| The PRINTS database: a fine-grained protein sequence annotation and analysis resource—its status in 2012 TK Attwood, A Coletta, G Muirhead, A Pavlopoulou, PB Philippou, I Popov, ... Database 2012, bas019, 2012 | 181 | 2012 |
| Accurate breakpoint mapping in apparently balanced translocation families with discordant phenotypes using whole genome mate-pair sequencing C Aristidou, C Koufaris, A Theodosiou, M Bak, MM Mehrjouy, F Behjati, ... PLoS One 12 (1), e0169935, 2017 | 43 | 2017 |
| Evolutionary scenarios of Notch proteins A Theodosiou, S Arhondakis, M Baumann, S Kossida Molecular biology and evolution 26 (7), 1631-1640, 2009 | 43 | 2009 |
| Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases C Aristidou, A Theodosiou, M Bak, MM Mehrjouy, E Constantinou, ... PLoS One 13 (10), e0205298, 2018 | 19 | 2018 |
| Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement C Aristidou, A Theodosiou, A Ketoni, M Bak, MM Mehrjouy, N Tommerup, ... Molecular Cytogenetics 11, 1-8, 2018 | 16 | 2018 |
| First reported case of Steel syndrome in the European population: a novel homozygous mutation in COL27A1 and review of the literature E Kritioti, A Theodosiou, N Nicolaou, A Alexandrou, I Papaevripidou, ... European Journal of Medical Genetics 63 (7), 103939, 2020 | 12 | 2020 |
| LaTcOm: a web server for visualizing rare codon clusters in coding sequences A Theodosiou, VJ Promponas Bioinformatics 28 (4), 591-592, 2012 | 12 | 2012 |
| Novel pericentric inversion inv (9)(p23q22. 3) in unrelated individuals with fertility problems in the Southeast European population C Sismani, SM Rapti, P Iliopoulou, A Spring, R Neroutsou, M Lagou, ... Journal of Human Genetics 65 (9), 783-795, 2020 | 10 | 2020 |
| Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population E Kritioti, A Theodosiou, T Parpaite, A Alexandrou, N Nicolaou, ... Plos one 16 (7), e0253562, 2021 | 5 | 2021 |
| De novo mosaic MECP2 mutation in a female with Rett syndrome A Alexandrou, I Papaevripidou, IM Alexandrou, A Theodosiou, ... Clinical Case Reports 7 (2), 366, 2019 | 4 | 2019 |
| GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing A Malekkou, A Theodosiou, A Alexandrou, I Papaevripidou, C Sismani, ... Molecular Genetics and Metabolism Reports 36, 100997, 2023 | 1 | 2023 |
| Exploring the genetic causality of discordant phenotypes in familial apparently balanced translocation cases using whole exome sequencing C Aristidou, A Theodosiou, A Alexandrou, I Papaevripidou, P Evangelidou, ... Genes 14 (1), 82, 2022 | 1 | 2022 |
| Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies A Hadjipanteli, A Theodosiou, I Papaevripidou, P Evangelidou, ... Genes 15 (1), 119, 2024 | | 2024 |
| Apparently benign cryptic complexity in an affected carrier of a de novo translocation C Aristidou, M Paraskevopoulou, L Kousoulidou, A Theodosiou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 604-605, 2024 | | 2024 |
| Case report demonstrating certain pitfalls and challenges in NGS data interpretation A Theodosiou, A Alexandrou, I Papaevripidou, L Kousoulidou, C Aristidou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 457-457, 2024 | | 2024 |
| Fetal genetic factors associated with sonographic abnormalities and pregnancy loss A Hadjipanteli, A Theodosiou, I Papaevripidou, P Evangelidou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 103-104, 2024 | | 2024 |
| CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report E Angelopoulou, A Theodosiou, I Papaevripidou, A Alexandrou, T Liehr, ... Heliyon 9 (12), 2023 | | 2023 |
| NFIB-associated intellectual disability and/or speech delay: first report of two novel structural variant disruptions C Aristidou, M Pantelidou, L Kousou-Lidou, A Theodosiou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 247-248, 2022 | | 2022 |
| Investigating the" dark" genome reveals the first family with Partington syndrome in Cyprus C Aristidou, A Theodosiou, E Spanou-Aristidou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 231-231, 2022 | | 2022 |
| Combined comprehensive approach in patients within Rett/Angelman phenotypic spectrum A Alexandrou, A Theodosiou, I Papaevripidou, A Chrysanthou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 365-365, 2020 | | 2020 |
