Paul Rollier

5PUBLICATIONS
160CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesNeurogenetics
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Publications (5)

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

|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

|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

|Oct 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France.

Camille Level, Christel Thauvin-Robinet, Christine Binquet

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Frequent Collaborators

4 joint publications

Laurence Faivre

2 joint publications

Amandine Santini

2 joint publications

Marlène Rio

2 joint publications

Stéphanie Ducreux