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Diego Alejandro Rodríguez Gutiérrez

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Open access Oct 2026

Phenotypic Complexity and Diagnostic Utility of Exome Sequencing in ASD: Real-World Insights from Colombia

Autism spectrum disorder (ASD) is a genetically heterogeneous condition; however, genomic data from Latin American populations remain limited. We investigated the molecular and phenotypic landscape of ASD in 916 Colombian patients who underwent whole-exome sequencing (WES) between 2022 and 2025. Clinical and genomic da...

Diego Alejandro Rodríguez Gutiérrez, Ronald Cardenas-Prieto, Paula Rueda-Gaitán et al. · 0 citations

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