Aug 2026· Journal of Autism and Developmental Disorders· 1 citation· 22 references
Medicine
TL;DR
The identification of GFAP variants raises the hypothesis that astrocytic dysfunction may play a role in a subset of ASD cases, though this finding requires independent replication and functional validation.
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
Epilepsy ranks among the most prevalent neurological disorders globally, with a substantial proportion of cases, particularly in pediatric populations, attributed to genetic etiologies. This study provides the first molecular characterization of suspected genetic epilepsy in a pediatric cohort from the Moldova region o...
L. Butnariu, Ecaterina Grigore, T. Schreiner et al.· International Journal of Mol...· 0 citations
CMA identified clinically relevant recurrent CNVs at neurodevelopmental loci even in a clinically nonsyndromic ASD cohort, highlighting the substantial influence of clinical and phenotypic selection on the diagnostic contribution of CMA.
Willian de Souza Santos, B. C. de Figueiredo, R. G. Mello et al.· Diagnostics· 0 citations
This study provides the first comprehensive genomic overview of ASD in a large Brazilian cohort, reinforcing the critical need to include diversely admixed populations in genomic research to expand the understanding of ASD architecture and improve diagnostic strategies in resource-limited settings.
Gabriele da Silva Campos, C. I. S. Costa, J. Wang et al.· Genetics and Molecular Biolo...· 0 citations
WES can yield a definitive genetic diagnosis in a subset of patients, enabling individualized management, facilitating genetic counseling, and reducing the need for further diagnostic investigations.
E. S. Herini, A. Triono, K. Iskandar et al.· Neurogenetics· 0 citations
The results suggest that single‐gene causes are rare in adults with TLE, consistent with previous reports indicating a low diagnostic yield of presurgical genetic testing and further support a predominantly polygenic architecture of TLE.
Antonia P. Pirker, Margot Ernst, Matias Wagner et al.· Epilepsia Open· 0 citations
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