| Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications V Oikonomakis, K Kosma, A Mitrakos, C Sofocleous, P Pervanidou, ... Clinical genetics 89 (6), 708-718, 2016 | 46 | 2016 |
| The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients A Pantou, A Mitrakos, G Kokkali, K Petroutsou, G Tounta, L Lazaros, ... Journal of Assisted Reproduction and Genetics 39 (6), 1341-1349, 2022 | 26 | 2022 |
| The evolutionary history of the Mediterranean centipede Scolopendra cingulata (Latreille, 1829) (Chilopoda: Scolopendridae) across the Aegean archipelago SM Simaiakis, A Dimopoulou, A Mitrakos, M Mylonas, A Parmakelis Biological Journal of the Linnean Society 105 (3), 507-521, 2012 | 25 | 2012 |
| Germline CNV detection through whole-exome sequencing (WES) Data Analysis enhances Resolution of Rare Genetic Diseases FN Tilemis, NM Marinakis, D Veltra, M Svingou, K Kekou, A Mitrakos, ... Genes 14 (7), 1490, 2023 | 23 | 2023 |
| Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley‐bixler syndrome phenotype in three … M Tzetis, A Konstantinidou, C Sofocleous, K Kosma, A Mitrakos, ... Birth Defects Research Part A: Clinical and Molecular Teratology 106 (7 …, 2016 | 14 | 2016 |
| High resolution Chromosomal Microarray Analysis (CMA) enhances the genetic profile of pediatric B-cell Acute Lymphoblastic Leukemia patients A Mitrakos, A Kattamis, K Katsibardi, S Papadhimitriou, S Kitsiou-Tzeli, ... Leukemia Research 83, 106177, 2019 | 13 | 2019 |
| Coffin-Siris syndrome 4-related spectrum in a young woman caused by a heterozygous SMARCA4 deletion detected by high-resolution aCGH A Mitrakos, L Lazaros, A Pantou, A Mavrou, E Kanavakis, M Tzetis Molecular Syndromology 11 (3), 141-145, 2020 | 10 | 2020 |
| Low-level X chromosome mosaicism: a common finding in women undergoing IVF S Zachaki, E Kouvidi, A Pantou, H Tsarouha, A Mitrakos, G Tounta, ... in vivo 34 (3), 1433-1437, 2020 | 10 | 2020 |
| Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial … I Sfougataki, I Grafakos, I Varela, A Mitrakos, A Karagiannidou, ... Blood Cells, Molecules, and Diseases 76, 32-39, 2019 | 7 | 2019 |
| 239-kb microdeletion spanning KMT2E in a child with developmental delay: further delineation of the phenotype K Kosma, K Varvagiannis, A Mitrakos, M Tsipi, J Traeger-Synodinos, ... Molecular Syndromology 12 (5), 321-326, 2021 | 5 | 2021 |
| A female patient with Xq28 microduplication presenting with myotubular myopathy, confirmed with a custom-designed X-array K Kosma, A Mitrakos, C Sofokleous, G Papadimas, H Fryssira, ... Neuropediatrics 50 (01), 061-063, 2019 | 5 | 2019 |
| Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms D Veltra, FN Tilemis, NM Marinakis, M Svingou, A Mitrakos, K Kosma, ... Expert Review of Molecular Diagnostics 23 (1), 85-103, 2023 | 3 | 2023 |
| Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly E Tsoutsou, M Tzetis, K Giannikou, M Braoudaki, A Mitrakos, S Amenta, ... Pediatric research 82 (2), 253-260, 2017 | 3 | 2017 |
| Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield? A Mitrakos, K Kosma, P Makrythanasis, M Tzetis Genes 14 (8), 1519, 2023 | 2 | 2023 |
| A novel paracentric inversion [inv (20)(q13. 1q13. 3)] accompanied by an 11q14. 3-q21 microdeletion in a pediatric patient with an intellectual disability S Zachaki, E Kouvidi, A Mitrakos, L Lazaros, A Pantou, A Mavrou, M Tzetis, ... Balkan Journal of Medical Genetics 21 (2), 63-67, 2018 | 2 | 2018 |
| The Phenotypic Spectrum of 16p11. 2 Recurrent Chromosomal Rearrangements AK Mitrakos, K Kosma, P Makrythanasis, M Tzetis Genes 15 (8), 1053, 2024 | 1 | 2024 |
| Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity K Kekou, M Svingou, N Vogiatzakis, E Nitsa, D Veltra, NM Marinakis, ... Expert Review of Molecular Diagnostics 23 (11), 999-1010, 2023 | 1 | 2023 |
| The Effect of 5-Azacitidine Treatment on the Biologic Characteristics of Bone Marrow Mesenchymal Stem Cells in Patients with Myelodysplastic Syndromes I Liapis, A Batsali, A Mitrakos, E Kouvidi, A Galanopoulos, C Pontikoglou, ... Blood 130, 4242, 2017 | 1 | 2017 |
| Elexacaftor/Tezacaftor/Ivacaftor Effect on a Patient With Rare Compound Heterozygous CFTR Splice Variant Genotype C.[1393‐1G> A; 2988+ 1G> A] M Moustaki, M Tzetis, A Mitrakos, T Mprantzos, I Loukou Pediatric Pulmonology 60 (1), e27498, 2025 | | 2025 |
| Nablus mask‐like facial syndrome: Report of an atypical case with 8q21. 3–q22. 1 deletion A Mitrakos, K Kekou, FN Tilemis, M Svingou, G Papadimas, C Sofocleous, ... American Journal of Medical Genetics Part A 194 (12), e63826, 2024 | | 2024 |
