Next-generation sequencing (NGS) is now more accessible to clinicians and researchers.
As a result, our understanding of the genetics of neurodevelopmental disorders (NDDs) has …

Intellectual disability (ID) has a prevalence of~ 2–3% in the general population, having a
large societal impact. The underlying cause of ID is largely of genetic origin; however …

Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …

Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …

Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely
genetic in origin,. The extensive genetic heterogeneity of this disorder requires a genome …

The idea that disturbances occurring early in brain development contribute to the
pathogenesis of schizophrenia, often referred to as the neurodevelopmental hypothesis, has …

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

Increased male prevalence has been repeatedly reported in several neurodevelopmental
disorders (NDs), leading to the concept of a" female protective model." We investigated the …

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have
been reported at 9q33. 1 by genome-wide studies in a few individuals with …