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Protein-coding variants contribute to the risk of atopic dermatitis and skin-specific gene expression.
Mucha S, Baurecht H, Novak N, Rodríguez E, Bej S, Mayr G, Emmert H, Stölzl D, Gerdes S, Jung ES, Degenhardt F, Hübenthal M, Ellinghaus E, Kässens JC, Wienbrandt L, Lieb W, Müller-Nurasyid M, Hotze M, Dand N, Grosche S, Marenholz I, Arnold A, Homuth G, Schmidt CO, Wehkamp U, Nöthen MM, Hoffmann P, Paternoster L, Standl M; Early Genetics and Lifecourse Epidemiology (EAGLE) Eczema Consortium; Bønnelykke K, Ahluwalia TS, Bisgaard H, Peters A, Gieger C, Waldenberger M, Schulz H, Strauch K, Werfel T, Lee YA, Wolfien M, Rosenstiel P, Wolkenhauer O, Schreiber S, Franke A, Weidinger S, Ellinghaus D. Mucha S, et al. Among authors: hoffmann p. J Allergy Clin Immunol. 2020 Apr;145(4):1208-1218. doi: 10.1016/j.jaci.2019.10.030. Epub 2019 Nov 9. J Allergy Clin Immunol. 2020. PMID: 31707051
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
Yildiz Y, Hoffmann P, Vom Dahl S, Breiden B, Sandhoff R, Niederau C, Horwitz M, Karlsson S, Filocamo M, Elstein D, Beck M, Sandhoff K, Mengel E, Gonzalez MC, Nöthen MM, Sidransky E, Zimran A, Mattheisen M. Yildiz Y, et al. Among authors: hoffmann p. Orphanet J Rare Dis. 2013 Sep 26;8:151. doi: 10.1186/1750-1172-8-151. Orphanet J Rare Dis. 2013. PMID: 24070122 Free PMC article.
Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway.
Al Chawa T, Ludwig KU, Fier H, Pötzsch B, Reich RH, Schmidt G, Braumann B, Daratsianos N, Böhmer AC, Schuencke H, Alblas M, Fricker N, Hoffmann P, Knapp M, Lange C, Nöthen MM, Mangold E. Al Chawa T, et al. Among authors: hoffmann p. Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):493-8. doi: 10.1002/bdra.23244. Epub 2014 Apr 7. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24706492
A common microdeletion affecting a hippocampus- and amygdala-specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders.
Hammer C, Degenhardt F, Priebe L, Stütz AM, Heilmann S, Waszak SM, Schlattl A, Mangold E, Hoffmann P, Nöthen MM, Rietschel M, Rappold G, Korbel J, Cichon S, Niesler B; MooDS Consortium. Hammer C, et al. Among authors: hoffmann p. Bipolar Disord. 2014 Nov;16(7):764-8. doi: 10.1111/bdi.12207. Epub 2014 Apr 23. Bipolar Disord. 2014. PMID: 24754353
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai ÅT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WH, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J; CARe Consortium; COGENT Consortium; Smith JG, Greiser KH, Meyer Zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ; DCCT/EDIC; Arnar DO, Hólm H, Thorsteinsdottir U; eMERGE Consortium; Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cumming… See abstract for full author list ➔ Arking DE, et al. Among authors: hoffmann p. Nat Genet. 2014 Aug;46(8):826-36. doi: 10.1038/ng.3014. Epub 2014 Jun 22. Nat Genet. 2014. PMID: 24952745 Free PMC article.
XRCC5 as a risk gene for alcohol dependence: evidence from a genome-wide gene-set-based analysis and follow-up studies in Drosophila and humans.
Juraeva D, Treutlein J, Scholz H, Frank J, Degenhardt F, Cichon S, Ridinger M, Mattheisen M, Witt SH, Lang M, Sommer WH, Hoffmann P, Herms S, Wodarz N, Soyka M, Zill P, Maier W, Jünger E, Gaebel W, Dahmen N, Scherbaum N, Schmäl C, Steffens M, Lucae S, Ising M, Smolka MN, Zimmermann US, Müller-Myhsok B, Nöthen MM, Mann K, Kiefer F, Spanagel R, Brors B, Rietschel M. Juraeva D, et al. Among authors: hoffmann p. Neuropsychopharmacology. 2015 Jan;40(2):361-71. doi: 10.1038/npp.2014.178. Epub 2014 Jul 18. Neuropsychopharmacology. 2015. PMID: 25035082 Free PMC article.
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
Horpaopan S, Spier I, Zink AM, Altmüller J, Holzapfel S, Laner A, Vogt S, Uhlhaas S, Heilmann S, Stienen D, Pasternack SM, Keppler K, Adam R, Kayser K, Moebus S, Draaken M, Degenhardt F, Engels H, Hofmann A, Nöthen MM, Steinke V, Perez-Bouza A, Herms S, Holinski-Feder E, Fröhlich H, Thiele H, Hoffmann P, Aretz S. Horpaopan S, et al. Among authors: hoffmann p. Int J Cancer. 2015 Mar 15;136(6):E578-89. doi: 10.1002/ijc.29215. Epub 2014 Sep 30. Int J Cancer. 2015. PMID: 25219767 Free article.
Defining the role of common variation in the genomic and biological architecture of adult human height.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, Amin N, Buchkovich ML, Croteau-Chonka DC, Day FR, Duan Y, Fall T, Fehrmann R, Ferreira T, Jackson AU, Karjalainen J, Lo KS, Locke AE, Mägi R, Mihailov E, Porcu E, Randall JC, Scherag A, Vinkhuyzen AA, Westra HJ, Winkler TW, Workalemahu T, Zhao JH, Absher D, Albrecht E, Anderson D, Baron J, Beekman M, Demirkan A, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Fraser RM, Goel A, Gong J, Justice AE, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Lui JC, Mangino M, Mateo Leach I, Medina-Gomez C, Nalls MA, Nyholt DR, Palmer CD, Pasko D, Pechlivanis S, Prokopenko I, Ried JS, Ripke S, Shungin D, Stancáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Afzal U, Arnlöv J, Arscott GM, Bandinelli S, Barrett A, Bellis C, Bennett AJ, Berne C, Blüher M, Bolton JL, Böttcher Y, Boyd HA, Bruinenberg M, Buckley BM, Buyske S, Caspersen IH, Chines PS, Clarke R, Claudi-Boehm S, Cooper M, Daw EW, De Jong PA, Deelen J, Delgado G, Denny JC, Dhonukshe-Rutten R, Dimitriou M, Doney AS, Dörr M, Eklund N, Eury E, F… See abstract for full author list ➔ Wood AR, et al. Among authors: hoffmann w, hoffmann p. Nat Genet. 2014 Nov;46(11):1173-86. doi: 10.1038/ng.3097. Epub 2014 Oct 5. Nat Genet. 2014. PMID: 25282103 Free PMC article.
Biological interpretation of genome-wide association studies using predicted gene functions.
Pers TH, Karjalainen JM, Chan Y, Westra HJ, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, Frayling T, Speliotes EK; Genetic Investigation of ANthropometric Traits (GIANT) Consortium; Boehnke M, Raychaudhuri S, Fehrmann RS, Hirschhorn JN, Franke L. Pers TH, et al. Nat Commun. 2015 Jan 19;6:5890. doi: 10.1038/ncomms6890. Nat Commun. 2015. PMID: 25597830 Free PMC article.
1,650 results