Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach

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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Publication Details

Journal
Nöro Psikiyatri Arşivi
Published
2025-01-01
DOI
https://doi.org/10.29399/npa.29064
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach

Can Koşukçu, Engin Atlı, Hakan Gürkan, Emine İkbal Atlı et al.
Nöro Psikiyatri Arşivi
Genetics and Neurodevelopmental Disorders
article

Investigation of Genetic Aetiology in Intellectual Developmental Disorder with Trio-Whole Exome Sequencing Approach

Can Koşukçu, Engin Atlı, Hakan Gürkan, Emine İkbal Atlı, İşık Görker, Sinem Yalçıntepe, Leyla Bozatlı, Selma Demır
article en

Abstract

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.

Nöro Psikiyatri ArşiviVol. 63
Trakya University (TR), Hacettepe University (TR)
Openalex Percentile: Top 72%
Genetics and Neurodevelopmental Disorders
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