Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental
disorders with large genetic components, but identification of pathogenic genes has …

Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

Importance Whole-genome sequencing (WGS) is increasingly applied in clinical medicine
and is expected to uncover clinically significant findings regardless of sequencing indication …

The rapid expansion of next‐generation sequencing has yielded a powerful array of tools to
address fundamental biological questions at a scale that was inconceivable just a few years …

The identification of the genetic components of autism spectrum disorders (ASDs) has
advanced rapidly in recent years, particularly with the demonstration of de novo mutations …

Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

Behavioral Genetics, Fifth Edition provides an engaging and clear overview of human and
animal behavioral genetics that is designed to introduce students in the behavioral …

Cardiovascular disease encompasses a range of conditions extending from myocardial
infarction to congenital heart disease, most of which are heritable. Enormous effort has been …

By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with
typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As …

Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic
heterogeneity has proven challenging for gene discovery. Studies of primarily simplex …