The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review by Iordanis Pelagiadis, Ioannis Kyriakidis, Nikolaos Katzilakis, Chrysoula Kosmeri, Danai Veltra, Christalena Sofocleous, Stavros Glentis, Antonis Kattamis, Alexandros Makis, Eftichia Stiakaki

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A Novel Variant in the <i>TP53</i> Gene Causing Li–Fraumeni Syndrome by Dimitrios T. Papadimitriou, Constantine A. Stratakis, Antonis Kattamis, Stavros Glentis, Constantine Dimitrakakis, George P. Spyridis, Panagiotis Christopoulos, George Mastorakos, Nikolaos F. Vlahos, Nicoletta Iacovidou

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P798: DIAMOND BLACKFAN ANEMIA MAY ESCAPE DIAGNOSIS UP TO ADULTHOOD; A REPORT FROM THE UPDATED GREEK REGISTRY by Polyxeni Delaporta, Christalena Sofocleous, Stavros Glentis, Danai Veltra, Sophia Polychronopoulou, Lydia Kossiva, Alexandros Makis, Marina Economou, Nikolaos Katzilakis, Eftychia Steiakaki, Theodoros Marinakis, Stavroula Kostaridou, Antonis Kattamis

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Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population by Konstantinos Rouskas, Efthymia A. Katsareli, Charalampia Amerikanou, Alexandros C. Dimopoulos, Stavros Glentis, Alexandra Kalantzi, Anargyros Skoulakis, Nikolaos Panousis, Halit Ongen, Deborah Bielser, Alexandra Planchon, Luciana Romano, Vaggelis Harokopos, Martin Reczko, Panagiotis Moulos, Ioannis Griniatsos, Theodoros Diamantis, Emmanouil T. Dermitzakis, Jiannis Ragoussis, George Dedoussis, Antigone S. Dimas

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Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome by Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski

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The impact of methylome analysis on the diagnosis and treatment of CNS tumours in children and adolescents: A population-based study in Greece by Maria Filippidou, Stavros Glentis, Ilona Binenbaum, Martin Sill, Kleoniki Roka, Antonia Vlachou, Georgia Avgerinou, Jonas Ecker, Florian Selt, Martin Hasselblatt, Mirjam Blattner-Johnson, Kathrin Schramm, Clio Trougkou, Dimitrios Doganis, Nikolaos Katzilakis, Vita Ridola, Evgenia Papakonstantinou, Vassilios Papadakis, Emmanouel Hatzipantelis, Eleftheria Kokkinou, Roser Pons, Christina Kanaka-Gantenbein, Dominik Sturm, Steffen Hirsch, Nicola Dikow, Kristian W. Pajtler, Cornelis M. van Tilburg, Michael C. Frühwald, Till Milde, Olaf Witt, David T.W. Jones, Andreas Von Deimling, Felix Sahm, Kalliopi Stefanaki, Stefan M. Pfister, Antonis Kattamis

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