Journal Publications

Borg, J., Papadopoulos, P., Georgitsi, M., Gutiérrez, L., Grech, G., Fanis, P., et al. (2010). Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobinNature Genetics, 42(9), 801-5

Giardine, B., and Borg, J., Higgs, D. R., Peterson, K. R., Philipsen, S., Maglott, D., et al. (2011). Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nature Genetics, 43(4), 295-301

Borg, J., Patrinos, G. P., Felice, A. E., & Philipsen, S. (2011). Erythroid phenotypes associated with klf1 mutationsHaematologica, 96(5), 635.

Borg, J., Georgitsi, M., Aleporou-Marinou, V., Kollia, P., Patrinos, G.P (2009) Genetic recombination as a major cause of mutagenesis in the human globin gene clusters. Clin Biochem. 42(18):1839-1850.

Giardine, B., and Borg, J., Viennas, E., Pavlidis, C., Moradkhani, K., Joly, P., Bartsakoulia, M., Riemer, C., Miller, W., Tzimas, G., Wajcman, H., Hardison, R.C, Patrinos, G.P (2014) Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 42(Database issue): D1063-9.

Kampourakis, K., Vayena, E., Mitropoulou, C., Van Schaik, R.H., Cooper, D.N., *Borg, J., and *Patrinos, G.P. (2014) Next-generation pharmacogenomics and society: key challenges ahead. EMBO reports 15(5): 472-476 

Borg, J., and Grech, L. (2014) Control of globin gene expression by Kruppel-like Factors. Xjenza Online 2(2): 66-77

Mizzi, C., Peters, B., Mitropoulou, C., Mitropoulos, K., Katsila, T., Agarwal, M.R., van Schaik, R.H., Drmanac, R., *Borg, J., and *Patrinos, G.P (2014) Personalized pharmacogenomics profiling using whole-genome sequencing. Pharmacogenomics 15(9):1223-34 

Gravia, A., Chondrou, V., Sgourou, A., Papantoni, I., Borg, J., Katsila, T., Papachatzopoulou, A., Patrinos, G.P (2014) Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients Pharmacogenomics 15(10):1355-64

Chondrou, V., Gravia, A., Borg, J., and Patrinos, G.P. (2014) Application of differential molecular profiling of human hematopoietic tissues during human ontogenesis for hemoglobinopathies therapeutics International Journal of Laboratory Hematology 36:12-12

Paciaroni, K., Lucarelli, G., Martelli, F., Migliaccio, A.R., von Lindern, M., Borg, J., Gillemans, N., van Dijk, T.B., Philipsen, S (2014) Transfusion-independent β(0)-thalassemia after bone marrow transplantation failure: proposed involvement of high parental HbF and an epigenetic mechanism. Am J Blood Res. 4(1):27-32.

Xuereb, K., Debono, J., and Borg, J (2015) Validation of a polymerase chain reaction technique for kidd blood group genotyping. Malta Journal of Health Sciences 2(2): 66-69.

Karageorgos, I., Mizzi, C., Giannopoulou, E., Pavlidis, C., Peters, B.A., Zagoriti, Z., Stenson, P.D., Mitropoulos, K., Borg, J., Kalofonos, H.P., Drmanac, R., Stubbs, A., van der Spek, P., Cooper, D.N., Katsila, T., and Patrinos, G.P. (2015) Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach. Hum Genomics 20: 9-12 

Danjou, F., Francavilla, M., Anni, F., Satta, S., Demartis, F.R., Perseu, L., Manca, M., Sollaino, M.C., Manunza, L., Mereu, E., Marceddu, G., Pissard, S., Joly, P., Thuret, I., Origa, R., Borg, J., Forni, G.L., Piga, A., Lai, M.E., Badens, C., Moi, P., Galanello, R (2015) A genetic score for the prediction of beta- thalassemia severity. Haematologica 100(4):452-7

Mizzi, C., Dalabira, E., Kumuthini, J., Dzimiri, N., Balogh, I., Başak, N., Böhm, R., Borg, J., Borgiani, P., Bozina, N., Bruckmueller, H., Burzynska, B., Carracedo, A., Cascorbi, I., Deltas, C., Dolzan, V., Fenech, A., Grech, G., Kasiulevicius, V., Kádaši, Ľ., Kučinskas, V., Khusnutdinova, E., Loukas, Y.L., Macek, M Jr., Makukh, H., Mathijssen, R., Mitropoulos, K., Mitropoulou, C., Novelli, G., Papantoni, I., Pavlovic, S., Saglio, G., Setric, J., Stojiljkovic, M., Stubbs, AP., Squassina, A., Torres, M., Turnovec, M., van Schaik, R.H, Voskarides, K., Wakil, SM, Werk, A., Del Zompo, M., Zukic, B., Katsila, T., Lee, M.T, Motsinger-Rief, A., Mc Leod, HL, van der Spek, P.J., Patrinos, G.P. (2016) A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PLoS One 11(9): e0162866 

- Claude Bernard -

“The joy of discovery is certainly the liveliest that the mind of man can ever feel”

PUBLICATIONS