Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert PanelPetros Kountouris, Kyriaki Michailidou, Landry Nfonsam et al.|Human Mutation|2021Cited by 38
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathiesStella Tamana, Petros Kountouris, Maria Xenophontos et al.|eLife|2022Cited by 14
ITHANET: Information and database community portal for haemoglobinopathiesPetros Kountouris, Marina Kleanthous, Coralea Stephanou et al.|bioRxiv (Cold Spring Harbor Laboratory)|2017Cited by 13
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeVincenzo Salpietro, M. Aguennouz, Reza Maroofian et al.|The American Journal of Human Genetics|2023Cited by 8
HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyondSotiroula Chatzimatthaiou, Petros Kountouris, Fedele Bonifazi et al.|HemaSphere|2025Cited by 6