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 …

Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …

Importance Autism spectrum disorder (ASD) is a highly prevalent disorder, and community
psychiatrists are likely to treat many individuals with ASD during their clinical practice. This …

Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as
1: 7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive elements at …

Enlargement of the aorta is an important risk factor for aortic aneurysm and dissection, a
leading cause of morbidity in the developed world. Here we performed automated extraction …

The 14-3-3 proteins are a family of highly conserved, multifunctional proteins that are highly
expressed in the brain during development. Cumulatively, the seven 14-3-3 isoforms make …

Williams syndrome has been variably termed Williams–Beuren syndrome, idiopathic
hypercalcemia, and supravalvar aortic stenosis syndrome. It is estimated to occur in …

Objectives Embryonic numerical and structural chromosomal abnormalities are the most
common cause of early pregnancy loss. However, the role of submicroscopic copy‐number …

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 …