Gene discoveries in autism are biased towards comorbidity with intellectual disability

Abstract excerpt

Autism typically presents with a highly heterogeneous set of features, including frequent comorbidity with intellectual disability (ID). The overlap between these two phenotypes has confounded the accurate diagnosis and discovery of genetic factors associated with autism. We analyzed genetic variants in 2,290 individuals with autism from the Simons Simplex Collection (SSC) who have either ID or normal cognitive fu...

Topics

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• Autism Spectrum Disorder
• Child, Preschool
• DNA Copy Number Variations
• Gene Expression
• Genetic Association Studies
• Genetic Predisposition to Disease
• Intellectual Disability
• Phenotype

Identifiers and source

Literature Corpus work

9c6e36aa-8c00-520a-b0b3-ee37265751ba

DOI

10.1101/715755