Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights.

doi:10.1002/ajmg.a.63915

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Article

Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights.

American journal of medical genetics. Part A - 1 Apr 2025

Ghalamkari Safoura, Mianesaz Hamidreza, Chitsaz Ahmad, Ghazavi Mohammadreza, Salehi Mansoor

Abstract excerpt

Intellectual disability (ID) is a leading cause for referral to genetic services, with the most severe cases typically attributed to single genetic defects. This study aimed to evaluate the diagnostic yield of cost-effective proband-only exome sequencing for individuals diagnosed with ID within the Iranian population for the first time where a high rate of parental consanguinity exists. A total of 99 unrelated...

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PMID: 39655768
DOI: 10.1002/ajmg.a.63915

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