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

  • Jamshidi, F, Shokouhian, E, Mohseni, M, Kahrizi, K, Najmabadi, H, Babanejad, M et al.. Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature review. Mol Genet Genomic Med. 2023;11 (5):e2168. doi: 10.1002/mgg3.2168. PubMed PMID:36934406 PubMed Central PMC10178790.
  • Mensah, MA, Niskanen, H, Magalhaes, AP, Basu, S, Kircher, M, Sczakiel, HL et al.. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases. Nature. 2023;614 (7948):564-571. doi: 10.1038/s41586-022-05682-1. PubMed PMID:36755093 PubMed Central PMC9931588.
  • Dawood, M, Akay, G, Mitani, T, Marafi, D, Fatih, JM, Gezdirici, A et al.. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023;191 (3):794-804. doi: 10.1002/ajmg.a.63080. PubMed PMID:36598158 PubMed Central PMC9928800.
  • Nair, D, Li, D, Erdogan, H, Yoon, A, Harr, MH, Bergant, G et al.. Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3. HGG Adv. 2022;3 (4):100122. doi: 10.1016/j.xhgg.2022.100122. PubMed PMID:35860725 PubMed Central PMC9289858.
  • Saghi, M, InanlooRahatloo, K, Alavi, A, Kahrizi, K, Najmabadi, H. Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery. BMC Med Genomics. 2022;15 (1):89. doi: 10.1186/s12920-022-01237-5. PubMed PMID:35436926 PubMed Central PMC9014605.
  • Mosallaei, M, Ehtesham, N, Beheshtian, M, Khoshbakht, S, Davarnia, B, Kahrizi, K et al.. Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients. Mol Genet Genomic Med. 2022;10 (4):e1894. doi: 10.1002/mgg3.1894. PubMed PMID:35174982 PubMed Central PMC9000939.
  • Sumathipala, D, Strømme, P, Fattahi, Z, Lüders, T, Sheng, Y, Kahrizi, K et al.. ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences. Brain. 2022;145 (7):2602-2616. doi: 10.1093/brain/awac034. PubMed PMID:35104841 PubMed Central PMC9337812.
  • Babanejad, M, Beheshtian, M, Jamshidi, F, Mohseni, M, Booth, KT, Kahrizi, K et al.. Genetic etiology of hearing loss in Iran. Hum Genet. 2022;141 (3-4):623-631. doi: 10.1007/s00439-021-02421-w. PubMed PMID:35050400 .
  • Nair, D, Li, D, Erdogan, H, Yoon, A, Harr, MH, Bergant, G et al.. Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3. HGG Adv. 2021;2 (2):100024. doi: 10.1016/j.xhgg.2021.100024. PubMed PMID:35047834 PubMed Central PMC8756546.
  • Rashvand, Z, Kahrizi, K, Najmabadi, H, Najafipour, R, Omrani, MD. A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion. J Gene Med. 2022;24 (4):e3406. doi: 10.1002/jgm.3406. PubMed PMID:34967075 .
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