| Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian … NM Marinakis, M Svingou, D Veltra, K Kekou, C Sofocleous, FN Tilemis, ... American Journal of Medical Genetics Part A 185 (8), 2561-2571, 2021 | 37 | 2021 |
| 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 | 17 | 2023 |
| A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype D Veltra, K Kosma, A Papavasiliou, FN Tilemis, J Traeger‐Synodinos, ... American Journal of Medical Genetics Part A 188 (12), 3563-3566, 2022 | 5 | 2022 |
| Identification of a novel IQCE large deletion through copy number variant analysis from whole-exome sequencing data of a patient with postaxial polydactyly Type A7 FN Tilemis, NM Marinakis, K Kosma, F Fostira, J Traeger-Synodinos Molecular Syndromology 14 (3), 225-230, 2023 | 3 | 2023 |
| 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 |
| 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 |
| Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome M Nikolaou, IA Vasilakis, NM Marinakis, FN Tilemis, A Zellos, ... Hormones 22 (3), 515-520, 2023 | 1 | 2023 |
| e-Posters EP01 Reproductive Genetics T Milachich, P Andreeva, Y Buchvarov, M Yunakova, T Timeva, A Shterev, ... European Journal of Human Genetics 31, 91-344, 2023 | 1 | 2023 |
| Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies NM Marinakis, FN Tilemis, D Veltra, M Svingou, C Sofocleous, K Kekou, ... European Journal of Human Genetics, 1-7, 2024 | | 2024 |
| Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children V Christodoulaki, K Kosma, NM Marinakis, FN Tilemis, N Stergiou, ... Genes 15 (8), 1016, 2024 | | 2024 |
| Increasing the diagnostic yield of Whole Exome Sequencing (WES) through CNV detection FN Tilemis, N Marinakis, D Veltra, M Svingou, K Kekou, A Mitrakos, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 636-636, 2024 | | 2024 |
| Reproductive Genetics Z Dashti, J Falahi, ME Parsanejad European Journal of Human Genetics 32, 349-795, 2024 | | 2024 |
| 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, e63826, 2024 | | 2024 |
| Estimating carrier and at-risk couple rates across a 1000-Greek Exome Sequencing Data cohort for the ACMG-ACOG proposed 176 Expanded Carrier Screening panel N Marinakis, FN Tilemis, M Svingou, D Veltra, K Kekou, C Sofocleous, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 357-357, 2024 | | 2024 |
| Digenic variant interpretation with hypothesis-driven explainable AI FD Paoli, G Nicora, S Berardelli, A Gazzo, R Bellazzi, P Magni, E Rizzo, ... bioRxiv, 2023.10. 02.560464, 2023 | | 2023 |
| GRIN2B novel de-novo variants the cause of patients with generalized severe hypotonia as primary referral condition FN Tilemis, NM Marinakis, M Svingou, K Kekou, K Kosma, MR Pons, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 458-458, 2022 | | 2022 |
