Author

B. Lombardo

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Open access Aug 2026

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

Increased CNV burden, in both number and cumulative genomic size, co-occurred more frequently in individuals with severe phenotypes, including ASD with intellectual disability, epilepsy, and broader NDDs, reflecting a real-world clinical setting rather than a prospectively recruited research cohort.

M. R. Di Iorio, Ilaria La Monica, Antonio Imperatore et al. · International Journal of Mol... · 0 citations