Genome-wide association studies have identified many variants that each affects multiple
traits, particularly across autoimmune diseases, cancers and neuropsychiatric disorders …

Comparisons of human genomes show that more base pairs are altered as a result of
structural variation—including copy number variation—than as a result of point mutations …

Copy number variants (CNV) are established risk factors for neurodevelopmental disorders
with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk …

Epileptic encephalopathies are a devastating group of epilepsies with poor prognosis, of
which the majority are of unknown etiology. We perform targeted massively parallel …

Rare genetic variants contribute to complex disease risk; however, the abundance of rare
variants in human populations remains unknown. We explored this spectrum of variation by …

Genomics, Intellectual Disability, and Autism | New England Journal of Medicine Skip to main
content The New England Journal of Medicine homepage Advanced Search SEARCH …

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 …

Copy number variation (CNV) has been found to play an important role in human disease.
Next‐generation sequencing technology, including whole‐genome sequencing (WGS) and …

Technological advances have paved the way for accelerated genomic discovery and are
bringing precision medicine clearly into view. Epilepsy research in particular is well suited to …

Objective: Rare copy number variants (CNVs)—deletions and duplications—have recently
been established as important risk factors for both generalized and focal epilepsies. A …