To understand the genetic heterogeneity underlying developmental delay, we compared
copy number variants (CNVs) in 15,767 children with intellectual disability and various …

Copy number variants (CNVs) are associated with many neurocognitive disorders; however,
these events are typically large, and the underlying causative genes are unclear. We …

We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …

There are thousands of rare human disorders that are caused by single deleterious, protein-
coding genetic variants. However, patients with the same genetic defect can have different …

Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with
complex genetic origins,,,. Previous studies focusing on candidate genes or genomic …

Copy number variants (CNVs) contribute to human genetic and phenotypic diversity.
However, the distribution of larger CNVs in the general population remains largely …

Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely
genetic in origin,. The extensive genetic heterogeneity of this disorder requires a genome …

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …

Human copy number variants (CNVs) account for genome variation an order of magnitude
larger than single-nucleotide polymorphisms. Although much of this variation has no …

Rare copy-number variants (CNVs) have been implicated in autism and intellectual
disability. These variants are large and affect many genes but lack clear specificity toward …