The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …

Schizophrenia is a complex neuropsychiatric disorder with significant morbidity. Treatment
options that address the spectrum of symptoms are limited, highlighting the need for …

Abstract Recurrent 1q21. 1 copy number variants (CNVs) have been associated with a wide
spectrum of clinical features, ranging from normal phenotype to moderate intellectual …

Background Carriers of the 1q21. 1 distal and 15q11. 2 BP1-BP2 copy number variants
exhibit regional and global brain differences compared with noncarriers. However …

Genomic studies focusing on the contribution of common and rare genetic variants of
schizophrenia and bipolar disorder support the view that substantial risk is conferred …

Introduction Epilepsy, a neurological disorder characterized by recurring unprovoked
seizures due to excessive neuronal excitability, is primarily attributed to genetic factors …

Copy number variants (CNV) are shown to contribute to the etiology of several genetic
disorders. Accurate detection of CNVs on whole exome sequencing (WES) data has been a …

Abstract Background 15q11. 2 deletions and duplications have been linked to autism
spectrum disorder, schizophrenia, and intellectual disability. Recent evidence suggests that …

De novo structural variants (dnSVs) have emerged as crucial genetic factors in the context of
rare disorders. However, these variations often go undiagnosed in routine genetic screening …

Burnside–Butler syndrome is an inheritable genetic condition characterized by the partial
deletion of specific genetic material located on chromosome 15q11. Individuals diagnosed …