Stella M. Dracheva

The paper identifies rare noncoding variants associated with Parkinson's disease using multi-omic data from over 3.3 million nuclei.

The paper measures 5-methyl-cytosine and 5-hydroxymethyl-cytosine in human neurons across the lifespan, showing dynamic changes in hmC linked to transcription, chromatin state, and sex-specific gene regulation.

This study shows that C9orf72 repeat expansions alter chromatin loops in neurons, linking RNA-DNA interactions to gene dysregulation in ALS.

The paper uses long-read transcriptomics to analyze human cortical cell types, revealing extensive isoform diversity in glial cells and identifying novel transcripts with disease-relevant splice variants.

The paper generates a molecular neuroanatomical map of the human prefrontal cortex using spatial transcriptomics and single nucleus RNA-sequencing, revealing novel spatial domains and cell-cell interactions linked to psychiatric disorders.

The paper examines transcriptome and epigenome changes in C9orf72 repeat expansion-associated ALS and FTD, showing distinct gene expression patterns in different cell types and brain regions.

The paper quantifies RNA editing in human brain cell types, identifies cell-specific editing sites, and discovers cis-editing quantitative trait loci linked to genetic regulation.

The paper identifies acetylated chromatin domains associated with dysfunction in schizophrenia and bipolar disorder by analyzing histone modifications in prefrontal cortex samples.

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.

The paper integrates chromatin architecture with transcriptomic data to explore cell-type-specific gene regulatory networks in brain disorders, identifying distinct cellular contributions to Alzheimer's and psychiatric diseases.