Human molecular genetics, 31(24), 4131-4142. Oxford University Press Loberti, L, Bruno, L P, Granata, S, Doddato, G, Resciniti, S, Fava, F, Carullo, M, Rahikkala, E, Jouret, G, Menke, L A, Lederer, D, Vrielynck, P, Ryba, L, Brunetti-Pierri, N, Lasa-Aranzasti, A, Cueto-González, A M, Trujillano, L, Valenzuela, I, Tizzano, E F, Spinelli, A M, Bruno, I, Currò, A, Stanzial, F, Benedicenti, F, Lopergolo, D, Santorelli, F M, Aristidou, C, Tanteles, G A, Maystadt, I, Tkemaladze, T, Reimand, T, Lokke, H, Õunap, K, Haanpää, M K, Holubová, A, Zoubková, V, Schwarz, M, Žordania, R, Muru, K, Roht, L, Tihveräinen, A, Teek, R, Thomson, U, Atallah, I, Superti-Furga, A, Buoni, S, Canitano, R, Scandurra, V, Rossetti, A, Grosso, S, Battini, R, Baldassarri, M, Mencarelli, M A, Rizzo, C L, Bruttini, M, Mari, F, Ariani, F, Renieri, A & Pinto, A M 2022, ' Natural history of KBG syndrome in a large European cohort ', Human Molecular Genetics, vol. 31, no. 24, pp. 4131-4142 . https://doi.org/10.1093/hmg/ddac167 Human Molecular Genetics, 31(24), 4131-4142. Oxford University Press
PLOS ONE PLoS ONE, Vol 13, Iss 10, p e0205298 (2018) PLoS ONE Aristidou, C, Theodosiou, A, Bak, M, Mehrjouy, M M, Constantinou, E, Alexandrou, A, Papaevripidou, I, Christophidou-Anastasiadou, V, Skordis, N, Kitsiou-Tzeli, S, Tommerup, N & Sismani, C 2018, ' Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases ', PLOS ONE, vol. 13, no. 10, e0205298 . https://doi.org/10.1371/journal.pone.0205298
PLoS ONE PLoS ONE, Vol 12, Iss 1, p e0169935 (2017) PLOS ONE Aristidou, C, Koufaris, C, Theodosiou, A, Bak, M, Mehrjouy, M M, Behjati, F, Tanteles, G, Christophidou-Anastasiadou, V, Tommerup, N & Sismani, C 2017, ' Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing ', PLOS ONE, vol. 12, no. 1, e0169935 . https://doi.org/10.1371/journal.pone.0169935
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018) Aristidou, C, Theodosiou, A, Ketoni, A, Bak, M, Mehrjouy, M M, Tommerup, N & Sismani, C 2018, ' Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement ', Molecular Cytogenetics, vol. 11, 34 . https://doi.org/10.1186/s13039-018-0384-2 Molecular Cytogenetics