Alice Goldenberg

6PUBLICATIONS
165CO-AUTHORS
Infant and child healthEpigenetics (incl. genome methylation and epigenomics)Central nervous systemNeurology and neuromuscular diseasesPhotonics, optoelectronics and optical communications
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Publications (6)

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

|Apr 09, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Amandine Santini, Angelo Tognon, Anne-Claire Richard

|Oct 31, 2024
Brain malformations and seizures by impaired chaperonin function of TRiC.

Florian Kraft, Piere Rodriguez-Aliaga, Weimin Yuan

|Apr 21, 2022
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

Juliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari

|Jun 22, 2018
IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

E Brischoux-Boucher, A Trimouille, G Baujat

|Feb 03, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Paul Kuentz, Judith St-Onge, Yannis Duffourd

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Frequent Collaborators

3 joint publications

Gaël Nicolas

2 joint publications

Elise Brischoux-Boucher

2 joint publications

Anne-Marie Guerrot

2 joint publications

Smaïl Hadj-Rabia