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

  • 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.
  • Mohseni, M, Mohammadi, Y, Zare Ashrafi, F, Ghodratpour, F, Jalalvand, K, Arzhangi, S et al.. An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene. Arch Iran Med. 2023;26 (3):176-180. doi: 10.34172/aim.2023.27. PubMed PMID:37543941 PubMed Central PMC10685723.
  • Zare Ashrafi, F, Mohseni, M, Beheshtian, M, Fattahi, Z, Ghodratpour, F, Keshavarzi, F et al.. Implementation of an In-House Platform for Rapid Screening of SARS-CoV-2 Genome Variations. Arch Iran Med. 2023;26 (2):69-75. doi: 10.34172/aim.2023.12. PubMed PMID:37543926 PubMed Central PMC10685895.
  • Ehtesham, N, Mosallaei, M, Beheshtian, M, Khoshbakht, S, Fadaee, M, Vazehan, R et al.. Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability. Arch Iran Med. 2022;25 (12):788-797. doi: 10.34172/aim.2022.124. PubMed PMID:37543906 PubMed Central PMC10685845.
  • Hosseinpour, M, Ardalani, F, Mohseni, M, Beheshtian, M, Arzhangi, S, Ossareh, S et al.. Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease. Arch Iran Med. 2022;25 (9):600-608. doi: 10.34172/aim.2022.95. PubMed PMID:37543885 PubMed Central PMC10685772.
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