Paul Kuentz

50PUBLICATIONS
219CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)NeurogeneticsNanoscale characterisationMedical biotechnology not elsewhere classified
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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.

|Apr 02, 2026
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|Mar 26, 2026
Linear and whorled hypermelanosis: A multicentre retrospective cohort of 33 patients.

Marion Descos, Paul Kuentz, Smail Hadj-Rabia

|Dec 11, 2025
'McCune-Albright-like' syndrome associated with a post-zygotic KRAS variant.

Héloïse Jourdain, Fanny Morice-Picard, Raul Perret

|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

15 joint publications

Laurence Faivre

10 joint publications

Pierre Vabres

8 joint publications

Arthur Sorlin

7 joint publications

Juliette Piard