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Article

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.

Scientific reports - 21 Feb 2020

Bacchelli Elena, Cameli Cinzia, Viggiano Marta, Igliozzi Roberta, Mancini Alice, Tancredi Raffaella, Battaglia Agatino, Maestrini Elena

Abstract excerpt

Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex and heterogeneous genetic etiology. While a proportion of ASD risk is attributable to common variants, rare copy-number variants (CNVs) and protein-disrupting single-nucleotide variants (SNVs) have been shown to significantly contribute to ASD etiology. We analyzed a homogeneous cohort of 127 ASD Italian families genotyped with the...

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Identifiers

PMID: 32081867
DOI: 10.1038/s41598-020-59922-3
PMCID: PMC7035424

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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