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Sarcoidosis is associated with a truncating splice site mutation in BTNL2.
Valentonyte R, Hampe J, Huse K, Rosenstiel P, Albrecht M, Stenzel A, Nagy M, Gaede KI, Franke A, Haesler R, Koch A, Lengauer T, Seegert D, Reiling N, Ehlers S, Schwinger E, Platzer M, Krawczak M, Müller-Quernheim J, Schürmann M, Schreiber S. Valentonyte R, et al. Among authors: platzer m. Nat Genet. 2005 Apr;37(4):357-64. doi: 10.1038/ng1519. Epub 2005 Feb 27. Nat Genet. 2005. PMID: 15735647
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1.
Hampe J, Franke A, Rosenstiel P, Till A, Teuber M, Huse K, Albrecht M, Mayr G, De La Vega FM, Briggs J, Günther S, Prescott NJ, Onnie CM, Häsler R, Sipos B, Fölsch UR, Lengauer T, Platzer M, Mathew CG, Krawczak M, Schreiber S. Hampe J, et al. Among authors: platzer m. Nat Genet. 2007 Feb;39(2):207-11. doi: 10.1038/ng1954. Epub 2006 Dec 31. Nat Genet. 2007. PMID: 17200669
Systematic association mapping identifies NELL1 as a novel IBD disease gene.
Franke A, Hampe J, Rosenstiel P, Becker C, Wagner F, Häsler R, Little RD, Huse K, Ruether A, Balschun T, Wittig M, Elsharawy A, Mayr G, Albrecht M, Prescott NJ, Onnie CM, Fournier H, Keith T, Radelof U, Platzer M, Mathew CG, Stoll M, Krawczak M, Nürnberg P, Schreiber S. Franke A, et al. Among authors: platzer m. PLoS One. 2007 Aug 8;2(8):e691. doi: 10.1371/journal.pone.0000691. PLoS One. 2007. PMID: 17684544 Free PMC article.
Systematic evaluation of the effect of common SNPs on pre-mRNA splicing.
ElSharawy A, Hundrieser B, Brosch M, Wittig M, Huse K, Platzer M, Becker A, Simon M, Rosenstiel P, Schreiber S, Krawczak M, Hampe J. ElSharawy A, et al. Among authors: platzer m. Hum Mutat. 2009 Apr;30(4):625-32. doi: 10.1002/humu.20906. Hum Mutat. 2009. PMID: 19191320
377 results