Carolina Sismani


Current Position

Senior Scientist/Head of the Department of Cytogenetics and Genomics


The Cyprus Institute of Neurology & Genetics

Research Interests

Genetic investigation of patients of Intellectual Disability with focus in X-linked forms (XLID)

Mapping of breakpoints in patients with balanced rearrangements

Genetic investigation of high risk pregnancies and infertility problems.




Dr. Carolina Sismani is the Head of the Cytogenetics and Genomics Department at the Cyprus Institute of Neurology and Genetics (CING). The Department offers diagnostic services, research and educational programs and also has double accreditation from the College of American Pathologists and with ISO 15189. 

Dr. Sismani was born in Nicosia and has obtained her BSc in Biology from Stockholm University in Sweden in 1995 and her PhD in Genetics (PhD thesis: Genetic Factors in Mental Retardation) in 2004 from Nottingham University in the UK. She has also participated in several postgraduate training courses.

She was employed at the Department of Cytogenetics and Genomics in 1995, became a Scientist in 2005 and was appointed as Senior Scientist and Head of the Department in 2012.

Dr. Sismani is also a Professor at the Cyprus School of Molecular Medicine (CSMM) and is the coordinator of the course Cytogenetics and Genomics. She has supervised many MSc and PhD students. In addition she has trained many Scientists in the field of Cytogenetics and Genomics.

She is actively involved in research focusing in intellectual disability, congenital anomalies, high risk pregnancies and reproductive problems. She has received several grants in which she participated as the Principal or co-Principal Investigator.  She has published over 65 papers in international peer review journals, 5 book chapters and more than 85 abstracts in poster or oral form in International conferences. She also participates in many national and European committees.



Selected Publications

  1. Kousoulidou L, Alexandrou A, Papaevripidou I, Evangelidou P, Tanteles G, Anastasiadou VC, Sismani C. Two unrelated individuals carrying rare mosaic deletions in TCF4 gene. Am J Med Genet A. 2019; 179(1):134-138 doi: 10.1002/ajmg.a.60692. 
  2. Aristidou C, Theodosiou A, Bak M, Mehrjouy MM, Constantinou E, Alexandrou A, Papaevripidou I, Christophidou-Anastasiadou V, Skordis N, Kitsiou-Tzeli S, Tommerup N, Sismani C. Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. PLoS One. 2018 Oct 5;13(10):e0205298. doi: 10.1371/journal.pone.0205298. 
  3. Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. De novo unbalanced translocations have a complex history/aetiology. Hum Genet. 2018 Oct 1. doi: 10.1007/s00439-018-1941-9
  4. Keravnou A, Ioannides M, Loizides C, Tsangaras K, Achilleos A, Mina P, Kypri E, Hadjidaniel MD, Neofytou M, Kyriacou S, Sismani C, Koumbaris G, Patsalis PC. MeDIP combined with in-solution targeted enrichment followed by NGS: Inter-individual methylation variability of fetal-specific biomarkers and their implementation in a proof of concept study for NIPT. PLoS One. 2018;13(6):e0199010. doi: 10.1371/journal.pone.0199010
  5. Neofytou CM, Tsangaras K, Kypri E, Loizides C, Ioannides M, Achilleos A, Mina P,  Keravnou A, Sismani C, Koumbaris G, Patsalis PC: A new Targeted Capture Enrichment Assay for Non-Invasive Prenatal Testing of Large and Small Size Sub-chromosomal Deletions and Duplications: PLoS One. 2017 Feb 3;12(2):e0171319. doi: 10.1371/journal.pone.0171319.
  6. Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Farkhondeh B, Tanteles G, Anastasiadou V, Tommerup N, Sismani C. Accurate breakpoint mapping in apparently balanced translocation families with discordant phenotypes using whole genome mate-pair sequencing. PLoS One. 2017 Jan 10;12(1):e0169935. doi: 10.1371/journal.pone.0169935.
  7. Alexandrou A , Papaevripidou I, Tsangaras K,Alexandrou I, Tryfonidis M, Christophidou-Anastasiadou V, Zamba-Papanicolaou E, Koumbaris G, Neocleous V, Phylactou LA ,Skordis N,  Tanteles GA, Sismani C. Identification of a novel 15.5kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin. J Genet. 2016;95:839-845
  8. Koufaris C, Alexandrou A, Tanteles G, Anastasiadou V, Sismani C. A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder. Biomedical Reports biom rep 4: 215-218, 2016
  9. Koufaris C, Sismani C.     Modulation of the genome and epigenome of individuals susceptible to autism by environmental risk factors. Int. J. Mol. Sci.16:8699-8718, 2015 
  10. Koufaris C, Papagregoriou G, Kousoulidou L, Moutafi M, Tauber M, Jouret B, Kieffer I, Deltas C, Tanteles GA, Anastasiadou V, Patsalis PC, Sismani C. Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities. Gene. 561:95-100, 2015.  
  11. Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).  Clin Genet. 2014 , doi: 10.1111/cge.12420. [Epub ahead of print]. 
  12. Kousoulidou L, Moutafi M, Nicolaides P, Hadjiloizou S, Christofi C, Paradesiotou A, Anastasiadou V, Sismani C, Patsalis PC. Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH. Biomed Res Int. 843027, 2013 
  13. Sismani C,  Donoghue J ,  Alexandrou A, Karkaletsi M, Christopoulou S,. Konstantinidou AE ,. Livanos P, Patsalis P.C., Velissariou V. A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus. Gene,  1;530:138-142, 2013
  14. 14. Evangelidou P, Alexandrou A, Moutafi M, Ioannides M, Antoniou P, Koumbaris G, Kallikas I, Velissariou V, Sismani C and Patsalis PC. Implementation of high resolution whole genome array CGH in the prenatal clinical setting. Advantages, challenges and review of the literature. Biomed Res Int. 346762, 2013 
  15. Sismani C, Kitsiou-Tzeli S, Ioannides M, Christodoulou C, Anastasiadou V, Stylianidou G, Papadopoulou E, Kanavakis E, Kosmaidou-Aravidou Z, Patsalis PC. Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype. Mol Cytogenet. 2008 Jul 21;1(1):15.
  16. Kousoulidou L, Männik K, Sismani C, Žilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A and Patsalis PC. Array-MAPH: a methodology for the detection of locus copy-number changes in complex genomes. Nat Protoc. 2008;3(5):849-65. 
  17. Velissariou V, Sismani C, Christopoulou S, Kaminopetros P, Hatzaki A, Evangelidou P, Koumbaris G, Bartsocas CS, Stylianidou G, Skordis N, Diakoumakos A and Patsalis PC. Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysis. Eur J Med Genet. Jul-Aug;50(4):291-300, 2007.
  18. Patsalis PC, Kousoulidou L, Männik K, Sismani C, Žilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A. Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization. European Journal of Human Genetics Feb; 15:162-172, 2007.
  19. Sismani C, Armour JAL, Flint J, Girgalli C, Regan R and Patsalis PC. Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay, European Journal Human Genetics, 9:527-532, 2001.
  20. Armour JAL, Sismani C, Patsalis PC, Cross G. Simple, high-resolution measurement of locus copy number in complex genomes, Nucleic Acid Research, 15;28(2):605-609, 2000.
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