Psychiatric disorders are among the most intractable enigmas in medicine. In the past 5
years, there has been unprecedented progress on the genetics of many of these conditions …

Genome-wide association studies have greatly improved our understanding of the genetic
basis of disease risk. The fact that they tend not to identify more than a fraction of the specific …

The neurodevelopmental model of schizophrenia, which posits that the illness is the end
state of abnormal neurodevelopmental processes that started years before the illness onset …

A small number of rare, recurrent genomic copy number variants (CNVs) are known to
substantially increase susceptibility to schizophrenia. As a consequence of the low fecundity …

Sequencing of gene-coding regions (the exome) is increasingly used for studying human
disease, for which copy-number variants (CNVs) are a critical genetic component. However …

Background Some copy-number variants are associated with genomic disorders with
extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents …

Genomics, Intellectual Disability, and Autism | NEJM Skip to main content NEJM Group Follow
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Copy number variants (CNVs) are major contributors to genetic disorders. We have
dissected a region of the 16p11. 2 chromosome—which encompasses 29 genes—that …

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

• Genetic and environmental influences modulating risk of substance use disorders change
developmentally and across the lifespan.• Genes involved in vulnerability to addictions …