More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …

The nervous system—in particular, the brain and its cognitive abilities—is among humans'
most distinctive and impressive attributes. How the nervous system has changed in the …

Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …

We present a high-quality genome sequence of a Neanderthal woman from Siberia. We
show that her parents were related at the level of half-siblings and that mating among close …

Creatine (Cr) is a ubiquitous molecule that is synthesized mainly in the liver, kidneys, and
pancreas. Most of the Cr pool is found in tissues with high-energy demands. Cr enters target …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by social
communication deficits and other behavioral abnormalities. The three-chamber social …

Autism spectrum disorders (ASD) is a heterogenous group of neurodevelopmental disorders
characterized by problems in social interaction and communication as well as the presence …

We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …

Autism spectrum disorder is typical of the majority of neuropsychiatric syndromes in that it is
defined by signs and symptoms, rather than by aetiology. Not surprisingly, the causes of this …