Genetic Heterogeneity in Autism Spectrum Disorder: Diagnostic Yield, Recurrent Genes, and Rare Variant-Phenotype Associations from Whole-Exome Sequencing.

doi:10.3390/ijms27156901

Article

Genetic Heterogeneity in Autism Spectrum Disorder: Diagnostic Yield, Recurrent Genes, and Rare Variant-Phenotype Associations from Whole-Exome Sequencing.

International journal of molecular sciences - 1 Aug 2026

Gaouzi Zainab, Spoto Giulia, Polito Francesca, Festali Rihab, Gasparo Irene, Licitri Laura, Mirabello Anna Maria, Romano Silvia, Macaione Vincenzo, Dini Nouzha, El Fahime Elmostafa, Boutayeb Saber, Kriouile Yamna, Diawara Idrissa, di Rosa Gabriella, Aguennouz Mhammed

Abstract excerpt

Autism spectrum disorder (ASD) is genetically heterogeneous, involving rare and common variants that disrupt neurodevelopmental pathways. To explore this complexity, we performed whole-exome sequencing in children with ASD. Clinical phenotypes were systematically recorded, and severity was classified according to DSM-5 criteria. Variants were interpreted using ACMG guidelines, with recurrence analysis to identify...

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Genetic Heterogeneity in Autism Spectrum Disorder: Diagnostic Yield, Recurrent Genes, and Rare Variant-Phenotype Associations from Whole-Exome Sequencing.

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