Laurence Olivier-Faivre

75PUBLICATIONS
651CO-AUTHORS
Molecular targetsNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)NeonatologyEpigenetics (incl. genome methylation and epigenomics)
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Publications (75)

|Jul 08, 2026
Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

|Jun 23, 2026
Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants.

|May 28, 2026
Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum.

|Apr 22, 2026
Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy.

|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

|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

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Frequent Collaborators

21 joint publications

Ange-Line Bruel

16 joint publications

Antonio Vitobello

15 joint publications

Paul Kuentz

15 joint publications

Anne-Sophie Denommé-Pichon