We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …

Developmental regression occurs in approximately one-third of children with autism
spectrum disorder (ASD). There is a strong genetic influence in ASD and hundreds of genes …

Early infantile epileptic encephalopathy (EIEE) is a devastating epilepsy syndrome with
onset in the first months of life. Although mutations in more than 50 different genes are …

With the advent and widespread adoption of high-throughput DNA sequencing, genetic
discoveries in neurodevelopmental disorders (NDDs) are advancing very rapidly. The …

We present the largest exome sequencing study to date focused on rare variation in autism
spectrum disorder (ASD)(n= 35,584). Integrating de novo and case-control variation with an …

Purpose To investigate the effect of different DEAF1 variants on the phenotype of patients
with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro …

This study investigated the genetic underpinnings of autism spectrum disorder (ASD) in a
Middle Eastern cohort in Qatar using exome sequencing. The study identified six candidate …

Introduction: Autism spectrum disorder (ASD) is characterized by aberrations in social
interaction and communication associated with repetitive behaviors and interests, with …

Microcephaly is a frequent feature of neurodevelopmental disorders (NDDs). Our study
presents the heterogeneous spectrum of genetic disorders in patients with microcephaly …

ABSTRACT STAU2 is a double-stranded RNA-binding protein enriched in the nervous
system. During asymmetric divisions in the developing mouse cortex, STAU2 preferentially …