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Article

Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis.

Clinical genetics - 1 Jun 2025

Fattahi Zohreh, Shokouhian Ebrahim, Peymani Fatemeh, Babanejad Mojgan, Beheshtian Maryam, Edizadeh Masoud, Molaei Negar, Alagha Parnian, Ghodratpour Fatemeh, Keshavarzi Fatemeh, Moghadam Masoumeh Goleyjani, Arzhangi Sanaz, Kahrizi Kimia, Najmabadi Hossein

Abstract excerpt

Recent advances in next generation sequencing (NGS) have positioned whole exome sequencing (WES) as an efficient first-tier method in genetic diagnosis. However, despite the diagnostic yield of 35%-50% in intellectual disability (ID) many patients still remain undiagnosed due to inherent limitations and bioinformatic short-comings. In this study, we reanalyzed WES data from 159 Iranian families showing...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39748273
DOI: 10.1111/cge.14692

Genes

ACTR5
AKTIP
CDC25B
MAZ
MIX23
SERPINB12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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