An Update on Non-invasive Approaches for Genetic Testing of the Preimplantation Embryo

por Kakourou, Georgia, Mamas, Thalia, Vrettou, Christina, Traeger-Synodinos, Joanne
Publicado 2022

Two novel variants in the TCF12 gene identified in cases with craniosynostosis

por Goumenos, Athanasios, Tsoutsou, Eirini, Traeger-Synodinos, Joanne, Petychakis, Dimitrios, Gavra, Maria, Kolialexi, Aggeliki, Frysira, Helena
Publicado 2019

Heterozygosity of the Complex Corfu δ(0)β(+) Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited

por Kattamis, Christos, Skafida, Myrto, Delaporta, Polyxeni, Vrettou, Christina, Traeger-Synodinos, Joanne, Sofocleous, Christalena, Kattamis, Antonis
Publicado 2022

PB2532: VARIABLE HEMATOLOGICAL AND CLINICAL PHENOTYPES IN DOUBLE HETEROZYGOTES OF ΒETA-THALASSEMIA AND TRIPLICATED ΑLPHA-GLOBIN GENES

por Delaporta, Polyxeni, Vrettou, Christina, Chouliara, Vasiliki, Chatzieleftheriou, Maria-Ioanna, Kyriakopoulou, Dimitra, Moraki, Maria, Traeger-Synodinos, Joanne, Kattamis, Antonis
Publicado 2023

Unravelling the Genetic Basis of ACTH-Mediated Aldosterone Hypersecretion in Hypertensive Patients Without Primary Aldosteronism

por Mourtzi, Niki, Sertedaki, Amalia, Markou, Athina, Piaditis, George P, Katsanis, Nicholas, Traeger-Synodinos, Joanne, Tsigos, Constantine, Charmandari, Evangelia
Publicado 2021

Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity

por Papadatou, Ioanna, Marinakis, Nikolaos, Botsa, Evanthia, Tzanoudaki, Marianna, Kanariou, Maria, Orfanou, Irene, Kanaka-Gantenbein, Christina, Traeger-Synodinos, Joanne, Spoulou, Vana
Publicado 2021

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

por Tilemis, Faidon-Nikolaos, Marinakis, Nikolaos M., Veltra, Danai, Svingou, Maria, Kekou, Kyriaki, Mitrakos, Anastasios, Tzetis, Maria, Kosma, Konstantina, Makrythanasis, Periklis, Traeger-Synodinos, Joanne, Sofocleous, Christalena
Publicado 2023

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

por Traeger-Synodinos, Joanne, Harteveld, Cornelis L, Old, John M, Petrou, Mary, Galanello, Renzo, Giordano, Piero, Angastioniotis, Michael, De la Salle, Barbara, Henderson, Shirley, May, Alison
Publicado 2015

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

por 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
Publicado 2021

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies

por 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
Publicado 2022

A Greek National Cross-Sectional Study on Myotonic Dystrophies

por 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
Publicado 2022

Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

por Kekou, Kyriaki, Svingou, Maria, Sofocleous, Christalena, Mourtzi, Niki, Nitsa, Evangelia, Konstantinidis, George, Youroukos, Sotiris, Skiadas, Konstantinos, Katsalouli, Marina, Pons, Roser, Papavasiliou, Antigoni, Kotsalis, Charalabos, Pavlou, Evangelos, Evangeliou, Athanasios, Katsarou, Efstathia, Voudris, Konstantinos, Dinopoulos, Argirios, Vorgia, Pelagia, Niotakis, George, Diamantopoulos, Nikolaos, Nakou, Iliada, Koute, Vasiliki, Vartzelis, George, Papadimas, George-Konstantinos, Papadopoulos, Constantinos, Tsivgoulis, Georgios, Traeger-Synodinos, Joanne
Publicado 2020

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

por Vermeulen, Carlo, Geeven, Geert, de Wit, Elzo, Verstegen, Marjon J.A.M., Jansen, Rumo P.M., van Kranenburg, Melissa, de Bruijn, Ewart, Pulit, Sara L., Kruisselbrink, Evelien, Shahsavari, Zahra, Omrani, Davood, Zeinali, Fatemeh, Najmabadi, Hossein, Katsila, Theodora, Vrettou, Christina, Patrinos, George P., Traeger-Synodinos, Joanne, Splinter, Erik, Beekman, Jeffrey M., Kheradmand Kia, Sima, te Meerman, Gerard J., Ploos van Amstel, Hans Kristian, de Laat, Wouter
Publicado 2017