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
Published 2023-11-01

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
Published 2023-06-01

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
Published 2023-08-01

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
Published 2023-08-01

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer

by Stavros Glentis, Alexandros C. Dimopoulos, Konstantinos Rouskas, George Ntritsos, Evangelos Evangelou, Evangelos Evangelou, Steven A. Narod, Steven A. Narod, Anne-Marie Mes-Masson, William D. Foulkes, William D. Foulkes, William D. Foulkes, Barbara Rivera, Barbara Rivera, Patricia N. Tonin, Patricia N. Tonin, Patricia N. Tonin, Jiannis Ragoussis, Jiannis Ragoussis, Antigone S. Dimas
Published 2019-10-01

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
Published 2023-07-01