Author
Université Paris CitéORCID 0000-0003-4007-3629Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
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.
Camille Cosson, Romane Riou, Danish Patoli…·Bénédicte F. Py
This study functionally characterizes 34 NLRP3 variants associated with CAPS, identifying functional diversity and inhibitor sensitivity, with implications for diagnosis and drug development.
Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano…·Gregory M. Cooper
The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.
Claire S. Leblond, Freddy Cliquet, Coralie Carton-Buonafine…·Thomas Bourgeron
This study identifies both rare and common genetic variants contributing to autism in the Faroe Islands by analyzing SNP array and whole exome sequencing data from 357 individuals.