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Cytotherapy|January 16, 2017
Suitability of small diagnostic peripheral-blood samples for cell-therapy studiesCoralea Stephanou, Panayiota Papasavva, Myria Zachariou, et al.Human Gene Therapy Methods|January 13, 2018
Rapid and Sensitive Assessment of Globin Chains for Gene and Cell Therapy of HemoglobinopathiesConstantinos C Loucari, Petros Patsali, Thamar B van Dijk, et al.Cells|December 22, 2023
Evaluation of Mono- and Bi-Functional GLOBE-Based Vectors for Therapy of β-Thalassemia by <i>HBB</i> Gene Addition and Mutation-Specific RNA InterferenceLola Koniali, Christina Flouri, Markela I Kostopoulou, et al.Human Mutation|September 12, 2021
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert PanelPetros Kountouris, Coralea Stephanou, Carsten W Lederer, et al.Plos One|December 19, 2013
Association of TERC and OBFC1 haplotypes with mean leukocyte telomere length and risk for coronary heart diseaseCécilia G Maubaret, Klelia D Salpea, Casey E Romanoski, et al.Elife|December 1, 2022
Evaluation of in silico predictors on short nucleotide variants in <i>HBA1</i>, <i>HBA2</i>, and <i>HBB</i> associated with haemoglobinopathiesStella Tamana, Maria Xenophontos, Anna Minaidou, et al.International Journal of Laboratory Hematology|January 6, 2026
ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H DiseaseNorafiza Mohd Yasin, Suguna Somasundram, Syahzuwan Hassan, et al.Haematologica|May 23, 2020
2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalanceAlisa Dong, Valentina Ghiaccio, Irene Motta, et al.Journal of Personalized Medicine|April 23, 2022
Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 CountriesBin Hashim Halim-Fikri, Carsten W Lederer, Atif Amin Baig, et al.European Journal of Human Genetics : EJHG|May 22, 2024
Comparison of the ABC and ACMG systems for variant classificationGunnar Houge, Eirik Bratland, Ingvild Aukrust, et al.Pageof 2