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Cytogenetics and Genomics Department

Selected Publications

  1. Aristidou C, Theodosiou A,  Alexandrou A ,Papaevripidou I, Evangelidou E, Kosmaidou-Aravidou Z, Behjati F 3, Christophidou-Anastasiadou V,  Tanteles GA and Sismani C. Exploring the genetic causality of discordant phenotypes in familial apparently balanced translocation cases using whole exome sequencing. Genes 2023, 14(1), 82; https://doi.org/10.3390/genes14010082 

  2. Kritioti E, Theodosiou A, Parpaite T, Alexandrou A, Nicolaou N, Papaevripidou I, Séjourné N, Coste B, Christophidou-Anastasiadou V, Tanteles GA, Sismani C. Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population. PLoS One. 2021 Jul 29;16(7):e0253562. doi: 10.1371/journal.pone.0253562. eCollection 2021.PMID: 34324503

  3. Evangelidou P, Kousoulidou L, Salameh N, Alexandrou A, Papaevripidou I, Alexandrou IM, Ketoni A, Ioannidou C, Christophidou-Anastasiadou V, Tanteles GA, Sismani C. An unusual combination of an atypical maternally inherited novel 0.3Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis. Eur J Med Genet. 2020 Oct 9:104084. doi: 10.1016/j.ejmg.2020.104084. 

  4. Kritioti E, Theodosiou A, Nicolaou N, A Alexandrou A, Papaevripidou I, Efstathiou E, Christophidou-Anastasiadou V, Sismani C. Tanteles, G. A. First reported case of Steel syndrome in the European population: a novel homozygous mutation in COL27A1. https://doi.org/10.1016/j.ejmg.2020.103939 

  5. Sismani C,  Rapti SM, Iliopoulou P,  Spring A,  Neroutsou R , Lagou M ,  Robola M , Tsitsopoulos E, Kousoulidou L ,  Alexandrou A, Papaevripidou I, Theodosiou A , Syrrou M, Fuchs S, Hempel M , Huhle D , Liehr T, Ziegler M, Duesberg M , Velissariou V.  Novel Pericentric Inversion inv(9)(p23q22.3) in Unrelated Individuals With Fertility Problems in the Southeast European Population. J Hum Genet. 2020 May 13.doi: 10.1038/s10038-020-0769-z 

  6. Koumbaris G, Achilleos A, Nicolaou M, Loizides C, Tsangaras K, Kypri E, Mina P, Sismani C, Velissariou V, Christopoulou G, Constantoulakis P, Manolakos E, Papoulidis I, Stambouli D, Ioannides M, Patsalis P. Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases. Mol Cytogenet. 2019 Nov 21;12:48. doi: 10.1186/s13039-019-0459-8. eCollection 2019 

  7. Alexandrou A, Papaevripidou I, Alexandrou IM, Theodosiou A, Evangelidou P, Kousoulidou L, Tanteles G, Christophidou-Anastasiadou V, Sismani C. De novo mosaic MECP2 mutation in a female with Rett syndrome. Clin Case Rep. 2019  15;7(2):366-370. doi: 10.1002/ccr3 

  8. 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. 

  9. 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. 

  10. 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  

  11. Aristidou C, Theodosiou A, Ketoni A, Bak M, Mehrjouy MM, Tommerup N, Sismani C.  Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement. Mol Cytogenet. 2018 Jun 7;11:34. doi: 10.1186/s13039-018-0384-2. 

  12. 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 

  13. Syrimis A, Nicolaou  N, Alexandrou A, Papaevripidou I,  Nicolaou M Loukianou E Christophidou-Anastasiadou V, Malas S,  Sismani C, Tanteles GA.  Aniridia due to a novel microdeletion affecting PAX6  regulatory enhancers: case report and review of the literature. J Genet. 2018 ;97:555-562 

  14. Syrimis A, Nicolaou N, Alexandrou A, Papaevripidou I, Nicolaou M, Loukianou E, Sismani C, Malas S, Christophidou-Anastasiadou V, Tanteles GA. Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation. Mol Med Rep. 2018. doi: 10.3892/mmr.2018.9126. 

  15. Evangelidou P, Sismani C: Array-CGH in prenatal Diagnosis. In: eLS. John Wiley & Sons Ltd, Chichester. DOI: 10.1002/9780470015902.a0026715. March 2017

  16. 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.

  17. 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.
  18. 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
  19. 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
  20. 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 
  21. 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.  
  22. 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]. 
  23. 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 
  24. 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
  25. 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 
  26. Sismani C, Anastasiadou V, Kousoulidou L, Parkel S, Koumbaris G, Zilina O, Bashiardes S, Spanou E, Kurg A, Patsalis PC. 9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features. Eur J Med Genet. 54:510-515, 2011. 
  27. Evangelidou P, Sismani C, Ioannides M, Christodoulou C, Koumbaris G, Kallikas I, Georgiou I, Velissariou V, Patsalis PC. Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations. Mol Cytogenet. 2010 Nov 26;3:24. 
  28. 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.
  29. 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. 
  30. 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.
  31. 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.
  32. 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.
  33. 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.
Related Articles
Awards

C. Aristidou, M. M. Mehrjouy, M. Bak, A. Theodosiou,V. Christophidou-Anastasiadou, N. Skordis,  N. Tommerup, C. Sismani. Cryptic complexity and disease candidate genes identified in de novo ...

Grants Obtained

Research Team Member 2018-2019 Funding Body: H2020-WIDESPREAD-04-2017-TeamingPhase1 Title: Establishment of an Agricultural Genomics Centre in Cyprus (AGRICYGEN)   Co-Principal ...

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