The autism-linked UBE3AT485A mutant E3 ubiquitin ligase activates the Wnt/beta-catenin pathway by inhibiting the proteasome.
Simons Simplex Collection
Subdimensions of social-communication impairment in autism spectrum disorder.
Common genetic variants on 5p14.1 associate with autism spectrum disorders.
A genome-wide linkage and association scan reveals novel loci for autism.
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
The Simons Simplex Collection: a resource for identification of autism genetic risk factors.
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
A pilot study to improve venipuncture compliance in children and adolescents with autism spectrum disorders.
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
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