A quarter of autistic people carry rare genetic variations linked to autism and other neurodevelopmental conditions, but these mutations alone may not be enough to lead to autism.
Spectrum: Autism Research News
Tag: rare variants
Common and rare variants in or near autism-associated genes can have opposite effects on cognition.
The first animal model of MYT1L syndrome suggests that fast-maturing neurons lead to the unusually small brains, social deficits and other traits seen in people with the condition.
When Holly Stessman isn’t probing autism genes, she is tending to her flock of chickens or seeking out the next great sci-fi movie.
A large, whole-genome sequencing study of families yields insights into ultra-rare genetic variants that contribute to autism.
Cross-species comparisons can help make sense of subtle genetic variants in people with autism and identify hundreds of new genes that may contribute to the condition.
A genetic therapy and an existing drug both restore typical brain size in mice missing DYRK1A, a top autism candidate gene, in the cerebral cortex, a new study shows. The animals typically have smaller brains than controls.
Mutations in POGZ, a gene strongly linked to autism, lead to a signaling imbalance in multiple brain regions in mice, according to two new studies.