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Article

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.

Human mutation - 1 Jan 2026

Shokouhian Ebrahim, Moslemi Masoumeh, Moghadam Masoumeh Goleyjani, Molaei Negar, Alagha Parnian, Reshadmanesh Azadeh, Arzhangi Sanaz, Ghodratpour Fatemeh, Celik Mert, Kadioglu Ilayda Selcen, Edizadeh Masoud, Akbari Mohammad Reza, Kahrizi Kimia, Najmabadi Hossein

Abstract excerpt

Intellectual disability (ID) affects approximately 1%-3% of the population and spans diverse clinical presentations with marked genetic heterogeneity, especially in consanguineous populations where autosomal-recessive ID is common. Despite advances in diagnostic methods, ~50% of individuals with ID remain without a molecular diagnosis. Genome sequencing (GS) can detect variant classes poorly captured by other...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42388363
DOI: 10.1155/humu/4623457
PMCID: PMC13319903

Genes

ATP8A2
CNTNAP2
NCOR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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