Author

I. Diawara

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Open access Aug 2026

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

Overall, this integrative WES study provides clinically actionable diagnoses, highlights recurrent genes, and uncovers phenotype-specific signals, supporting convergent pathways with gene-level heterogeneity.

Zainab Gaouzi, Giulia Spoto, F. Polito et al. · International Journal of Mol... · 0 citations