Paul Kuentz

50PUBLICATIONS
219CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (50)

|Jul 24, 2026
Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

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

|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

|Oct 08, 2025
ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Marion Lesieur-Sebellin, Kristen Wigby, Elise Schaefer

|Jun 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|Feb 18, 2025
A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome.

Rana El Masri, Alberto Iannuzzo, Paul Kuentz

Pageof 9

Frequent Collaborators

15 joint publications

Laurence Faivre

10 joint publications

Pierre Vabres

8 joint publications

Arthur Sorlin

7 joint publications

Juliette Piard