Patrick M. Gaffney

This paper identifies 41 risk loci for juvenile idiopathic arthritis, including 14 novel ones, and presents a polygenic risk score associated with age of onset, along with functional mechanisms involving DNA topology and an HLA-A*02:01-ERAP2 interaction.

This study uses single-cell RNA sequencing to show ancestry-specific B cell signaling changes in sarcoidosis, with more differentially expressed genes in African ancestry patients.

The paper identifies five SNPs in the DDX6-CXCR5 locus associated with autoimmune diseases and shows their functional effects on gene regulation in immune and epithelial cells.

This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.

This study identifies cardiac myosin autoantibodies associated with reduced ejection fraction and fibrotic transcriptomes in nonrecovered myocarditis patients.

The paper uses a massively parallel reporter assay to identify variants influencing gene expression in lupus and autoimmune diseases, finding hQTLs are more functional than eQTLs and identifying 31 putative causal variants.

This study compares 3D chromatin structures of pediatric and adult B cells, finding similar architectures across age groups and suggesting adult datasets may suffice for studying pediatric autoimmune diseases.

The paper improves genetic mapping resolution in autoimmune diseases by identifying shared alleles across multiple conditions and reveals widespread shared mechanisms.

The paper identifies gene targets at risk loci for skin-related disorders by integrating HiChIP data from relevant cell lines and public datasets.

This study uses Capture Hi-C and CRISPR activation to identify KLF4 as a target gene in the 9q31 psoriasis risk locus, linking GWAS variants to functional interactions.

This study shows IRF5 promotes mRNA translation of ATF4 during amino acid deprivation by interacting with the translation initiation complex without eIF4E.