Georgina E. T. Blake

The paper introduces optimized fluorescence-activated nuclei sorting (FANS) protocols to isolate cell-type-specific nuclei from human and mouse brain tissue for multi-omic analysis.

The paper integrates multiomic data from human brain nuclei with GWAS statistics to prioritize neural cell types associated with brain-related traits.

The paper identifies cell-type-specific DNA methylation differences in autism, revealing female-specific X chromosome alterations in microglia.

The paper identifies neuron-specific DNA methylation differences in schizophrenia using cell type-resolved epigenome-wide association study in prefrontal cortex nuclei.

This study identifies cell-type-specific DNA methylation dynamics in the human cortex across development, highlighting prenatal periods as critical for epigenomic plasticity and linking changes to neurodevelopmental disorders.

The paper provides guidance for designing and analyzing cell-type specific epigenetic epidemiology studies using DNA methylation data from purified cell populations.

The paper develops and validates deconvolution models using DNA methylation data to estimate cell-type proportions in the human cortex, finding glial cells are twice as abundant as neurons and linking cell-type proportions to Alzheimer's disease neuropathology.

The paper shows that defective folate metabolism leads to germline epigenetic instability and identifies Hira transcript expression as a biomarker for maternal phenotypic inheritance.