Celine K. Vuong

scRBP infers cell-specific RNA-binding protein regulons from single-cell transcriptomes, resolving targets at gene and isoform levels and linking genetic risk to disease.

This study uses single-nucleus multi-omics to analyze the developing Down syndrome neocortex, identifying dysregulated molecular and gene-regulatory mechanisms affecting neurogenesis and cell specification.

The paper identifies cell-type-specific genetic regulation of RNA-editing and alternative polyadenylation in human neural progenitors and neurons, linking these to brain-related traits.

The paper identifies extensive isoform diversity in the developing human neocortex and links it to neuropsychiatric disorder risk mechanisms.

This study shows KAT6A mutations cause transcriptional dysregulation of cell cycle and autism risk genes in cerebral organoids, leading to delayed neural differentiation and altered gene expression patterns.

The paper defines single cell transcriptomic profiles of 40,000 human neocortical cells to identify cell types, developmental trajectories, and disease-related gene expression.