Understanding population structure is crucial for designing and interpreting human genetic studies. This is of particular importance for Iran as a large, ethnically diverse country whose population has often been treated as a genetically homogenous entity. Here, we synthesize published literature on the genetic structu...
Somayeh Alinaghi, F. Zare Ashrafi, Zohreh Elahi et al.· European Journal of Human Ge...· 0 citations
Inherited metabolic disorders (IMDs) are a heterogeneous group of rare diseases caused by genetic variants that disrupt key metabolic pathways. This retrospective study primarily aimed to characterize the molecular and genetic spectrum of IMD-related genes and assess the diagnostic yield of next-generation sequen...
Parnian Alagha, Negar Molaei, M. Beheshtian et al.· Orphanet Journal of Rare Dis...· 0 citations
The second description of POLR3A-related CMT is presented and the role of RNA polymerase III dysfunction in peripheral neuropathy is supported and the molecular and geographical spectrum of POLR3A-related neuropathy is expanded.
Masoumeh Goleyjani Moghadam, Ebrahim Shokouhian, M. Soveyzi et al.· Molecular Biology Reports· 0 citations
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