Diana Quintero

Single-cell genomics and regulatory networks for 388 human brains

The paper processes single-nuclei multi-omics data from 388 human brains to identify regulatory elements and build cell-type networks, revealing changes in aging and neuropsychiatric disorders.

Molecular cascades and cell-type specific signatures in ASD revealed by single cell genomics

The paper uses single nuclear RNAseq and epigenetic profiling to identify molecular changes and cell-type specific signatures in ASD, linking them to genetic risk factors.

Parallel functional testing identifies enhancers active in early postnatal mouse brain

The paper identifies and validates enhancers active in early postnatal mouse brain using a modified MPRA approach and rAAV delivery.

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice

This study shows that deleting a non-canonical regulatory region of Scn1a in mice leads to reduced Scn1a expression and epileptic symptoms.