ArticleNoro psikiyatri arsivi2026
Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach.
Article in Noro psikiyatri arsivi, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Nonsense-mediated mRNA decay and associated splicing patterns in neurodevelopmental disorders.Frontiers in molecular biosciences · 2026Review
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Authors and funding
8 authors.
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Abstract
Introduction: Intellectual development disorder (IDD) is a heterogeneous condition, and genetic studies are essential to unravel the underlying cellular pathway for brain development and functioning in its etiology. This study aimed to investigate the possible genetic alterations contributing to IDD by performing next generation sequencing (NGS) in affected individuals and their parents, with a particular focus on the discovery of novel disease-associated genes. Methods: Cases diagnosed with IDD according to DSM-5 criteria, who had normal results in conventional cytogenetic analyses, array comparative genomic hybridization and Fragile X ( Results: We detected pathogenic and/or likely pathogenic variations in Conclusion: Trio-WES provided a substantial contribution to the molecular diagnosis of IDD. These findings highlight the utility of whole exome sequencing as a powerful tool for uncovering novel disease-associated genes.
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