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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

  • 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; :. 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 .
  • Alinaghi, S, Mohseni, M, Fattahi, Z, Beheshtian, M, Ghodratpour, F, Zare Ashrafi, F et al.. Genetic Analysis of 27 Y-STR Haplotypes in 11 Iranian Ethnic Groups. Arch Iran Med. 2024;27 (2):79-88. doi: 10.34172/aim.2024.13. PubMed PMID:38619031 PubMed Central PMC11017261.
  • Rashvand, Z, Najmabadi, H, Kahrizi, K, Mozhdehipanah, H, Moradi, M, Estaki, Z et al.. Identification of a Novel Variant in CC2D1A Gene Linked to Autosomal Recessive Intellectual Disability 3 in an Iranian Family and Investigating the Structure and Pleiotropic Effects of this Gene. Iran J Child Neurol. 2024;18 (1):25-41. doi: 10.22037/ijcn.v18i1.42188. PubMed PMID:38375126 PubMed Central PMC10874518.
  • Abolhassani, A, Fattahi, Z, Beheshtian, M, Fadaee, M, Vazehan, R, Ahangari, F et al.. Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population. NPJ Genom Med. 2024;9 (1):12. doi: 10.1038/s41525-024-00393-0. PubMed PMID:38374194 PubMed Central PMC10876633.
  • Mehvari, S, Karimian Fathi, N, Saki, S, Asadnezhad, M, Arzhangi, S, Ghodratpour, F et al.. Contribution of genetic variants in the development of familial premature coronary artery disease in a cohort of cardiac patients. Clin Genet. 2024;105 (6):611-619. doi: 10.1111/cge.14491. PubMed PMID:38308583 .
  • Goleyjani Moghadam, M, Elahi, Z, Soveyzi, M, Arzhangi, S, Nafissi, S, Najmabadi, H et al.. Expanding the Molecular Spectrum of HK1-Related Charcot-Marie-Tooth Disease, Type 4G; the First Report in Iran. Arch Iran Med. 2023;26 (5):279-284. doi: 10.34172/aim.2023.43. PubMed PMID:38301092 PubMed Central PMC10685863.
  • Zare Ashrafi, F, Akhtarkhavari, T, Fattahi, Z, Asadnezhad, M, Beheshtian, M, Arzhangi, S et al.. Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort. Arch Iran Med. 2023;26 (4):186-197. doi: 10.34172/aim.2023.29. PubMed PMID:38301078 PubMed Central PMC10685746.
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