The nervous system—in particular, the brain and its cognitive abilities—is among humans'
most distinctive and impressive attributes. How the nervous system has changed in the …

During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …

Single-cell sequencing methods have emerged as powerful tools for identification of
heterogeneous cell types within defined brain regions. Application of single-cell techniques …

Autism is an etiologically and clinically heterogeneous group of disorders, diagnosed solely
by the complex behavioral phenotype. On the basis of the high-heritability index, geneticists …

The autism spectrum disorders (ASD) are characterized by impairments in social interaction
and stereotyped behaviors. For the majority of individuals with ASD, the causes of the …

Copy number variants affect both disease and normal phenotypic variation, but those lying
within heavily duplicated, highly identical sequence have been difficult to assay. By …

Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental
disorders with a complex inheritance pattern. While many rare variants in synaptic proteins …

Epilepsy is one of the most common neurological disorders in humans with a prevalence of
1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal …

Introduction The dramatic events of meiotic recombination culminate in the exchange of
genetic information between parental chromosomes and ensure the production of …

Copy number variants (CNVs) play an important role in human disease and population
diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …