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Direct-access genetic testing: the view from Europe.
Kricka LJ, Fortina P, Mai Y, Patrinos GP. Kricka LJ, et al. Among authors: patrinos gp. Nat Rev Genet. 2011 Sep 13;12(10):670. doi: 10.1038/nrg3073. Nat Rev Genet. 2011. PMID: 21915107 No abstract available.
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: patrinos gp. Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785. Nat Genet. 2011. PMID: 21423179 Free PMC article.
HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server.
Hardison RC, Chui DH, Giardine B, Riemer C, Patrinos GP, Anagnou N, Miller W, Wajcman H. Hardison RC, et al. Among authors: patrinos gp. Hum Mutat. 2002 Mar;19(3):225-33. doi: 10.1002/humu.10044. Hum Mutat. 2002. PMID: 11857738
Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies.
Patrinos GP, Kollia P, Papadakis MN. Patrinos GP, et al. Hum Mutat. 2005 Nov;26(5):399-412. doi: 10.1002/humu.20225. Hum Mutat. 2005. PMID: 16138310 Review.
HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update.
Giardine B, van Baal S, Kaimakis P, Riemer C, Miller W, Samara M, Kollia P, Anagnou NP, Chui DH, Wajcman H, Hardison RC, Patrinos GP. Giardine B, et al. Among authors: patrinos gp. Hum Mutat. 2007 Feb;28(2):206. doi: 10.1002/humu.9479. Hum Mutat. 2007. PMID: 17221864
Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country.
Samara M, Chiotoglou I, Kalamaras A, Likousi S, Chassanidis C, Vagena A, Vagenas C, Eftichiadis E, Vamvakopoulos N, Patrinos GP, Kollia P. Samara M, et al. Among authors: patrinos gp. Am J Hematol. 2007 Jul;82(7):634-6. doi: 10.1002/ajh.20889. Am J Hematol. 2007. PMID: 17301974
PhenCode: connecting ENCODE data with mutations and phenotype.
Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang Y, Elnitski L, Cutting G, Trumbower H, Kern A, Kuhn R, Patrinos GP, Hughes J, Higgs D, Chui D, Scriver C, Phommarinh M, Patnaik SK, Blumenfeld O, Gottlieb B, Vihinen M, Väliaho J, Kent J, Miller W, Hardison RC. Giardine B, et al. Among authors: patrinos gp. Hum Mutat. 2007 Jun;28(6):554-62. doi: 10.1002/humu.20484. Hum Mutat. 2007. PMID: 17326095
Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.
Borg J, Papadopoulos P, Georgitsi M, Gutiérrez L, Grech G, Fanis P, Phylactides M, Verkerk AJ, van der Spek PJ, Scerri CA, Cassar W, Galdies R, van Ijcken W, Ozgür Z, Gillemans N, Hou J, Bugeja M, Grosveld FG, von Lindern M, Felice AE, Patrinos GP, Philipsen S. Borg J, et al. Among authors: patrinos gp. Nat Genet. 2010 Sep;42(9):801-5. doi: 10.1038/ng.630. Epub 2010 Aug 1. Nat Genet. 2010. PMID: 20676099 Free PMC article.
Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain.
Patrinos GP, Cooper DN, van Mulligen E, Gkantouna V, Tzimas G, Tatum Z, Schultes E, Roos M, Mons B. Patrinos GP, et al. Hum Mutat. 2012 Nov;33(11):1503-12. doi: 10.1002/humu.22144. Epub 2012 Jul 23. Hum Mutat. 2012. PMID: 22736453
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: patrinos gp. 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.
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