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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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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A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report von Malekkou, Anna, Tomazou, Marios, Mavrikiou, Gavriella, Dionysiou, Maria, Georgiou, Theodoros, Papaevripidou, Ioannis, Alexandrou, Angelos, Sismani, Carolina, Drousiotou, Anthi, Grafakou, Olga, Petrou, Petros P

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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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Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene von Alexandrou, Angelos, Salameh, Nicole, Papaevripidou, Ioannis, Nicolaou, Nayia, Myrianthopoulos, Panayiotis, Ketoni, Andria, Kousoulidou, Ludmila, Anastasiou, Anna-Maria, Evangelidou, Paola, Tanteles, George A, 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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FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation von KOUMBARIS, George, HATZISEVASTOU-LOUKIDOU, Hariklia, SKORDIS, Nicos, ANTONIOU, Pavlos, KURG, Ants, GEORGIOU, Loannis, CARTER, Nigel P, PATSALIS, Philippos C, ALEXANDROU, Angelos, LOANNIDES, Marios, CHRISTODOULOU, Christodoulos, FITZGERALD, Tomas, RAJAN, Diana, CLAYTON, Stephen, KITSIOU-TZELI, Sophia, VERMEESCH, Joris R

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Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata von Drousiotou, Anthi, Tanteles, George A., Sismani, Carolina, Krasia, Maria, Christodoulides, Theodoros, Savva, Isavella, Spanou-Aristidou, Elena, Alexandrou, Angelos, Mavrikiou, Gavriella, Georgiou, Theodoros, Anastasiadou, Violetta

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A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus von Velissariou, Voula, Donoghue, Jacqueline, Evangelidou, Paola, Alexandrou, Angelos, Christopoulou, Georgia, Sismani, Carolina, Konstantinidou, Anastasia E.

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Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3 von Papacostas, Savvas S., Anastasiadou, Violetta, Evangelidou, Paola, Alexandrou, Angelos, Christou, Yiolanda, Nikolaou, Elpiniki, Tanteles, George A., Sismani, Carolina

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An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular a... von Evangelidou, Paola, Kousoulidou, Ludmila, Salameh, Nicole, Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna-Maria, Ketoni, Andria, Ioannidou, Charithea, Christophidou -Anastasiadou, Violetta, Tanteles, George A., Sismani, Carolina

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Two unrelated individuals carrying rare mosaic deletions in TCF4 gene von Kousoulidou, Ludmila, Alexandrou, Angelos, Papaevripidou, Ioannis, Evangelidou, Paola, Tanteles, George, Anastasiadou, Violetta C., 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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Partial MEF2C deletion in a Cypriot patient with severe intellectual disability and a jugular fossa malformation: Review of the literature von Tanteles, George A., Alexandrou, Angelos, Evangelidou, Paola, Gavatha, Marina, Anastasiadou, Violetta, Sismani, Carolina

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Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature von Koufaris, Costas, Alexandrou, Angelos, Sismani, Carolina, Skordis, Nicos

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Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature von Patsalis, Philippos C., Sismani, Carolina, Kallikas, Ioannis, Koumbaris, George, Antoniou, Pavlos, Ioannides, Marios, Moutafi, Maria, Alexandrou, Angelos, Evangelidou, Paola, Velissariou, Voula

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Deletion of SNURF/SNRPN U1B and U1B upstream exons in a child with developmental delay and excessive weight von KOUFARIS, COSTAS, ALEXANDROU, ANGELOS, PAPAEVRIPIDOU, IOANNIS, ALEXANDROU, IOANNA, CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA, SISMANI, CAROLINA

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