Preclinical models of neurodevelopmental disorders typically use single inbred mouse
strains, which fail to capture the genetic diversity and symptom heterogeneity that is common …

The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental
gene networks implicated in autism. We examined the impact of germline heterozygous …

Background Chromodomain helicase DNA-binding protein 8 (Chd8) is a high-confidence
risk gene for autism spectrum disorder (ASD). However, how Chd8 haploinsufficiency …

Truncating CHD8 mutations are amongst the highest confidence risk factors for autism
spectrum disorder (ASD) identified to date. Here, we report that Chd8 heterozygous mice …

Mutations in the chromodomain helicase DNA-binding 8 (CHD8) gene are a frequent cause
of autism spectrum disorder (ASD). While its phenotypic spectrum often encompasses …

Background CHD8 haploinsufficiency causes autism and macrocephaly with high
penetrance in the human population. Chd8 heterozygous mice exhibit relatively subtle brain …

Research with rodents is crucial for expanding our understanding of genetic and
environmental risk factors for neurodevelopmental disorders (NDD). However, there is …

Background Animal models for neurodevelopmental disorders (NDD) generally rely on a
single genetic mutation on a fixed genetic background. Recent human genetic studies …

Whole-exome sequencing of autism spectrum disorder (ASD) probands and unaffected
family members has identified many genes harboring de novo variants suspected to play a …

Autism spectrum disorder (ASD) is a heterogeneous disease, but genetically defined models
can provide an entry point to studying the molecular underpinnings of this disorder. We …