@article{Borg_2026_1,
  title = {Transcriptome Analysis of TGFBI Knockdown vs Normal Corneal Epithelial Cells: Implications for TGFBI Corneal Dystrophy Treatment},
  author = {Gabriella Guo Sciriha and Josef Borg and Janet Sultana and Joseph Borg},
  journal = {Biochemical Genetics},
  year = {2026},
  volume = {64},
  number = {3},
  pages = {3451-3480},
  doi = {10.1007/s10528-025-11191-3},
  url = {https://doi.org/10.1007/s10528-025-11191-3},
  note = {Journal article}
}

@incollection{Borg_2025_2,
  title = {Bayesian Birth-Death Skyline Model: A Case Study on Heterochronous Maltese SARS-CoV-2 Genomic Data},
  author = {Gianluca Ursino and Monique Borg Inguanez and David Suda and Joseph Borg and Graziella Zahra},
  journal = {Quantitative Methods and Data Analysis in Applied Demography – Volume 1},
  year = {2025},
  pages = {263-277},
  doi = {10.1007/978-3-031-82275-9_21},
  url = {https://doi.org/10.1007/978-3-031-82275-9_21},
  note = {Book chapter}
}

@article{Borg_2024_3,
  title = {Spatiotemporal expression and control of haemoglobin in space},
  author = {Josef Borg and Conor Loy and JangKeun Kim and Alfred Buhagiar and Christopher Chin and Namita Damle and Iwijn De Vlaminck and Alex Felice and Tammy Liu and Irina Matei and Cem Meydan and Masafumi Muratani and Omary Mzava and Eliah Overbey and Krista A Ryon and Scott M Smith and Braden T Tierney and Guy Trudel and Sara R Zwart and Afshin Beheshti and Christopher E Mason and Joseph Borg},
  journal = {Nature Communications},
  year = {2024},
  volume = {15},
  number = {1},
  pages = {4927},
  doi = {10.1038/s41467-024-49289-8},
  url = {https://doi.org/10.1038/s41467-024-49289-8},
  note = {Journal article}
}

@article{Borg_2024_4,
  title = {Spaceflight induces changes in gene expression profiles linked to insulin and estrogen},
  author = {Begum Aydogan Mathyk and Marshall Tabetah and Rashid Karim and Victoria Zaksas and JangKeun Kim and R I Anu and Masafumi Muratani and Alexia Tasoula and Ruth Subhash Singh and Yen-Kai Chen and Eliah Overbey and Jiwoon Park and Henry Cope and Hossein Fazelinia and Davide Povero and Joseph Borg and Remi V Klotz and Min Yu and Steven L Young and Christopher E Mason and Nathaniel Szewczyk and Riley M St Clair and Fathi Karouia and Afshin Beheshti},
  journal = {Communications Biology},
  year = {2024},
  volume = {7},
  number = {1},
  pages = {692},
  doi = {10.1038/s42003-023-05213-2},
  url = {https://doi.org/10.1038/s42003-023-05213-2},
  note = {Journal article}
}

@article{Borg_2024_5,
  title = {Longitudinal multi-omics analysis of host microbiome architecture and immune responses during short-term spaceflight},
  author = {Braden T Tierney and JangKeun Kim and Eliah G Overbey and Krista A Ryon and Jonathan Foox and Maria A Sierra and Chandrima Bhattacharya and Namita Damle and Deena Najjar and Jiwoon Park and J Sebastian Garcia Medina and Nadia Houerbi and Cem Meydan and Jeremy Wain Hirschberg and Jake Qiu and Ashley S Kleinman and Gabriel A Al-Ghalith and Matthew MacKay and Evan E Afshin and Raja Dhir and Joseph Borg and Christine Gatt and Nicholas Brereton and Benjamin P Readhead and Semir Beyaz and Kasthuri J Venkateswaran and Kelly Wiseman and Juan Moreno and Andrew M Boddicker and Junhua Zhao and Bryan R Lajoie and Ryan T Scott and Andrew Altomare and Semyon Kruglyak and Shawn Levy and George M Church and Christopher E Mason},
  journal = {Nature Microbiology},
  year = {2024},
  volume = {9},
  number = {7},
  pages = {1661-1675},
  doi = {10.1038/s41564-024-01635-8},
  url = {https://doi.org/10.1038/s41564-024-01635-8},
  note = {Journal article}
}

@article{Borg_2024_6,
  title = {Ethical considerations for the age of non-governmental space exploration},
  author = {Allen Seylani and Aman Singh Galsinh and Alexia Tasoula and Anu R I and Andrea Camera and Jean Calleja-Agius and Joseph Borg and Chirag Goel and JangKeun Kim and Kevin B Clark and Saswati Das and Shehbeel Arif and Michael Boerrigter and Caroline Coffey and Nathaniel Szewczyk and Christopher E Mason and Maria Manoli and Fathi Karouia and Hansjörg Schwertz and Afshin Beheshti and Dana Tulodziecki},
  journal = {Nature Communications},
  year = {2024},
  volume = {15},
  number = {1},
  pages = {4774},
  doi = {10.1038/s41467-023-44357-x},
  url = {https://doi.org/10.1038/s41467-023-44357-x},
  note = {Review}
}

@article{Borg_2024_7,
  title = {A second space age spanning omics, platforms and medicine across orbits},
  author = {Christopher E Mason and James Green and Konstantinos I Adamopoulos and Evan E Afshin and Jordan J Baechle and Mathias Basner and Susan M Bailey and Luca Bielski and Josef Borg and Joseph Borg and Jared T Broddrick and Marissa Burke and Andrés Caicedo and Verónica Castañeda and Subhamoy Chatterjee and Christopher R Chin and George Church and Sylvain V Costes and Iwijn De Vlaminck and Rajeev I Desai and Raja Dhir and Juan Esteban Diaz and Sofia M Etlin and Zachary Feinstein and David Furman and J Sebastian Garcia-Medina and Francine Garrett-Bakelman and Stefania Giacomello and Anjali Gupta and Amira Hassanin and Nadia Houerbi and Iris Irby and Emilia Javorsky and Peter Jirak and Christopher W Jones and Khaled Y Kamal and Brian D Kangas and Fathi Karouia and JangKeun Kim and Joo Hyun Kim and Ashley S Kleinman and Try Lam and John M Lawler and Jessica A Lee and Charles L Limoli and Alexander Lucaci and Matthew MacKay and J Tyson McDonald and Ari M Melnick and Cem Meydan and Jakub Mieczkowski and Masafumi Muratani and Deena Najjar and Mariam A Othman and Eliah G Overbey and Vera Paar and Jiwoon Park and Amber M Paul and Adrian Perdyan and Jacqueline Proszynski and Robert J Reynolds and April E Ronca and Kate Rubins and Krista A Ryon and Lauren M Sanders and Patricia Savi Glowe and Yash Shevde and Michael A Schmidt and Ryan T Scott and Bader Shirah and Karolina Sienkiewicz and Maria A Sierra and Keith Siew and Corey A Theriot and Braden T Tierney and Kasthuri Venkateswaran and Jeremy Wain Hirschberg and Stephen B Walsh and Claire Walter and Daniel A Winer and Min Yu and Luis Zea and Jaime Mateus and Afshin Beheshti},
  journal = {Nature},
  year = {2024},
  volume = {632},
  number = {8027},
  pages = {995-1008},
  doi = {10.1038/s41586-024-07586-8},
  url = {https://doi.org/10.1038/s41586-024-07586-8},
  note = {Review}
}

@article{Borg_2023_8,
  title = {The pharmacological treatment of granulomatosis with polyangiitis: a review of clinical trials registered in clinicaltrials.gov and the International Clinical Trials Registry Platform},
  author = {Janet Sultana and Nikita Camilleri and Salvatore Crisafulli and John Joseph Borg and Silvan Spagnol and Silvia Tillati and Joseph Borg},
  journal = {Therapeutic Advances in Rare Disease},
  year = {2023},
  volume = {4},
  pages = {26330040231213888},
  doi = {10.1177/26330040231213888},
  url = {https://doi.org/10.1177/26330040231213888},
  note = {Review}
}

@article{Borg_2023_9,
  title = {Evolutionary and spatiotemporal analyses reveal multiple introductions and cryptic transmission of SARS-CoV-2 VOC/VOI in Malta},
  author = {Nidia S Trovao and Vincent Pan and Chirag Goel and Pilar Gallego-García and Yunxi Liu and Christopher Barbara and Rebecca Borg and Mark Briffa and Chanelle Cilia and Laura Grech and Mario Vassallo and Todd J Treangen and David Posada and Afshin Beheshti and Joseph Borg and Graziella Zahra},
  journal = {Microbiology Spectrum},
  year = {2023},
  volume = {11},
  number = {6},
  pages = {e0153923},
  doi = {10.1128/spectrum.01539-23},
  url = {https://doi.org/10.1128/spectrum.01539-23},
  note = {Journal article}
}

@article{Borg_2023_10,
  title = {Enhancing European capabilities for application of multi-omics studies in biology and biomedicine space research},
  author = {Aránzazu Manzano and Silvio Weging and Daniela Bezdan and Joseph Borg and Thomas Cahill and Eugénie Carnero-Diaz and Henry Cope and Colleen S Deane and Timothy Etheridge and Stefania Giacomello and Gary Hardiman and Natalie Leys and Pedro Madrigal and Felice Mastroleo and F Javier Medina and Jakub Mieczkowski and Manuel A Fernandez-Rojo and Keith Siew and Nathaniel J Szewczyk and Stephen B Walsh and Willian A da Silveira and Raúl Herranz},
  journal = {iScience},
  year = {2023},
  volume = {26},
  number = {9},
  pages = {107289},
  doi = {10.1016/j.isci.2023.107289},
  url = {https://doi.org/10.1016/j.isci.2023.107289},
  note = {Review}
}

@article{Borg_2023_11,
  title = {Pharmacological treatment for transforming growth factor beta induced corneal dystrophies: what is the way forward?},
  author = {Gabriella Guo Sciriha and Janet Sultana and Joseph Borg},
  journal = {Expert Review of Clinical Pharmacology},
  year = {2023},
  volume = {16},
  number = {4},
  pages = {275-278},
  doi = {10.1080/17512433.2023.2193683},
  url = {https://doi.org/10.1080/17512433.2023.2193683},
  note = {Editorial}
}

@article{Borg_2022_12,
  title = {The Maleth program: Malta's first space mission discoveries on the microbiome of diabetic foot ulcers},
  author = {Christine Gatt and Braden T Tierney and Pedro Madrigal and Christopher E Mason and Afshin Beheshti and Anja Telzerow and Vladimir Benes and Graziella Zahra and Jurgen Bonett and Kevin Cassar and Joseph Borg},
  journal = {Heliyon},
  year = {2022},
  volume = {8},
  number = {12},
  pages = {e12075},
  doi = {10.1016/j.heliyon.2022.e12075},
  url = {https://doi.org/10.1016/j.heliyon.2022.e12075},
  note = {Journal article}
}

@article{Borg_2022_13,
  title = {Identifying and categorizing compounds that reduce corneal transforming growth factor beta induced protein levels: a scoping review},
  author = {Gabriella Guo Sciriha and Janet Sultana and Joseph Borg},
  journal = {Expert Review of Clinical Pharmacology},
  year = {2022},
  volume = {15},
  number = {12},
  pages = {1423-1442},
  doi = {10.1080/17512433.2022.2142560},
  url = {https://doi.org/10.1080/17512433.2022.2142560},
  note = {Scoping review}
}

@article{Borg_2022_14,
  title = {Challenges and considerations for single-cell and spatially resolved transcriptomics sample collection during spaceflight},
  author = {Eliah G Overbey and Saswati Das and Henry Cope and Pedro Madrigal and Zaneta Andrusivova and Solène Frapard and Rebecca Klotz and Daniela Bezdan and Anjali Gupta and Ryan T Scott and Jiwoon Park and Dawn Chirko and Jonathan M Galazka and Sylvain V Costes and Christopher E Mason and Raul Herranz and Nathaniel J Szewczyk and Joseph Borg and Stefania Giacomello},
  journal = {Cell Reports Methods},
  year = {2022},
  volume = {2},
  number = {11},
  pages = {100325},
  doi = {10.1016/j.crmeth.2022.100325},
  url = {https://doi.org/10.1016/j.crmeth.2022.100325},
  note = {Review}
}

@article{Borg_2022_15,
  title = {Routine omics collection is a golden opportunity for European human research in space and analog environments},
  author = {Henry Cope and Craig R G Willis and Matthew J MacKay and Lindsay A Rutter and Li Shean Toh and Philip M Williams and Raúl Herranz and Joseph Borg and Daniela Bezdan and Stefania Giacomello and Masafumi Muratani and Christopher E Mason and Timothy Etheridge and Nathaniel J Szewczyk},
  journal = {Patterns},
  year = {2022},
  volume = {3},
  number = {10},
  pages = {100550},
  doi = {10.1016/j.patter.2022.100550},
  url = {https://doi.org/10.1016/j.patter.2022.100550},
  note = {Review}
}

@article{Borg_2022_16,
  title = {Maltese Allelic Variants in Corneal Dystrophy Genes in a Worldwide Setting},
  author = {Gabriella Guo Sciriha and Janet Sultana and Samuel Petrucci and Joseph Borg},
  journal = {Molecular Diagnosis & Therapy},
  year = {2022},
  volume = {26},
  number = {5},
  pages = {529-540},
  doi = {10.1007/s40291-022-00602-5},
  url = {https://doi.org/10.1007/s40291-022-00602-5},
  note = {Journal article}
}

@article{Borg_2022_17,
  title = {Extraterrestrial Gynecology: Could Spaceflight Increase the Risk of Developing Cancer in Female Astronauts? An Updated Review},
  author = {Rosa Drago-Ferrante and Riccardo Di Fiore and Fathi Karouia and Yashwanth Subbannayya and Saswati Das and Begum Aydogan Mathyk and Shehbeel Arif and Ana Paula Guevara-Cerdán and Allen Seylani and Aman Singh Galsinh and Weronika Kukulska and Joseph Borg and Sherif Suleiman and David Marshall Porterfield and Andrea Camera and Lane K Christenson and April Elizabeth Ronca and Jonathan G Steller and Afshin Beheshti and Jean Calleja-Agius},
  journal = {International Journal of Molecular Sciences},
  year = {2022},
  volume = {23},
  number = {13},
  doi = {10.3390/ijms23137465},
  url = {https://doi.org/10.3390/ijms23137465},
  note = {Review}
}

@article{Borg_2022_18,
  title = {Space omics research in Europe: Contributions, geographical distribution and ESA member state funding schemes},
  author = {Colleen S Deane and Space Omics Topical Team and Willian A da Silveira and Raúl Herranz},
  journal = {iScience},
  year = {2022},
  volume = {25},
  number = {3},
  pages = {103920},
  doi = {10.1016/j.isci.2022.103920},
  url = {https://doi.org/10.1016/j.isci.2022.103920},
  note = {Review}
}

@article{Borg_2022_19,
  title = {Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts},
  author = {Steven Heshusius and Laura Grech and Nynke Gillemans and Rutger W W Brouwer and Xander T den Dekker and Wilfred F J van IJcken and Benjamin Nota and Alex E Felice and Thamar B van Dijk and Marieke von Lindern and Joseph Borg and Emile van den Akker and Sjaak Philipsen},
  journal = {Scientific Reports},
  year = {2022},
  volume = {12},
  number = {1},
  pages = {336},
  doi = {10.1038/s41598-021-04126-6},
  url = {https://doi.org/10.1038/s41598-021-04126-6},
  note = {Journal article}
}

@article{Borg_2022_20,
  title = {Novel therapies in β-thalassaemia},
  author = {Laura Grech and Karen Borg and Joseph Borg},
  journal = {British Journal of Clinical Pharmacology},
  year = {2022},
  volume = {88},
  number = {6},
  pages = {2509-2524},
  doi = {10.1111/bcp.14918},
  url = {https://doi.org/10.1111/bcp.14918},
  note = {Review}
}

@article{Borg_2021_21,
  title = {Possible Role of Circulating Bone Marrow Mesenchymal Progenitors in Modulating Inflammation and Promoting Wound Repair},
  author = {Laura Grech and Jean-Paul Ebejer and Oriana Mazzitelli and Kevin Schembri and Joseph Borg and Elisa Seria},
  journal = {International Journal of Molecular Sciences},
  year = {2021},
  volume = {23},
  number = {1},
  doi = {10.3390/ijms23010078},
  url = {https://doi.org/10.3390/ijms23010078},
  note = {Journal article}
}

@article{Borg_2021_22,
  title = {Overview of microRNAs as liquid biopsy biomarkers for colorectal cancer sub-type profiling and chemoresistance},
  author = {Alfred Buhagiar and Elisa Seria and Miriana Borg and Joseph Borg and Duncan Ayers},
  journal = {Cancer Drug Resistance},
  year = {2021},
  volume = {4},
  number = {4},
  pages = {934-945},
  doi = {10.20517/cdr.2021.62},
  url = {https://doi.org/10.20517/cdr.2021.62},
  note = {Review}
}

@article{Borg_2021_23,
  title = {Novel leukocyte-depleted platelet-rich plasma-based skin equivalent as an in vitro model of chronic wounds: a preliminary study},
  author = {Elisa Seria and George Galea and Joseph Borg and Kevin Schembri and Gabriella Grech and Sarah Samut Tagliaferro and Alexander Felice},
  journal = {BMC Molecular and Cell Biology},
  year = {2021},
  volume = {22},
  number = {1},
  pages = {28},
  doi = {10.1186/s12860-021-00366-6},
  url = {https://doi.org/10.1186/s12860-021-00366-6},
  note = {Journal article}
}

@article{Borg_2021_24,
  title = {Drug safety in thalassemia: lessons from the present and directions for the future},
  author = {Laura Grech and Janet Sultana and Karen Borg and Joseph Borg},
  journal = {Expert Opinion on Drug Safety},
  year = {2021},
  volume = {20},
  number = {8},
  pages = {937-947},
  doi = {10.1080/14740338.2021.1919081},
  url = {https://doi.org/10.1080/14740338.2021.1919081},
  note = {Review}
}

@article{Borg_2020_25,
  title = {Genetic Heterogeneity of KLF1, a Master Regulator of Erythropoiesis, Revealed an Autosomal Recessive Ψβ-Thalassemia and a Very Strong Promoter In Vivo},
  author = {Laura Grech and Joseph Borg and Ruth Galdies and Carmen Attard and Christian A. Scerri and Sjaak Philipsen and Alexander E. Felice},
  journal = {Blood},
  year = {2020},
  volume = {136},
  number = {Supplement 1},
  pages = {7-7},
  doi = {10.1182/blood-2020-143018},
  url = {https://doi.org/10.1182/blood-2020-143018},
  note = {Conference abstract}
}

@article{Borg_2020_26,
  title = {A Functional Single Nucleotide Polymorphism in the Aγ Globin Gene Promoter Affects Globin Chain Synthesis},
  author = {Elena Spiteri and Laura Grech and Alexander E. Felice and Joseph Borg},
  journal = {Blood},
  year = {2020},
  volume = {136},
  number = {Supplement 1},
  pages = {20-20},
  doi = {10.1182/blood-2020-143116},
  url = {https://doi.org/10.1182/blood-2020-143116},
  note = {Conference abstract}
}

@article{Borg_2020_27,
  title = {Overview of current microRNA biomarker signatures as potential diagnostic tools for leukaemic conditions},
  author = {Alfred Buhagiar and Joseph Borg and Duncan Ayers},
  journal = {Non-coding RNA Research},
  year = {2020},
  volume = {5},
  number = {1},
  pages = {22-26},
  doi = {10.1016/j.ncrna.2020.02.001},
  url = {https://doi.org/10.1016/j.ncrna.2020.02.001},
  note = {Review}
}

@article{Borg_2019_28,
  title = {Aspirin impairs acetyl-coenzyme A metabolism in redox-compromised yeast cells},
  author = {Gianluca Farrugia and Maria Azzopardi and Christian Saliba and Godfrey Grech and Angelina S Gross and Jelena Pistolic and Vladimir Benes and Neville Vassallo and Joseph Borg and Frank Madeo and Tobias Eisenberg and Rena Balzan},
  journal = {Scientific Reports},
  year = {2019},
  volume = {9},
  number = {1},
  pages = {6152},
  doi = {10.1038/s41598-019-39489-4},
  url = {https://doi.org/10.1038/s41598-019-39489-4},
  note = {Journal article}
}

@article{Borg_2019_29,
  title = {Diagnosis of beta thalassaemia trait},
  author = {Joseph Borg and Laura Grech},
  journal = {The Synapse},
  year = {2019},
  volume = {18},
  number = {5},
  pages = {11–13},
  url = {https://www.um.edu.mt/library/oar/handle/123456789/70964},
  note = {Clinical educational article}
}

@article{Borg_2019_30,
  title = {DNA spacewalk},
  author = {Joseph J. Borg},
  journal = {THINK Magazine},
  year = {2019},
  volume = {30},
  pages = {52–53},
  url = {https://www.um.edu.mt/library/oar/handle/123456789/66620},
  note = {Research outreach article}
}

@article{Borg_2018_31,
  title = {Novel beta globin gene cluster rearrangements and deletions in the Maltese islands},
  author = {Alexander Camilleri and Ruth Galdies and Wilhelmina Cassar and Laura Grech and Joseph J. Borg and Jeremy Cutajar and Christian A. Scerri and Alex E. Felice},
  journal = {10th Malta Medical School Conference: conference abstract book},
  year = {2018},
  url = {https://www.um.edu.mt/library/oar/handle/123456789/99427},
  note = {Conference abstract}
}

@article{Borg_2017_32,
  title = {Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics},
  author = {Clint Mizzi and Eleni Dalabira and Judit Kumuthini and Nduna Dzimiri and Istvan Balogh and Nazli Başak and Ruwen Böhm and Joseph Borg and Paola Borgiani and Nada Bozina and Henrike Bruckmueller and Beata Burzynska and Angel Carracedo and Ingolf Cascorbi and Constantinos Deltas and Vita Dolzan and Anthony Fenech and Godfrey Grech and Vytautas Kasiulevicius and Ľudevít Kádaši and Vaidutis Kučinskas and Elza Khusnutdinova and Yiannis L Loukas and Milan Macek and Halyna Makukh and Ron Mathijssen and Konstantinos Mitropoulos and Christina Mitropoulou and Giuseppe Novelli and Ioanna Papantoni and Sonja Pavlovic and Giuseppe Saglio and Jadranka Sertić and Maja Stojiljkovic and Andrew P Stubbs and Alessio Squassina and Maria Torres and Marek Turnovec and Ron H van Schaik and Konstantinos Voskarides and Salma M Wakil and Anneke Werk and Maria Del Zompo and Branka Zukic and Theodora Katsila and Ming Ta Michael Lee and Alison Motsinger-Rief and Howard L Mc Leod and Peter J van der Spek and George P Patrinos},
  journal = {PLOS ONE},
  year = {2017},
  volume = {12},
  number = {2},
  pages = {e0172595},
  doi = {10.1371/journal.pone.0172595},
  url = {https://doi.org/10.1371/journal.pone.0172595},
  note = {Correction}
}

@article{Borg_2016_33,
  title = {Novel genetic risk variants for pediatric celiac disease},
  author = {Angeliki Balasopoulou and Biljana Stanković and Angeliki Panagiotara and Gordana Nikčevic and Brock A Peters and Anne John and Effrosyni Mendrinou and Apostolos Stratopoulos and Aigli Ioanna Legaki and Vasiliki Stathakopoulou and Aristoniki Tsolia and Nikolaos Govaris and Sofia Govari and Zoi Zagoriti and Konstantinos Poulas and Maria Kanariou and Nikki Constantinidou and Maro Krini and Kleopatra Spanou and Nedeljko Radlovic and Bassam R Ali and Joseph Borg and Radoje Drmanac and George Chrousos and Sonja Pavlovic and Eleftheria Roma and Branka Zukic and George P Patrinos and Theodora Katsila},
  journal = {Human Genomics},
  year = {2016},
  volume = {10},
  number = {1},
  pages = {34},
  doi = {10.1186/s40246-016-0091-1},
  url = {https://doi.org/10.1186/s40246-016-0091-1},
  note = {Journal article}
}

@article{Borg_2016_34,
  title = {A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics},
  author = {Clint Mizzi and Eleni Dalabira and Judit Kumuthini and Nduna Dzimiri and Istvan Balogh and Nazli Başak and Ruwen Böhm and Joseph Borg and Paola Borgiani and Nada Bozina and Henrike Bruckmueller and Beata Burzynska and Angel Carracedo and Ingolf Cascorbi and Constantinos Deltas and Vita Dolzan and Anthony Fenech and Godfrey Grech and Vytautas Kasiulevicius and Ľudevít Kádaši and Vaidutis Kučinskas and Elza Khusnutdinova and Yiannis L Loukas and Milan Macek and Halyna Makukh and Ron Mathijssen and Konstantinos Mitropoulos and Christina Mitropoulou and Giuseppe Novelli and Ioanna Papantoni and Sonja Pavlovic and Giuseppe Saglio and Jadranka Setric and Maja Stojiljkovic and Andrew P Stubbs and Alessio Squassina and Maria Torres and Marek Turnovec and Ron H van Schaik and Konstantinos Voskarides and Salma M Wakil and Anneke Werk and Maria Del Zompo and Branka Zukic and Theodora Katsila and Ming Ta Michael Lee and Alison Motsinger-Rief and Howard L Mc Leod and Peter J van der Spek and George P Patrinos},
  journal = {PLOS ONE},
  year = {2016},
  volume = {11},
  number = {9},
  pages = {e0162866},
  doi = {10.1371/journal.pone.0162866},
  url = {https://doi.org/10.1371/journal.pone.0162866},
  note = {Journal article}
}

@article{Borg_2015_35,
  title = {Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach},
  author = {Ioannis Karageorgos and Clint Mizzi and Efstathia Giannopoulou and Cristiana Pavlidis and Brock A Peters and Zoi Zagoriti and Peter D Stenson and Konstantinos Mitropoulos and Joseph Borg and Haralabos P Kalofonos and Radoje Drmanac and Andrew Stubbs and Peter van der Spek and David N Cooper and Theodora Katsila and George P Patrinos},
  journal = {Human Genomics},
  year = {2015},
  volume = {9},
  number = {1},
  pages = {12},
  doi = {10.1186/s40246-015-0034-2},
  url = {https://doi.org/10.1186/s40246-015-0034-2},
  note = {Journal article}
}

@article{Borg_2015_36,
  title = {Validation of a Polymerase Chain Reaction technique for Kidd blood group genotyping},
  author = {Karl Xuereb and Jesmond Debono and Joseph Borg},
  journal = {Malta Journal of Health Sciences},
  year = {2015},
  volume = {2},
  number = {2},
  pages = {66–69},
  url = {https://www.um.edu.mt/library/oar/handle/123456789/9905},
  note = {Research article}
}

@article{Borg_2015_37,
  title = {A genetic score for the prediction of beta-thalassemia severity},
  author = {Fabrice Danjou and Marcella Francavilla and Franco Anni and Stefania Satta and Franca-Rosa Demartis and Lucia Perseu and Matteo Manca and Maria Carla Sollaino and Laura Manunza and Elisabetta Mereu and Giuseppe Marceddu and Serge Pissard and Philippe Joly and Isabelle Thuret and Raffaella Origa and Joseph Borg and Gian Luca Forni and Antonio Piga and Maria Eliana Lai and Catherine Badens and Paolo Moi and Renzo Galanello},
  journal = {Haematologica},
  year = {2015},
  volume = {100},
  number = {4},
  pages = {452-7},
  doi = {10.3324/haematol.2014.113886},
  url = {https://doi.org/10.3324/haematol.2014.113886},
  note = {Journal article}
}

@article{Borg_2014_38,
  title = {Transfusion-independent β(0)-thalassemia after bone marrow transplantation failure: proposed involvement of high parental HbF and an epigenetic mechanism},
  author = {Katia Paciaroni and Guido Lucarelli and Fabrizio Martelli and Anna Rita Migliaccio and Marieke von Lindern and Joseph Borg and Nynke Gillemans and Thamar B van Dijk and Sjaak Philipsen},
  journal = {American Journal of Blood Research},
  year = {2014},
  volume = {4},
  number = {1},
  pages = {27-32},
  url = {https://pubmed.ncbi.nlm.nih.gov/25232502/},
  note = {Journal article}
}

@article{Borg_2014_39,
  title = {Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs},
  author = {Kostas Kampourakis and Effy Vayena and Christina Mitropoulou and Ron H van Schaik and David N Cooper and Joseph Borg and George P Patrinos},
  journal = {EMBO Reports},
  year = {2014},
  volume = {15},
  number = {5},
  pages = {472-6},
  doi = {10.1002/embr.201438641},
  url = {https://doi.org/10.1002/embr.201438641},
  note = {Journal article}
}

@article{Borg_2014_40,
  title = {Personalized pharmacogenomics profiling using whole-genome sequencing},
  author = {Clint Mizzi and Brock Peters and Christina Mitropoulou and Konstantinos Mitropoulos and Theodora Katsila and Misha R Agarwal and Ron H N van Schaik and Radoje Drmanac and Joseph Borg and George P Patrinos},
  journal = {Pharmacogenomics},
  year = {2014},
  volume = {15},
  number = {9},
  pages = {1223-34},
  doi = {10.2217/pgs.14.102},
  url = {https://doi.org/10.2217/pgs.14.102},
  note = {Journal article}
}

@article{Borg_2014_41,
  title = {Individualizing fetal hemoglobin augmenting therapy for β-type hemoglobinopathies patients},
  author = {Aikaterini Gravia and Vasiliki Chondrou and Argyro Sgourou and Ioanna Papantoni and Joseph Borg and Theodora Katsila and Adamantia Papachatzopoulou and George P Patrinos},
  journal = {Pharmacogenomics},
  year = {2014},
  volume = {15},
  number = {10},
  pages = {1355-64},
  doi = {10.2217/pgs.14.101},
  url = {https://doi.org/10.2217/pgs.14.101},
  note = {Review}
}

@article{Borg_2014_42,
  title = {Control of globin gene expression by Kruppel-like Factors},
  author = {Laura Grech and Joseph Borg},
  journal = {Xjenza Online},
  year = {2014},
  volume = {2},
  number = {1},
  pages = {66–77},
  doi = {10.7423/XJENZA.2014.1.10},
  url = {https://www.um.edu.mt/library/oar/handle/123456789/2033},
  note = {Review}
}

@article{Borg_2014_43,
  title = {Updates of the HbVar database of human hemoglobin variants and thalassemia mutations},
  author = {Belinda Giardine and Joseph Borg and Emmanouil Viennas and Cristiana Pavlidis and Kamran Moradkhani and Philippe Joly and Marina Bartsakoulia and Cathy Riemer and Webb Miller and Giannis Tzimas and Henri Wajcman and Ross C Hardison and George P Patrinos},
  journal = {Nucleic Acids Research},
  year = {2014},
  volume = {42},
  number = {Database issue},
  pages = {D1063-9},
  doi = {10.1093/nar/gkt911},
  url = {https://doi.org/10.1093/nar/gkt911},
  note = {Journal article}
}

@article{Borg_2013_44,
  title = {Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy},
  author = {Christina Tafrali and Arsinoi Paizi and Joseph Borg and Milena Radmilovic and Marina Bartsakoulia and Emily Giannopoulou and Olga Giannakopoulou and Maja Stojiljkovic-Petrovic and Branka Zukic and Konstantinos Poulas and Eleana F Stavrou and Polyxeni Lambropoulou and Alexandra Kourakli and Alexander E Felice and Adamantia Papachatzopoulou and Sjaak Philipsen and Sonja Pavlovic and Marianthi Georgitsi and George P Patrinos},
  journal = {Pharmacogenomics},
  year = {2013},
  volume = {14},
  number = {5},
  pages = {469-83},
  doi = {10.2217/pgs.13.31},
  url = {https://doi.org/10.2217/pgs.13.31},
  note = {Journal article}
}

@article{Borg_2012_45,
  title = {Relevance of pharmacogenomics for developing countries in Europe: implementation in the Maltese population},
  author = {Christina Mitropoulou and Godfrey Grech and Anthony G. Fenech and Joseph Borg and Konstantinos Mitropoulos and Athanassios Vozikis and George P. Patrinos},
  journal = {Malta Medical Journal},
  year = {2012},
  volume = {24},
  number = {3},
  pages = {8–12},
  url = {https://www.um.edu.mt/library/oar/handle/123456789/1153},
  note = {Review}
}

@article{Borg_2012_46,
  title = {KLF10 gene expression is associated with high fetal hemoglobin levels and with response to hydroxyurea treatment in β-hemoglobinopathy patients},
  author = {Joseph Borg and Marios Phylactides and Marina Bartsakoulia and Christina Tafrali and Carsten Lederer and Alexander E Felice and Adamantia Papachatzopoulou and Alexandra Kourakli and Eleana F Stavrou and Soteroula Christou and Jun Hou and Sophia Karkabouna and Christina Lappa-Manakou and Zeliha Ozgur and Wilfred van Ijcken and Marieke von Lindern and Frank G Grosveld and Marianthi Georgitsi and Marina Kleanthous and Sjaak Philipsen and George P Patrinos},
  journal = {Pharmacogenomics},
  year = {2012},
  volume = {13},
  number = {13},
  pages = {1487-500},
  doi = {10.2217/pgs.12.125},
  url = {https://doi.org/10.2217/pgs.12.125},
  note = {Journal article}
}

@article{Borg_2012_47,
  title = {Golden Helix Pharmacogenomics Days: educational activities on pharmacogenomics and personalized medicine},
  author = {Alessio Squassina and Giovanni Severino and Godfrey Grech and Anthony Fenech and Joseph Borg and George P Patrinos},
  journal = {Pharmacogenomics},
  year = {2012},
  volume = {13},
  number = {5},
  pages = {525-8},
  doi = {10.2217/pgs.12.22},
  url = {https://doi.org/10.2217/pgs.12.22},
  note = {Journal article}
}

@article{Borg_2011_48,
  title = {Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder},
  author = {Alessio Squassina and Mirko Manchia and Joseph Borg and Donatella Congiu and Marta Costa and Marianthi Georgitsi and Caterina Chillotti and Raffaella Ardau and Konstantinos Mitropoulos and Giovanni Severino and Maria Del Zompo and George P Patrinos},
  journal = {Pharmacogenomics},
  year = {2011},
  volume = {12},
  number = {11},
  pages = {1559-69},
  doi = {10.2217/pgs.11.102},
  url = {https://doi.org/10.2217/pgs.11.102},
  note = {Journal article}
}

@article{Borg_2011_49,
  title = {Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach},
  author = {Belinda Giardine and Joseph Borg and Douglas R Higgs and Kenneth R Peterson and Sjaak Philipsen and Donna Maglott and Belinda K Singleton and David J Anstee and A Nazli Basak and Barnaby Clark and Flavia C Costa and Paula Faustino and Halyna Fedosyuk and Alex E Felice and Alain Francina and Renzo Galanello and Monica V E Gallivan and Marianthi Georgitsi and Richard J Gibbons and Piero C Giordano and Cornelis L Harteveld and James D Hoyer and Martin Jarvis and Philippe Joly and Emmanuel Kanavakis and Panagoula Kollia and Stephan Menzel and Webb Miller and Kamran Moradkhani and John Old and Adamantia Papachatzopoulou and Manoussos N Papadakis and Petros Papadopoulos and Sonja Pavlovic and Lucia Perseu and Milena Radmilovic and Cathy Riemer and Stefania Satta and Iris Schrijver and Maja Stojiljkovic and Swee Lay Thein and Jan Traeger-Synodinos and Ray Tully and Takahito Wada and John S Waye and Claudia Wiemann and Branka Zukic and David H K Chui and Henri Wajcman and Ross C Hardison and George P Patrinos},
  journal = {Nature Genetics},
  year = {2011},
  volume = {43},
  number = {4},
  pages = {295-301},
  doi = {10.1038/ng.785},
  url = {https://doi.org/10.1038/ng.785},
  note = {Research article}
}

@article{Borg_2011_50,
  title = {Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection},
  author = {George P Patrinos and Jumana Al Aama and Aida Al Aqeel and Fahd Al-Mulla and Joseph Borg and Andrew Devereux and Alex E Felice and Finlay Macrae and Makia J Marafie and Michael B Petersen and Ming Qi and Rajkumar S Ramesar and Joel Zlotogora and Richard G H Cotton},
  journal = {Human Mutation},
  year = {2011},
  volume = {32},
  number = {1},
  pages = {2-9},
  doi = {10.1002/humu.21397},
  url = {https://doi.org/10.1002/humu.21397},
  note = {Journal article}
}

@article{Borg_2011_51,
  title = {Erythroid phenotypes associated with KLF1 mutations},
  author = {Joseph Borg and George P Patrinos and Alex E Felice and Sjaak Philipsen},
  journal = {Haematologica},
  year = {2011},
  volume = {96},
  number = {5},
  pages = {635-8},
  doi = {10.3324/haematol.2011.043265},
  url = {https://doi.org/10.3324/haematol.2011.043265},
  note = {Editorial}
}

@article{Borg_2010_52,
  title = {Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin},
  author = {Joseph Borg and Petros Papadopoulos and Marianthi Georgitsi and Laura Gutiérrez and Godfrey Grech and Pavlos Fanis and Marios Phylactides and Annemieke J M H Verkerk and Peter J van der Spek and Christian A Scerri and Wilhelmina Cassar and Ruth Galdies and Wilfred van Ijcken and Zeliha Ozgür and Nynke Gillemans and Jun Hou and Marisa Bugeja and Frank G Grosveld and Marieke von Lindern and Alex E Felice and George P Patrinos and Sjaak Philipsen},
  journal = {Nature Genetics},
  year = {2010},
  volume = {42},
  number = {9},
  pages = {801-5},
  doi = {10.1038/ng.630},
  url = {https://doi.org/10.1038/ng.630},
  note = {Research letter}
}

@article{Borg_2010_53,
  title = {A case-control study of Parkinson's disease and tobacco use: gene-tobacco interactions},
  author = {Giuseppe De Palma and Finlay D Dick and Stefano Calzetti and Neil W Scott and Gordon J Prescott and Aileen Osborne and Neva Haites and Paola Mozzoni and Anna Negrotti and Augusto Scaglioni and Antonio Mutti and Geoparkinson Study Group},
  journal = {Movement Disorders},
  year = {2010},
  volume = {25},
  number = {7},
  pages = {912-9},
  doi = {10.1002/mds.22980},
  url = {https://doi.org/10.1002/mds.22980},
  note = {Journal article}
}

@article{Borg_2009_54,
  title = {Genetic recombination as a major cause of mutagenesis in the human globin gene clusters},
  author = {Joseph Borg and Marianthi Georgitsi and Vassiliki Aleporou-Marinou and Panagoula Kollia and George P Patrinos},
  journal = {Clinical Biochemistry},
  year = {2009},
  volume = {42},
  number = {18},
  pages = {1839-50},
  doi = {10.1016/j.clinbiochem.2009.07.014},
  url = {https://doi.org/10.1016/j.clinbiochem.2009.07.014},
  note = {Review}
}

@article{Borg_2009_55,
  title = {Variants within protectin (CD59) and CD44 genes linked to an inherited haplotype in a family with coeliac disease},
  author = {C Vidal and J Borg and A Xuereb-Anastasi and C A Scerri},
  journal = {Tissue Antigens},
  year = {2009},
  volume = {73},
  number = {3},
  pages = {225-35},
  doi = {10.1111/j.1399-0039.2008.01193.x},
  url = {https://doi.org/10.1111/j.1399-0039.2008.01193.x},
  note = {Journal article}
}

@article{Borg_2007_56,
  title = {A review of cis-trans interplay between DNA sequences 5' to the (G)gamma- and beta-globin genes among Hb F-Malta-I heterozygotes/homozygotes and beta-thalassemia homozygotes/compound heterozygotes, and the effects of hydroxyurea on the Hb F/F-erythrocyte; the need for large multicenter trials},
  author = {Alex E Felice and Joseph Borg and Monica Pizzuto and Wilhelmina Cassar and Ruth Galdies and Stephanie Bezzina Wettinger and Svetlana Pulis and Gary J Hunter and Mary R Caruana and Mario Farrugia and Christian A Scerri},
  journal = {Hemoglobin},
  year = {2007},
  volume = {31},
  number = {2},
  pages = {279-88},
  doi = {10.1080/03630260701297261},
  url = {https://doi.org/10.1080/03630260701297261},
  note = {Review}
}
