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2020

Babbs C, Brown J, Horsley SW, Slater J, Maifoshie E, Kumar S, Ooijevaar P,Kriek M, Dixon-McIver A, Harteveld CL, Traeger-Synodinos J, Wilkie AOM, Higgs DR,Buckle VJ. ATR-16 syndrome: mechanisms linking monosomy to phenotype. J MedGenet. 2020 Jan 31. pii: jmedgenet-2019-106528. doi:10.1136/jmedgenet-2019-106528. [Epub ahead of print] PubMed PMID: 32005695.

Neumann K, Sermon K, Bossuyt P, Goossens V, Geraedts J, Traeger-Synodinos J,Parriego M, Schmutzler A, van der Ven K, Rudolph-Rothfeld W, Vonthein R,Griesinger G. An economic analysis of preimplantation genetic testing foraneuploidy by polar body biopsy in advanced maternal age. BJOG. 2020 Jan 12. doi:10.1111/1471-0528.16089. [Epub ahead of print] PubMed PMID: 31930663.

2019

Mitrakos A, Kattamis A, Katsibardi K, Papadhimitriou S, Kitsiou-Tzeli S, Kanavakis E, Tzetis M. High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients. Leuk Res. 2019 Aug;83:106177.

 

Kelaidi C, Makis A, Petrikkos L, Antoniadi K, Selenti N, Tzotzola V, Ioannidou ED, Tsitsikas K, Kitra V, Kalpini-Mavrou A, Fryssira H, Polychronopoulou S. Bone Marrow Failure in Fanconi Anemia: Clinical and Genetic Spectrum in a Cohort of 20 Pediatric Patients. J Pediatr Hematol Oncol. 2019 Nov;41(8):612-617.

 

Sfougataki I, Grafakos I, Varela I, Mitrakos A, Karagiannidou A, Tzannoudaki M, Poulou M, Mertzanian A, Roubelakis G M, Stefanaki K, Traeger-Synodinos J, Kanavakis E, Kitra V, Tzetis M, Goussetis E. Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA kit. Blood Cells Mol Dis. 2019 May;76:32-39.

 

Rampias T, Karagiannis D, Avgeris M, Polyzos A, Kokkalis A, Kanaki Z, Kousidou E, Tzetis M, Kanavakis E, Stravodimos K, Manola KN, Pantelias GE, Scorilas A, Klinakis A. The lysine-specific methyltransferase KMT2C/MLL3 regulates DNA repair components in cancer. EMBO Rep. 2019 Mar;20(3). pii: e46821. doi: 10.15252/embr.201846821. Epub 2019 Jan 21. PubMed

 

Kosma K, Mitrakos A, Sofokleous C, Papadimas G, Fryssira H, Kitsiou-Tzeli S, Tzetis M. A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array. Neuropediatrics. 2019 Feb;50(1):61-63. doi: 10.1055/s-0038-1676513. Epub 2018 Dec 12.

Schönewolf-Greulich B, Bisgaard AM, Dunø M, Jespersgaard C, Rokkjaer M, Hansen LK, Tsoutsou E, Sofokleous C, Topcu M, Kaur S, Van Bergen NJ, Brøndum-Nielsen K, Larsen MJ, Sørensen KP, Christodoulou J, Fagerberg CR, Tümer Z. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements. Clin Genet. 2019 Mar;95(3):403-408. doi: 10.1111/cge.13473. Epub 2018 Dec 7.

Traeger-Synodinos J, Vrettou C, Kanavakis E. Rapid Detection of Fetal Mendelian Disorders: Thalassemia and Sickle Cell Syndromes. Methods Mol Biol. 2019;1885:207-219.

Goumenos A, Tsoutsou E, Traeger-Synodinos J, Petychakis D, Gavra M, Kolialexi  A, Frysira H. Two novel variants in the TCF12 gene identified in cases with craniosynostosis. Appl Clin Genet. 2019 Feb 12;12:19-25. doi: 10.2147/TACG.S190855.

Traeger-Synodinos J, Bosch CAJ, Vrettou C, Maragoudaki L, Apostolidis J, Kanavakis E, Kattamis C, Arkesteijn SGJ, Hoffer MJV, Ruivenkamp CAL, Harteveld CL. Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β-globin locus. Br J  Haematol. 2019 Sep;186(6):e165-e170.

Makis A, Georgiou I, Traeger-Synodinos J, Storino MR, Giuliano M, Andolfo I,Hatzimichael E, Chaliasos N, Giapros V, Izzo P, Iolascon A, Grosso M. A Novelεγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and aβ-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a GreekFamily. Hemoglobin. 2019 Dec 12:1-4. doi: 10.1080/03630269.2019.1699568. [Epubahead of print] PubMed PMID: 31829079.

 

2018

Tsipi M, Poulou M, Fylaktou I, Kosma K, Tsoutsou E, Pons MR, Kokkinou E, Kitsiou-Tzeli S, Fryssira H, Tzetis M. Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA. J Neurol Sci. 2018 Dec 15;395:95-105. doi: 10.1016/j.jns.2018.10.006. Epub 2018 Oct 4. PubMed PMID: 30308447.

2: Verpoest W, Staessen C, Bossuyt PM, Goossens V, Altarescu G, Bonduelle M, Devesa M, Eldar-Geva T, Gianaroli L, Griesinger G, Kakourou G, Kokkali G, Liebenthron J, Magli MC, Parriego M, Schmutzler AG, Tobler M, van der Ven K, Geraedts J, Sermon K. Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial. Hum Reprod. 2018 Sep 1;33(9):1767-1776. doi: 10.1093/humrep/dey262. PubMed PMID: 30085138.

3: Kellaris G, Khan K, Baig SM, Tsai IC, Zamora FM, Ruggieri P, Natowicz MR, Katsanis N. A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. Hum Genomics. 2018 Mar 1;12(1):11. doi: 10.1186/s40246-018-0141-y. PubMed PMID: 29490693; PubMed Central PMCID: PMC5831694.

4: Papadopoulos C, Kekou K, Xirou S, Kitsiou-Tzeli S, Kararizou E, Papadimas GK. Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients. Eye (Lond). 2018 Mar;32(3):622-625. doi: 10.1038/eye.2017.280. Epub 2017 Dec 8. PubMed PMID: 29219952; PubMed Central PMCID: PMC5848294.

5: Kakourou G, Kahraman S, Ekmekci GC, Tac HA, Kourlaba G, Kourkouni E, Sanz AC,  Martin J, Malmgren H, Giménez C, Gold V, Carvalho F, Billi C, Chow JFC, Vendrell  X, Kokkali G, Liss J, Steffann J, Traeger-Synodinos J. The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study. Hum Reprod. 2018 Mar 1;33(3):520-530.

6: Vrettou C, Kakourou G, Mamas T, Traeger-Synodinos J. Prenatal and preimplantation diagnosis of hemoglobinopathies. Int J Lab Hematol. 2018 May;40 Suppl 1:74-82.