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Author

Negar Molaei

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Open access Oct 2026

Inherited metabolic disorder-related genes and mutation spectrum in Iranians: an 11-year analysis using next-generation sequencing and sanger sequencing

Findings have important implications for genetic counseling and early diagnosis, particularly in consanguineous populations, and considering treatable genes in this study could be valuable for inclusion in national screening panels and improve early clinical management.

Parnian Alagha, Negar Molaei, M. Beheshtian et al. · 0 citations
Open access Jan 2026

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

In a challenging, ES‐negative ARID cohort, GS provided an additional ~5.3% diagnostic yield by uncovering a noncoding splice alteration and a large intragenic deletion and highlight significant interpretation challenges in noncoding regions.

Ebrahim Shokouhian, Masoumeh Moslemi, Masoumeh Goleyjani Moghadam et al. · 0 citations

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