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P. Kountouris · SciRah

Researcher profile · Semantic Scholar

P. Kountouris

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P. Kountouris — researcher profile on SciRah

h-index: 14
Works: 65
Citations: 761

Most-cited papers

IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology
P. Kountouris, C. Lederer, P. Fanis, X. Feleki +2 more
2014PLoS ONE259 citations Open access
Semantic Scholar
Prediction of backbone dihedral angles and protein secondary structure using support vector machines
P. Kountouris, J. Hirst
2009BMC Bioinformatics59 citations Open access
Semantic Scholar
Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia
T. Papasavva, W. V. van Ijcken, C. Kockx, M. van den Hout +5 more
2013European Journal of Human Genetics52 citations Open access
Semantic Scholar
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study
P. Kountouris, Ioanna Kousiappa, T. Papasavva, G. Christopoulos +22 more
2016Scientific Reports50 citations Open access
Semantic Scholar
Predicting β-turns and their types using predicted backbone dihedral angles and secondary structures
P. Kountouris, J. Hirst
2010BMC Bioinformatics46 citations Open access
Semantic Scholar
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel
P. Kountouris, C. Stephanou, C. Lederer, J. Traeger-Synodinos +10 more
2021Human Mutation38 citations Open access
Semantic Scholar
The International Hemoglobinopathy Research Network (INHERENT): an international initiative to study the role of genetic modifiers in hemoglobinopathies
P. Kountouris, C. Stephanou, N. Archer, F. Bonifazi +14 more
2021American journal of hematology/oncology36 citations Open access
Semantic Scholar
Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective.
María del Mar Mañú Pereira, R. Colombatti, F. Álvarez, P. Bartolucci +22 more
2023The Lancet Haematology26 citations Open access
Semantic Scholar
Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries
Bin Hashim Halim-Fikri, C. Lederer, A. Baig, S. M. Mat-Ghani +31 more
2022Journal of Personalized Medicine20 citations Open access
Semantic Scholar
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, T. Legler, Marios Liasides +17 more
2016BMC Research Notes20 citations Open access
Semantic Scholar
The Changing Epidemiology of β-Thalassemia in the Greek-Cypriot Population
A. Kyrri, E. Kalogerou, D. Loizidou, C. Ioannou +7 more
2013Hemoglobin18 citations
Semantic Scholar
Genetic Modifiers at the Crossroads of Personalised Medicine for Haemoglobinopathies
C. Stephanou, S. Tamana, A. Minaidou, P. Papasavva +2 more
2019Journal of Clinical Medicine17 citations Open access
Semantic Scholar
ITHANET: Information and database community portal for haemoglobinopathies
P. Kountouris, C. Stephanou, C. Bento, P. Fanis +7 more
2017bioRxiv15 citations Open access
Semantic Scholar
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 +12 more
2022bioRxiv14 citations Open access
Semantic Scholar
A Comparative Study on Filtering Protein Secondary Structure Prediction
P. Kountouris, Michalis Agathocleous, V. Promponas, Georgia Christodoulou +3 more
2012IEEE/ACM Transactions on Computational Biology & Bioinformatics14 citations
Semantic Scholar
Effect of HBB genotype on survival in a cohort of transfusion-dependent thalassemia patients in Cyprus
P. Kountouris, K. Michailidou, S. Christou, M. Hadjigavriel +4 more
2020Haematologica12 citations Open access
Semantic Scholar
Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet
Anna Collado, M. Boaro, S. van der Veen, A. Idrizovic +19 more
2023HemaSphere11 citations Open access
Semantic Scholar
A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies
A. Minaidou, S. Tamana, C. Stephanou, M. Xenophontos +4 more
2022International Journal of Molecular Sciences8 citations Open access
Semantic Scholar
HELIOS Action: Advancing research, education, and equity in hemoglobinopathies across Europe and beyond
S. Chatzimatthaiou, F. Bonifazi, A. C. Gimbert, R. Colombatti +19 more
2025HemaSphere5 citations
Semantic Scholar
Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping review.
S. van der Veen, J. J. Jans, E. V. van Beers, B. Biemond +15 more
2025Blood reviews5 citations Open access
Semantic Scholar
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia
C. Stephanou, M. Petrou, P. Kountouris, C. Makariou +4 more
2024Biomedicines5 citations Open access
Semantic Scholar
IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies
M. Xenophontos, A. Minaidou, C. Stephanou, S. Tamana +2 more
2023HemaSphere5 citations Open access
Semantic Scholar
ITHANET: An Information and Database Community Portal for Hemoglobinopathies
C. Stephanou, P. Kountouris, S. Tamana, A. Minaidou +2 more
2019Hemoglobin5 citations
Semantic Scholar
Genetic Polymorphisms Associated with Fetal Hemoglobin (HbF) Levels and F-Cell Numbers: A Systematic Review of Genome-Wide Association Studies
C. Stephanou, Stephan Menzel, S. Philipsen, P. Kountouris
2024International Journal of Molecular Sciences4 citations Open access
Semantic Scholar
Global Globin Network and adopting genomic variant database requirements for thalassemia
Hashim Halim-Fikri, Ninie Nadia Zulkipli, Hafiza Alauddin, Celeste Bento +16 more
2024Database J. Biol. Databases Curation3 citations Open access
Semantic Scholar
Editorial: Insights in thalassemia: from genomics to clinical practice
C. L. Silao, Z. Latiff, P. Kountouris, B. Zilfalil
2023Frontiers in Pediatrics3 citations Open access
Semantic Scholar
Undetectable Hydroxyurea Levels in the Majority of Sickle Cell Disease Patients, Especially in Young Children
S. van der Veen, B. Biemond, M. Cnossen, P. Bartolucci +23 more
2026American journal of hematology/oncology2 citations Open access
Semantic Scholar
Pilot of the International Hemoglobinopathy Research Network (INHERENT) for a multi-ethnic genome-wide association study
P. Kountouris, C. Stephanou, M. Xenophontos, A. Minaidou +54 more
2026Blood Global Hematology2 citations Open access
Semantic Scholar
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing
Stefania Byrou, R. Brouwer, M. Tomazou, S. Tamana +11 more
2025International Journal of Molecular Sciences2 citations Open access
Semantic Scholar
Ethical and regulatory requirements for conducting researcher-driven large-scale multinational genetic haematological studies: the INHERENT experience
A. Didio, V. Giannuzzi, Natasha Archer, E. Gani +4 more
2025Health Research Policy and Systems2 citations Open access
Semantic Scholar
PF785 CHANGING CAUSES OF MORTALITY IN TDT DURING THE ERA OF ORAL CHELATION THERAPY FROM 2000 TO 2018
P. Telfer, P. Kountouris, S. Christou, M. Hadjigavriel +3 more
2019HemaSphere2 citations Open access
Semantic Scholar
Training Bidirectional Recurrent Neural Network Architectures with the Scaled Conjugate Gradient Algorithm
Michalis Agathocleous, C. Christodoulou, V. Promponas, P. Kountouris +1 more
2016International Conference on Artificial Neural Networks2 citations
Semantic Scholar
Special Issue “Genetic Modifiers of Hemoglobinopathies: Recent Advances and Future Directions”
C. Lederer, A. Felice, P. Kountouris
2026International Journal of Molecular Sciences1 citations Open access
Semantic Scholar
Mapping diagnostic practices in hemoglobinopathies: a cross-country HELIOS COST Action study
C. Stephanou, S. Chatzimatthaiou, P. Kountouris, J. Traeger-Synodinos
2026Blood Advances1 citations Open access
Semantic Scholar
Development, implementation, and validation of an open-source Federated Learning platform to accelerate innovation and boost personalized medicine in rare and ultra-rare hematological diseases: an initiative by GenoMed4All Consortium
G. Asti, P. Apellaniz, L. Carota, F. Casadei +38 more
2025medRxiv1 citations Open access
Semantic Scholar
Submitting Novel Globin Gene Variants to Hemoglobin
C. Harteveld, G. Patrinos, J. Traeger-Synodinos, P. Kountouris +2 more
2023Hemoglobin1 citations Open access
Semantic Scholar
5610939 RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP)
R. Colombatti, V. Gutierrez‐Valle, C. Diot-Lefebvre, I. Labidi +6 more
2023HemaSphere1 citations Open access
Semantic Scholar
P1481: THE INTERNATIONAL HEMOGLOBINOPATHY RESEARCH NETWORK (INHERENT): AN INTERNATIONAL INITIATIVE TO STUDY THE ROLE OF GENETIC MODIFIERS IN HEMOGLOBINOPATHIES
P. Kountouris, C. Stephanou, N. Archer, F. Bonifazi +14 more
2022HemaSphere1 citations Open access
Semantic Scholar
The ITHANET-Human Variome Project: Moving Functional Annotation Forward
P. Kountouris, C. Stephanou, C. Lederer, S. Tamana +9 more
2019Hemoglobin1 citations
Semantic Scholar
Variant Curation: Overview and Challenges
C. Stephanou, P. Kountouris, C. Lederer, M. Kleanthous
2019Hemoglobin1 citations
Semantic Scholar
Artificial intelligence knowledge, use, and perceived barriers among health care professionals in rare hematological disease networks
E. Mezzalira, M. D'Agnolo, M. Boaro, G. Reggiani +8 more
2026Orphanet Journal of Rare Diseases0 citations Open access
Semantic Scholar
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 Disease
N. Yasin, Suguna Somasundram, S. Hassan, Nur Aisyah Aziz +11 more
2026International Journal of Laboratory Hematology0 citations Open access
Semantic Scholar
FAIR data gaps and collaboration willingness among hemoglobinopathy research centers
S. Tamana, Kristia Yiangou, K. Orphanou, S. Chatzimatthaiou +2 more
2026Scientific Data0 citations Open access
Semantic Scholar
Large-scale modelling of Î²-thalassaemia carrier prevalence: geostatistical predictions and population estimates from a global evidence base
Μαγδαληνή Κοντοπούλου, C. Utazi, S. Chaudhuri, M. Xenophontos +6 more
2026medRxiv0 citations Open access
Semantic Scholar
A FAIR layer for the INHERENT haemoglobinopathy patient registry
S. Tamana, C. Yiangou, K. Orphanou, M. Xenophontos +14 more
2026medRxiv0 citations Open access
Semantic Scholar
Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action
Norafiza Mohd Yasin, S. Chatzimatthaiou, A. Perolla, Adoracion Blanco Alvarez +6 more
2026International Journal of Molecular Sciences0 citations Open access
Semantic Scholar
Modifying quality and equity of care: emerging roles of genetic disease modifiers in β-hemoglobinopathies
P. Papasavva, Atinuke M Dosunmu-Ogunbi, Morohuntodun O. Oni, P. Kountouris +5 more
2026Blood Advances0 citations Open access
Semantic Scholar
Evidence-based interventions in hemoglobinopathy care: a multi-center assessment of healthcare systems
J. Loh, S. Chatzimatthaiou, C. Stephanou, G. Cheminet +8 more
2026Blood Global Hematology0 citations Open access
Semantic Scholar
Thalassemia in europe: A cross-border real-world data analysis from the radeep registry
Anna Collado Gimbert, S. Reidel, R. Colombatti, E. V. van Beers +32 more
2025Blood0 citations
Semantic Scholar
Data validation and quality framework for building a european multimodal real-world dataset for clinical outcome research in sickle cell disease
S. Reidel, P. Bartolucci, B. Biemond, B. C. Cajiao Garcia +16 more
2025Blood0 citations
Semantic Scholar

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