Updates of the HbVar database of human hemoglobin variants and thalassemia mutations B Giardine, J Borg, E Viennas, C Pavlidis, K Moradkhani, P Joly, ... Nucleic acids research 42 (D1), D1063-D1069, 2014 | 464 | 2014 |
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin J Borg, P Papadopoulos, M Georgitsi, L Gutiérrez, G Grech, P Fanis, ... Nature genetics 42 (9), 801-805, 2010 | 462 | 2010 |
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach B Giardine, J Borg, DR Higgs, KR Peterson, S Philipsen, D Maglott, ... Nature genetics 43 (4), 295-301, 2011 | 187 | 2011 |
A European spectrum of pharmacogenomic biomarkers: implications for clinical pharmacogenomics C Mizzi, E Dalabira, J Kumuthini, N Dzimiri, I Balogh, N Başak, R Böhm, ... PloS one 11 (9), e0162866, 2016 | 117 | 2016 |
Evidence for Association of an ACCN1 Gene Variant with Response to Lithium Treatment in Sardinian Patients with Bipolar Disorder A Squassina, M Manchia, J Borg, D Congiu, M Costa, M Georgitsi, ... Pharmacogenomics 12 (11), 1559-1569, 2011 | 108 | 2011 |
Personalized pharmacogenomics profiling using whole-genome sequencing C Mizzi, B Peters, C Mitropoulou, K Mitropoulos, T Katsila, MR Agarwal, ... Pharmacogenomics 15 (9), 1223-1234, 2014 | 107 | 2014 |
Erythroid phenotypes associated with KLF1 mutations J Borg, GP Patrinos, AE Felice, S Philipsen haematologica 96 (5), 635, 2011 | 107 | 2011 |
A genetic score for the prediction of beta-thalassemia severity F Danjou, M Francavilla, F Anni, S Satta, FR Demartis, L Perseu, M Manca, ... Haematologica 100 (4), 452, 2015 | 72 | 2015 |
Colour and chemical stability of bismuth oxide in dental materials with solutions used in routine clinical practice J Camilleri, J Borg, D Damidot, E Salvadori, P Pilecki, P Zaslansky, ... PLoS One 15 (11), e0240634, 2020 | 47 | 2020 |
Key challenges for next‐generation pharmacogenomics: Science & Society series on Science and Drugs K Kampourakis, E Vayena, C Mitropoulou, RH van Schaik, DN Cooper, ... EMBO reports 15 (5), 472-476, 2014 | 47 | 2014 |
KLF10 Gene Expression is Associated with High Fetal Hemoglobin Levels and with Response to Hydroxyurea Treatment in β-Hemoglobinopathy Patients J Borg, M Phylactides, M Bartsakoulia, C Tafrali, C Lederer, AE Felice, ... Pharmacogenomics 13 (13), 1487-1500, 2012 | 46 | 2012 |
Genomic Variation in the MAP3K5 Gene is Associated with β-Thalassemia Disease Severity and Hydroxyurea Treatment Efficacy C Tafrali, A Paizi, J Borg, M Radmilovic, M Bartsakoulia, E Giannopoulou, ... Pharmacogenomics 14 (5), 469-483, 2013 | 34 | 2013 |
Aryl hydrocarbon receptor (AHR) is a potential tumour suppressor in pituitary adenomas R Formosa, J Borg, J Vassallo Endocrine-related cancer 24 (8), 445-457, 2017 | 32 | 2017 |
Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients A Gravia, V Chondrou, A Sgourou, I Papantoni, J Borg, T Katsila, ... Pharmacogenomics 15 (10), 1355-1364, 2014 | 29 | 2014 |
Genetic recombination as a major cause of mutagenesis in the human globin gene clusters J Borg, M Georgitsi, V Aleporou-Marinou, P Kollia, GP Patrinos Clinical biochemistry 42 (18), 1839-1850, 2009 | 29 | 2009 |
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection GP Patrinos, J Al Aama, A Al Aqeel, F Al‐Mulla, J Borg, A Devereux, ... Human mutation 32 (1), 2-9, 2011 | 26 | 2011 |
Attitudes of a sample of English, Maltese and German teachers towards media education MA Lauri, J Borg, T Günnel, R Gillum European Journal of Teacher Education 33 (1), 79-98, 2010 | 26 | 2010 |
Overview of current microRNA biomarker signatures as potential diagnostic tools for leukaemic conditions A Buhagiar, J Borg, D Ayers Non-coding RNA Research 5 (1), 22-26, 2020 | 23 | 2020 |
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach I Karageorgos, C Mizzi, E Giannopoulou, C Pavlidis, BA Peters, Z Zagoriti, ... Human genomics 9, 1-10, 2015 | 22 | 2015 |
Malta’s media landscape: An overview J Borg Exploring the Maltese media landscape, 19-33, 2009 | 20 | 2009 |