Author
Centre National de la Recherche ScientifiqueORCID 0000-0003-0287-3561Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Nathalie Merillon, Magalie Barth, Alban C. Ziegler…·Charline Miot
The paper identifies biallelic WDR91 variants causing a neurodevelopmental disorder by impairing endosomal maturation and autophagy.
Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden…·Marta Codina‐Solà
The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.
Tom Snelling, L. Olory-Garnotel, Isabelle Jéru…·Alban C. Ziegler
The paper identifies a new ALPK1 variant causing ROSAH syndrome and shows it has altered activation by different metabolites, explaining autoinflammatory episodes.
Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh…·Tianyun Wang
The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.
Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang…·Elliott H. Sherr
This study identifies DDX3X mutations as causing neurodevelopmental disorders by disrupting RNA metabolism and neurogenesis during fetal cortical development.