VELLA, J., BORG, J., GRECH, L., GALDIES, R., SCERRI, J., CASSAR, W., SCERRI, C.A., GRECH, G., SOLER, D., SAID, E., BORG, I., VELLA, N.R., CAMILLERI PODESTA, M.T., ELLUL, B., FELICE, T., GRIMA, D., ZAMMIT, E., SAID CONTI, V., PACE, N.P. and FELICE, A.E., 2015. Rare Disease Research and the Malta BioBank, RD-Connect Annual Meeting 2015.
FORMOSA, M., BORG, J., BEZZINA WETTINGER, S., FARRUGIA, R. and XUEREB, A., 2014. A mutation in the LRP4 gene is associated with bone mineral density in Maltese postmenopausal women. 2014, pp. P04.05-S page 97.
GIARDINE, B., BORG, J., VIENNAS, E., PAVLIDIS, C., MORADKHANI, K., JOLY, P., BARTSAKOULIA, M., RIEMER, C., MILLER, W., TZIMAS, G., WAJCMAN, H., HARDISON, R.C. and PATRINOS, G.P., 2014. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Research, 42(database issue), pp. D1063-9.
GRAVIA, A., CHONDROU, V., SGOUROU, A., PAPANTONI, I., BORG, J., KATSILA, T., PAPACHATZOPOULOU, A. and PATRINOS, G.P., 2014. Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients.
. Pharmacogenomics, 15(10), pp. 1355-1364.
KAMPOURAKIS, K., VAYENA, E., MITROPOULOU, C., VAN SCHAIK, R.H., COOPER, D.N., BORG, J. and PATRINOS, G.P., 2014. Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs.. EMBO reports, 15(5), pp. 472.
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), pp. 1223-1234.
PACIARONI, K., LUCARELLI, G., MARTELLI, F., MIGLIACCIO, A.R., VON LINDERN, M., BORG, J., GILLEMANS, N., VAN DIJK, T., and PHILIPSEN, S., 2014. Transfusion-independent β(0)-thalassemia after bone marrow transplantation failure: proposed involvement of high parental HbF and an epigenetic mechanism.. American Journal of Blood Research, 4(1), pp. 27-32.
TAFRALI, C., PAIZI, A., BORG, J., RADMILOVIC, M., BARTSAKOULIA, M., GIANNOPOULOU, E., GIANNAKOPOULOU, O., STOJILJKOVIC-PETROVIC, M., ZUKIC, B., POULAS, K., STAVROU, E.F., LAMBROPOULOU, P., KOURAKLI, A., FELICE, A.E., PAPACHATZOPOULOU, A., PHILIPSEN, S., PAVLOVIC, S., GEORGITSI, M. and PATRINOS, G.P., 2013. Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyureatreatment efficacy.. Pharmacogenomics, 14(5), pp. 469.
BORG, J., PHYLACTIDES, M., BARTSAKOULIA, M., TAFRALI, C., LEDERER, C., FELICE, A.E., PAPACHATZOPOULOU, A., KOURAKLI, A., STAVROU, E.F., CHRISTOU, S., HOU, J., KARKABOUNA, S., LAPPA-MANAKOU, C., OZGUR, Z., VAN IJCKEN, W., VON LINDERN, M., GROSVELD, F.G., GEORGITSI, M., KLEANTHOUS, M., PHILIPSEN, S. and PATRINOS, G.P., 2012. KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyureatreatment in β-hemoglobinopathy patients.. Pharmacogenomics, 13(13), pp. 1487.
SQUASSINA, A., SEVERINO, G., GRECH, G., FENECH, A., BORG, J. and PATRINOS, G.P., 2012. Golden Helix Pharmacogenomics Days: educational activities on pharmacogenomics and personalized medicine. Pharmacogenomics, 13(5), pp. 525.
BORG, J., PATRINOS, G.P., FELICE, A.E. and PHILIPSEN, S., 2011. Erythroid phenotypes associated with KLF1 mutations.. Haematologica, 96(5), pp. 635.
GIARDINE, B., BORG, J., HIGGS, D.R., PETERSON, K.R., PHILIPSEN, S., MAGLOTT, D., SINGLETON, B.K., ANSTEE, D.J., BASAK, A.N., CLARK, B., COSTA, F.C., FAUSTINO, P., FEDOSYUK, H., FELICE, A.E., FRANCINA, A., GALANELLO, R., GALLIVAN, M.V., GEORGITSI, M., GIBBONS, R.J., GIORDANO, P.C., HARTEVELD, C.L., HOYER, J.D., JARVIS, M., JOLY, P., KANAVAKIS, E., KOLLIA, P., MENZEL, S., MILLER, W., MORADKHANI, K., OLD, J., PAPACHATZOPOULOU, A., PAPADAKIS, M.N., PAPADOPOULOS, P., PAVLOVIC, S., PERSEU, L., RADMILOVIC, M., RIEMER, C., SATTA, S., SCHRIJVER, I., STOJILJKOVIC, M., THEIN, S.L., TRAEGER-SYNODINOS, J., TULLY, R., WADA, T., WAYE, J.S., WIEMANN, C., ZUKIC, B., CHUI, D.H., WAJCMAN, H., HARDISON, R.C. and PATRINOS, G.P., 2011. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nature Genetics, 43(4), pp. 295.
PATRINOS, G.P., AL AAMA, J., AL AQEEL, A., AL-MULLA, F., BORG, J., DEVEREUX, A., FELICE, A.E., MACRAE, F., MARAFIE, M.J., PETERSEN, M.B., QI, M., RAMESAR, R.S., ZLOTOGORA, J. and COTTON, R.G., 2011. Recommendations for genetic variation data capture in developing countries to ensure a comprehensiveworldwide data collection.. Human Mutation, 32(1), pp. 2.
SQUASSINA, A., MANCHIA, M., BORG, J., CONGIU, D., COSTA, M., GEORGITSI, M., CHILLOTTI, C., ARDAU, R., MITROPOULOS, K., SEVERINO, G., DEL ZOMPO, M. and PATRINOS, G.P., 2011. Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder.. Pharmacogenomics, 12(11), pp. 1559.
BORG, J., PAPADOPOULOS, P., GEORGITSI, M., GUTIÉRREZ, L., GRECH, G., FANIS, P., PHYLACTIDES, M., VERKERK, A.J., VAN DER SPEK, P.J., SCERRI, C.A., CASSAR, W., GALDIES, R., VAN IJCKEN, W., OZGÜR, Z., GILLEMANS, N., HOU, J., BUGEJA, M., GROSVELD, F.G., VON LINDERN, M., FELICE, A.E., PATRINOS, G.P. and PHILIPSEN, S., 2010. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.. Nature Genetics, 42(9), pp. 801.
BORG, J., GEORGITSI, M., ALEPOROU-MARINOU, V., KOLLIA, P. and PATRINOS, G.P., 2009. Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.. Clinical Biochemistry, 42(18), pp. 1839.
VIDAL, C., BORG, J., XUEREB-ANASTASI, A. and SCERRI, C.A., 2009. Variants within protectin (CD59) and CD44 genes linked to an inherited haplotype in a family with coeliac disease.. Tissue Antigens, 73(3), pp. 225.