Frédéric Ebstein

12PUBLICATIONS
193CO-AUTHORS
Immunogenetics (incl. genetic immunology)NeurogeneticsNeurology and neuromuscular diseasesInfant and child healthEpigenetics (incl. genome methylation and epigenomics)
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Publications (12)

|May 22, 2026
Novel de novo dominant PSMB10 variants in three patients with immune deficiency and liver disease.

|Dec 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Wallid Deb, Thomas Besnard, Florence Desprez

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Frédéric Ebstein, Sébastien Küry, Victoria Most

|Mar 29, 2023
Establishing 20S Proteasome Genetic, Translational and Post-Translational Status from Precious Biological and Patient Samples with Top-Down MS.

Angelique Sanchez Dafun, Dušan Živković, Stephen Adonai Leon-Icaza

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Frequent Collaborators

8 joint publications

Elke Krüger

5 joint publications

Sébastien Küry

5 joint publications

Stéphane Bézieau

4 joint publications

Wallid Deb