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911 results

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Page 1
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I, Mizzi C, Giannopoulou E, Pavlidis C, Peters BA, Zagoriti Z, Stenson PD, Mitropoulos K, Borg J, Kalofonos HP, Drmanac R, Stubbs A, van der Spek P, Cooper DN, Katsila T, Patrinos GP. Karageorgos I, et al. Among authors: borg j. Hum Genomics. 2015 Jun 20;9(1):12. doi: 10.1186/s40246-015-0034-2. Hum Genomics. 2015. PMID: 26092435 Free PMC article.
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations.
Giardine B, Borg J, Viennas E, Pavlidis C, Moradkhani K, Joly P, Bartsakoulia M, Riemer C, Miller W, Tzimas G, Wajcman H, Hardison RC, Patrinos GP. Giardine B, et al. Among authors: borg j. Nucleic Acids Res. 2014 Jan;42(Database issue):D1063-9. doi: 10.1093/nar/gkt911. Epub 2013 Oct 16. Nucleic Acids Res. 2014. PMID: 24137000 Free PMC article.
Novel genetic risk variants for pediatric celiac disease.
Balasopoulou A, Stanković B, Panagiotara A, Nikčevic G, Peters BA, John A, Mendrinou E, Stratopoulos A, Legaki AI, Stathakopoulou V, Tsolia A, Govaris N, Govari S, Zagoriti Z, Poulas K, Kanariou M, Constantinidou N, Krini M, Spanou K, Radlovic N, Ali BR, Borg J, Drmanac R, Chrousos G, Pavlovic S, Roma E, Zukic B, Patrinos GP, Katsila T. Balasopoulou A, et al. Among authors: borg j. Hum Genomics. 2016 Oct 24;10(1):34. doi: 10.1186/s40246-016-0091-1. Hum Genomics. 2016. PMID: 27836013 Free PMC article.
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP. Giardine B, et al. Among authors: borg j. Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785. Nat Genet. 2011. PMID: 21423179 Free PMC article.
Genomic variation in the MAP3K5 gene is associated with β-thalassemia disease severity and hydroxyurea treatment efficacy.
Tafrali C, Paizi A, Borg J, Radmilovic M, Bartsakoulia M, Giannopoulou E, Giannakopoulou O, Stojiljkovic-Petrovic M, Zukic B, Poulas K, Stavrou EF, Lambropoulou P, Kourakli A, Felice AE, Papachatzopoulou A, Philipsen S, Pavlovic S, Georgitsi M, Patrinos GP. Tafrali C, et al. Among authors: borg j. Pharmacogenomics. 2013 Apr;14(5):469-83. doi: 10.2217/pgs.13.31. Pharmacogenomics. 2013. PMID: 23556445
Erythroid phenotypes associated with KLF1 mutations.
Borg J, Patrinos GP, Felice AE, Philipsen S. Borg J, et al. Haematologica. 2011 May;96(5):635-8. doi: 10.3324/haematol.2011.043265. Haematologica. 2011. PMID: 21531944 Free PMC article. No abstract available.
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