5610480 TRANSFORMATION OF THALASSAEMIA GENETIC TESTING BY THE IMPLEMENTATION OF NGS‐BASED THALASSEMIA ASSAY von Papasavva, T., Christopoulos, G., Petrou, M., Feleki, X., Karitzi, E., Byrou, S., Haughey, C., Vanherberghen, B., Ahlford, A., Kleanthous, M.

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Case report: Rethinking NGS analysis in diagnosing Diamond-Blackfan anemia syndrome von Papasavva, Panayiota L, Kaouranis, Konstantinos, Byrou, Stefania, Constantinou, Constantina G, Efrosini, Iacovou, Kleanthous, Marina, Lederer, Carsten W, Papasavva, Thessalia

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Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia von Byrou, Stefania, Makrigiorgos, G Mike, Christofides, Agathoklis, Kallikas, Ioannis, Papasavva, Thessalia, Kleanthous, Marina

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Optimized Droplet Digital PCR Assay on Cell-Free DNA Samples for Non-Invasive Prenatal Diagnosis: Application to Beta-Thalassemia von Constantinou, Constantina G, Karitzi, Eleni, Byrou, Stefania, Stephanou, Coralea, Michailidou, Kyriaki, Makariou, Christiana, Hadjilambi, Georgia, Christofides, Agathoklis, Kleanthous, Marina, Papasavva, Thessalia

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Direct Chromosomal Phasing: An Easy and Fast Approach for Broadening Prenatal Diagnostic Applicability von Byrou, Stefania, Christopoulos, George, Christofides, Agathoklis, Makariou, Christiana, Ioannou, Christiana, Kleanthous, Marina, Papasavva, Thessalia

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Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of [beta]-thalassae... von Byrou, Stefania, Makrigiorgos, G. Mike, Christofides, Agathoklis, Kallikas, Ioannis, Papasavva, Thessalia, Kleanthous, Marina

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Evidence of digenic inheritance in autoinflammation-associated genes von NEOCLEOUS, VASSOS, BYROU, STEFANIA, TOUMBA, MEROPI, COSTI, CONSTANTINA, SHAMMAS, CHRISTOS, KYRIAKOU, CHRISTINA, CHRISTOPHIDOU-ANASTASIADOU, VIOLETTA, TANTELES, GEORGE A., HADJIPANAYIS, ADAMOS, PHYLACTOU, LEONIDAS A.

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Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation von Shammas, Christos, Byrou, Stefania, Phelan, Marie M., Toumba, Meropi, Stylianou, Charilaos, Skordis, Nicos, Neocleous, Vassos, Phylactou, Leonidas A.

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