Neurodevelopmental Disorders (NDD) Caused by Genomic Alterations of the Ubiquitin-Proteasome System (UPS): the Possible Contribution of Immune Dysregulation to Disease PathogenesisFrédéric Ebstein, Elke Krüger|Frontiers in Molecular Neuroscience|2021Cited by 48
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Yannis Trakadis, Tzung‐Chien Hsieh et al.|Science Translational Medicine|2023Cited by 36
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon responseWallid Deb, Frédéric Ebstein|The American Journal of Human Genetics|2024Cited by 8
Biallelic USP14 variants cause a syndromic neurodevelopmental disorderFrédéric Ebstein, Bertrand Isidor|Genetics in Medicine|2024Cited by 2
Novel de novo dominant <i>PSMB10</i> variants in three patients with immune deficiency and liver diseaseBenjamin Fournier, Frédéric Ebstein|Journal of Human Immunity|2025Cited by 2