Matthew E. Johnson

Variant-to-function mapping of late-onset Alzheimer's disease GWAS signals in human microglial cell models implicates RTFDC1 at the CASS4 locus

The paper maps GWAS variants associated with late-onset Alzheimer's disease to functional effects in microglial cells, identifying RTFDC1 as a novel effector gene at the CASS4 locus.

Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant common complex traits

The paper maps cis-regulatory elements in human ESC-derived hypothalamic neurons and links them to GWAS loci for complex traits, identifying candidate genes and regulatory elements involved in hypothalamic development.

Genome-scale Capture C promoter interaction analysis implicates novel effector genes at GWAS loci for bone mineral density

The paper uses SPATIaL-seq and ATAC-seq to identify novel effector genes at GWAS loci for bone mineral density by mapping variant-promoter interactions in osteoblasts.