Article

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

2020-01-16

Abstract excerpt

<h4>Objective</h4> Certain copy number variants (CNVs) greatly increase risk of autism. We conducted a genetics-first study to investigate whether heterogeneity in the clinical presentation of autism is underpinned by specific genotype-phenotype relationships. <h4>Methods</h4> This international study included 547 individuals (12.3 years (SD=4.2), 54% male) who were ascertained on the basis of having a genetic dia...

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Literature Corpus work: 5479aded-73d0-5e97-bab3-e46bd525937a
DOI: 10.1101/2020.01.14.20017426

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