| Androgen insensitivity syndrome: clinical features and molecular defects A Galani, S Kitsiou-Tzeli, C Sofokleous, E Kanavakis, A Kalpini-Mavrou Hormones 7 (3), 217-229, 2008 | 240 | 2008 |
| Real‐time PCR for single‐cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic … C Vrettou, J Traeger‐Synodinos, M Tzetis, G Palmer, C Sofocleous, ... Human mutation 23 (5), 513-521, 2004 | 88 | 2004 |
| Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 A Vetro, MR Dehghani, L Kraoua, R Giorda, S Beri, L Cardarelli, M Merico, ... European Journal of Human Genetics 23 (8), 1025-1032, 2015 | 87 | 2015 |
| Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population S Amenta, C Sofocleous, A Kolialexi, L Thomaidis, S Giouroukos, ... Pediatric research 57 (6), 789-795, 2005 | 69 | 2005 |
| Mutation spectrum and phenotypic manifestation in FSHD Greek patients P Sakellariou, K Kekou, H Fryssira, C Sofocleous, P Manta, ... Neuromuscular Disorders 22 (4), 339-349, 2012 | 52 | 2012 |
| COMT and MTHFR polymorphisms interaction on cognition in schizophrenia: an exploratory study D Kontis, E Theochari, H Fryssira, S Kleisas, C Sofocleous, ... Neuroscience letters 537, 17-22, 2013 | 48 | 2013 |
| 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 | 45 | 2016 |
| Gonadoblastoma in a patient with del (9)(p22) and sex reversal: report of a case and review of the literature DVC Livadas S, Mavrou A, Sofocleous C, van-Vliet-Constandinidou C, Dracopoulou M Cancer genetics and cytogenetics 143 ((2)), 174-177, 2003 | 45 | 2003 |
| Microdeletion and microduplication 17q21. 31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH S Kitsiou-Tzeli, H Frysira, K Giannikou, A Syrmou, K Kosma, G Kakourou, ... Gene 492 (1), 319-324, 2012 | 42 | 2012 |
| De novo interstitial duplication of the 15q11. 2‐q14 PWS/AS region of maternal origin: clinical description, array CGH analysis, and review of the literature S Kitsiou‐Tzeli, M Tzetis, C Sofocleous, C Vrettou, A Xaidara, K Giannikou, ... American Journal of Medical Genetics Part A 152 (8), 1925-1932, 2010 | 42 | 2010 |
| The genetic etiology in cerebral palsy mimics: the results from a Greek tertiary care center V Zouvelou, D Yubero, L Apostolakopoulou, E Kokkinou, M Bilanakis, ... European Journal of Paediatric Neurology 23 (3), 427-437, 2019 | 38 | 2019 |
| Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion S Psoni, C Sofocleous, J Traeger-Synodinos, S Kitsiou-Tzeli, E Kanavakis, ... Pediatric research 67 (5), 551-556, 2010 | 36 | 2010 |
| 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 |
| A novel p. Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder S Psoni, PJ Willems, E Kanavakis, A Mavrou, H Frissyra, ... european journal of paediatric neurology 14 (2), 188-191, 2010 | 31 | 2010 |
| Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia P Delaporta, C Sofocleous, E Stiakaki, S Polychronopoulou, M Economou, ... Pediatric Blood & Cancer 61 (12), 2249-2255, 2014 | 28 | 2014 |
| Molecular diagnosis of Fragile X syndrome C Sofocleous, A Kolialexi, A Mavrou Expert review of molecular diagnostics 9 (1), 23-30, 2009 | 28 | 2009 |
| Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism K Volaki, A Pampanos, S Kitsiou-Tzeli, C Vrettou, V Oikonomakis, ... Psychiatric Genetics 23 (5), 198-203, 2013 | 25 | 2013 |
| MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders S Psoni, C Sofocleous, J Traeger-Synodinos, S Kitsiou-Tzeli, E Kanavakis, ... Brain and Development 34 (6), 487-495, 2012 | 23 | 2012 |
| Non-Hodgkin lymphoma in a child with Williams syndrome S Amenta, M Moschovi, C Sofocleous, S Kostaridou, A Mavrou, H Fryssira Cancer genetics and cytogenetics 154 (1), 86-88, 2004 | 22 | 2004 |
| The Greek Registry of Shwachman Diamond‐Syndrome: Molecular and clinical data P Delaporta, C Sofocleous, M Economou, A Makis, S Kostaridou, ... Pediatric Blood & Cancer 64 (11), e26630, 2017 | 20 | 2017 |
