Neurodevelopmental and psychiatric disorders are a highly disabling and heterogeneous
group of developmental and mental disorders, resulting from complex interactions of genetic …

Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability,
developmental delay, autism spectrum disorder, and developmental motor abnormalities …

De novo mutations (DNMs) significantly contribute to sporadic diseases, particularly in
neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome …

Neurodevelopmental disorders have a strong genetic component, but despite widespread
efforts, the specific genetic factors underlying these disorders remain undefined for a large …

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 …

Neurodevelopmental disorders (NDDs) are a genetically heterogeneous group of diseases,
affecting 1%–3% of children. Whole‐exome sequencing (WES) has been widely used as a …

Next-generation sequencing, which allows genome-wide detection of rare and de novo
mutations, is transforming neuropsychiatric disease genetics through identifying on an …

Exome sequencing has recently been elevated to the standard of care for genetic diagnostic
testing, particularly for genetically diverse and clinically heterogeneous disorders. This …

High throughput sequencing has greatly advanced disease gene identification, especially in
heterogeneous entities. Despite falling costs this is still an expensive and laborious …

Exome and genome sequencing have proven to be effective tools for the diagnosis of
neurodevelopmental disorders (NDDs), but large fractions of NDDs cannot be attributed to …