Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.

doi:10.3390/ijms27167434

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Article

Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.

International journal of molecular sciences - 20 Aug 2026

Di Iorio Maria Rosaria, La Monica Ilaria, Imperatore Antonio, Sica Antonia, Iorio Valerio, Pastore Lucio, Lombardo Barbara

Abstract excerpt

Autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDDs) are characterized by a complex genetic architecture involving both rare high-impact variants and cumulative low-effect alterations. The contribution of borderline copy number variants (CNVs) to disease susceptibility and phenotypic variability remains incompletely understood. Reflecting a real-world clinical setting rather than a...

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PMID: 42653435
DOI: 10.3390/ijms27167434
PMCID: PMC13513768

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