Charlotte Cunningham‐Rundles

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 paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

This study shows that NF-κB signaling is necessary for maintaining X-chromosome inactivation in female T cells after activation.

This study identifies AIRE as a checkpoint in germinal center B cells that limits antibody diversification by inhibiting AID function, leading to autoimmunity and impaired immune responses.

The NYCKidSeq project evaluates the clinical utility and communication of genomic testing in diverse children through a randomized controlled trial.