Anne Puel

Homozygosity for hypomorphic IL23R variants (G149R, G300V, R381Q) partly impairs IL-23-dependent IFN-γ production in patient cells; with L372F (effect inferred), they are enriched in tuberculosis, not MSMD or CMC patients.

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

This study uses ancient genomics to show that genetic adaptation to pathogens in post-Neolithic Europe increased inflammatory disease risk through antagonistic pleiotropy.

The paper introduces BPHunter, a computational tool to detect intronic variants disrupting branchpoints, identifies known and novel mutations, and validates them experimentally.

HMZDelFinder_opt improves detection of homozygous and hemizygous partial exon deletions in WES data by optimizing reference controls and using a sliding window approach.

The paper develops CoNeS to assess negative selection on genes causing severe inborn errors, finding that disease outcome and inheritance mode/mechanism influence selection strength.

The paper identifies gene- and protein-level features distinguishing gain-of-function and loss-of-function mutations using NLP and machine learning on a new database of pathogenic mutations.

The paper identifies a mutation in Cdc42 that causes a severe autoinflammatory syndrome by trapping the protein in the Golgi and disrupting its membrane interaction.

The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.