Copy-number variants of chromosome 16 region 16p11. 2 are linked to neuropsychiatric
disorders,,,,, and are among the most prevalent in autism spectrum disorders,,. Of many …

Copy number variants (CNVs) are major contributors to genetic disorders. We have
dissected a region of the 16p11. 2 chromosome—which encompasses 29 genes—that …

As key executers of biological functions, the activity and abundance of proteins are
subjected to extensive regulation. Deciphering the genetic architecture underlying this …

Developmental disabilities, including attention-deficit hyperactivity disorder (ADHD),
intellectual disability (ID), and autism spectrum disorders (ASD), affect one in six children in …

Abstract The 16p11. 2 BP4-BP5 deletion and duplication syndromes are associated with a
complex spectrum of neurodevelopmental phenotypes that includes developmental delay …

Potassium channel mutations have been described in episodic neurological diseases. We
report that K+ channel mutations cause disease phenotypes with neurodevelopmental and …

Abstract 22q11. 2 deletion syndrome (22q11DS) is a highly penetrant and common genetic
cause of neuropsychiatric disease. Here we generated induced pluripotent stem cells from …

Objective Several small case series identified KCTD7 mutations in patients with a rare
autosomal recessive disorder designated progressive myoclonic epilepsy (EPM3) and …

Mutations of the cyclin-dependent kinase-like 5 (CDKL5) and netrin-G1 (NTNG1) genes
cause a severe neurodevelopmental disorder with clinical features that are closely related to …

The psychiatric disorders autism and schizophrenia have a strong genetic component, and
copy number variants (CNVs) are firmly implicated. Recurrent deletions and duplications of …