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  1. No Access

    Article

    Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia

    Whole-exome sequencing (WES) is an excellent method for the diagnosis of diseases of uncertain or heterogeneous genetic origin. However, it has limitations for detecting structural variations such as InDels, w...

    Fereshteh Maryami, Elham Davoudi-Dehaghani… in Molecular Genetics and Genomics (2023)

  2. Article

    Open Access

    Identifying and predicting the pathogenic effects of a novel variant inducing severe early onset MMA: a bioinformatics approach

    Methylmalonic acidemia (MMA) is a rare metabolic disorder resulting from functional defects in methylmalonyl-CoA mutase. Mutations in the MMAB gene are responsible for the cblB type of vitamin B12-responsive MMA.

    Fereshteh Maryami, Elham Rismani, Elham Davoudi-Dehaghani, Nasrin Khalesi… in Hereditas (2023)

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  3. No Access

    Article

    GJB2 c.−23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss

    GJB2 mutation analysis is used routinely as a first step in genetic testing for autosomal recessive non-syndromic sensorineural hearing loss. Although most GJB2 mutations can be detected ...

    Sirous Zeinali, Elham Davoudi-Dehaghani… in European Archives of Oto-Rhino-Laryngology (2015)

  4. No Access

    Article

    Mitochondrial DNA sequence diversity in three ethnic populations from the South-west Iran: a preliminary study

    To investigate the genetic structure of human populations in the South-west region of Iran, mitochondrial first hypervariable DNA sequences were obtained from 50 individuals representing three different ethnic...

    Elham Davoudi-Dehaghani, Ali Mohammad Foroughmand, Babak Saffari… in Frontiers in Biology (2011)