Failure of normal brain development leads to mental retardation or autism in about 3% of
children. Many genes integral to pathways by which synaptic modification and the …

We previously estimated that 42% of patients with severe developmental disorders carry
pathogenic de novo mutations in coding sequences. The role of de novo mutations in …

Neuronal activity induces the post-translational modification of synaptic molecules, promotes
localized protein synthesis within dendrites and activates gene transcription, thereby …

The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

Adoption studies can provide direct evidence for the independent effects of family
environment and heredity that are always confounded in intact nuclear families1–3. When …

Battle of the sexes may set the brain | Nature Skip to main content Thank you for visiting
nature.com. You are using a browser version with limited support for CSS. To obtain the best …

We define neurodevelopment as the dynamic inter-relationship between genetic, brain,
cognitive, emotional and behavioural processes across the developmental lifespan …

IN his original description of infantile autism, Kanner suggested an “inborn defect”, because
symptoms were often present from early infancy. Despite the rarity of a family history of …

In genetic disorders associated with premature neuronal death, symptoms may not appear
for years or decades. This delay in clinical onset is often assumed to reflect the occurrence …

One strategy for deciphering inherited neurological disease is to examine the expression of
individual genes controlling the assembly and physiology of specific cell groups within the …