Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition
characterized by social communication challenges and repetitive behaviors. Recent …

Copy number variations (CNVs) in the Neurexin 1 (NRXN1) gene, which encodes a
presynaptic protein involved in neurotransmitter release, are some of the most frequently …

Autism spectrum disorder (ASD) is characterized by a complex polygenic background, but
with the unique feature of a subset of cases (~ 15%‐30%) presenting a rare large‐effect …

Background NRXN1 deletions are identified as one of major rare risk factors for autism
spectrum disorder (ASD) and other neurodevelopmental disorders. ASD has 30% co …

Background Rare genetic variants contribute to the etiology of both autism spectrum
disorder (ASD) and schizophrenia (SCZ). Most genetic studies limit their focus to likely gene …

Growing genetic evidence is converging in favor of common pathogenic mechanisms for
autism spectrum disorders (ASD), intellectual disability (ID or mental retardation) and …

Increasing evidence suggests that abnormal synaptic function leads to neuronal
developmental disorders and is an important component of the etiology of autism spectrum …

Autism is a brain developmental disorder characterized by impaired social interaction and
communication, as well as restricted and repetitive behaviors. The neurexin-1 (NRXN1) …

The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2
(NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important …

We generated human iPS derived neural stem cells and differentiated cells from healthy
control individuals and an individual with autism spectrum disorder carrying bi-allelic …