In this review, we describe and discuss neurodevelopmental phenotypes arising from rare,
high penetrance genomic variants which directly influence synaptic vesicle cycling (SVC …

Many human birth defects and neurodevelopmental disorders are caused by loss-of-function
mutations in a single copy of transcription factor (TF) and chromatin regulator genes …

Stem cell-derived organoid technology is a powerful tool that revolutionizes the field of
biomedical research and extends the scope of our understanding of human biology and …

Attention-deficit hyperactivity disorder (ADHD) is one of the most common psychiatric
neurodevelopmental disorders in children and adolescents. Although ADHD has been …

Cells | Free Full-Text | Linking Autism Risk Genes to Disruption of Cortical Development Next
Article in Journal Functional, Metabolic and Morphologic Results of Ex Vivo Donor Lung Perfusion …

Neuroinflammation is a cause of neurodevelopmental disorders such as autism spectrum
disorders and fetal alcohol syndrome. Converging lines of evidence from basic and clinical …

Autism spectrum disorder (ASD) is a disruptive neurodevelopmental disorder manifested by
abnormal social interactions, communication, emotional circuits, and repetitive behaviors …

PTEN germline mutations account for~ 0.2–1% of all autism spectrum disorder (ASD) cases,
as well as~ 17% of ASD patients with macrocephaly, making it one of the top ASD …

Abstract Recent understanding of Autism Spectrum Disorder (ASD) showed that peripheral
primary mechanosensitive neurons involved in touch sensation and central neurons affected …

Chromodomain helicase DNA binding domain (CHD) proteins, including CHD7 and CHD8,
remodel chromatin to enable transcriptional programs. Both proteins are important for proper …