Author

Parnian Alagha

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Review Oct 2026

Expanding the genetic landscape of MYO15A: Discovery of a novel splice-region variant in an Iranian family and insights into splicing variants.

BACKGROUND Variants in MYO15A are an important cause of autosomal recessive non-syndromic sensorineural hearing loss (DFNB3). Non-canonical splicing variants remain challenging to interpret without transcript-level evidence. METHODS We investigated a consanguineous Iranian family affected by congenital profound non-s...

Tohid Naghdi, Parnian Alagha, M. Yazdanian et al. · Hearing Research · 0 citations

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. · Orphanet Journal of Rare Dis... · 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. · Human Mutation · 0 citations