Eric J. Allenspach

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

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 identifies SH2B3 as a critical regulator of T cell tolerance in T1D, showing that its deficiency enhances cytokine signaling and promotes islet destruction.

This study shows the IFIH1-A946T risk variant increases T1D risk in females but not males by enhancing IFN I signaling and altering immune cell profiles in NOD mice.