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Page 1
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.
Vidal EA, Moyano TC, Bustos BI, Pérez-Palma E, Moraga C, Riveras E, Montecinos A, Azócar L, Soto DC, Vidal M, Di Genova A, Puschel K, Nürnberg P, Buch S, Hampe J, Allende ML, Cambiazo V, González M, Hodar C, Montecino M, Muñoz-Espinoza C, Orellana A, Reyes-Jara A, Travisany D, Vizoso P, Moraga M, Eyheramendy S, Maass A, De Ferrari GV, Miquel JF, Gutiérrez RA. Vidal EA, et al. Among authors: hampe j. Sci Rep. 2019 Feb 14;9(1):2132. doi: 10.1038/s41598-019-39391-z. Sci Rep. 2019. PMID: 30765821 Free PMC article.
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
Buch S, Schafmayer C, Völzke H, Becker C, Franke A, von Eller-Eberstein H, Kluck C, Bässmann I, Brosch M, Lammert F, Miquel JF, Nervi F, Wittig M, Rosskopf D, Timm B, Höll C, Seeger M, ElSharawy A, Lu T, Egberts J, Fändrich F, Fölsch UR, Krawczak M, Schreiber S, Nürnberg P, Tepel J, Hampe J. Buch S, et al. Among authors: hampe j. Nat Genet. 2007 Aug;39(8):995-9. doi: 10.1038/ng2101. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632509
Efficacy assessment of SNP sets for genome-wide disease association studies.
Wollstein A, Herrmann A, Wittig M, Nothnagel M, Franke A, Nürnberg P, Schreiber S, Krawczak M, Hampe J. Wollstein A, et al. Among authors: hampe j. Nucleic Acids Res. 2007;35(17):e113. doi: 10.1093/nar/gkm621. Epub 2007 Aug 28. Nucleic Acids Res. 2007. PMID: 17726055 Free PMC article.
Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus.
von Kampen O, Buch S, Nothnagel M, Azocar L, Molina H, Brosch M, Erhart W, von Schönfels W, Egberts J, Seeger M, Arlt A, Balschun T, Franke A, Lerch MM, Mayerle J, Kratzer W, Boehm BO, Huse K, Schniewind B, Tiemann K, Jiang ZY, Han TQ, Mittal B, Srivastava A, Fenger M, Jørgensen T, Schirin-Sokhan R, Tönjes A, Wittenburg H, Stumvoll M, Kalthoff H, Lammert F, Tepel J, Puschel K, Becker T, Schreiber S, Platzer M, Völzke H, Krawczak M, Miquel JF, Schafmayer C, Hampe J. von Kampen O, et al. Among authors: hampe j. Hepatology. 2013 Jun;57(6):2407-17. doi: 10.1002/hep.26009. Epub 2013 Jan 25. Hepatology. 2013. PMID: 22898925
Genetics of biliary lithiasis from an ethnic perspective.
Krawczyk M, Miquel JF, Stokes CS, Zuniga S, Hampe J, Mittal B, Lammert F. Krawczyk M, et al. Among authors: hampe j. Clin Res Hepatol Gastroenterol. 2013 Apr;37(2):119-25. doi: 10.1016/j.clinre.2012.09.002. Epub 2013 Jan 20. Clin Res Hepatol Gastroenterol. 2013. PMID: 23340007 Review.
Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.
Yang R, Chen B, Pfütze K, Buch S, Steinke V, Holinski-Feder E, Stöcker S, von Schönfels W, Becker T, Schackert HK, Royer-Pokora B, Kloor M, Schmiegel WH, Büttner R, Engel C, Lascorz Puertolas J, Försti A, Kunkel N, Bugert P, Schreiber S, Krawczak M, Schafmayer C, Propping P, Hampe J, Hemminki K, Burwinkel B. Yang R, et al. Among authors: hampe j. Carcinogenesis. 2014 Feb;35(2):315-23. doi: 10.1093/carcin/bgt344. Epub 2013 Oct 14. Carcinogenesis. 2014. PMID: 24127187
[Prevalence of Gilbert syndrome and its genetic determinants in Chile].
Méndez L, Lagoa M, Quiroga T, Margozzini P, Azócar L, Molina HR, Vera A, Villarroel L, Arrese M, Hampe J, Buch S, Miquel JF. Méndez L, et al. Among authors: hampe j. Rev Med Chil. 2013 Oct;141(10):1266-74. doi: 10.4067/S0034-98872013001000005. Rev Med Chil. 2013. PMID: 24522354 Free article. Spanish.
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.
Timofeeva MN, Kinnersley B, Farrington SM, Whiffin N, Palles C, Svinti V, Lloyd A, Gorman M, Ooi LY, Hosking F, Barclay E, Zgaga L, Dobbins S, Martin L, Theodoratou E, Broderick P, Tenesa A, Smillie C, Grimes G, Hayward C, Campbell A, Porteous D, Deary IJ, Harris SE, Northwood EL, Barrett JH, Smith G, Wolf R, Forman D, Morreau H, Ruano D, Tops C, Wijnen J, Schrumpf M, Boot A, Vasen HF, Hes FJ, van Wezel T, Franke A, Lieb W, Schafmayer C, Hampe J, Buch S, Propping P, Hemminki K, Försti A, Westers H, Hofstra R, Pinheiro M, Pinto C, Teixeira M, Ruiz-Ponte C, Fernández-Rozadilla C, Carracedo A, Castells A, Castellví-Bel S, Campbell H, Bishop DT, Tomlinson IP, Dunlop MG, Houlston RS. Timofeeva MN, et al. Among authors: hampe j. Sci Rep. 2015 Nov 10;5:16286. doi: 10.1038/srep16286. Sci Rep. 2015. PMID: 26553438 Free PMC article.
417 results