Hemoglobinopathies and preimplantation diagnostics von Mamas, Thalia, Kakourou, Georgia, Vrettou, Christina, Traeger‐Synodinos, Joanne

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Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel von Kountouris, Petros, Stephanou, Coralea, Lederer, Carsten W., Traeger‐Synodinos, Joanne, Bento, Celeste, Harteveld, Cornelis L., Fylaktou, Eirini, Koopmann, Tamara T., Halim‐Fikri, Hashim, Michailidou, Kyriaki, Nfonsam, Landry E., Waye, John S., Zilfalil, Bin A., Kleanthous, Marina

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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 disorder... von Marinakis, Nikolaos M., Svingou, Maria, Veltra, Danai, Kekou, Kyriaki, Sofocleous, Christalena, Tilemis, Faidon‐Nikolaos, Kosma, Konstantina, Tsoutsou, Eirini, Fryssira, Helen, Traeger‐Synodinos, Joanne

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Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier von Marinakis, Nikolaos M., Svingou, Maria, Papadimas, Giorgos‐Konstantinos, Papadopoulos, Constantinos, Chroni, Elisabeth, Pons, Roser, Pavlou, Evangelos, Sarmas, Ioannis, Kosma, Konstantina, Apostolou, Paraskevi, Sofocleous, Christalena, Traeger‐Synodinos, Joanne, Kekou, Kyriaki

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A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype von Veltra, Danai, Kosma, Konstantina, Papavasiliou, Antigoni, Tilemis, Faidon‐Nikolaos, Traeger‐Synodinos, Joanne, Sofocleous, Christalena

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Mutations in the chromatin-associated protein ATRX von Gibbons, Richard J, Wada, Takahito, Fisher, Christopher A, Malik, Nicola, Mitson, Matthew J, Steensma, David P, Fryer, Alan, Goudie, David R, Krantz, Ian D, Traeger-Synodinos, Joanne

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Evaluation of in silico predictors on short nucleotide variants in HBA1 , HBA2 , and HBB associated with haemoglobinopathies von Tamana, Stella, Xenophontos, Maria, Minaidou, Anna, Stephanou, Coralea, Harteveld, Cornelis L, Bento, Celeste, Traeger-Synodinos, Joanne, Fylaktou, Irene, Yasin, Norafiza Mohd, Abdul Hamid, Faidatul Syazlin, Esa, Ezalia, Halim-Fikri, Hashim, Zilfalil, Bin Alwi, Kakouri, Andrea C, Kleanthous, Marina, Kountouris, Petros

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Adult‐onset beta‐thalassaemia intermedia caused by a 5‐Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β‐globin locus von Traeger‐Synodinos, Joanne, Bosch, Cathy A. J., Vrettou, Christina, Maragoudaki, Lena, Apostolidis, Janos, Kanavakis, Emmanuel, Kattamis, Christos, Arkesteijn, Sandra G. J., Hoffer, Mariëtte J. V., Ruivenkamp, Claudia A. L., Harteveld, Cornelis L.

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SDH‐deficient renal cell carcinoma: A case report associated with a novel germline mutation von Milionis, Vassilis, Goutas, Dimitrios, Vlachodimitropoulos, Dimitrios, Katsoulas, Nikolaos, Kyriazis, Iason D., Liatsikos, Evangelos N., Marinakis, Nikolaos, Joanne, Traeger‐Synodinos, Lazaris, Andreas C., Goutas, Nikolaos

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PB2532: VARIABLE HEMATOLOGICAL AND CLINICAL PHENOTYPES IN DOUBLE HETEROZYGOTES OF ΒETA‐THALASSEMIA AND TRIPLICATED ΑLPHA‐GLOBIN GENES von Delaporta, Polyxeni, Vrettou, Christina, Chouliara, Vasiliki, Chatzieleftheriou, Maria‐Ioanna, Kyriakopoulou, Dimitra, Moraki, Maria, Traeger‐Synodinos, Joanne, Kattamis, Antonis

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Pre-implantation genetic diagnosis von Traeger-Synodinos, Joanne, BSc, DPhil (Oxon)

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Impact of α-Globin Gene Expression and α-Globin Modifiers on the Phenotype of β-Thalassemia and Other Hemoglobinopathies: Implications for Patient Management von Traeger-Synodinos, Joanne, Vrettou, Christina, Sofocleous, Christalena, Zurlo, Matteo, Finotti, Alessia, Gambari, Roberto

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An Update on Non-invasive Approaches for Genetic Testing of the Preimplantation Embryo von Kakourou, Georgia, Mamas, Thalia, Vrettou, Christina, Traeger-Synodinos, Joanne

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SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations von Veltra, Danai, Theodorou, Virginia, Katsalouli, Marina, Vorgia, Pelagia, Niotakis, Georgios, Tsaprouni, Triantafyllia, Pons, Roser, Kosma, Konstantina, Kampouraki, Afroditi, Tsoutsou, Irene, Makrythanasis, Periklis, Kekou, Kyriaki, Traeger-Synodinos, Joanne, Sofocleous, Christalena

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Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity von Papadatou, Ioanna, Marinakis, Nikolaos, Botsa, Evanthia, Tzanoudaki, Marianna, Kanariou, Maria, Orfanou, Irene, Kanaka-Gantenbein, Christina, Traeger-Synodinos, Joanne, Spoulou, Vana

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Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia von Harteveld, Cornelis L, Achour, Ahlem, Fairuz Mohd Hasan, Nik Fatma, Legebeke, Jelmer, Arkesteijn, Sandra J G, Huurne, Jeanet Ter, Verschuren, Maaike, Bhagwandien-Bisoen, Sharda, Schaap, Rianne, Vijfhuizen, Linda, Idrissi, Hakima El, Babbs, Christian, Higgs, Douglas R, Koopmann, Tamara T, Vrettou, Christina, Traeger-Synodinos, Joanne, Baas, Frank

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A Greek National Cross-Sectional Study on Myotonic Dystrophies von Papadimas, Georgios K, Papadopoulos, Constantinos, Kekou, Kyriaki, Kartanou, Chrisoula, Kladi, Athina, Nitsa, Evangelia, Sofocleous, Christalena, Tsanou, Evangelia, Sarmas, Ioannis, Kaninia, Stefania, Chroni, Elisabeth, Tsivgoulis, Georgios, Kimiskidis, Vasilios, Arnaoutoglou, Marianthi, Stefanis, Leonidas, Panas, Marios, Koutsis, Georgios, Karadima, Georgia, Traeger-Synodinos, Joanne

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Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature von Veltra, Danai, Marinakis, Nikolaos M, Kotsios, Ioannis, Delaporta, Polyxeni, Kekou, Kyriaki, Kosma, Konstantina, Traeger-Synodinos, Joanne, Sofocleous, Christalena

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ENaC gene variants and their involvement in Covid‑19 severity von Koniari, Eleni, Hatziagapiou, Kyriaki, Nikola, Alexandra Olti, Georgoulia, Konstantina, Marinakis, Nikolaos, Bakakos, Petros, Athanasopoulou, Athanasia, Koromilias, Athanasios, Rovina, Nikoletta, Efthymiou, Vasiliki, Papakonstantinou, Eleni, Vlachakis, Dimitrios, Mavrikou, Sophia, Koutsoukou, Antonia, Traeger-Synodinos, Joanne, Chrousos, George P

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Reprogramming of bone marrow derived mesenchymal stromal cells to human induced pluripotent stem cells from pediatric patients with hematological diseases using a commercial mRNA k... von Sfougataki, Irene, Grafakos, Ioannis, Varela, Ioanna, Mitrakos, Anastasios, Karagiannidou, Angeliki, Tzannoudaki, Marianna, Poulou, Myrto, Mertzanian, Anny, Roubelakis G., Maria, Stefanaki, Kalliope, Traeger-Synodinos, Joanne, Kanavakis, Emmanuel, Kitra, Vasiliki, Tzetis, Maria, Goussetis, Evgenios

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