A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

Schizophrenia remains a major burden on patients and society. The dopamine hypothesis
attempts to explain the pathogenic mechanisms of the disorder, and the …

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 …

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …

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

Characterized by a combination of abnormalities in language, social cognition and mental
flexibility, autism is not a single disorder but a neurodevelopmental syndrome commonly …

To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied
genomic copy-number variation in a large cohort of families with a single affected child and …

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

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