| 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 | 31 | 2021 |
| Case report: a novel synonymous ARPC1B gene mutation causes a syndrome of combined immunodeficiency, asthma, and allergy with significant intrafamilial clinical heterogeneity I Papadatou, N Marinakis, E Botsa, M Tzanoudaki, M Kanariou, I Orfanou, ... Frontiers in immunology 12, 634313, 2021 | 16 | 2021 |
| SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation V Milionis, D Goutas, D Vlachodimitropoulos, AC Lazaris, I Kyriazis, ... Authorea Preprints, 2021 | 5 | 2021 |
| The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders A Saffari, T Lau, H Tajsharghi, EG Karimiani, A Kariminejad, S Efthymiou, ... Brain 146 (8), 3273-3288, 2023 | 4 | 2023 |
| 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 | 2 | 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 | 2 | 2023 |
| Population variability of rhesus macaque (Macaca mulatta) NAT1 gene for arylamine N-acetyltransferase 1: Functional effects and comparison with human S Boukouvala, Z Chasapopoulou, D Giannouri, E Kontomina, N Marinakis, ... Scientific Reports 9 (1), 10937, 2019 | 2 | 2019 |
| 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 |
| 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 | 1 | 2023 |
| Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene NM Marinakis, E Tsoutsou, C Sofocleous, D Veltra, P Papaefthimiou, ... Menopause 29 (4), 491-495, 2022 | 1 | 2022 |
| Genetically confirmed coexistence of neurofibromatosis type 1 and Cherubism in a pediatric patient S Sarantou, NM Marinakis, J Traeger-Synodinos, E Siomou, ... Molecular Biology Reports 51 (1), 216, 2024 | | 2024 |
| Adolescent with multiple benign skin lesions, cutaneous angiosarcoma and multiple thyroid nodules. what is the diagnosis? E Dikaiakou, E Magkou, M Servitzoglou, M Vakaki, P Makrythanasis, ... Endocrine Abstracts 99, 2024 | | 2024 |
| Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals DE Layo-Carris, EE Lubin, AK Sangree, KJ Clark, EL Durham, ... European Journal of Human Genetics, 1-10, 2024 | | 2024 |
| De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke T Brunet, B Zott, V Lieftüchter, D Lenz, A Schmidt, P Peters, R Kopajtich, ... Genetics in Medicine 26 (2), 101013, 2024 | | 2024 |
| Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome V Salpietro, R Maroofian, MS Zaki, J Wangen, A Ciolfi, S Barresi, ... The American Journal of Human Genetics 111 (1), 200-210, 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 |
| 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 |
| A Novel Variant of the CYCS Gene Alters Apoptosis of Megakaryocytes in a Family with Thrombocytopenia K Giavi, S Glentis, A Bouchla, A Apostolidou, NM Marinakis, A Kattamis, ... Blood 142, 5409, 2023 | | 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 | | 2023 |
| A Rare Heterozygous LZTR1 Mutation in an Infant with Noonan Syndrome D Rallis, M Baltogianni, EE Christou, P Zafeiropoulos, N Marinakis, ... Journal of Case Reports 12 (3), 73-77, 2022 | | 2022 |
