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VarWatch-A stand-alone software tool for variant matching.
Fredrich B, Schmöhl M, Junge O, Gundlach S, Ellinghaus D, Pfeufer A, Bettecken T, Siddiqui R, Franke A, Wienker TF, Hoeppner MP, Krawczak M. Fredrich B, et al. Among authors: pfeufer a. PLoS One. 2019 Apr 25;14(4):e0215618. doi: 10.1371/journal.pone.0215618. eCollection 2019. PLoS One. 2019. PMID: 31022234 Free PMC article.
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: pfeufer a. 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.
Genetic structure of Europeans: a view from the North-East.
Nelis M, Esko T, Mägi R, Zimprich F, Zimprich A, Toncheva D, Karachanak S, Piskácková T, Balascák I, Peltonen L, Jakkula E, Rehnström K, Lathrop M, Heath S, Galan P, Schreiber S, Meitinger T, Pfeufer A, Wichmann HE, Melegh B, Polgár N, Toniolo D, Gasparini P, D'Adamo P, Klovins J, Nikitina-Zake L, Kucinskas V, Kasnauskiene J, Lubinski J, Debniak T, Limborska S, Khrunin A, Estivill X, Rabionet R, Marsal S, Julià A, Antonarakis SE, Deutsch S, Borel C, Attar H, Gagnebin M, Macek M, Krawczak M, Remm M, Metspalu A. Nelis M, et al. Among authors: pfeufer a. PLoS One. 2009;4(5):e5472. doi: 10.1371/journal.pone.0005472. Epub 2009 May 8. PLoS One. 2009. PMID: 19424496 Free PMC article.
Linkage disequilibrium patterns and tagSNP transferability among European populations.
Mueller JC, Lõhmussaar E, Mägi R, Remm M, Bettecken T, Lichtner P, Biskup S, Illig T, Pfeufer A, Luedemann J, Schreiber S, Pramstaller P, Pichler I, Romeo G, Gaddi A, Testa A, Wichmann HE, Metspalu A, Meitinger T. Mueller JC, et al. Among authors: pfeufer a. Am J Hum Genet. 2005 Mar;76(3):387-98. doi: 10.1086/427925. Epub 2005 Jan 6. Am J Hum Genet. 2005. PMID: 15637659 Free PMC article.
A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.
Meder B, Rühle F, Weis T, Homuth G, Keller A, Franke J, Peil B, Lorenzo Bermejo J, Frese K, Huge A, Witten A, Vogel B, Haas J, Völker U, Ernst F, Teumer A, Ehlermann P, Zugck C, Friedrichs F, Kroemer H, Dörr M, Hoffmann W, Maisch B, Pankuweit S, Ruppert V, Scheffold T, Kühl U, Schultheiss HP, Kreutz R, Ertl G, Angermann C, Charron P, Villard E, Gary F, Isnard R, Komajda M, Lutz M, Meitinger T, Sinner MF, Wichmann HE, Krawczak M, Ivandic B, Weichenhan D, Gelbrich G, El-Mokhtari NE, Schreiber S, Felix SB, Hasenfuß G, Pfeufer A, Hübner N, Kääb S, Arbustini E, Rottbauer W, Frey N, Stoll M, Katus HA. Meder B, et al. Among authors: pfeufer a. Eur Heart J. 2014 Apr;35(16):1069-77. doi: 10.1093/eurheartj/eht251. Epub 2013 Jul 12. Eur Heart J. 2014. PMID: 23853074
SNiPA: an interactive, genetic variant-centered annotation browser.
Arnold M, Raffler J, Pfeufer A, Suhre K, Kastenmüller G. Arnold M, et al. Among authors: pfeufer a. Bioinformatics. 2015 Apr 15;31(8):1334-6. doi: 10.1093/bioinformatics/btu779. Epub 2014 Nov 26. Bioinformatics. 2015. PMID: 25431330 Free PMC article.
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Grohmann K, Schuelke M, Diers A, Hoffmann K, Lucke B, Adams C, Bertini E, Leonhardt-Horti H, Muntoni F, Ouvrier R, Pfeufer A, Rossi R, Van Maldergem L, Wilmshurst JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C. Grohmann K, et al. Among authors: pfeufer a. Nat Genet. 2001 Sep;29(1):75-7. doi: 10.1038/ng703. Nat Genet. 2001. PMID: 11528396
101 results