Scalable sequence–function studies have enabled the systematic analysis and cataloging of
hundreds of thousands of coding and noncoding genetic variants in the human genome …

A growing number of variants associated with risk for neurodevelopmental disorders have
been identified by genome-wide association and whole genome sequencing studies. As …

During mammalian development, differences in chromatin state coincide with cellular
differentiation and reflect changes in the gene regulatory landscape. In the developing brain …

Astrocytes respond to injury and disease in the central nervous system with reactive
changes that influence the outcome of the disorder,,–. These changes include differentially …

The gene regulatory code and grammar remain largely unknown, precluding our ability to
link phenotype to genotype in regulatory sequences. Here, using a massively parallel …

Massively parallel reporter assays (MPRAs) can simultaneously measure the function of
thousands of candidate regulatory sequences (CRSs) in a quantitative manner. In this …

The inability to scalably and precisely measure the activity of developmental cis-regulatory
elements (CREs) in multicellular systems is a bottleneck in genomics. Here we develop a …

The human genome contains millions of candidate cis-regulatory elements (CREs) with cell-
type-specific activities that shape both health and myriad disease states. However, we lack a …

How multiple epigenetic layers and transcription factors (TFs) interact to facilitate brain
development is largely unknown. Here, to systematically map the regulatory landscape of …

Chromodomain helicase DNA-binding protein 7 (CHD7), an ATP-dependent eukaryotic
chromatin remodeling enzyme, is essential for the development of organs. The mutation of …