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Kimia Kahrizi

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Kimia Kahrizi

Professor, Pediatrics and Clinical Genetics, Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Iran

Email: kkahrizi@uswr.ac.ir

Dr. Kahrizi is Professor of Pediatrics, Clinical Genetics and the head of the Clinical Genetic Division at the GRC. She has led  a number of  valuable research projects in  neuromuscular disorders such as Myotonic Dystrophy, Limb Girdle Muscular dystrophy, Duchene Muscular Dystrophy (DMD) and CongenitalMuscular Dystrophy (CMD). She has also been involved in several other important projects such as Hereditary Hearing Loss (HHL) and Mental Retardation.She is an expert in identifying dysmorphic patients as well as novel syndromes. Recently, she has focused her primary research on the characterization of brain malformations and syndromic microcephalic families

Recent Publications

  • Beheshtian, M, Akhtarkhavari, T, Mehvari, S, Mohseni, M, Fattahi, Z, Abedini, SS et al.. Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clin. Genet. 2020; :. doi: 10.1111/cge.13845. PubMed PMID:32895917 .
  • Mehvari, S, Larti, F, Hu, H, Fattahi, Z, Beheshtian, M, Abedini, SS et al.. Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Mol Genet Genomic Med. 2020; :e1418. doi: 10.1002/mgg3.1418. PubMed PMID:32715656 .
  • Taghizadeh, S, Vazehan, R, Beheshtian, M, Sadeghinia, F, Fattahi, Z, Mohseni, M et al.. Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum. Arch Iran Med. 2020;23 (7):426-433. doi: 10.34172/aim.2020.39. PubMed PMID:32657593 .
  • Mehrjoo, Z, Kahrizi, K, Mohseni, M, Akbari, M, Arzhangi, S, Jalalvand, K et al.. Limbic System Associated Membrane Protein Mutation in an Iranian Family Diagnosed with Ménière's Disease. Arch Iran Med. 2020;23 (5):319-325. doi: 10.34172/aim.2020.21. PubMed PMID:32383616 .
  • Mohseni, M, Akbari, M, Booth, KT, Babanejad, M, Azaiez, H, Ardalani, F et al.. When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS). J. Hum. Genet. 2020;65 (7):609-617. doi: 10.1038/s10038-020-0740-z. PubMed PMID:32231217 .
  • Cheraghi, S, Moghbelinejad, S, Najmabadi, H, Kahrizi, K, Najafipour, R. A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. Eur J Med Genet. 2020;63 (4):103849. doi: 10.1016/j.ejmg.2020.103849. PubMed PMID:31953236 .
  • Ataei, R, Khoshbakht, S, Beheshtian, M, Abedini, SS, Behravan, H, Esmaeili Dizghandi, S et al.. Contribution of Iran in Elucidating the Genetic Causes of Autosomal Recessive Intellectual Disability. Arch Iran Med. 2019;22 (8):461-471. . PubMed PMID:31679349 .
  • Mitani, T, Punetha, J, Akalin, I, Pehlivan, D, Dawidziuk, M, Coban Akdemir, Z et al.. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am. J. Hum. Genet. 2019;105 (5):1005-1015. doi: 10.1016/j.ajhg.2019.09.017. PubMed PMID:31630790 PubMed Central PMC6848995.
  • Mehrjoo, Z, Fattahi, Z, Beheshtian, M, Mohseni, M, Poustchi, H, Ardalani, F et al.. Distinct genetic variation and heterogeneity of the Iranian population. PLoS Genet. 2019;15 (9):e1008385. doi: 10.1371/journal.pgen.1008385. PubMed PMID:31550250 PubMed Central PMC6759149.
  • Babanejad, M, Zarandy, MM, Nikzat, N, Bazazzadegan, N, Arzhangi, S, Mohseni, M et al.. G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma. Int. J. Pediatr. Otorhinolaryngol. 2019;126 :109607. doi: 10.1016/j.ijporl.2019.109607. PubMed PMID:31419744 .
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