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

  • Oláhová, M, Peter, B, Szilagyi, Z, Diaz-Maldonado, H, Singh, M, Sommerville, EW et al.. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021;12 (1):1135. doi: 10.1038/s41467-021-21279-0. PubMed PMID:33602924 .
  • Rashvand, Z, Kahrizi, K, Najmabadi, H, Najafipour, R, Omrani, MD. Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis. Iran Biomed J. 2021;25 (2):132-9. doi: 10.29252/ibj.25.2.132. PubMed PMID:33400472 .
  • Kazemi, G, Peymani, F, Mohseni, M, Zare Ashrafi, F, Arzhangi, S, Ardalani, F et al.. Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism. Arch Iran Med. 2020;23 (12):842-847. doi: 10.34172/aim.2020.112. PubMed PMID:33356342 .
  • Diaz, J, Gérard, X, Emerit, MB, Areias, J, Geny, D, Dégardin, J et al.. YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations. Brain. 2020;143 (10):2911-2928. doi: 10.1093/brain/awaa235. PubMed PMID:33103737 .
  • 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. 2021;99 (1):187-192. 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;8 (10):e1418. doi: 10.1002/mgg3.1418. PubMed PMID:32715656 PubMed Central PMC7549592.
  • 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 PubMed Central PMC7651993.
  • 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 .
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