Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.

doi:10.1111/cge.14072

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Article

Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.

Clinical genetics - 1 Jan 2022

Costa Claudia Ismania Samogy, da Silva Montenegro Eduarda Morgana, Zarrei Mehdi, de Sá Moreira Eloísa, Silva Isabela Maya Wahys, de Oliveira Scliar Marília, Wang Jaqueline Yu Ting, Zachi Elaine Cristina, Branco Elisa Varella, da Costa Silvia Souza, Lourenço Naila Cristina Vilaça, Vianna-Morgante Angela Maria, Rosenberg Carla, Krepischi Ana Cristina Victorino, Scherer Stephen W, Passos-Bueno Maria Rita

Abstract excerpt

Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration known to contribute to the etiology of autism spectrum disorder (ASD), represents a serious limitation to interpreting genetic tests, particularly for genetic counseling purposes. Chromosomal microarray analysis (CMA) was conducted in a unique collection of 144 Brazilian individuals with ASD of strong European and African...

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PMID: 34664255
DOI: 10.1111/cge.14072

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