Autism spectrum disorders (ASD) is a heterogeneous group of neurodevelopmental
disorders characterized by synaptic dysfunction and defects in dendritic spine morphology …

This perspective focuses on advances in genome technology over the last 25 years and
their impact on germline variant discovery within the field of human genetics. The field has …

Gene Ontology analyses of autism spectrum disorders (ASD) risk genes have repeatedly
highlighted synaptic function and transcriptional regulation as key points of convergence …

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked
to neurological deficits, our understanding of the underlying molecular and cellular …

Background With the increasing number of genomic sequencing studies, hundreds of genes
have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery …

Genetic variants in chromatin regulators are frequently found in neurodevelopmental
disorders, but their effect in disease etiology is rarely determined. Here, we uncover and …

Gain-of-function (GOF) pathogenic variants in the potassium channels KCNQ2 and KCNQ3
lead to hyperexcitability disorders such as epilepsy and autism spectrum disorders …

Autism spectrum disorder is an increasingly prevalent neurodevelopmental disorder in the
world today, with an estimated 2% of the population being affected in the USA. A major …

Advancing from gene discovery in autism spectrum disorders (ASDs) to the identification of
biologically relevant mechanisms remains a central challenge. Here, we perform parallel in …

Synaptopathies are a class of neurodevelopmental disorders caused by modification in
genes coding for synaptic proteins. These proteins oversee the process of …