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Joseph Borg
Joseph Borg
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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
4522014
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
4482010
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
1842011
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
1152016
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
1052014
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
1052011
Erythroid phenotypes associated with KLF1 mutations
J Borg, GP Patrinos, AE Felice, S Philipsen
haematologica 96 (5), 635, 2011
1052011
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
692015
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
472014
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
452012
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
402020
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
332013
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
322017
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
292009
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
282014
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
262011
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
252010
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
222015
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
212020
Children’s internet use and parents’ perceptions of their children’s online experience
MA Lauri, J Borg, L Farrugia
University of Malta and Malta Communications Authority (MCA), 2015
142015
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Artikler 1–20