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G. Koumbaris · SciRah

Researcher profile · Semantic Scholar

G. Koumbaris

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G. Koumbaris — researcher profile on SciRah

h-index: 15
Works: 45
Citations: 672

Most-cited papers

A new single-locus cytogenetic mapping system for maize (Zea mays L.): overcoming FISH detection limits with marker-selected sorghum (S. propinquum L.) BAC clones.
G. Koumbaris, H. Bass
2003The Plant Journal69 citations Open access
Semantic Scholar
Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y‐chromosome instability
P. Patsalis, N. Skordis, C. Sismani, L. Kousoulidou +9 more
2005American Journal of Medical Genetics. Part A64 citations
Semantic Scholar
Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature
P. Evangelidou, Angelos Alexandrou, Maria Moutafi, M. Ioannides +6 more
2013BioMed Research International57 citations Open access
Semantic Scholar
Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
P. Evangelidou, C. Sismani, M. Ioannides, C. Christodoulou +5 more
2010Molecular Cytogenetics51 citations Open access
Semantic Scholar
MeDIP real‐time qPCR of maternal peripheral blood reliably identifies trisomy 21
E. Tsaliki, E. Papageorgiou, C. Spyrou, G. Koumbaris +9 more
2012Prenatal Diagnosis49 citations
Semantic Scholar
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.
G. Koumbaris, Elena Kypri, K. Tsangaras, A. Achilleos +16 more
2016Clinical Chemistry46 citations Open access
Semantic Scholar
Targeted capture enrichment assay for non-invasive prenatal testing of large and small size sub-chromosomal deletions and duplications
M. Neofytou, K. Tsangaras, Elena Kypri, Charalambos Loizides +7 more
2017PLoS ONE40 citations Open access
Semantic Scholar
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation
G. Koumbaris, H. Hatzisevastou-Loukidou, Angelos Alexandrou, M. Ioannides +12 more
2011Human Molecular Genetics39 citations Open access
Semantic Scholar
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases
G. Koumbaris, A. Achilleos, M. Nicolaou, Charalambos Loizides +12 more
2019Molecular Cytogenetics25 citations Open access
Semantic Scholar
A single gene deletion on 4q28.3: PCDH18--a new candidate gene for intellectual disability?
J. Kasnauskienė, Ž. Čiuladaitė, E. Preiksaitiene, A. Matulevičienė +6 more
2012European Journal of Medical Genetics21 citations Open access
Semantic Scholar
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.
C. Sismani, V. Anastasiadou, L. Kousoulidou, S. Parkel +6 more
2011European Journal of Medical Genetics21 citations
Semantic Scholar
The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis
E. Papageorgiou, G. Koumbaris, Elena Kypri, Michael D. Hadjidaniel +1 more
2014Genes18 citations Open access
Semantic Scholar
Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.
S. Kitsiou-tzeli, C. Sismani, G. Koumbaris, M. Ioannides +5 more
2008European Journal of Medical Genetics18 citations
Semantic Scholar
Clinical Significance of Germline Cancer Predisposing Variants in Unselected Patients with Pancreatic Adenocarcinoma
E. Fountzilas, A. Eliades, G. Koliou, A. Achilleos +31 more
2021Cancers16 citations Open access
Semantic Scholar
A Comprehensive Molecular Epidemiological Analysis of SARS-CoV-2 Infection in Cyprus from April 2020 to January 2021: Evidence of a Highly Polyphyletic and Evolving Epidemic
Andreas C. Chrysostomou, B. Vrancken, G. Koumbaris, G. Themistokleous +13 more
2021Viruses15 citations Open access
Semantic Scholar
Development of a new methylation‐based fetal fraction estimation assay using multiplex ddPCR
M. Ioannides, A. Achilleos, S. Kyriakou, Elena Kypri +5 more
2019Molecular Genetics & Genomic Medicine15 citations Open access
Semantic Scholar
Whole-genome fetal and maternal DNA methylation analysis using MeDIP-NGS for the identification of differentially methylated regions
Anna Keravnou, M. Ioannides, K. Tsangaras, Charalambos Loizides +11 more
2016Genetics Research13 citations Open access
Semantic Scholar
Inter-individual methylation variability in differentially methylated regions between maternal whole blood and first trimester CVS
M. Ioannides, E. Papageorgiou, Anna Keravnou, E. Tsaliki +5 more
2014Molecular Cytogenetics13 citations Open access
Semantic Scholar
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test
Elena Kypri, M. Ioannides, E. Touvana, Ioanna Neophytou +9 more
2019Molecular Cytogenetics11 citations Open access
Semantic Scholar
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
Anna Keravnou, M. Ioannides, Charalambos Loizides, K. Tsangaras +9 more
2018PLoS ONE10 citations Open access
Semantic Scholar
A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR
P. Patsalis, E. Tsaliki, G. Koumbaris, A. Karagrigoriou +2 more
2012Expert Opinion on Biological Therapy10 citations
Semantic Scholar
Loss of the Y chromosome PAR2 region and additional rearrangements in two familial cases of satellited Y chromosomes: cytogenetic and molecular analysis.
V. Velissariou, C. Sismani, S. Christopoulou, P. Kaminopetros +8 more
2007European Journal of Medical Genetics9 citations
Semantic Scholar
Non-invasive prenatal screening tests – update 2022
Elena Kypri, M. Ioannides, A. Achilleos, G. Koumbaris +2 more
2022Laboratoriums Medizin8 citations Open access
Semantic Scholar
Investigating TNNC1 gene inheritance and clinical outcomes through a comprehensive familial study
Constantinos Patsalis, S. Kyriakou, M. Georgiadou, Lygia Ioannou +8 more
2024American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
Genomic Epidemiology of the SARS-CoV-2 Epidemic in Cyprus from November 2020 to October 2021: The Passage of Waves of Alpha and Delta Variants of Concern
Andreas C. Chrysostomou, B. Vrancken, C. Haralambous, M. Alexandrou +19 more
2022Viruses5 citations Open access
Semantic Scholar
21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features.
P. Grigori, Elena Panayiotou, C. Sismani, G. Koumbaris +5 more
2011European Journal of Medical Genetics5 citations
Semantic Scholar
Anti-EGFR re-challenge with chemotherapy in RAS wild-type advanced colorectal cancer (A-REPEAT study): efficacy and correlations with tissue and plasma genotyping
J. Sgouros, A. Eliades, K. Papadopoulou, N. Korfiatis +14 more
2025ESMO gastrointestinal oncology4 citations Open access
Semantic Scholar
Investigation of Clinically Significant Molecular Aberrations in Patients with Prostate Cancer: Implications for Personalized Treatment, Prognosis and Genetic Testing
E. Fountzilas, Maria Kouspou, A. Eliades, K. Papadopoulou +28 more
2023International Journal of Molecular Sciences4 citations Open access
Semantic Scholar
Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin
Angelos Alexandrou, Ioannis Papaevripidou, K. Tsangaras, Ioanna Alexandrou +9 more
2016Journal Genetika4 citations Open access
Semantic Scholar
Prenatal diagnosis of a de novo partial trisomy 10p12.1–12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH
S. Kitsiou-tzeli, C. Sismani, M. Karkaletsi, L. Florentin +6 more
2008Prenatal Diagnosis4 citations
Semantic Scholar
Molecular profile and clinical features of patients with gliomas using a broad targeted next generation-sequencing panel.
Ourania Romanidou, Paraskevi Apostolou, K. Kouvelakis, K. Tsangaras +15 more
2022Oncology Letters2 citations Open access
Semantic Scholar
Comparison of targeted next generation sequencing assays in non-small cell lung cancer patients
Ieva Drejeriene, Jurate Gruode, S. Cicėnas, Charalambos Loizides +9 more
2024Discover Oncology1 citations Open access
Semantic Scholar
Molecular and clinical description of a girl with a 46,X,t(Y;4)(q11.2;p16)/45,X,der(4)t(Y;4)(q11.2;p16) karyotype and a small cryptic 4p subtelomeric deletion
L. Zahed, C. Sismani, M. Ioannides, Monzer Saleh +5 more
2008American Journal of Medical Genetics. Part A1 citations
Semantic Scholar
Integrated Molecular, Clinicopathological and Immune Profiling of Non-Small Cell Lung Cancer: The MONREPOS Hellenic Cooperative Oncology Group (HeCOG) Study (HE_2TR/13)
K. Efthymiadis, C. Soteriou, V. Kotoula, K. Papadopoulou +22 more
2026International Journal of Molecular Sciences0 citations Open access
Semantic Scholar
45P Deep learning model identifies lynch syndrome versus sporadic MSI-H from adenoma histology
S. Sainath, N. Reitsam, K. Papadopoulou, M. Kloor +15 more
2025ESMO Real World Data and Digital Oncology0 citations Open access
Semantic Scholar
Methylome and epigenetic markers
S. Kyriakou, M. Ioannides, G. Koumbaris, P. Patsalis
20190 citations
Semantic Scholar
Target-enriched multiplexed parallel analysis for assessment of tumor biomarkers
G. Koumbaris, M. Ioannides, Elena Kypri, A. Achilleos +4 more
20180 citations
Semantic Scholar
Analyse parallèle multiplexée de régions génomiques ciblées pour des tests prénataux non invasifs
G. Koumbaris, Elena Kypri, K. Tsangaras, A. Achilleos +3 more
20160 citations
Semantic Scholar
Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin
Angelos Alexandrou, Ioannis Papaevripidou, K. Tsangaras, Ioanna Alexandrou +9 more
2016Journal Genetika0 citations Open access
Semantic Scholar
Author's response regarding “MeDIP‐qPCR approach for non‐invasive prenatal diagnosis of Down syndrome: accuracy and reproducibility”
E. Papageorgiou, E. Tsaliki, G. Koumbaris, P. Patsalis
2013Prenatal Diagnosis0 citations
Semantic Scholar
Erratum: Prenatal diagnosis of a de novo partial trisomy 10p12.1–12.2 pter originating from an unbalanced translocation onto 15qter and confirmed with array CGH
S. Kitsiou-tzeli, C. Sismani, M. Karkaletsi, L. Florentin +6 more
20100 citations Open access
Semantic Scholar
X-chromosome disorders: identification of underlying mechanisms
P. Patsalis, G. Koumbaris, C. Hatzisevastou, A. Kurg +6 more
20090 citations
Semantic Scholar
O31: Array-MAPH: a novel microarray technology for genomic analysis
L. Kousoulidou, K. Männik, Stavros Bashiardis, G. Koumbaris +7 more
20050 citations
Semantic Scholar
Posters Presentations: P3-313–P3-500
E. Écosse, I. Bastié-Sigeac, S. Cabrol, M. Tauber +22 more
2004Hormone Research in Paediatrics0 citations Open access
Semantic Scholar
Chromosomal imbalance letter 9 Mb familial duplication in chromosome band Xp22.2e22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features
C. Sismani, V. Anastasiadou, L. Kousoulidou, S. Parkel +6 more
0 citations
Semantic Scholar

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