We report the identification of a recurrent, 520-kb 16p12. 1 microdeletion associated with
childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases …

Background Deletion and the reciprocal duplication in 16p11. 2 were recently associated
with autism and developmental delay. Method We indentified 27 deletions and 18 …

Obesity is a highly heritable and genetically heterogeneous disorder. Here we investigated
the contribution of copy number variation to obesity in 300 Caucasian patients with severe …

There is substantial evidence for partial overlap of genetic influences on schizophrenia and
bipolar disorder, with family, twin, and adoption studies showing a genetic correlation …

Recent studies are beginning to paint a clear and consistent picture of the impairments in
psychological and cognitive competencies that are associated with microdeletions in …

Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable disorder,
but specific genetic factors underlying risk remain elusive. To assess the role of structural …

This article introduces the reader to the genetics of schizophrenia: its background; the status
of a variety of genetic findings; new developments (which are many since the last review) 1; …

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

Background Duplications and deletions in the human genome can cause disease or
predispose persons to disease. Advances in technologies to detect these changes allow for …

Copy number variants (CNVs) contribute to human genetic and phenotypic diversity.
However, the distribution of larger CNVs in the general population remains largely …