Genetics

Common functional variants of the glutamatergic system in autism spectrum disorder with high and low intellectual abilities.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders.

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Polygenic scores for empathy associate with posttraumatic stress severity in response to certain traumatic events.

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder.

Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.

DNA methylation signature associated with Bohring-Opitz syndrome: A new tool for functional classification of variants in ASXL genes.

Mobile elements in human population-specific genome and phenotype divergence.

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.