Sarah E. Bertelsen

17q21.31 sub-haplotypes underlying H1-associated risk for Parkinsons disease are associated with LRRC37A/2 expression in astrocytes

The paper identifies three H1 sub-haplotypes at the 17q21.31 locus associated with Parkinson's disease risk and links them to LRRC37A/2 expression in astrocytes.

Cholesterol and matrisome pathways dysregulated in human APOE ε4 glia

This study identifies dysregulation of cholesterol and matrisome pathways in human APOE ε4 glia, linking them to Alzheimer's disease risk.

Analysis of whole genome-transcriptomic organization in brain to identify genes associated with alcoholism

The paper identifies 129 differentially expressed genes in the PFC of alcoholics and links them to pathways and modules associated with alcohol dependence and consumption.

Exome chip meta-analysis elucidates the genetic architecture of rare coding variants in smoking and drinking behavior

The paper analyzes rare coding variants in smoking and drinking behavior using exome chip data, finding that they contribute to phenotypic variation but require larger samples for individual variant associations.

Trans-ancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

This study conducts a trans-ancestral GWAS of alcohol dependence, identifying genetic variants and correlations with psychiatric disorders.

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer’s disease

This study identifies a haplotype lowering PU.1 expression in myeloid cells that delays Alzheimer’s disease onset by affecting gene expression and function.