Bertrand Boisson

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.

The paper identifies clonal inflammatory microglia as a cause of neurodegeneration in LCH and ECD, showing their association with neuronal loss and suggesting CSF1R inhibitors as a therapeutic option.

The paper identifies microglia-specific somatic clones with pathogenic variants in Alzheimer's Disease patients that drive neuro-inflammation through the MAPK pathway.

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

This study identifies DPP9 deficiency as a Mendelian disorder causing inflammasome hyperactivity, which can be rescued by reducing NLRP1/IL-1 signaling in mice.

The paper identifies C2orf69 deficiency as a cause of a fatal auto-inflammatory syndrome in humans and zebrafish, affecting mitochondrial function and immune/cNS development.

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 introduces iMUBAC, a framework for integrating multi-batch cytometry data to identify cell types and detect immunophenotype abnormalities across datasets.

SeqTailor extracts DNA or protein sequences from VCF files for genetic variant analysis, providing a user-friendly webserver to support sequence-based predictions.

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

This study compares whole-genome sequencing (WGS) and whole-exome sequencing (WES) in six individuals, finding WGS more effective at detecting coding variants, particularly SNVs, with fewer false positives.