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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

  • Ghasemi, M, Mohseni, M, Fattahi, Z, Edizadeh, M, Beheshtian, M, Keshavarzi, F et al.. Haplogroup Structure and Genetic Variation Analyses of Mitochondrial Genome SNPs in the Iranian Population. Arch Iran Med. 2025;28 (3):140-148. doi: 10.34172/aim.33639. PubMed PMID:40298006 PubMed Central PMC12038801.
  • Bazazzadegan, N, Babanejad, M, Banihashemi, S, Arzhangi, S, Kahrizi, K, Booth, KT et al.. A Novel Candidate Gene MACF1 is Associated with Autosomal Dominant Non-syndromic Hearing Loss in an Iranian Family. Arch Iran Med. 2025;28 (1):63-66. doi: 10.34172/aim.31746. PubMed PMID:40001331 PubMed Central PMC11862395.
  • Mohseni, M, Ashrafi, FZ, Abbaspour Rodbaneh, E, Mokabber, H, Vafaei, M, Nobakht, R et al.. Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, Iran. Mol Genet Genomic Med. 2025;13 (2):e70080. doi: 10.1002/mgg3.70080. PubMed PMID:39967327 PubMed Central PMC11836346.
  • Chekroun, I, Shenbagam, S, Almarri, MA, Mokrab, Y, Uddin, M, Alkhnbashi, OS et al.. Genomics of rare diseases in the Greater Middle East. Nat Genet. 2025;57 (3):505-514. doi: 10.1038/s41588-025-02075-8. PubMed PMID:39901015 .
  • Reshadmanesh, A, Dehdahsi, S, Ahangari, F, Kahrizi, K, Kariminejad, A, Mahdavi, SS et al.. First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants. Arch Iran Med. 2024;27 (12):700-706. doi: 10.34172/aim.31593. PubMed PMID:39891458 PubMed Central PMC11786211.
  • Shokouhian, E, Kahrizi, K, Najmabadi, H, Babanejad, M. Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review. J Appl Genet. 2025; :. doi: 10.1007/s13353-025-00940-0. PubMed PMID:39847269 .
  • Fattahi, Z, Shokouhian, E, Peymani, F, Babanejad, M, Beheshtian, M, Edizadeh, M et al.. Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis. Clin Genet. 2025;107 (6):612-619. doi: 10.1111/cge.14692. PubMed PMID:39748273 .
  • Khanbazi, A, Beheshtian, M, Azad, M, Akbari Kelishomi, M, Afroozan, F, Fatehi, F et al.. Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population. Sci Rep. 2024;14 (1):29880. doi: 10.1038/s41598-024-76815-x. PubMed PMID:39622884 PubMed Central PMC11612469.
  • Zare Ashrafi, F, Dorgaleleh, S, Rezvani Rezvandeh, R, Kazemi, N, Azizi, N, Edizadeh, M et al.. A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A4. Arch Iran Med. 2024;27 (9):522-526. doi: 10.34172/aim.28745. PubMed PMID:39465527 PubMed Central PMC11496598.
  • Kazemi, N, Rezvani Rezvandeh, R, Zare Ashrafi, F, Shokouhian, E, Edizadeh, M, Booth, KTA et al.. A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing Loss. Clin Genet. 2025;107 (2):214-218. doi: 10.1111/cge.14635. PubMed PMID:39434538 .
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