دکتر روکسانا کریمی نژاد

 

Dr. Roxana Kariminejad

 

Kariminejad & Najmabadi Pathology and Genetics Center

1143 Med Bldg, Sanat Sq. Shahrak Gharb

Tehran 14667/13713 Iran

Tel: +98 21 88363955

                            

Languages:

 Fluency in Persian and English, Competence in French, Elementary German

 

Education:

Elementary School: Hadaf,Tehran, Iran                                      1969-1970

                                E. B. Newton, Boston, Massachussetts       1970-1972    

                                Bahar Now, Tehran, Iran                             1972-1973

High School:          Tehran International School, Tehran, Iran   1973-1978

                                Notre Dame High School, San Jose, Calif., U.S.A.                                      

                                                                                                     1978-1979

Undergraduate:       Bachelor of Science in General Biology from

                                University of California, San Diego, La Jolla, Calif.,                

                                U.S.A.                                                          1979-1985    

Post-graduate:         Master of Science in Genetics from

                                Iran Islamic University, Science and Research,

                                                                                                     1997-1999                

Doctorate:              Research in Max Planck Institute for Molekulare Genetik

                                                                                                     2007-2012

                               Free University, Berlin, Germany

                                                                                                     2008-2012

 

Fellowship:            Rotation in Pathology department, St Jude Children's   

                               Research Hospital, Memphis, Tennessee,

                               cytogenetics dept, supervision of  Dr. Susana Raimondi

                                                                                 May 7-Apr 1, 2005

Courses:                Blugnome training in CYTOCHIP

                               Cambridge, UK, Apr. 5-7, 2009

 

                              European School of Genetic Medicine, Hybrid Course in

                              Cancer Genetics, ESGM’s remote training center

                                                                                         Oct. 1-5, 2005

                                           

 

Experience:

1986-1988:          Karimi-Nejad Genetics & Pathology Center, Tehran, Iran,

                             Cytogenetics Technologist, Setting up peripheral            

                             blood cultures, harvesting and screening

1988-1990: :        Karimi-Nejad Genetics & Pathology Center, Tehran, Iran,

                             Senior Cytogenetics Technologist, control of culture set      

                             up, harvesting and screening, final control of  results

                             Genetic counselor

1990-2003:           Karimi-Nejad Genetics & Pathology Center, Tehran, Iran,

                             Supervisor of cytogenetic department, including culture,

                             set up, harvest and screening of all samples, final control  

                             of all results,

                             General manager of laboratory,

                             Senior Genetic counselor: supervision and initial control

                             of all counseling sessions

2003-present:      Karimi-Nejad Najmabadi Genetics & Pathology Center, Tehran, Iran,

                             Director of cytogenetic department, including culture,

                             set up, harvest and screening of all samples, final control  

                             of all results

2005-Present:      Karimi-Nejad Najmabadi Genetics & Pathology Center, Tehran, Iran,

                             Director of molecular cytogenetic department, including

                             FISH and array CGH set up and screening of all

                             samples, final control of all results

 

Books:

         الفبای ژنتیک پزشکی انتشارات نوید شیراز سال 1378

 

Publication:

  1. Karimi-Nejad, MH; Khajavi, H; Ghaffari, MJ; Karimi-Nejad, R; Neu-Laxova Syndrome: Report of case and comments. American Journal of Medical Genetics 28: 17-23, 1987.
  2. Karimi-Nejad, R; Ghoffrani, M; Najafi, H; Karimi-Nejad, MH; Reconsideration of the Cat Eye Syndrome: Reciprocal translocation t(11;22) leading to partial trisomy of 11q and 22. Medical Journal of the Islamic Republic of Iran Vol. 3 No.12 pp 83-86,1989.
  3. Karimi-Nejad, MH; Ghoffrani, M; Najafi, H; Karimi-Nejad, R; Parental reciprocal translocation t(11;22) leading to partial trisomy of 11q and 22. Clinical Genetics 37:369,1990.
  4. Karimi-Nejad, MH; Karimi-Nejad, R; An interstitial deletion of the short arm of chromosome 3. Clinical Genetics 37:369,1990.
  5. Karimi-Nejad, MH et al. X-linked Hypohydrotic ectodermal dysplasia in a family with 5 males and 3 females affected. Clinical Genetics 42 May 1994.
  6. Karimi-Nejad, A; Karimi-Nejad, R; Najafi, H; Karimi-Nejad, MH; Blepharophimosis syndrome and additional abnormalities in a female with a balanced X;3 translocation. Clinical Dysmorphology Vol 5 259-261, 1996.
  7. Karimi-Nejad, A; Shafeghati, Y; Karimi-Nejad, R; New findings in a patient with distal 13q-. Clin Dysmorphol. 1998 Apr;7(2):153-4.
  8. Shafeghati, Y; Karimi-Nejad, A; Karimi-Nejad R; Supernumerary nipples in a Bartsocas-Papas patient in a consanguineous Iranian family.
    Clin Dysmorphol. 1999 Apr;8(2):155-6.
  9. Lagerstedt, K; Carlberg, R; Karimi-Nejad, R; Kleijer, WJ; Bondeson, ML; Analysis of a 43.6 KB deletion in a patient with Hunter Syndrome (MPS II): Identification of a Fusion Transcript Including Sequences from the Gene W and the IDS Gene. Human Mutation, 15; 324-331 2000.
  10. Najmabadi, H; Sahebjam, S; Karimi-Nejad, R; Saremi, A; Sahebjam, F; Shafaghati, Y; Karimi-Nejad; MH; Short Man with 46,X,del(Yp)del(Yq) karyotype amd more distal Yq deletion. Arch Int Med: 3 (4) 204-206, 2000.
  11. Fekeki, X; Najmabadi, H; Karimi-Nejad, R; Christopoulos, G; Kleanthous, M;  Identification of a novel beta null thalassemia mutation, codon 80/81 (-C) in an Iranian family. Hemoglobin 24 (4) 319-321 2000.
  12. Shafeghati, Y;  Karimi-Nejad, R; Azimi, F; Karimi-Nejad, MH; Huijmans, J;  Kleijer, W; Van Diggelen, O;: Epidmiology and relative incidence of rare neurometabolic and neurogenetic disorders in IRAN. Archives of Iranian Medicine Vol 4 No 2 April 2001
  13. Najmabadi, H; Karimi-Nejad, R; Sahebjam, S; Pourfarzad, F; Teymourian, S; Sahebjam, F; Karimi-Nejad, MH: The beta thalassemia mutation spectrum in the Iranian population. Hemoglobin 25 (3) 285-296 2001.
  14. Karimi-Nejad, MH; Meshkat, MR; Sohbati, S; Karimi-Nejad, R; Rezaie, T; Najmabadi, H; Sarfarazi, M; Congenital Blindness: Report of Leber Congenital Amaurosis in a large Iranian kindred. Arch Int Med 4 (4): 171-176, 2001.
  15. Zangeneh, M; Karimi-Nejad, R; Voghouie, S; Nayeb-bagher, T; Miri, H; Karimi-Nejad, MH; Result of Cytogenetic Study of 700 Bone Marrow Samples, Kanun no.7 Winter 2002.
  16. Garshasbi M, Oberkanins C, Law HY, Neishabury M, Karimi-Nejad, R, Najmabadi H.alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia. Haematologica. 2003 Oct;88(10):1196-7. Review. PubMed PMID: 14555321.
  17. Najmabadi H, Ghamari A, Sahebjam F, Karimi-Nejad, R, Hadavi V, Khatibi T, Samavat A, Mehdipour E, Modell B, Kariminejad MH. Fourteen-year experience of prenatal diagnosis of thalassemia in Iran. Community Genet. 2006;9(2):93-7 PubMed PMID: 16612059.
  18.  Salipante SJ, Benson KF, Luty J, Hadavi V, Karimi-Nejad, R, Kariminejad MH, Rezaei N, Horwitz MS. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. Hum Mutat. 2007 Sep;28(9):874-81. PubMed PMID: 17436313.
  19. Hadavi V, Taromchi AH, Malekpour M, Gholami B, Law HY, Almadani N, Afroozan F,Sahebjam F, Pajouh P, Kariminejad R, Kariminejad MH, Azarkeivan A, Jafroodi M,Tamaddoni A, Puehringer H, Oberkanins C, Najmabadi H. Elucidating the spectrum of alpha-thalassemia mutations in Iran. Haematologica. 2007 Jul;92(7):992-3. PubMed PMID: 17606454.
  20. Rezaie, T; Karimi-Nejad, MH; Najmabadi, H; Karimi-Nejad, R; Meshkat, H; Sohbat, S; Sarfarzi, M; Mutation detection in a large Iranian family with Leber Congenital Amaurosis, Ophthalmic Genet. 2007 Dec;28(4):224-8.
  21.  Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet. 2008 May;82(5):1158-64.Epub 2008 May 1. PubMed PMID: 18452889; PubMed Central PMCID: PMC2651624.
  22. Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet. 2008 May;82(5):1158-64. Epub 2008 May 1. PubMed PMID: 18452889; PubMed Central PMCID: PMC2651624.
  23. Hasanzad M, Golkar Z, Kariminejad R, Hadavi V, Almadani N, Afroozan F, Salahshurifar I, Shafeghati Y, Kahrizi K, Najmabadi H. Deletions in the survival motor neuron gene in Iranian patients with spinal muscular atrophy. Ann Acad Med Singapore. 2009 Feb;38(2):139-41
  24. Kariminejad A, Kariminejad R, Tzschach A, Ullmann R, Ahmed A, Asghari-Roodsari A, Salehpour S, Afroozan F, Ropers HH, Kariminejad MH. Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet A. 2009 Jul;149A(7):1544-9. PubMed PMID: 19533795.
  25. Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OPMucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. Hum Mutat. 2010 May;31(5):E1348-60
  26. Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW, Najmabadi H, Tzschach A. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet. 2011 Jan;19(1):115-7. Epub 2010 Aug 11
  27. Kariminejad A, Kariminejad R, Tzschach A, Najafi H, Ahmed A, Ullmann R, Ropers HH, Kariminejad MH.11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.Am J Med Genet A. 2010 Oct;152A(10):2651-5. No abstract available
  28. Kariminejad A, Kariminejad R, Moshtagh A, Zanganeh M, Kariminejad MH, Neuenschwander S, Okoniewski M, Wey E, Schinzel A, Baumer A Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18. Eur J Hum Genet. 2011 May;19(5):555-60. Epub 2011 Feb 16
  29. Kariminejad R, Lind-Thomsen A, Tümer Z, Erdogan F, Ropers HH, Tommerup N, Ullmann R, Møller RS. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.Hum Mutat. 2011 Aug 31. doi: 10.1002/humu.21585. [Epub ahead of print]
  30. Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423
  31. Behjati F, Ghasemi Firouzabadi S, Kahrizi K, Kariminejad R, Bagherizadeh I, Ansari J, Fallah M, Mojtahedi F, Darvish H, Bahrami Monajemi G, Abedini SS, Jamali P, Mojahedi F, Zadeh-Vakili A, Najmabadi H. Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages.Arch Med Sci. 2011 Apr;7(2):321-5. doi: 10.5114/aoms.2011.22085. Epub 2011 May 17.PMID: 22291774
  32. Shojaei A, Behjati F, Derakhshandeh-Peykar P, Razzaghy-Azar M, Otukesh H, Kariminejad R, Dowlati MA, Rashidi-Nezhad A, Tavakkoly-Bazzaz J. Partial trisomy 7q and monosomy 13q in a child with disorder of sex development: phenotypic and genotypic findings.Gene. 2013 Mar 15;517(1):137-45. doi: 10.1016/j.gene.2012.11.013. Epub 2012 Nov 30. PMID: 23201896
  33. Behjati F, Ghasemi Firouzabadi S, Sajedi F, Kahrizi K, Najafi M, Ebrahimizade Ghasemlou B, Shafeghati Y, Behnia F, Mohammadi Arya AR, Karimi H, Hadipour F, Hadipour Z, Jamali P,Kariminejad R, Darvish H, Bahman I, Bagherizadeh E, Najmabadi H, Vameghi R. Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation. Iran Red Crescent Med J. 2013 Oct;15(10):e8221. doi: 10.5812/ircmj.8221. Epub 2013 Oct 5. PMID: 24693374
  34. Loghmani Khouzani H, Kariminejad A, Zamani G, Ghalandary M, Bozorgmehr B, Amirsalari S, Mojahedi F, Tonekaboni SH, Kariminejad R, Najmabadi H. Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population. Arch Iran Med. 2014 Jul;17(7):471-4. doi: 0141707/AIM.004. PMID: 24979557
  35. Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet. 2014 Aug 20. doi: 10.1038/ejhg.2014.165. [Epub ahead of print] PMID: 25138099
  36. Rostami P, Valizadegan S, Ghalandary M, Mehrjouy MM, Esmail-Nia G, Khalili S, Shahmoradi SS, Imanian H, Hadavi V, Ghaderi-Sohi S, Almadani N, Afroozan F, Kariminejad A, Kariminejad R, Najmabadi H.Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.Arch Iran Med. 2015 May;18(5):296-303. doi: 0151805/AIM.007.
  37. Firouzabadi SG, Kariminejad R, Vameghi R, Darvish H, Ghaedi H, Banihashemi S, Firouzkouhi Moghaddam M, Jamali P, Mofidi Tehrani HF, Dehghani H, Narooie-Nejad M, Jamshidi J, Tafakhori A, Sadabadi S, Najmabadi H, Behjati F. Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.  Mol Neurobiol. 2017 Nov;54(9):7019-7027. doi: 10.1007/s12035-016-0202-y. Epub 2016 Oct 28.
  38. Najafi K, Kariminejad R, Hosseini K, Moshtagh A, Abbassi GM, Sadatian N, Bazrgar M, KariminejadA, Kariminejad MH. Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis. Case Rep Genet. 2017;2017:2706098. doi: 10.1155/2017/2706098. Epub 2017 Jan 4.
  39. Ghasemi Firouzabadi S, Vameghi R, Kariminejad R, Darvish H, Banihashemi S, Firouzkouhi Moghaddam M, Jamali P, Farbod Mofidi Tehrani H, Dehghani H, Raeisoon MR, Narooie-Nejad M, Jamshidi J, Tafakhori A, Sadabadi S, Behjati F.Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications. Int J Mol Cell               Med. 2016 Fall;5(4):236-245. Epub 2016 Dec 5.

  40. Akbaroghli S, Tonekaboni SH, Kariminejad R, Liehr T, Coci EG. De-novo interstitial 2.33 Mb deletion in 8q24.3: new insights on a very rare partial monosomy                          syndrome. Clin Dysmorphol. 2018 Jul;27(3):97-100. 

  41. Taghdiri M, Kashef A, Abbassi G, Moshtagh A, Sadatian N, Fardaei M, Najafi K, Kariminejad R. Further delineation of the phenotype caused by a novel large homozygous deletion of GRID2 gene in an adult patient. Clinical Case Reports. 2019.

  42. Ghaffari M, Tahmasebi Birgani M, Kariminejad R, Saberi A. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.. Annals of human genetics. 2018 Nov;82(6):469-76.

 

       

 

 

 

 

 

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