The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

Autism spectrum disorders (ASD) is a heterogeneous group of neurodevelopmental
disorders characterized by synaptic dysfunction and defects in dendritic spine morphology …

We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …

Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly
to autism spectrum disorders (ASDs) but have been primarily investigated in European …

Mediator is a conserved multi-subunit signal processor through which regulatory
informatiosn conveyed by gene-specific transcription factors is transduced to RNA …

The most recent genome-wide association study (GWAS) of cutaneous melanoma identified
54 risk-associated loci, but functional variants and their target genes for most have not been …

Heart rate (HR) responds to exercise by increasing during exercise and recovering after
exercise. As such, HR is an important predictor of mortality that researchers believe is …

Abstract Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder with specific
dysmorphic features. Pathogenic genetic variants encoding cohesion complex subunits and …

Congenital heart disease (CHD) survivors are at risk for neurodevelopmental disability
(NDD), and recent studies identify genes associated with both disorders, suggesting that …

The human Mediator complex regulates RNA polymerase II transcription genome-wide. A
general factor that regulates Mediator function is the four-subunit kinase module, which …