Research Articles

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.

Transgenerational transmission of post-zygotic mutations suggests symmetric contribution of first two blastomeres to human germline.

Astrocyte mitochondria are a sensitive target of PCB52 and its human-relevant metabolites.

Neurobiology of cognitive abilities in early childhood autism.

Caregiver greeting to infants under 6 months already reflects emerging differences in those later diagnosed with autism.

Localization of stuttering based on causal brain lesions.

Male-dominant effects of Chd8 haploinsufficiency on synaptic phenotypes during development in mouse prefrontal cortex.

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.

Sex-biasing influence of autism-associated Ube3a gene overdosage at connectomic, behavioral, and transcriptomic levels.