Unravelling the genetic causes of multiple malformation syndromes: A whole exome sequencing study of the Cypriot population von Kritioti, Evie, Theodosiou, Athina, Parpaite, Thibaud, Alexandrou, Angelos, Nicolaou, Nayia, Papaevripidou, Ioannis, Séjourné, Nina, Coste, Bertrand, Christophidou-Anastasiadou, Violetta, Tanteles, George A, Sismani, Carolina

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Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population von Sismani, Carolina, Rapti, Stamatia-Maria, Iliopoulou, Pavlina, Spring, Anastasia, Neroutsou, Rozalia, Lagou, Magdalini, Robola, Marianna, Tsitsopoulos, Efstathios, Kousoulidou, Ludmila, Alexandrou, Angelos, Papaevripidou, Ioannis, Theodosiou, Athina, Syrrou, Maria, Fuchs, Sigrid, Hempel, Maja, Huhle, Dagmar, Liehr, Thomas, Ziegler, Monika, Duesberg, Max, Velissariou, Voula

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Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing von Aristidou, Constantia, Koufaris, Costas, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M, Behjati, Farkhondeh, Tanteles, George, Christophidou-Anastasiadou, Violetta, Tommerup, Niels, Sismani, Carolina

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Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases von Aristidou, Constantia, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M, Constantinou, Efthymia, Alexandrou, Angelos, Papaevripidou, Ioannis, Christophidou-Anastasiadou, Violetta, Skordis, Nicos, Kitsiou-Tzeli, Sophia, Tommerup, Niels, Sismani, Carolina

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CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report von Angelopoulou, Eleni, Theodosiou, Athina, Papaevripidou, Ioannis, Alexandrou, Angelos, Liehr, Thomas, Gyftodimou, Yolanda, Stefanou, Eunice G., Sismani, Carolina

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First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature von Evie Kritioti, Athina Theodosiou, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Elisavet Efstathiou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Tanteles, George A.

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GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing von Malekkou, Anna, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Sismani, Carolina, Jacobs, Edwin H., Ruijter, George J.G., Anastasiadou, Violetta, Ourani, Sofia, Athanasiou, Emilia, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P.

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Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement von Aristidou, Constantia, Theodosiou, Athina, Ketoni, Andria, Bak, Mads, Mehrjouy, Mana M, Tommerup, Niels, Sismani, Carolina

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Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing von Aristidou, Constantia, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Evangelidou, Paola, Kosmaidou-Aravidou, Zoe, Behjati, Farkhondeh, Christophidou-Anastasiadou, Violetta, Tanteles, George A, Sismani, Carolina

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Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies von Hadjipanteli, Andrea, Theodosiou, Athina, Papaevripidou, Ioannis, Evangelidou, Paola, Alexandrou, Angelos, Salameh, Nicole, Kallikas, Ioannis, Kakoullis, Kyriakos, Frakala, Sofia, Oxinou, Christina, Marnerides, Andreas, Kousoulidou, Ludmila, Anastasiadou, Violetta C, Sismani, Carolina

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The PRINTS database: a fine-grained protein sequence annotation and analysis resource--its status in 2012 von Attwood, Teresa K, Coletta, Alain, Muirhead, Gareth, Pavlopoulou, Athanasia, Philippou, Peter B, Popov, Ivan, Romá-Mateo, Carlos, Theodosiou, Athina, Mitchell, Alex L

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LaTcOm: a web server for visualizing rare codon clusters in coding sequences von Theodosiou, Athina, Promponas, Vasilis J.

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Evolutionary Scenarios of Notch Proteins von Theodosiou, Athina, Arhondakis, Stilianos, Baumann, Marc, Kossida, Sophia

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De novo mosaic MECP2 mutation in a female with Rett syndrome von Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou‐Anastasiadou, Violetta, Sismani, Carolina

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De novo mosaic MECP 2 mutation in a female with Rett syndrome von Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou‐Anastasiadou, Violetta, Sismani, Carolina

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CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report von Angelopoulou, Eleni, Theodosiou, Athina, Papaevripidou, Ioannis, Alexandrou, Angelos, Liehr, Thomas, Gyftodimou, Yolanda, Stefanou, Eunice G, Sismani, Carolina

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GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing von Malekkou, Anna, Theodosiou, Athina, Alexandrou, Angelos, Papaevripidou, Ioannis, Sismani, Carolina, Jacobs, Edwin H, Ruijter, George J G, Anastasiadou, Violetta, Ourani, Sofia, Athanasiou, Emilia, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P

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De novo mosaic MECP2 mutation in a female with Rett syndrome von Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou-Anastasiadou, Violetta, Sismani, Carolina

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Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement von Aristidou, Constantia, Theodosiou, Athina, Ketoni, Andria, Bak, Mads, Mehrjouy, Mana M, Tommerup, Niels, Sismani, Carolina

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NALCN Promoter Methylation as a Biomarker for Metastatic Risk in a Cohort of Non-Small Cell Lung Cancer Patients von Thanou, Eleni, Lontra, Dora, Balgouranidou, Ioanna, Efthimiadou, Eleni, Delipetrou, Alexandra, Tsaroucha, Emilia, Theodosiou, Maria, Georgoulias, Vassilis, Kotsakis, Athanasios, Lianidou, Evi, Markou, Athina

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