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Page 1
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
EPICURE Consortium; EMINet Consortium; Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T. EPICURE Consortium, et al. Among authors: ellinghaus d. Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4. Hum Mol Genet. 2012. PMID: 22949513
Genetic coding variant in complement factor B (CFB) is associated with increased risk for perianal Crohn's disease and leads to impaired CFB cleavage and phagocytosis.
Akhlaghpour M, Haritunians T, More SK, Thomas LS, Stamps DT, Dube S, Li D, Yang S, Landers CJ, Mengesha E, Hamade H, Murali R, Potdar AA, Wolf AJ, Botwin GJ, Khrom M; International IBD Genetics Consortium; Ananthakrishnan AN, Faubion WA, Jabri B, Lira SA, Newberry RD, Sandler RS, Sartor RB, Xavier RJ, Brant SR, Cho JH, Duerr RH, Lazarev MG, Rioux JD, Schumm LP, Silverberg MS, Zaghiyan K, Fleshner P, Melmed GY, Vasiliauskas EA, Ha C, Rabizadeh S, Syal G, Bonthala NN, Ziring DA, Targan SR, Long MD, McGovern DPB, Michelsen KS. Akhlaghpour M, et al. Gut. 2023 Nov;72(11):2068-2080. doi: 10.1136/gutjnl-2023-329689. Epub 2023 Apr 20. Gut. 2023. PMID: 37080587 Free article.
Sex differences in the genetics of sarcoidosis across European and African ancestry populations.
Xiong Y, Kullberg S, Garman L, Pezant N, Ellinghaus D, Vasila V, Eklund A, Rybicki BA, Iannuzzi MC, Schreiber S, Müller-Quernheim J, Montgomery CG, Grunewald J, Padyukov L, Rivera NV. Xiong Y, et al. Among authors: ellinghaus d. Front Med (Lausanne). 2023 May 11;10:1132799. doi: 10.3389/fmed.2023.1132799. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37250650 Free PMC article.
HLA-DP on Epithelial Cells Enables Tissue Damage by NKp44+ Natural Killer Cells in Ulcerative Colitis.
Baumdick ME, Niehrs A, Degenhardt F, Schwerk M, Hinrichs O, Jordan-Paiz A, Padoan B, Wegner LHM, Schloer S, Zecher BF, Malsy J, Joshi VR, Illig C, Schröder-Schwarz J, Möller KJ; Hamburg Intestinal Tissue Study Group; Martin MP, Yuki Y, Ozawa M, Sauter J, Schmidt AH, Perez D, Giannou AD, Carrington M, Davis RS, Schumacher U, Sauter G, Huber S, Puelles VG, Melling N, Franke A; International Inflammatory Bowel Disease Genetics Consortium; Altfeld M, Bunders MJ. Baumdick ME, et al. Gastroenterology. 2023 Oct;165(4):946-962.e13. doi: 10.1053/j.gastro.2023.06.034. Epub 2023 Jul 15. Gastroenterology. 2023. PMID: 37454979 Free article.
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.
Franke A, Balschun T, Karlsen TH, Sventoraityte J, Nikolaus S, Mayr G, Domingues FS, Albrecht M, Nothnagel M, Ellinghaus D, Sina C, Onnie CM, Weersma RK, Stokkers PC, Wijmenga C, Gazouli M, Strachan D, McArdle WL, Vermeire S, Rutgeerts P, Rosenstiel P, Krawczak M, Vatn MH; IBSEN study group; Mathew CG, Schreiber S. Franke A, et al. Among authors: ellinghaus d. Nat Genet. 2008 Nov;40(11):1319-23. doi: 10.1038/ng.221. Epub 2008 Oct 5. Nat Genet. 2008. PMID: 18836448
A comprehensive evaluation of SNP genotype imputation.
Nothnagel M, Ellinghaus D, Schreiber S, Krawczak M, Franke A. Nothnagel M, et al. Among authors: ellinghaus d. Hum Genet. 2009 Mar;125(2):163-71. doi: 10.1007/s00439-008-0606-5. Epub 2008 Dec 17. Hum Genet. 2009. PMID: 19089453
Current software for genotype imputation.
Ellinghaus D, Schreiber S, Franke A, Nothnagel M. Ellinghaus D, et al. Hum Genomics. 2009 Jul;3(4):371-80. doi: 10.1186/1479-7364-3-4-371. Hum Genomics. 2009. PMID: 19706367 Free PMC article.
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).
Franke A, Balschun T, Sina C, Ellinghaus D, Häsler R, Mayr G, Albrecht M, Wittig M, Buchert E, Nikolaus S, Gieger C, Wichmann HE, Sventoraityte J, Kupcinskas L, Onnie CM, Gazouli M, Anagnou NP, Strachan D, McArdle WL, Mathew CG, Rutgeerts P, Vermeire S, Vatn MH; IBSEN study group; Krawczak M, Rosenstiel P, Karlsen TH, Schreiber S. Franke A, et al. Among authors: ellinghaus d. Nat Genet. 2010 Apr;42(4):292-4. doi: 10.1038/ng.553. Epub 2010 Mar 14. Nat Genet. 2010. PMID: 20228798
Genome-wide association study identifies a psoriasis susceptibility locus at TRAF3IP2.
Ellinghaus E, Ellinghaus D, Stuart PE, Nair RP, Debrus S, Raelson JV, Belouchi M, Fournier H, Reinhard C, Ding J, Li Y, Tejasvi T, Gudjonsson J, Stoll SW, Voorhees JJ, Lambert S, Weidinger S, Eberlein B, Kunz M, Rahman P, Gladman DD, Gieger C, Wichmann HE, Karlsen TH, Mayr G, Albrecht M, Kabelitz D, Mrowietz U, Abecasis GR, Elder JT, Schreiber S, Weichenthal M, Franke A. Ellinghaus E, et al. Among authors: ellinghaus d. Nat Genet. 2010 Nov;42(11):991-5. doi: 10.1038/ng.689. Epub 2010 Oct 17. Nat Genet. 2010. PMID: 20953188 Free PMC article.
139 results