The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major
challenge. Recent advances in genetic screening and systems biology approaches have …

Cortical regionalization develops via genomic patterning along anterior-posterior (AP) and
dorsal-ventral (DV) gradients. Here, we find that normative AP and DV genomic patterning of …

The cadherin-catenin complex in central neurons is associated with a variety of cytosolic
partners, collectively called catenins. The p120ctn members are a family of catenins that are …

CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions,
including the maintenance of cell–cell junctions, regulation of the epithelial-mesenchymal …

Background Neurodevelopmental disorders such as autism spectrum disorder (ASD) may
be caused by alterations in genes encoding proteins that are involved in synapse formation …

Deletion of the short arm of chromosome 5 (5p‐) is associated with phenotypic features
including a cat‐like cry in infancy, dysmorphic facial features, microcephaly, and intellectual …

Currently, protein‐coding de novo variants and large copy number variants have been
identified as important for~ 30% of individuals with autism. One approach to identify relevant …

Introduction Handedness is a conspicuous characteristic in human behavior, with a
worldwide proportion of approximately 90% of people preferring to use the right hand for …

Background With the expanding use of next-gen sequencing (NGS) to diagnose the
thousands of rare Mendelian genetic diseases, it is critical to be able to interpret individual …

Background The lack of effective understanding of the pain mechanism of McCune–Albright
syndrome (MAS) has made the treatment of pain in this disease a difficult clinical challenge …