This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental
disorders affecting social communication, language and behavior. The underlying cause (s) …

To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied
genomic copy-number variation in a large cohort of families with a single affected child and …

Recurrent copy number variations (CNVs) of human 16p11. 2 have been associated with a
variety of developmental/neurocognitive syndromes. In particular, deletion of 16p11. 2 is …

Summary Loss-of-function (LOF)(ie, nonsense, splice site, and frameshift) variants that lead
to disruption of gene function are likely to contribute to the etiology of neuropsychiatric …

RNA splicing plays a critical role in the programming of neuronal differentiation and,
consequently, normal human neurodevelopment, and its disruption may underlie …

Children with congenital heart disease (CHD) are at increased risk of neurodevelopmental
disorders (NDDs) and psychiatric conditions. These include cognitive, adaptive, motor …

Cell reprogramming promises to make characterization of the impact of human genetic
variation on health and disease experimentally tractable by enabling the bridging of …

Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood
vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are …

Microdeletion and microduplication copy number variations are found in patients with autism
spectrum disorder and in a number of cases they include genes that are involved in the …