Author

M. Isaza-Ruget

2 papers indexed here

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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. · International Journal of Mol... · 0 citations

Open access Aug 2026

Exome-based cancer driver gene comprehensive testing can provide a genetic diagnosis for individuals with triple-negative breast cancer

Triple-negative breast cancer (TNBC) is characterized by aggressive behaviour, high tumor heterogeneity, and an increased likelihood of recurrence and early metastasis. These factors hinder successful treatment. Genetic diagnosis enables personalized clinical recommendations and treatment options. The objective of this...

D. Alzate, A. Y. Sánchez, Yovana Pacheco et al. · PLoS ONE · 0 citations