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

Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …

Increased male prevalence has been repeatedly reported in several neurodevelopmental
disorders (NDs), leading to the concept of a "female protective model." We investigated the …

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …

Balanced chromosomal abnormalities (BCAs) represent a relatively untapped reservoir of
single-gene disruptions in neurodevelopmental disorders (NDDs). We sequenced BCAs in …

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

Background Some copy-number variants are associated with genomic disorders with
extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents …

Background Whole-exome sequencing can provide insight into the relationship between
observed clinical phenotypes and underlying genotypes. Methods We conducted a …

Gene duplication is an important source of phenotypic change and adaptive evolution. We
leverage a haploid hydatidiform mole to identify highly identical sequences missing from the …

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …