Carl D. Langefeld

This study profiles B cell activation states using multi-omics data to identify genetic mechanisms underlying immune-mediated diseases.

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.

ERICH-GENE collects and analyzes genomic and neuroimaging data from over 10,000 multi-ethnic ICH cases to identify genetic risk factors and trans-ethnic variation in ICH.

The paper identifies functional regulatory SNPs in SLE risk loci by testing their impact on transcription factor binding and gene expression.

The paper identifies a regulatory pathway involving rs7034653, FRA2, and TRAF1 that explains how a non-coding variant increases risk of inflammatory arthritis.

The paper performs deep resequencing of the 1q22 locus in non-lobar ICH cases and controls to identify causal variants and mechanisms.

The paper identifies causal SNPs near ERAP2 that regulate its expression through long-range chromatin interactions, linking autoimmune disease risk variants to enhancer activity.

This paper develops a genomic risk score for intracerebral hemorrhage using genome-wide association data and validates its predictive power in multiple cohorts.

The paper identifies 554 consensus genes in outbred rats and humans associated with body weight and BMI, revealing shared genetic regulatory mechanisms relevant for obesity.

This study shows that high fat diet affects metabolic health similarly in male and female HS rats but only males show altered behavioral responses, with genetic factors influencing both outcomes.

This study identifies novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.

This study analyzes the genetic structure of Gullah African Americans, finding higher African ancestry and lower European admixture compared to non-Gullah African Americans.

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

The paper identifies pseudoreplication bias in single-cell studies and proposes mixed models to address it, improving statistical inference and study design.

This study introduces DNA topology as a prioritization metric for genomic fine-mapping, using minor groove width changes to identify functionally relevant SNPs in non-coding regions associated with System Lupus Erythematosus.

This study identifies 242 genetic loci for glycaemic traits using trans-ancestry meta-analysis, finding 99 novel loci and improved fine-mapping resolution compared to single-ancestry analyses.

The paper introduces RIFT, a method to identify influential rare variants in aggregate association tests, showing higher sensitivity and lower false positive rates compared to existing methods.

This study identifies C4 genes in the MHC locus as sex-specific contributors to risk for lupus, Sjogrens syndrome, and schizophrenia, with stronger effects in men than women.

The paper identifies subtype-specific genetic loci associated with stroke subtypes and finds heterogeneity in their effects across different stroke types.