Alex M. Casella

The paper compiles a large transcriptomic dataset of neocortical development and uses joint matrix decomposition to identify conserved transcriptome dynamics across mammals and developmental stages.

The paper introduces RWAS, a method linking enhancer characteristics to genetic risk for schizophrenia, finding risk-associated enhancers are brain-active, conserved, AT-rich, and linked to neurodevelopmental transcription factors.

The paper identifies 31 new genomic risk loci for hearing difficulty using GWAS and multi-omic analysis, highlighting gene regulation in cochlear cells.

The paper develops a workflow to identify transcription factor binding sites across 27 human tissues using DNase-seq data, resulting in a comprehensive footprint atlas with high-quality predictions.

The paper maps chromatin accessibility in developing human brain and organoids using scATAC-seq, revealing cell type-specific regulatory elements and their role in neurodevelopment.

The paper constructs a brain-specific transcriptional regulatory network model to identify core transcription factors involved in psychiatric and neurodegenerative diseases.