Kelsey S. Montgomery

Population-level variation of enhancer expression identifies novel disease mechanisms in the human brain

The paper identifies population-level variation in enhancer expression in the human brain and links enhancer eQTL to schizophrenia heritability.

Sex differences in the human brain transcriptome of cases with schizophrenia

This study examines sex differences in schizophrenia gene expression using RNA-seq data from 437 controls and 341 cases, finding small effect sizes and reproducible signatures involving X/Y-linked genes and synaptic pathways.

Multi-Tissue Neocortical Transcriptome-Wide Associations Study Implicates 8 Genes Across 6 Genomic Loci in Alzheimer's Disease

This paper identifies 8 genes across 6 genomic loci associated with Alzheimer's disease risk using transcriptome-wide association study and validates them with summary Mendelian randomization.

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

This paper performs a large-scale eQTL meta-analysis across cerebral cortical and cerebellar brain regions, identifying distinct eQTL patterns and demonstrating improved power over existing studies.

Functional annotation of rare structural variation in the human brain

The paper functionally annotates rare structural variants in the human brain by integrating SV calling with RNA-seq data to assess their regulatory effects and prioritize pathogenic deletions.