De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity,
frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies …

Understanding rare genetic brain disorders with overlapping neurological and psychiatric
phenotypes is of increasing importance given the potential for developing disease models …

Over the last decade, genome-wide association studies of psychiatric disorders have
identified numerous significant loci. Whereas these studies initially depended on cohorts …

Importance Rare genetic disorders modulating gene expression—as exemplified by gene
dosage disorders (GDDs)—represent a collectively common set of high-risk factors for …

Large-scale genomic investigations have just begun to illuminate the molecular genetic
contributions to major psychiatric illnesses, ranging from small-effect-size common variants …

Hundreds of genetic loci increasing risk for neuropsychiatric disorders have recently been
identified. This success, perhaps paradoxically, has posed challenges for therapeutic …

Rare genomic disorders (RGDs) confer elevated risk for neurodevelopmental psychiatric
disorders. In this era of intense genomics discoveries, the landscape of RGDs is rapidly …

Recent human genetic studies have consistently shown that mutations in the same gene or
same genomic region can increase the risk of a broad range of complex neuropsychiatric …

Importance Developmental brain disorders are a group of clinically and genetically
heterogeneous disorders characterized by high heritability. Specific highly penetrant genetic …

Genome-wide association studies have identified hundreds of robust genetic associations
underlying psychiatric disorders and provided important biological insights into disease …