基本信息
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职业迁徙
个人简介
1981 Diploma in Biology, Humboldt-University Berlin 。 1981-1984 Ph.D. thesis (Dr. rer. nat.) in Biochemistry, Humboldt-University Berlin 。 1984-1987 Post-doc at the Central Institute of Molecular Biology, Berlin-Buch 。
1987-1989 Staff member, Institute of Medical Genetics, Charité, Berlin 。 1990 Visiting Research Investigator, AG Epplen, Max Planck Institute of Psychiatry, Martinsried/ Bavaria 。 1990-2000 Head of the Dept. of Molecular Genetics, Institute of Medical Genetics, Charité, Berlin 。 1997 Postdoctoral lecturing qualification (Habilitation) with papers on genomic repetitive elements and their application as markers in molecular genetics, Humboldt-University Berlin 。 1998-2004 Appointment to “Oberassistent” (C2) at the Institute of Medical Genetics, Charité, Berlin 。 2000-2004 Head of the Gene Mapping Center (GMC) at the Max Delbrück Center (MDC) for Molecular Medicine, Berlin-Buch 。 Since 2004 Professor (full) of Genomics, University of Cologne, Head of the Cologne Center for Genomics 。
Research Activities:
Projects in CMMC (Centre of Molecular Medicine Cologne) ;
SFB577 ;
SFB680 ;
collaborative research projects within the NGFN ;
Network activities in GeneSkin ;
coordinating and core center activities in EPICURE (FP6)。
Selected Publications:
Sayer JA, Otto EA, O'toole JF, Nürnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nürnberg P, Swaroop A, Leroux MR, and Hildebrandt F. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet. 2006, 38(6): 674-81.
Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, and Wollnik B. Mutations in different components of FGF signaling in LADD syndrome. Nat. Genet. 2006, 38: 414-7.
Franke A, Wollstein A, Teuber M, Wittig M, Lu T, Hoffmann K, Nürnberg P, Krawczak M, Schreiber S, and Hampe J. GENOMIZER:an integrated analysis system for genome-wide association data. Hum. Mutat. 2006, 27: 583-588.
Gödde R, Rohde K, Becker C, Toliat MR, Entz P, Suk A, Muller N, Sindern E, Haupts M, Schimrigk S, Nürnberg P, and Epplen JT. Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chips. J. Mol. Med. 2005, 83: 486-494.
Metherell LA, Chapple JP, Cooray S, David A, Becker C, Ruschendorf F, Naville D, Begeot M, Khoo B, Nürnberg P, Huebner A, Cheetham ME, and Clark AJ. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat. Genet. 2005, 37: 166-170.
研究兴趣
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European Journal of Human Geneticspp.1-5, (2024)
Julie George,Lukas Maas,Nima Abedpour,Maria Cartolano, Laura Kaiser,Rieke N. Fischer,Andreas H. Scheel, Jan-Philipp Weber, Martin Hellmich,Graziella Bosco, Caroline Volz, Christian Mueller,
Ilyas Ahmad,Juliane Lokau,Birte Kespohl,Naveed Altaf Malik,Shahid Mahmood Baig,Roland Hartig, Daniel Behme, Roland Schwab,Janine Altmüller,Muhammad Jameel,Sören Mucha,Holger Thiele,
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Simone Schröder,Gökhan Yigit,Yun Li,Janine Altmüller, Hans-Martin Büttel,Barbara Fiedler, Christoph Kretzschmar,Peter Nürnberg,Jürgen Seeger,Valentina Serpieri,Enza Maria Valente,Bernd Wollnik,
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Journal of human geneticsno. 9 (2023): 607-613
Luisa Averdunk,Khalid Al‐Thihli,Harald Surowy,Hermann‐Josef Lüdecke,Matthias Drechsler,Gökhan Yiğit,Lukasz Smorag, Bassam Al Hallak,Yun Li,Janine Altmüller,Tanja Guthoff, M. Wallot,
Clinical Geneticsno. 4 (2023): 484-491
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Clinical geneticsno. 2 (2023): 266-268
Acta Neuropathologicano. 6 (2023): 815-827
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