Rebecca E. McIntyre

The paper presents the Human Gut Cell Atlas v1.0, a unified reference of gut cell diversity, revealing how tissue structure influences cellular composition and enabling disease and organoid analysis.

The paper identifies molecular signatures of Crohn's disease using scRNA-seq data from terminal ileal biopsies, highlighting key cell types and pathways involved in disease pathogenesis.

The paper maps cell-type-specific eQTLs in IBD patients to identify effector genes and mechanisms linking genetic risk to disease.

This study uses single-cell RNA sequencing to analyze immune cell transcriptional profiles in mucosal and circulatory compartments of Crohn's disease patients, revealing tissue-specific inflammation signatures and identifying circulating T cells with mucosal-like features.

This study investigates the effects of the PLCγ2 S707Y hypermorphic variant on human microglia, showing increased enzymatic activity but reduced phagocytosis and cytokine production, and suggests therapeutic strategies should mimic the beneficial effects of the P522R variant.

The paper analyzes somatic mutations in colonic crypts of IBD patients and controls, finding higher mutation rates and clonal expansions in IBD-affected tissue.

The paper estimates the contribution of recessive coding variants to developmental disorders using exome data from 7,448 families, finding low prevalence in European ancestry but higher in Pakistani ancestry.