Genomics, Intellectual Disability, and Autism | NEJM Skip to main content NEJM Group Follow
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Subtelomeres are extraordinarily dynamic and variable regions near the ends of
chromosomes. They are defined by their unusual structure: patchworks of blocks that are …

Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

We demonstrate the successful application of exome sequencing,, to discover a gene for an
autosomal dominant disorder, Kabuki syndrome (OMIM% 147920). We subjected the …

Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …

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 …

Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …

Abstract We identified 15q13. 3 microdeletions encompassing the CHRNA7 gene in 12 of
1,223 individuals with idiopathic generalized epilepsy (IGE), which were not detected in …

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 …

Copy number variants (CNVs) are associated with many neurocognitive disorders; however,
these events are typically large, and the underlying causative genes are unclear. We …