IthaGenes: an interactive database for haemoglobin variations and epidemiology P Kountouris, CW Lederer, P Fanis, X Feleki, J Old, M Kleanthous PloS one 9 (7), e103020, 2014 | 272 | 2014 |
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia T Papasavva, WFJ Van Ijcken, CEM Kockx, MCGN Van Den Hout, ... European Journal of Human Genetics 21 (12), 1403-1410, 2013 | 74 | 2013 |
Prediction of backbone dihedral angles and protein secondary structure using support vector machines P Kountouris, JD Hirst BMC bioinformatics 10, 1-14, 2009 | 67 | 2009 |
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study P Kountouris, I Kousiappa, T Papasavva, G Christopoulos, E Pavlou, ... Scientific reports 6 (1), 26371, 2016 | 59 | 2016 |
Predicting β-turns and their types using predicted backbone dihedral angles and secondary structures P Kountouris, JD Hirst BMC bioinformatics 11, 1-11, 2010 | 53 | 2010 |
The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies P Kountouris, C Stephanou, NM Archer, F Bonifazi, V Giannuzzi, ... Blood 138 (Supplement 1), 948-948, 2021 | 34 | 2021 |
The changing epidemiology of β-thalassemia in the Greek-Cypriot population AR Kyrri, E Kalogerou, D Loizidou, C Ioannou, C Makariou, L Kythreotis, ... Hemoglobin 37 (5), 435-443, 2013 | 29 | 2013 |
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel P Kountouris, C Stephanou, CW Lederer, J Traeger‐Synodinos, C Bento, ... Human Mutation 43 (8), 1089-1096, 2022 | 28 | 2022 |
Prevalence of RhD status and clinical application of non-invasive prenatal determination of fetal RHD in maternal plasma: a 5 year experience in Cyprus T Papasavva, P Martin, TJ Legler, M Liasides, G Anastasiou, ... BMC research notes 9, 1-8, 2016 | 20 | 2016 |
Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective MMM Pereira, R Colombatti, F Alvarez, P Bartolucci, C Bento, AL Brunetta, ... The Lancet Haematology 10 (8), e687-e694, 2023 | 19 | 2023 |
A Comparative Study on Filtering Protein Secondary Structure Prediction P Kountouris, M Agathocleous, V Promponas, G Christodoulou, ... Computational Biology and Bioinformatics, IEEE/ACM Transactions on, 1-1, 2012 | 19 | 2012 |
Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus P Kountouris, K Michailidou, S Christou, M Hadjigavriel, M Sitarou, ... Haematologica 106 (9), 2458, 2020 | 18* | 2020 |
Global globin network consensus paper: classification and stratified roadmaps for improved thalassaemia care and prevention in 32 countries BH Halim-Fikri, CW Lederer, AA Baig, SNA Mat-Ghani, ... Journal of Personalized Medicine 12 (4), 552, 2022 | 16 | 2022 |
Genetic modifiers at the crossroads of personalised medicine for haemoglobinopathies C Stephanou, S Tamana, A Minaidou, P Papasavva, M Kleanthous, ... Journal of Clinical Medicine 8 (11), 1927, 2019 | 16 | 2019 |
ITHANET: Information and database community portal for haemoglobinopathies P Kountouris, C Stephanou, C Bento, P Fanis, J Elion, RS Ramesar, ... bioRxiv, 209361, 2017 | 15* | 2017 |
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies S Tamana, M Xenophontos, A Minaidou, C Stephanou, CL Harteveld, ... Elife 11, e79713, 2022 | 6 | 2022 |
A novel tool for the analysis and detection of copy number variants associated with haemoglobinopathies A Minaidou, S Tamana, C Stephanou, M Xenophontos, CL Harteveld, ... International Journal of Molecular Sciences 23 (24), 15920, 2022 | 5 | 2022 |
IthaPhen: an interactive database of genotype-phenotype data for hemoglobinopathies M Xenophontos, A Minaidou, C Stephanou, S Tamana, M Kleanthous, ... HemaSphere 7 (7), e922, 2023 | 4 | 2023 |
Challenges and opportunities of precision medicine in sickle cell disease: novel European approach by GenoMed4All consortium and ERN-EuroBloodNet A Collado, MP Boaro, S Van Der Veen, A Idrizovic, BJ Biemond, ... HemaSphere 7 (3), e844, 2023 | 3 | 2023 |
Training bidirectional recurrent neural network architectures with the scaled conjugate gradient algorithm M Agathocleous, C Christodoulou, V Promponas, P Kountouris, ... Artificial Neural Networks and Machine Learning–ICANN 2016: 25th …, 2016 | 3 | 2016 |