Smaïl Hadj-Rabia

29PUBLICATIONS
257CO-AUTHORS
Developmental genetics (incl. sex determination)Medical biotechnology diagnostics (incl. biosensors)Genomics and transcriptomicsInfant and child healthNeurogenetics
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Publications (29)

|Oct 06, 2026
Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).

|Oct 06, 2026
Healthcare professionals' views on expanding newborn screening with or without genomics in France: Results of the SeDeN-p2 study.

|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

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Frequent Collaborators

16 joint publications

Ange-Line Buel

15 joint publications

Laurence Faivre

11 joint publications

Christophe Philippe

11 joint publications

Antonio Vitobello