisionStructural properties of condensed matter

Get your video featured.

Publish with JoVE

Get your video featured.

Publish with JoVE

Publications (27)

Sort by Publication Date:

|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.

|May 18, 2026

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

|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

|Feb 02, 2026

Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Neftalí Vazquez, Chanjae Lee, Irene Valenzuela

Pageof 5

Frequent Collaborators

16 joint publications

Ange-Line Buel

13 joint publications

Laurence Faivre

11 joint publications

Christophe Philippe

11 joint publications

Antonio Vitobello

10 joint publications

Frédéric Tran-Mau-Them

8 joint publications

Anne-Sophie Denommé-Pichon

Arthur Sorlin

Caroline Racine

Paul Kuentz

Pierre Vabres

Frequent Collaborators

16 joint publications

Ange-Line Buel

13 joint publications

Laurence Faivre

11 joint publications

Christophe Philippe

11 joint publications

Antonio Vitobello