Clinical Genetics & Genomics Department

1.    Alexandrou A, Salameh N, Papaevripidou I, Nicolaou N, Myrianthopoulos P, Ketoni A, Kousoulidou L, Anastasiou AM, Evangelidou P, Tanteles GA, Sismani C. Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene. Mol Cytogenet. 2023 May 22;16(1):8. doi: 10.1186/s13039-023-00638-0. PMID: 37217936; PMCID: PMC10204154.
2.    Aristidou C, Theodosiou A, Alexandrou A, Papaevripidou I, Evangelidou P, Kosmaidou-Aravidou Z, Behjati F, Christophidou-Anastasiadou V, Tanteles GA, Sismani C. Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing. Genes (Basel). 2022 Dec 27;14(1):82. doi: 10.3390/genes14010082. PMID: 36672823; PMCID: PMC9859009.
3.    Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Natural history of KBG syndrome in a large European cohort. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. PMID: 35861666; PMCID: PMC9759332.
4.    van de Laar IMBH, Baas AF, De Backer J, Blankenstein JD, Dulfer E, Helderman- van den Enden ATJM, Houweling AC, Kempers MJ, Loeys B, Malfait F, Robert L, Tanteles G, Frank M. Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN). Eur J Med Genet. 2022 Sep;65(9):104557. doi: 10.1016/j.ejmg.2022.104557. Epub 2022 Jun 30. PMID: 35779834.
5.    Miltiadous A, Demetriou P, Kyriakou M, Gerasimou P, Herodotou G, Elpidoforou A, Kyprianou Y, Iacovou M, Chi J, Costeas P, Tanteles GA. A de novo SFMBT1 pathogenic variant identified in a boy with Poland syndrome. Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):a006168. doi: 10.1101/mcs.a006168. PMID: 35483874; PMCID: PMC9059785.
6.    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. PMID: 34324503; PMCID: PMC8320927. 
7.    Epi25 Collaborative. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. Am J Hum Genet. 2021 Jun 3;108(6):965-982. doi: 10.1016/j.ajhg.2021.04.009. Epub 2021 Apr 30. Erratum in: Am J Hum Genet. 2021 Oct 7;108(10):2024. PMID: 33932343; PMCID: PMC8206159.
8.    Watson CM, Crinnion LA, Lindsay H, Mitchell R, Camm N, Robinson R, Joyce C, Tanteles GA, Halloran DJO, Pena SDJ, Carr IM, Bonthron DT. Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions. Lab Invest. 2021 Apr;101(4):442-449. doi: 10.1038/s41374-020-00489-y. Epub 2020 Sep 28. PMID: 32989232.
9.    MacKenzie KC, de Graaf BM, Syrimis A, Zhao Y, Brosens E, Mancini GMS, Schot R, Halley D, Wilke M, Vøllo A, Flinter F, Green A, Mansour S, Pilch J, Stark Z, Zamba-Papanicolaou E, Christophidou-Anastasiadou V, Hofstra RMW, Jongbloed JDH, Nicolaou N, Tanteles GA, Brooks AS, Alves MM. Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. Hum Mutat. 2020 Nov;41(11):1906-1917. doi: 10.1002/humu.24097. Epub 2020 Sep 16. PMID: 32939943; PMCID: PMC7693350.
10.    Kritioti E, Theodosiou A, Nicolaou N, Alexandrou A, Papaevripidou I, Efstathiou E, Christophidou-Anastasiadou V, Sismani C, Tanteles GA. First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature. Eur J Med Genet. 2020 Jul;63(7):103939. doi: 10.1016/j.ejmg.2020.103939. Epub 2020 Apr 30. PMID: 32360765.
11.    Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Dupont Garcia J, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Møller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Marín Reina P, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Schrier Vergano S, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Giorgi Rossi P, Garavelli L. Mowat-Wilson syndrome: growth charts. Orphanet J Rare Dis. 2020 Jun 15;15(1):151. doi: 10.1186/s13023-020-01418-4. PMID: 32539836; PMCID: PMC7294656.
12.    Parperis K, Letsos K, Loizidou MA, Hadjisavvas A, Tanteles GA. Jaccoud's arthropathy in Clericuzio-type poikiloderma with neutropenia. Rheumatology (Oxford). 2020 May 16:keaa236. doi: 10.1093/rheumatology/keaa236. Epub ahead of print. PMID: 32415769.
13.    Christodoulou P, Tanteles G, Nikolaou N, Katsimbris I, Stefaniotou M. Intrafamilial Phenotype Variability in Two Male Siblings, With X-linked Juvenile Retinoschisis and Dorzolamide Treatment Effect in the Natural History of the Disease. Med Hypothesis Discov Innov Ophthalmol. 2019 Spring;8(1):11-15. PubMed PMID: 30923717; PubMed Central PMCID: PMC6433199.
14.    Pasmatzi E, Kousparos G, Mytidou C, Nicolaou N, Tanteles GA, Badavanis G, Monastirli A, Tsambaos D. Persistent generalized Grover disease: complete remission after treatment with oral acitretin. Dermatol Online J. 2019 Mar 15;25(3). pii: 13030/qt2vm7509r. PubMed PMID: 30982306. 
15.    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 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed PMID: 29901133; PubMed Central PMCID: PMC6072148.
16.    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 Jun;97(2):555-562. Review. PubMed PMID: 29932076
17.    Tanteles GA, Nicolaou N, Syrimis A, Metaxa R, Nicolaou M, Christophidou-Anastasiadou V, Skordis N. Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. Clin Dysmorphol. 2017 Apr;26(2):61-65. doi: 10.1097/MCD.0000000000000170. PMID: 28145909.
18.    Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Behjati F, Tanteles G, Christophidou-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. Erratum in: PLoS One. 2017 Mar 15;12 (3):e0174190. PMID: 28072833; PMCID: PMC5225008.
19.    Jones GE, Robertson L, Maniyar A, Shammas C, Phelan MM, Vasudevan PC, Tanteles GA. Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. Am J Med Genet A. 2016 Mar;170(3):754-9. doi: 10.1002/ajmg.a.37511. Epub 2016 Jan 5. PubMed PMID: 6728615.
20.    Georgiou T, Mavrikiou G, Alexandrou A, Spanou-Aristidou E, Savva I, Christodoulides T, Krasia M, Christophidou-Anastasiadou V, Sismani C, Drousiotou A, Tanteles GA. Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata. Case Rep Genet. 2016;2016:5208312. doi: 10.1155/2016/5208312. Epub 2016 Mar 30. PubMed PMID: 27123349; PubMed Central PMCID: PMC4829700.
21.    Loizidou MA, Hadjisavvas A, Tanteles GA, Spanou-Aristidou E, Kyriacou K, Christophidou-Anastasiadou V. Fanconi anemia-D1 due to homozygosity for the BRCA2 gene Cypriot founder mutation: A case report. Oncol Lett. 2016 Jan;11(1):471-473. Epub 2015 Nov 2. PubMed PMID: 26834852; PubMed Central PMCID: PMC4727152.
22.    Tanteles GA, Nicolaou M, Neocleous V, Shammas C, Loizidou MA, Alexandrou A, Ellina E, Patsia N, Sismani C, Phylactou LA, Christophidou-Anastasiadou V. Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. J Genet. 2015 Dec;94(4):749-54. doi: 10.1007/s12041-015-0564-3. PMID: 26690531.
23.    Tanteles GA, Nicolaou M, Patsia N, Delikurt-Tuncalp T, Spanou-Aristidou E, Leonidou E, Kyriakides T, Christophidou-Anastasiadou V. A rare cause of pruritic ichthyosis: Sjögren-Larsson syndrome in the first reported patients of Cypriot descent. Eur J Dermatol. 2015 Sep-Oct;25(5):495-6. doi: 10.1684/ejd.2015.2615. PMID: 26394537.
24.    Tanteles GA, Michaelidou S, Loukianou E, Christophidou-Anastasiadou V, Kleopa KA. Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome. Clin Dysmorphol. 2015 Jul;24(3):102-5. doi: 10.1097/MCD.0000000000000074. PMID: 25714367.
25.    Tanteles GA, Nikolaou E, Christou Y, Alexandrou A, Evangelidou P, Christophidou-Anastasiadou V, Sismani C, Papacostas SS. Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3. Case Rep Genet. 2015;2015:242891. doi: 10.1155/2015/242891. Epub 2015 Jul 29. PMID: 26294985; PMCID: PMC4532806. 
26.    Delikurt T, Williamson GR, Anastasiadou V, Skirton H. A systematic review of factors that act as barriers to patient referral to genetic services. Eur J Hum Genet. 2015 Jun;23(6):739-45. doi: 10.1038/ejhg.2014.180. Epub 2014 Sep 10. PMID: 25205405; PMCID: PMC4795051.
27.    Tanteles GA, Alexandrou A, Evangelidou P, Gavatha M, Anastasiadou V, Sismani C. Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: review of the literature. Am J Med Genet A. 2015 Mar;167A(3):664-9. doi: 10.1002/ajmg.a.36945. PMID: 25691421.
28.    Tanteles GA, Spanou-Aristidou E, Antoniou C, Christophidou-Anastasiadou V, Kleopa KA. Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family. J Neurol Sci. 2014 May 15;340(1-2):233-6. doi: 10.1016/j.jns.2014.03.001. Epub 2014 Mar 11. PMID: 24655737.
29.    Tanteles GA, Christophidou-Anastasiadou V. Ocular phenotype of Mowat-Wilson syndrome in the first reported Cypriot patients: an under-recognized association. Clin Dysmorphol. 2014 Jan;23(1):20-23. doi: 10.1097/MCD.0000000000000013. PMID: 24263623. 
30.    Tanteles GA, Dixit A, Dhar S, Suri M. Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability. Am J Med Genet A. 2013 Oct;161A(10):2588-93. doi: 10.1002/ajmg.a.36094. Epub 2013 Aug 5. PMID: 23918704.
31.    Kousoulidou L, Tanteles G, Moutafi M, Sismani C, Patsalis PC, Anastasiadou V. 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. Eur J Med Genet. 2013 Jun;56(6):314-8. doi: 10.1016/j.ejmg.2013.03.005. Epub 2013 Mar 23. PMID: 23528641.