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

doi:10.1176/appi.ajp.2020.20010015

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Article

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

The American journal of psychiatry - 1 Jan 2021

Chawner Samuel J R A, Doherty Joanne L, Anney Richard J L, Antshel Kevin M, Bearden Carrie E, Bernier Raphael, Chung Wendy K, Clements Caitlin C, Curran Sarah R, Cuturilo Goran, Fiksinski Ania M, Gallagher Louise, Goin-Kochel Robin P, Gur Raquel E, Hanson Ellen, Jacquemont Sebastien, Kates Wendy R, Kushan Leila, Maillard Anne M, McDonald-McGinn Donna M, Mihaljevic Marina, Miller Judith S, Moss Hayley, Pejovic-Milovancevic Milica, Schultz Robert T, Green-Snyder LeeAnne, Vorstman Jacob A, Wenger Tara L, Hall Jeremy, Owen Michael J, van den Bree Marianne B M

Abstract excerpt

OBJECTIVE: Certain copy number variants (CNVs) greatly increase the risk of autism. The authors conducted a genetics-first study to investigate whether heterogeneity in the clinical presentation of autism is underpinned by specific genotype-phenotype relationships. METHODS: This international study included 547 individuals (mean age, 12.3 years [SD=4.2], 54% male) who were ascertained on the basis of having a...

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Identifiers

PMID: 33384013
DOI: 10.1176/appi.ajp.2020.20010015
PMCID: PMC8022239

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