Catherine C. Robertson

The paper maps cell type-specific genetic effects on nucleosome-free regions and nucleosome occupancy using snATAC-seq data from human muscle biopsies, showing causal relationships between these elements and GWAS traits.

The paper integrates multiple scRNA-seq datasets to create a comprehensive atlas of human pancreatic islets, identifying 13 cell populations and providing a resource for diabetes research.

The paper identifies genetic factors influencing iPSC growth rates, finding rare variants in WDR54 and a polygenic background explaining most variance.

This study demonstrates nanopore sequencing of 10x Genomics multiome libraries to capture full-length transcripts and identify TSS, showing concordance with short-read methods despite higher error rates.

This paper develops ancestry-specific and combined HLA-focused genetic risk scores for type 1 diabetes and evaluates their performance across diverse populations.

The paper develops vascularized macrophage-islet organoids to study immune-mediated β cell pyroptosis during viral infection and identifies TNFSF12-TNFRSF12A as a key mechanism.

This study uses single-cell RNA sequencing to analyze gene expression changes in human pancreatic islets under different glucose conditions over 24 hours, identifying genes and modules associated with time, glucose exposure, and their interaction.

This study identifies causal variants, cells, genes, and drug targets for type 1 diabetes using large-scale genetic and functional genomic analyses.

The paper identifies 302 new genetic signals for type 1 diabetes and autoimmune thyroid disease by combining effect size and significance, showing that only 28% of genome-wide significant signals have large effects.