George Koumbaris, Elena Kypri, Kyriakos Tsangaras, Achilleas Achilleos, Petros Mina, Maria Neofytou, et al., and Philippos C Patsalis Cell-free DNA analysis of targeted genomic regions in maternal plasma for non-invasive prenatal testing of trisomy 21, trisomy 18, trisomy 13 and fetal gender. Clinical Chemistry 62:6, 848-855, 2016
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 Jun 11;13(6):e0199010. doi: 10.1371/journal.pone.0199010. eCollection 2018
Neofytou MC, Tsangaras K, Kypri E, Loizides C, Ioannides M, Achilleos A, Mina P, Keravnou A, Sismani C, Koumbaris G, Patsalis PC. 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. eCollection 2017.
Keravnou A, Ioannides M, Tsangaras K, Loizides C, Hadjidaniel MD, Papageorgiou EA, Kyriakou S, Antoniou P, Mina P, Achilleos A, Neofytou M, Kypri E, Sismani C, Koumbaris G, Patsalis PC. Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions. Genet Res (Camb). 2016 Nov 11;98:e15.
Koumbaris G, Kypri E, Tsangaras K, Achilleos A, Mina P, Neofytou M, Velissariou V, Christopoulou G, Kallikas I, González-Liñán A, Benusiene E, Latos-Bielenska A, Marek P, Santana A, Nagy N, Széll M, Laudanski P, Papageorgiou EA, Ioannides M, Patsalis PC. Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex. Clin Chem. 2016 Jun;62(6):848-55. doi: 10.1373/clinchem.2015.252502.
Ioannides M, Papageorgiou EA, Keravnou A, Tsaliki E, Spyrou C, Hadjidaniel M, Sismani C, Koumbaris G, Patsalis PC. Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS. Mol Cytogenet. 2014 Nov 1;7(1):73. doi: 10.1186/s13039-014-0073-8. eCollection 2014.
Papageorgiou EA, Koumbaris G, Kypri E, Hadjidaniel M, Patsalis PC. The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis. Genes (Basel). 2014 Apr 9;5(2):310-29. doi: 10.3390/genes5020310.
Antoniou P, Michalokopoulos S, Ioannides M, Papageorgio EA, Patsalis PC. Identifying Differentially Methylated Regions by efficient bit-masking of DNA microarrays to use as markers for Non Invasive Prenatal Diagnosis. Engineering Intelligent Systems. 2014 Mar; 22(1).
Kyriakou S, Kypri E, Spyrou C, Tsaliki E, Velissariou V, Papageorgiou EA, Patsalis PC. Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP qPCR methodology. Prenat Diagn. 2013 Apr 25. doi: 10.1002/pd.4140.
Papageorgiou EA, Tsaliki E, Koumbaris G, Patsalis PC. Author’s response regarding “MeDIP-qPCR approach for non-invasive prenatal diagnosis of Down syndrome: accuracy and reproducibility”. Prenat Diagn. 2013 Apr;33(4):404-5. doi: 10.1002/pd.4048.
Papageorgiou EA, Patsalis PC. Maternal plasma sequencing: a powerful tool towards fetal whole genome recovery. BMC Med. 2013 Feb 27;11(1):56. doi:10.1186/1741-7015-11-56.
Patsalis PC. Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis. Nat. Med. 2012 Sep 7;18(9):1328-9. doi: 10.1038/nm.2914.
Patsalis PC, Papageorgiou EA. Non-Invasive Prenatal Diagnosis (NIPD) of Down Syndrome using real time qPCR. ECA Newsletter, July 2012.
Velissariou V, Patsalis PC. The Future of Prenatal Diagnosis of Genetic Diseases of the Embryo: Non-Invasive Prenatal Diagnosis in free DNA of the Pregnant Woman. Medical Analects, July-September 15:713-717, 2012.
Patsalis PC. A new method for non-invasive prenatal diagnosis of Down Syndrome using MeDIP real time qPCR. Applied & Translational Genomics 1 (2012) 3-8, 2012.
Tsaliki E, Papageorgiou EA, Spyrou C, Koumbaris G, Kypri E, Kyriakou S, Sotiriou C, Touvana E, Keravnou A, Karagrigoriou A, Lamnissou K, Velissariou V, Patsalis PC. MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21. Prenat Diagn. 2012 Oct;32(10):996-1001 doi: 10.1002/pd.3947. [Epub 20, 12 Jul 26].
Papageorgiou EA, Patsalis PC. Non Invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. Genome Medicine. 2012 May 28;4(5):46. (Epub ahead of print).
Patsalis PC, Tsaliki E, Koumbaris G, Karagrigoriou A, Velissariou V, Papageorgiou EA. A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR. Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S155-61. Epub 2012 Apr 14.
Koumbaris G, Hatzisevastou-Loukidou H, Alexandrou A, Ioannides M, Christodoulou, C, Fitzgerald T, Rajan D, Clayton S, Kitsiou-Tzeli S, Vermeesch JR, Skordis N, Antoniou P, Kurg A, Georgiou I, Carter NP, Patsalis PC. FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation. Hum Mol Genet. 2011 May 15;20(10):1925-36. Epub 2011 Feb 24.
Papageorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nat Med. 2011 Apr;17(4):510-3. Epub 2011 Mar 6.