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• W3206988708 abstract "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 ancestries. Rare CNVs were detected in 39 patients: 41 of unknown significance (VUS), four pathogenic and one likely pathogenic CNVs (clinical yield of 4.1%; 5/122). Based on gene content and recurrence in three large cohorts [a Brazilian neurodevelopmental disorder cohort, the autism MSSNG cohort, and the Canadian-based Centre for Applied Genomics microarray database], this work strengthened the pathogenicity of 14 genes (FAT1, CAMK4, BIRC6, DPP6, CSMD1, CTNNA3, CDH8/CDH11, CDH13, OR1C1, CNTN6, CNTNAP4, FGF2 and PTPRN2) within 14 CNVs. Notably, enrichment of cell adhesion proteins to ASD etiology was identified (p < 0.05), highlighting the importance of these gene families in the etiology of ASD." @default.
• W3206988708 created "2021-10-25" @default.
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• W3206988708 date "2021-11-15" @default.
• W3206988708 modified "2023-10-18" @default.
• W3206988708 title "Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes" @default.
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• W3206988708 doi "https://doi.org/10.1111/cge.14072" @default.
• W3206988708 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34664255" @default.
• W3206988708 hasPublicationYear "2021" @default.
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