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Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.
Waage, J. and Standl, M. and Curtin, J.A. and Jessen, L.E. and Thorsen, J. and Tian, C. and Schoettler, N. and Flores, C. and Abdellaoui, A. and Ahluwalia, T.S. and Alves, A.C. and Amaral, A.F.S. and Antó, J.M. and Arnold, A. and Barreto-Luis, A. and Baurecht, H. and van Beijsterveldt, C.E.M. and Bleecker, E.R. and Bonàs-Guarch, S. and Boomsma, D.I. and Brix, S. and Bunyavanich, S. and Burchard, E.G. and Chen, Z. and Curjuric, I. and Custovic, A. and den Dekker, H.T. and Dharmage, S.C. and Dmitrieva, J. and Duijts, L. and Ege, M.J. and Gauderman, W.J. and Georges, M. and Gieger, C. and Gilliland, F. and Granell, R. and Gui, H. and Hansen, T. and Heinrich, J. and Henderson, J. and Hernandez-Pacheco, N. and Holt, P. and Imboden, M. and Jaddoe, V.W.V. and Jarvelin, M.R. and Jarvis, D.L. and Jensen, K.K. and Jónsdóttir, I. and Kabesch, M. and Kaprio, J. and Kumar, A. and Lee, Y.A. and Levin, A.M. and Li, X. and Lorenzo-Diaz, F. and Melén, E. and Mercader, J.M. and Meyers, D.A. and Myers, R. and Nicolae, D.L. and Nohr, E.A. and Palviainen, T. and Paternoster, L. and Pennell, C.E. and Pershagen, G. and Pino-Yanes, M. and Probst-Hensch, N.M. and Rüschendorf, F. and Simpson, A. and Stefansson, K. and Sunyer, J. and Sveinbjornsson, G. and Thiering, E. and Thompson, P.J. and Torrent, M. and Torrents, D. and Tung, J.Y. and Wang, C.A. and Weidinger, S. and Weiss, S. and Willemsen, G. and Williams, L.K. and Ober, C. and Hinds, D.A. and Ferreira, M.A. and Bisgaard, H. and Strachan, D.P. and Bønnelykke, K.
Nature Genetics 50 (8): 1072-1080. August 2018

Polymer physics predicts the effects of structural variants on chromatin architecture.
Bianco, S. and Lupiáñez, D.G. and Chiariello, A.M. and Annunziatella, C. and Kraft, K. and Schöpflin, R. and Wittler, L. and Andrey, G. and Vingron, M. and Pombo, A. and Mundlos, S. and Nicodemi, M.
Nature Genetics 50 (5): 662-667. May 2018

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.
Fernandes-Rosa, F.L. and Daniil, G. and Orozco, I.J. and Göppner, C. and El Zein, R. and Jain, V. and Boulkroun, S. and Jeunemaitre, X. and Amar, L. and Lefebvre, H. and Schwarzmayr, T. and Strom, T.M. and Jentsch, T.J. and Zennaro, M.C.
Nature Genetics 50 (3): 355-361. March 2018

CLCN2 chloride channel mutations in familial hyperaldosteronism type II.
Scholl, U.I. and Stölting, G. and Schewe, J. and Thiel, A. and Tan, H. and Nelson-Williams, C. and Vichot, A.A. and Jin, S.C. and Loring, E. and Untiet, V. and Yoo, T. and Choi, J. and Xu, S. and Wu, A. and Kirchner, M. and Mertins, P. and Rump, L.C. and Onder, A.M. and Gamble, C. and McKenney, D. and Lash, R.W. and Jones, D.P. and Chune, G. and Gagliardi, P. and Choi, M. and Gordon, R. and Stowasser, M. and Fahlke, C. and Lifton, R.P.
Nature Genetics 50 (3): 349-354. March 2018

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.
Demenais, F. and Margaritte-Jeannin, P. and Barnes, K.C. and Cookson, W.O.C. and Altmueller, J. and Ang, W. and Barr, R.G. and Beaty, T.H. and Becker, A.B. and Beilby, J. and Bisgaard, H. and Bjornsdottir, U.S. and Bleecker, E. and Bonnelykke, K. and Boomsma, D.I. and Bouzigon, E. and Brightling, C.E. and Brossard, M. and Brusselle, G.G. and Burchard, E. and Burkart, K.M. and Bush, A. and Chan-Yeung, M. and Chung, K.F. and Couto Alves, A. and Curtin, J.A. and Custovic, A. and Daley, D. and de Jongste, J.C. and Del-Rio-Navarro, B.E. and Donohue, K.M. and Duijts, L. and Eng, C. and Eriksson, J.G. and Farrall, M. and Fedorova, Y. and Feenstra, B. and Ferreira, M.A. and Freidin, M.B. and Gajdos, Z. and Gauderman, J. and Gehring, U. and Geller, F. and Genuneit, J. and Gharib, S.A and Gilliland, F. and Granell, R. and Graves, P.E. and Gudbjartsson, D.F. and Haahtela, T. and Heckbert, S.R. and Heederik, D. and Heinrich, J. and Helioevaara, M. and Henderson, J. and Himes, B.E. and Hirose, H. and Hirschhorn, J.N. and Hofman, A. and Holt, P. and Hottenga, J. and Hudson, T.J. and Hui, J. and Imboden, M. and Ivanov, V. and Jaddoe, V.W.V. and James, A. and Janson, C. and Jarvelin, M.R. and Jarvis, D. and Jones, G. and Jonsdottir, I. and Jousilahti, P. and Kabesch, M. and Kähönen, M. and Kantor, D.B. and Karunas, A.S. and Khusnutdinova, E. and Koppelman, G.H. and Kozyrskyj, A.L. and Kreiner, E. and Kubo, M. and Kumar, R. and Kumar, A. and Kuokkanen, M. and Lahousse, L. and Laitinen, T. and Laprise, C. and Lathrop, M. and Lau, S. and Lee, Y.A. and Lehtimaeki, T. and Letort, S. and Levin, A.M. and Li, G. and Liang, L. and Loehr, L.R. and London, S.J. and Loth, D.W. and Manichaikul, A. and Marenholz, I. and Martinez, F.J. and Matheson, M.C. and Mathias, R.A. and Matsumoto, K. and Mbarek, H. and McArdle, W.L. and Melbye, M. and Melen, E. and Meyers, D. and Michel, S. and Mohamdi, H. and Musk, A.W. and Myers, R.A. and Nieuwenhuis, M.A.E. and Noguchi, E. and O'Connor, G.T. and Ogorodova, L.M. and Palmer, C.D. and Palotie, A. and Park, J.E. and Pennell, C.E. and Pershagen, G. and Polonikov, A. and Postma, D.S. and Probst-Hensch, N. and Puzyrev, V.P. and Raby, B.A. and Raitakari, O.T. and Ramasamy, A. and Rich, S.S. and Robertson, C.F. and Romieu, I. and Salam, M.T. and Salomaa, V. and Schluenssen, V. and Scott, R. and Selivanova, P.A. and Sigsgaard, T. and Simpson, A. and Siroux, V. and Smith, L.J. and Solodilova, M. and Standl, M. and Stefansson, K. and Strachan, D.P. and Stricker, B.H. and Takahashi, A. and Thompson, P.J. and Thorleifsson, G. and Thorsteinsdottir, U. and Tiesler, C.M.T. and Torgerson, D.G. and Tsunoda, T. and Uitterlinden, A.G. and van der Valk, R.J.P. and Vaysse, A. and Vedantam, S. and von Berg, A. and von Mutius, E. and Vonk, J.M. and Waage, J. and Wareham, N.J. and Weiss, S.T. and White, W.B. and Wickman, M. and Widén, E. and Willemsen, G. and Williams, L.K. and Wouters, I.M. and Yang, J.J. and Zhao, J.H. and Moffatt, M.F. and Ober, C. and Nicolae, D.L.
Nature Genetics 50 (1): 42-53. January 2018


Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.
Ferreira, M.A. and Vonk, J.M. and Baurecht, H. and Marenholz, I. and Tian, C. and Hoffman, J.D. and Helmer, Q. and Tillander, A. and Ullemar, V. and van Dongen, J. and Lu, Yi and Rueschendorf, F. and Esparza-Gordillo, J. and Medway, C.W. and Mountjoy, E. and Burrows, K. and Hummel, O. and Grosche, S. and Brumpton, B.M. and Witte, J.S. and Hottenga, J.J. and Willemsen, G. and Zheng, J. and Rodriguez, E. and Hotze, M. and Franke, A. and Revez, J.A. and Beesley, J. and Matheson, M.C. and Dharmage, S.C. and Bain, L.M. and Fritsche, L.G. and Gabrielsen, M.E. and Balliu, B. and Nielsen, J.B. and Zhou, W. and Hveem, K. and Langhammer, A. and Holmen, O.L. and Løset, M. and Abecasis, G.R. and Willer, C.J. and Arnold, A. and Homuth, G. and Schmidt, C.O. and Thompson, P.J. and Martin, N.G. and Duffy, D.L. and Novak, N. and Schulz, H. and Karrasch, S. and Gieger, C. and Strauch, K. and Melles, R.B. and Hinds, D.A. and Hübner, N. and Weidinger, S. and Magnusson, P.K.E. and Jansen, R. and Jorgenson, E. and Lee, Y.A. and Boomsma, D.I. and Almqvist, C. and Karlsson, R. and Koppelman, G.H. and Paternoster, L.
Nature Genetics 49 (12): 1752-1757. December 2017

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).
Will, A.J. and Cova, G. and Osterwalder, M. and Chan, W.L. and Wittler, L. and Brieske, N. and Heinrich, V. and de Villartay, J.P. and Vingron, M. and Klopocki, E. and Visel, A. and Lupiáñez, D.G. and Mundlos, S.
Nature Genetics 49 (10): 1539-1545. October 2017

Titin-truncating variants affect heart function in disease cohorts and the general population.
Schafer, S. and de Marvao, A. and Adami, E. and Fiedler, L.R. and Ng, B. and Khin, E. and Rackham, O.J.L. and van Heesch, S. and Pua, C.J. and Kui, M. and Walsh, R. and Tayal, U. and Prasad, S.K. and Dawes, T.J.W. and Ko, N.S.J. and Sim, D. and Chan, L.L.H. and Chin, C.W.L. and Mazzarotto, F. and Barton, P.J. and Kreuchwig, F. and de Kleijn, D.P.V. and Totman, T. and Biffi, C. and Tee, N. and Rueckert, D. and Schneider, V. and Faber, A. and Regitz-Zagrosek, V. and Seidman, J.G. and Seidman, C.E. and Linke, W.A. and Kovalik, J.P. and O'Regan, D. and Ware, J.S. and Hubner, N. and Cook, S.A.
Nature Genetics 49 (1): 46-53. January 2017


Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Sifrim, A. and Hitz, M.P. and Wilsdon, A. and Breckpot, J. and Turki, S.H.A. and Thienpont, B. and McRae, J. and Fitzgerald, T.W. and Singh, T. and Swaminathan, G.J. and Prigmore, E. and Rajan, D. and Abdul-Khaliq, H. and Banka, S. and Bauer, U.M.M. and Bentham, J. and Berger, F. and Bhattacharya, S. and Bu'Lock, F. and Canham, N. and Colgiu, I.G. and Cosgrove, C. and Cox, H. and Daehnert, I. and Daly, A. and Danesh, J. and Fryer, A. and Gewillig, M. and Hobson, E. and Hoff, K. and Homfray, T. and Kahlert, A.K. and Ketley, A. and Kramer, H.H. and Lachlan, K. and Lampe, A.K. and Louw, J.J. and Manickara, A.K. and Manase, D. and McCarthy, K.P. and Metcalfe, K. and Moore, C. and Newbury-Ecob, R. and Omer, S.O. and Ouwehand, W.H. and Park, S.M. and Parker, M.J. and Pickardt, T. and Pollard, M.O. and Robert, L. and Roberts, D.J. and Sambrook, J. and Setchfield, K. and Stiller, B. and Thornborough, C. and Toka, O. and Watkins, H. and Williams, D. and Wright, M. and Mital, S. and Daubeney, P.E.F. and Keavney, B. and Goodship, J. and Abu-Sulaiman, R.M. and Klaassen, S. and Wright, C.F. and Firth, H.V. and Barrett, J.C. and Devriendt, K. and FitzPatrick, D.R. and Brook, J.D. and Hurles, M.E.
Nature Genetics 48 (9): 1060-1065. 1 August 2016


Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
Paternoster, L. and Standl, M. and Waage, J. and Baurecht, H. and Hotze, M. and Strachan, D.P. and Curtin, J.A. and Bønnelykke, K. and Tian, C. and Takahashi, A. and Esparza-Gordillo, J. and Alves, A.C. and Thyssen, J.P. and den Dekker, H.T. and Ferreira, M.A. and Altmaier, E. and Sleiman, P.M.A. and Xiao, F.L. and Gonzalez, J.R. and Marenholz, I. and Kalb, B. and Pino-Yanes, M. and Xu, C.J. and Carstensen, L. and Groen-Blokhuis, M.M. and Venturini, C. and Pennell, C.E. and Barton, S.J. and Levin, A.M. and Curjuric, I. and Bustamante, M. and Kreiner-Møller, E. and Lockett, G.A. and Bacelis, J. and Bunyavanich, S. and Myers, R.A. and Matanovic, A. and Kumar, A. and Tung, J.Y. and Hirota, T. and Kubo, M. and McArdle, W.L. and Henderson, A.J. and Kemp, J.P. and Zheng, J. and Smith, G.D. and Rüschendorf, F. and Bauerfeind, A. and Lee-Kirsch, M.A. and Arnold, A. and Homuth, G. and Schmidt, C.O. and Mangold, E. and Cichon, S. and Keil, T. and Rodríguez, E. and Peters, A. and Franke, A. and Lieb, W. and Novak, N. and Fölster-Holst, R. and Horikoshi, M. and Pekkanen, J. and Sebert, S. and Husemoen, L.L. and Grarup, N. and de Jongste, J.C. and Rivadeneira, F. and Hofman, A. and Jaddoe, V.W.V. and Pasmans, S.G.M.A. and Elbert, N.J. and Uitterlinden, A.G. and Marks, G.B. and Thompson, P.J. and Matheson, M.C. and Robertson, C.F. and Ried, J.S. and Li, J. and Zuo, X.B. and Zheng, X.D. and Yin, X.Y. and Sun, L.D. and McAleer, M.A. and O'Regan, G.M. and Fahy, C.M.R. and Campbell, L.E. and Macek, M. and Kurek, M. and Hu, D. and Eng, C. and Postma, D.S. and Feenstra, B. and Geller, F. and Hottenga, J.J. and Middeldorp, C.M. and Hysi, P. and Bataille, V. and Spector, T. and Tiesler, C.M.T. and Thiering, E. and Pahukasahasram, B. and Yang, J.J. and Imboden, M. and Huntsman, S. and Vilor-Tejedor, N. and Relton, C.L. and Myhre, R. and Nystad, W. and Custovic, A. and Weiss, S.T. and Meyers, D.A. and Söderhäll, C. and Melén, E. and Ober, C. and Raby, B.A. and Simpson, A. and Jacobsson, B. and Holloway, J.W. and Bisgaard, H. and Sunyer, J. and Probst-Hensch, N.M. and Williams, L.K. and Godfrey, K.M. and Wang, C.A. and Boomsma, D.I. and Melbye, M. and Koppelman, G.H. and Jarvis, D. and McLean, W.H.I. and Irvine, A.D. and Zhang, X.J. and Hakonarson, H. and Gieger, C. and Burchard, E.G. and Martin, N.G. and Duijts, L. and Linneberg, A. and Jarvelin, M.R. and Noethen, M.M. and Lau, S. and Hübner, N. and Lee, Y.A. and Tamari, M. and Hinds, D.A. and Glass, D. and Brown, S.J. and Heinrich, J. and Evans, D.M. and Weidinger, S.
Nature Genetics 47 (12): 1449-1456. December 2015

Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options.
Fischer, U. and Forster, M. and Rinaldi, A. and Risch, T. and Sungalee, S. and Warnatz, H.J. and Bornhauser, B. and Gombert, M. and Kratsch, C. and Stütz, A.M. and Sultan, M. and Tchinda, J. and Worth, C.L. and Amstislavskiy, V. and Badarinarayan, N. and Baruchel, A. and Bartram, T. and Basso, G. and Canpolat, C. and Cario, G. and Cavé, H. and Dakaj, D. and Delorenzi, M. and Dobay, M.P. and Eckert, C. and Ellinghaus, E. and Eugster, S. and Frismantas, V. and Ginzel, S. and Haas, O.A. and Heidenreich, O. and Hemmrich-Stanisak, G. and Hezaveh, K. and Höll, J.I. and Hornhardt, S. and Husemann, P. and Kachroo, P. and Kratz, C.P. and Te Kronnie, G. and Marovca, B. and Niggli, F. and McHardy, A.C. and Moorman, A.V. and Panzer-Grümayer, R. and Petersen, B.S. and Raeder, B. and Ralser, M. and Rosenstiel, P. and Schäfer, D. and Schrappe, M. and Schreiber, S. and Schütte, M. and Stade, B. and Thiele, R. and von der Weid, N. and Vora, A. and Zaliova, M. and Zhang, L. and Zichner, T. and Zimmermann, M. and Lehrach, H. and Borkhardt, A. and Bourquin, J.P. and Franke, A. and Korbel, J.O. and Stanulla, M. and Yaspo, M.L.
Nature Genetics 47 (9): 1020-1029. September 2015

PDE3A mutations cause autosomal dominant hypertension with brachydactyly.
Maass, P.G. and Aydin, A. and Luft, F.C. and Schächterle, C. and Weise, A. and Stricker, S. and Lindschau, C. and Vaegler, M. and Qadri, F. and Toka, H.R. and Schulz, H. and Krawitz, P.M. and Parkhomchuk, D. and Hecht, J. and Hollfinger, I. and Wefeld-Neuenfeld, Y. and Bartels-Klein, E. and Mühl, A. and Kann, M. and Schuster, H. and Chitayat, D. and Bialer, M.G. and Wienker, T.F. and Ott, J. and Rittscher, K. and Liehr, T. and Jordan, J. and Plessis, G. and Tank, J. and Mai, K. and Naraghi, R. and Hodge, R. and Hopp, M. and Hattenbach, L.O. and Busjahn, A. and Rauch, A. and Vandeput, F. and Gong, M. and Rüschendorf, F. and Hübner, N. and Haller, H. and Mundlos, S. and Bilginturan, N. and Movsesian, M.A. and Klussmann, E. and Toka, O. and Bähring, S.
Nature Genetics 47 (6): 647-653. June 2015


Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert, J. and Siekierska, A. and Langlois, M. and May, P. and Huneau, C. and Becker, F. and Muhle, H. and Suls, A. and Lemke, J.R. and de Kovel, C.G.F. and Thiele, H. and Konrad, K. and Kawalia, A. and Toliat, M.R. and Sander, T. and Rueschendorf, F. and Caliebe, A. and Nagel, I. and Kohl, B. and Kecskes, A. and Jacmin, M. and Hardies, K. and Weckhuysen, S. and Riesch, E. and Dorn, T. and Brilstra, E.H. and Baulac, S. and Moller, R.S. and Hjalgrim, H. and Koeleman, B.P.C. and Jurkat-Rott, K. and Lehman-Horn, F. and Roach, J.C. and Glusman, G. and Hood, L. and Galas, D.J. and Martin, B. and de Witte, P.A.M. and Biskup, S. and De Jonghe, P. and Helbig, I. and Balling, R. and Nuernberg, P. and Crawford, A.D. and Esguerra, C.V. and Weber, Y.G. and Lerche, H.
Nature Genetics 46 (12): 1327-1332. December 2014

Human somatic cell mutagenesis creates genetically tractable sarcomas.
Molyneux, S.D. and Waterhouse, P.D. and Shelton, D. and Shao, Y.W. and Watling, C.M. and Tang, Q.L. and Harris, I.S. and Dickson, B.C. and Tharmapalan, P. and Sandve, G.K. and Zhang, X. and Bailey, S.D. and Berman, H. and Wunder, J.S. and Izsvák, Z. and Lupien, M. and Mak, T.W. and Khokha, R.
Nature Genetics 46 (9): 964-972. September 2014


Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

Nature Genetics 45 (11): 1353-1360. November 2013

BMP signaling controls muscle mass.
Sartori, R. and Schirwis, E. and Blaauw, B. and Bortolanza, S. and Zhao, J. and Enzo, E. and Stantzou, A. and Mouisel, E. and Toniolo, L. and Ferry, A. and Stricker, S. and Goldberg, A.L. and Dupont, S. and Piccolo, S. and Amthor, H. and Sandri, M.
Nature Genetics 45 (11): 1309-1318. November 2013

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.
Jones, D.T.W. and Hutter, B. and Jäger, N. and Korshunov, A. and Kool, M. and Warnatz, H.J. and Zichner, T. and Lambert, S.R. and Ryzhova, M. and Quang, D.A.K. and Fontebasso, A.M. and Stütz, A.M. and Hutter, S. and Zuckermann, M. and Sturm, D. and Gronych, J. and Lasitschka, B. and Schmidt, S. and Seker-Cin, H. and Witt, H. and Sultan, M. and Ralser, M. and Northcott, P.A. and Hovestadt, V. and Bender, S. and Pfaff, E. and Stark, S. and Faury, D. and Schwartzentruber, J. and Majewski, J. and Weber, U.D. and Zapatka, M. and Raeder, B. and Schlesner, M. and Worth, C.L. and Bartholomae, C.C. and von Kalle, C. and Imbusch, C.D. and Radomski, S. and Lawerenz, C. and van Sluis, P. and Koster, J. and Volckmann, R. and Versteeg, R. and Lehrach, H. and Monoranu, C. and Winkler, B. and Unterberg, A. and Herold-Mende, C. and Milde, T. and Kulozik, A.E. and Ebinger, M. and Schuhmann, M.U. and Cho, Y.J. and Pomeroy, S.L. and von Deimling, A. and Witt, O. and Taylor, M.D. and Wolf, S. and Karajannis, M.A. and Eberhart, C.G. and Scheurlen, W. and Hasselblatt, M. and Ligon, K.L. and Kieran, M.W. and Korbel, J.O. and Yaspo, M.L. and Brors, B. and Felsberg, J. and Reifenberger, G. and Collins, V.P. and Jabado, N. and Eils, R. and Lichter, P. and Pfister, S.M.
Nature Genetics 45 (8): 927-932. August 2013

Combined sequence-based and genetic mapping analysis of complex traits in outbred rats.
Baud, A. and Hermsen, R. and Guryev, V. and Stridh, P. and Graham, D. and McBride, M.W. and Foroud, T. and Calderari, S. and Diez, M. and Ockinger, J. and Beyeen, A.D. and Gillett, A. and Abdelmagid, N. and Guerreiro-Cacais, A.O. and Jagodic, M. and Tuncel, J. and Norin, U. and Beattie, E. and Huynh, N. and Miller, W.H. and Koller, D.L. and Alam, I. and Falak, S. and Osborne-Pellegrin, M. and Martinez-Membrives, E. and Canete, T. and Blazquez, G. and Vicens-Costa, E. and Mont-Cardona, C. and Diaz-Moran, S. and Tobena, A. and Hummel, O. and Zelenika, D. and Saar, K. and Patone, G. and Bauerfeind, A. and Bihoreau, M.T. and Heinig, M. and Lee, Y.A. and Rintisch, C. and Schulz, H. and Wheeler, D.A. and Worley, K.C. and Muzny, D.M. and Gibbs, R.A. and Lathrop, M. and Lansu, N. and Toonen, P. and Ruzius, F.P. and de Bruijn, E. and Hauser, H. and Adams, D.J. and Keane, T. and Atanur, S.S. and Aitman, T.J. and Flicek, P. and Malinauskas, T. and Jones, E.Y. and Ekman, D. and Lopez-Aumatell, R. and Dominiczak, A.F. and Johannesson, M. and Holmdahl, R. and Olsson, T. and Gauguier, D. and Hubner, N. and Fernandez-Teruel, A. and Cuppen, E. and Mott, R. and Flint, J.
Nature Genetics 45 (7): 767-775. July 2013

High-density genotyping study identifies four new susceptibility loci for atopic dermatitis.
Ellinghaus, D. and Baurecht, H. and Esparza-Gordillo, J. and Rodríguez, E. and Matanovic, A. and Marenholz, I. and Hübner, N. and Schaarschmidt, H. and Novak, N. and Michel, S. and Maintz, L. and Werfel, T. and Meyer-Hoffert, U. and Hotze, M. and Prokisch, H. and Heim, K. and Herder, C. and Hirota, T. and Tamari, M. and Kubo, M. and Takahashi, A. and Nakamura, Y. and Tsoi, L.C. and Stuart, P. and Elder, J.T. and Sun, L. and Zuo, X. and Yang, S. and Zhang, X. and Hoffmann, P. and Nöthen, M.M. and Fölster-Holst, R. and Winkelmann, J. and Illig, T. and Boehm, B.O. and Duerr, R.H. and Büning, C. and Brandt, S. and Glas, J. and McAleer, M.A. and Fahy, C.M. and Kabesch, M. and Brown, S. and McLean, W.H.I. and Irvine, A.D. and Schreiber, S. and Lee, Y.A. and Franke, A. and Weidinger, S.
Nature Genetics 45 (7): 808-812. July 2013

FaST-LMM-Select for addressing confounding from spatial structure and rare variants.
Listgarten, J. and Lippert, C. and Heckerman, D.
Nature Genetics 45 (5): 470-471. May 2013


Tissue-specific analysis of chromatin state identifies temporal signatures of enhancer activity during embryonic development.
Bonn, S. and Zinzen, R.P. and Girardot, C. and Gustafson, E.H. and Perez-Gonzalez, A. and Delhomme, N. and Ghavi-Helm, Y. and Wilczynski, B. and Riddell, A. and Furlong, E.E.
Nature Genetics 44 (2): 148-156. February 2012


Whole-genome sequencing of multiple Arabidopsis thaliana populations.
Cao, J. and Schneeberger, K. and Ossowski, S. and Guenther, T. and Bender, S. and Fitz, J. and Koenig, D. and Lanz, C. and Stegle, O. and Lippert, C. and Wang, X. and Ott, F. and Mueller, J. and Alonso-Blanco, C. and Borgwardt, K. and Schmid, K.J. and Weigel, D.
Nature Genetics 43 (10): 956-963. 28 August 2011


No evidence for a role of CLCN2 variants in idiopathic generalized epilepsy.
Niemeyer, M.I. and Cid, L.P. and Sepulveda, F.V. and Blanz, J. and Auberson, M. and Jentsch, T.J.
Nature Genetics 42 (1): 3. January 2010


Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis.
Lu, B.C. and Cebrian, C. and Chi, X. and Kuure, S. and Kuo, R. and Bates, C.M. and Arber, S. and Hassell, J. and Macneil, L. and Hoshi, M. and Jain, S. and Asai, N. and Takahashi, M. and Schmidt-Ott, K.M. and Barasch, J. and D'Agati, V. and Costantini, F.
Nature Genetics 41 (12): 1295-1302. December 2009

DNA methylation protects hematopoietic stem cell multipotency from myeloerythroid restriction.
Broeske, A.M. and Vockentanz, L. and Kharazi, S. and Huska, M.R. and Mancini, E. and Scheller, M. and Kuhl, C. and Enns, A. and Prinz, M. and Jaenisch, R. and Nerlov, C. and Leutz, A. and Andrade-Navarro, M.A. and Jacobsen, S.E. and Rosenbauer, F.
Nature Genetics 41 (11): 1207-1215. November 2009

CLCN2 variants in idiopathic generalized epilepsy.
Kleefuss-Lie, A. and Friedl, W. and Cichon, S. and Haug, K. and Warnstedt, M. and Alekov, A. and Sander, T. and Ramirez, A. and Poser, B. and Maljevic, S. and Hebeisen, S. and Kubisch, C. and Rebstock, J. and Horvath, S. and Hallmann, K. and Dullinger, J.S. and Rau, B. and Haverkamp, F. and Beyenburg, S. and Schulz, H. and Janz, D. and Giese, B. and Muller-Newen, G. and Propping, P. and Elger, C.E. and Fahlke, C. and Lerche, H.
Nature Genetics 41 (9): 954-955. September 2009

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Henneke, M. and Diekmann, S. and Ohlenbusch, A. and Kaiser, J. and Engelbrecht, V. and Kohlschuetter, A. and Kraetzner, R. and Madruga-Garrido, M. and Mayer, M. and Opitz, L. and Rodriguez, D. and Rueschendorf, F. and Schumacher, J. and Thiele, H. and Thoms, S. and Steinfeld, R. and Nuernberg, P. and Gaertner, J.
Nature Genetics 41 (7): 773-775. July 2009

Molecular evolution of a novel hyperactive Sleeping Beauty transposase enables robust stable gene transfer in vertebrates.
Mates, L. and Chuah, M.K. and Belay, E. and Jerchow, B. and Manoj, N. and Acosta-Sanchez, A. and Grzela, D.P. and Schmitt, A. and Becker, K. and Matrai, J. and Ma, L. and Samara-Kuko, E. and Gysemans, C. and Pryputniewicz, D. and Miskey, C. and Fletcher, B. and Vandendriessche, T. and Ivics, Z. and Izsvak, Z.
Nature Genetics 41 (6): 753-761. June 2009

A common variant on chromosome 11q13 is associated with atopic dermatitis.
Esparza-Gordillo, J. and Weidinger, S. and Foelster-Holst, R. and Bauerfeind, A. and Rueschendorf, F. and Patone, G. and Rohde, K. and Marenholz, I. and Schulz, F. and Kerscher, T. and Huebner, N. and Wahn, U. and Schreiber, S. and Franke, A. and Vogler, R. and Heath, S. and Baurecht, H. and Novak, N. and Rodriguez, E. and Illig, T. and Lee-Kirsch, M.A. and Ciechanowicz, A. and Kurek, M. and Piskackova, T. and Macek, M. and Lee, Y.A. and Ruether, A.
Nature Genetics 41 (5): 596-601. May 2009

The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.
Suzuki, H and Forrest, ARR and van Nimwegen, E and Daub, CO and Balwierz, PJ and Irvine, KM and Lassmann, T and Ravasi, T and Hasegawa, Y and de Hoon, MJL and Katayama, S and Schroder, K and Carninci, P and Tomaru, Y and Kanamori-Katayama, M and Kubosaki, A and Akalin, A. and Ando, Y and Arner, E and Asada, M and Asahara, H and Bailey, T and Bajic, VB and Bauer, D and Beckhouse, AG and Bertin, N and Björkegren, J and Brombacher, F and Bulger, E and Chalk, AM and Chiba, J and Cloonan, N and Dawe, A and Dostie, J and Engstroem, PG and Essack, M and Faulkner, GJ and Fink, JL and Fredman, D and Fujimori, K and Furuno, M and Gojobori, T and Gough, J and Grimmond, SM and Gustafsson, M and Hashimoto, M and Hashimoto, T and Hatakeyama, M and Heinzel, S and Hide, W and Hofmann, O and Hörnquist, M and Huminiecki, L and Ikeo, K and Imamoto, N and Inoue, S and Inoue, Y and Ishihara, R and Iwayanagi, T and Jacobsen, A and Kaur, M and Kawaji, H and Kerr, MC and Kimura, R and Kimura, S and Kimura, Y and Kitano, H and Koga, H and Kojima, T and Kondo, S and Konno, T and Krogh, A and Kruger, A and Kumar, A and Lenhard, B and Lennartsson, A and Lindow, M and Lizio, M and Macpherson, C and Maeda, N and Maher, CA and Maqungo, M and Mar, J and Matigian, NA and Matsuda, H and Mattick, JS and Meier, S and Miyamoto, S and Miyamoto-Sato, E and Nakabayashi, K and Nakachi, Y and Nakano, M and Nygaard, S and Okayama, T and Okazaki, Y and Okuda-Yabukami, H and Orlando, V and Otomo, J and Pachkov, M and Petrovsky, N and Plessy, C and Quackenbush, J and Radovanovic, A and Rehli, M and Saito, R and Sandelin, A and Schmeier, S and Schönbach, C and Schwartz, AS and Semple, CA and Sera, M and Severin, J and Shirahige, K and Simons, C and St Laurent, G and Suzuki, M and Suzuki, T and Sweet, MJ and Taft, RJ and Takeda, S and Takenaka, Y and Tan, K and Taylor, MS and Teasdale, RD and Tegnér, J and Teichmann, S and Valen, E and Wahlestedt, C and Waki, K and Waterhouse, A and Wells, CA and Winther, O and Wu, L and Yamaguchi, K and Yanagawa, H and Yasuda, J and Zavolan, M and Hume, DA and Arakawa, T and Fukuda, S and Imamura, K and Kai, C and Kaiho, A and Kawashima, T and Kawazu, C and Kitazume, Y and Kojima, M and Miura, H and Murakami, K and Murata, M and Ninomiya, N and Nishiyori, H and Noma, S and Ogawa, C and Sano, T and Simon, C and Tagami, M and Takahashi, Y and Kawai, J and Hayashizaki, Y
Nature Genetics 41 (5): 553-562. May 2009

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig, I. and Mefford, H.C. and Sharp, A.J. and Guipponi, M. and Fichera, M. and Franke, A. and Muhle, H. and de Kovel, C. and Baker, C. and von Spiczak, S. and Kron, K.L. and Steinich, I. and Kleefuss-Lie, A.A. and Leu, C. and Gaus, V. and Schmitz, B. and Klein, K.M. and Reif, P.S. and Rosenow, F. and Weber, Y. and Lerche, H. and Zimprich, F. and Urak, L. and Fuchs, K. and Feucht, M. and Genton, P. and Thomas, P. and Visscher, F. and de Haan, G.J. and Moller, R.S. and Hjalgrim, H. and Luciano, D. and Wittig, M. and Nothnagel, M. and Elger, C.E. and Nuernberg, P. and Romano, C. and Malafosse, A. and Koeleman, B.P.C. and Lindhout, D. and Stephani, U. and Schreiber, S. and Eichler, E.E. and Sander, T.
Nature Genetics 41 (2): 160-162. February 2009


The Pristionchus pacificus genome provides a unique perspective on nematode lifestyle and parasitism.
Dieterich, C. and Clifton, S.W. and Schuster, L.N. and Chinwalla, A. and Delehaunty, K. and Dinkelacker, I. and Fulton, L. and Fulton, R. and Godfrey, J. and Minx, P. and Mitreva, M. and Roeseler, W. and Tian, H. and Witte, H. and Yang, S.P. and Wilson, R.K. and Sommer, R.J.
Nature Genetics 40 (10): 1193-1198. October 2008

Identification of renal Cd36 as a determinant of blood pressure and risk for hypertension.
Pravenec, M. and Churchill, P.C. and Churchill, M.C. and Viklicky, O. and Kazdova, L. and Aitman, T.J. and Petretto, E. and Huebner, N. and Wallace, C.A. and Zimdahl, H. and Zidek, V. and Landa, V. and Dunbar, J. and Bidani, A. and Griffin, K. and Qi, N. and Maxova, M. and Kren, V. and Mlejnek, P. and Wang, J. and Kurtz, T.W.
Nature Genetics 40 (8): 952-954. August 2008

Progress and prospects in rat genetics: a community view.
Aitman, T.J. and Critser, J.K. and Cuppen, E. and Dominiczak, A. and Fernandez-Suarez, X.M. and Flint, J. and Gauguier, D. and Geurts, A.M. and Gould, M. and Harris, P.C. and Holmdahl, R. and Huebner, N. and Izsvak, Z. and Jacob, H.J. and Kuramoto, T. and Kwitek, A.E. and Marrone, A. and Mashimo, T. and Moreno, C. and Mullins, J. and Mullins, L. and Olsson, T. and Pravenec, M. and Riley, L. and Saar, K. and Serikawa, T. and Shull, J.D. and Szpirer, C. and Twigger, S.N. and Voigt, B. and Worley, K.C.
Nature Genetics 40 (5): 516-22. May 2008

Distribution and functional impact of DNA copy number variation in the rat.
Guryev, V. and Saar, K. and Adamovic, T. and Verheul, M. and van Heesch, S. and Cook, S. and Pravenec, M. and Aitman, T. and Jacob, H. and Shull, J.D. and Huebner, N. and Cuppen, E.
Nature Genetics 40 (5): 538-545. May 2008

Soluble epoxide hydrolase is a susceptibility factor for heart failure in a rat model of human disease.
Monti, J. and Fischer, J. and Paskas, S. and Heinig, M. and Schulz, H. and Goesele, C. and Heuser, A. and Fischer, R. and Schmidt, C. and Schirdewan, A. and Gross, V. and Hummel, O. and Maatz, H. and Patone, G. and Saar, K. and Vingron, M. and Weldon, S.M. and Lindpaintner, K. and Hammock, B.D. and Rohde, K. and Dietz, R. and Cook, S.A. and Schunck, W.H. and Luft, F.C. and Huebner, N.
Nature Genetics 40 (5): 529-537. May 2008

Integrated genomic approaches implicate osteoglycin (Ogn) in the regulation of left ventricular mass.
Petretto, E. and Sarwar, R. and Grieve, I. and Lu, H. and Kumaran, M.K. and Muckett, P.J. and Mangion, J. and Schroen, B. and Benson, M. and Punjabi, P.P. and Prasad, S.K. and Pennell, D.J. and Kiesewetter, C. and Tasheva, E.S. and Corpuz, L.M. and Webb, M.D. and Conrad, G.W. and Kurtz, T.W. and Kren, V. and Fischer, J. and Huebner, N. and Pinto, Y.M. and Pravenec, M. and Aitman, T.J. and Cook, S.A.
Nature Genetics 40 (5): 546-552. May 2008

SNP and haplotype mapping for genetic analysis in the rat.
Saar, K. and Beck, A. and Bihoreau, M.T. and Birney, E. and Brocklebank, D. and Chen, Y. and Cuppen, E. and Demonchy, S. and Dopazo, J. and Flicek, P. and Foglio, M. and Fujiyama, A. and Gut, I.G. and Gauguier, D. and Guigo, R. and Guryev, V. and Heinig, M. and Hummel, O. and Jahn, N. and Klages, S. and Kren, V. and Kube, M. and Kuhl, H. and Kuramoto, T. and Kuroki, Y. and Lechner, D. and Lee, Y.A. and Lopez-Bigas, N. and Lathrop, G.M. and Mashimo, T. and Medina, I. and Mott, R. and Patone, G. and Perrier-Cornet, J.A. and Platzer, M. and Pravenec, M. and Reinhardt, R. and Sakaki, Y. and Schilhabel, M. and Schulz, H. and Serikawa, T. and Shikhagaie, M. and Tatsumoto, S. and Taudien, S. and Toyoda, A. and Voigt, B. and Zelenika, D. and Zimdahl, H. and Huebner, N.
Nature Genetics 40 (5): 560-566. May 2008

G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth.
Pasternack, S.M. and von Kuegelgen, I. and Aboud, K.A. and Lee, Y.A. and Rueschendorf, F. and Voss, K. and Hillmer, A.M. and Molderings, G.J. and Franz, T. and Ramirez, A. and Nuernberg, P. and Noethen, M.M. and Betz, R.C.
Nature Genetics 40 (3): 329-334. March 2008


Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.
Lee-Kirsch, M.A. and Gong, M. and Chowdhury, D. and Senenko, L. and Engel, K. and Lee, Y.A. and de Silva, U. and Bailey, S.L. and Witte, T. and Vyse, T.J. and Kere, J. and Pfeiffer, C. and Harvey, S. and Wong, A. and Koskenmies, S. and Hummel, O. and Rohde, K. and Schmidt, R.E. and Dominiczak, A.F. and Gahr, M. and Hollis, T. and Perrino, F.W. and Lieberman, J. and Huebner, N.
Nature Genetics 39 (9): 1065-1067. September 2007

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.
Rogaeva, E. and Meng, Y. and Lee, J.H. and Gu, Y. and Kawarai, T. and Zou, F. and Katayama, T. and Baldwin, C.T. and Cheng, R. and Hasegawa, H. and Chen, F. and Shibata, N. and Lunetta, K.L. and Pardossi-Piquard, R. and Bohm, C. and Wakutani, Y. and Cupples, L.A. and Cuenco, K.T. and Green, R.C. and Pinessi, L. and Rainero, I. and Sorbi, S. and Bruni, A. and Duara, R. and Friedland, R.P. and Inzelberg, R. and Hampe, W. and Bujo, H. and Song, Y.Q. and Andersen, O.M. and Willnow, T.E. and Graff-Radford, N. and Petersen, R.C. and Dickson, D. and Der, S.D. and Fraser, P.E. and Schmitt-Ulms, G. and Younkin, S. and Mayeux, R. and Farrer, L.A. and St George-Hyslop, P.
Nature Genetics 39 (2): 168-177. February 2007


Natural selection on human microRNA binding sites inferred from SNP data.
Chen, K. and Rajewsky, N.
Nature Genetics 38 (12): 1452-1456. 1 December 2006

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Hinkes, B. and Wiggins, R.C. and Gbadegesin, R. and Vlangos, C.N. and Seelow, D. and Nuernberg, G. and Garg, P. and Verma, R. and Chaib, H. and Hoskins, B.E. and Ashraf, S. and Becker, C. and Hennies, H.C. and Goyal, M. and Wharram, B.L. and Schachter, A.D. and Mudumana, S. and Drummond, I. and Kerjaschki, D. and Waldherr, R. and Dietrich, A. and Ozaltin, F. and Bakkaloglu, A. and Cleper, R. and Basel-Vanagaite, L. and Pohl, M. and Griebel, M. and Tsygin, A.N. and Soylu, A. and Mueller, D. and Sorli, C.S. and Bunney, T.D. and Katan, M. and Liu, J. and Attanasio, M. and O'Toole, J.F. and Hasselbacher, K. and Mucha, B. and Otto, E.A. and Airik, R. and Kispert, A. and Kelley, G.G. and Smrcka, A.V. and Gudermann, T. and Holzman, L.B. and Nuernberg, P. and Hildebrandt, F.
Nature Genetics 38 (12): 1397-1405. December 2006

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
Blaydon, D.C. and Ishii, Y. and O'Toole, E.A. and Unsworth, H.C. and Teh, M.T. and Rueschendorf, F. and Sinclair, C. and Hopsu-Havu, V.K. and Tidman, N. and Moss, C. and Watson, R. and de Berker, D. and Wajid, M. and Christiano, A.M. and Kelsell, D.P.
Nature Genetics 38 (11): 1245-1247. November 2006

Essential role of Jun family transcription factors in PU.1 knockdown-induced leukemic stem cells.
Steidl, U. and Rosenbauer, F. and Verhaak, R.G.W. and Gu, X. and Ebralidze, A. and Otu, H.H. and Klippel, S. and Steidl, C. and Bruns, I. and Costa, D.B. and Wagner, K. and Aivado, M. and Kobbe, G. and Valk, P.J.M. and Passegue, E. and Libermann, T.A. and Delwel, R. and Tenen, D.G.
Nature Genetics 38 (11): 1269-1277. November 2006

Reply to "Normalization procedures and detection of linkage signal in genetical-genomics experiments".
Petretto, E. and Mangion, J. and Cook, S.A. and Aitman, T.J. and Pravenec, M. and Schulz, H. and Fischer, J. and Huebner, N.
Nature Genetics 38 (8): 858-859. August 2006

microRNA target predictions in animals.
Rajewsky, N.
Nature Genetics 38 (Suppl.): S8-S13. June 2006

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Sayer, J.A. and Otto, E.A. and O'toole, J.F. and Nuernberg, G. and Kennedy, M.A. and Becker, C. and Hennies, H.C. and Helou, J. and Attanasio, M. and Fausett, B.V. and Utsch, B. and Khanna, H. and Liu, Y. and Drummond, I. and Kawakami, I. and Kusakabe, T. and Tsuda, M. and Ma, L. and Lee, H. and Larson, R.G. and Allen, S.J. and Wilkinson, C.J. and Nigg, E.A. and Shou, C. and Lillo, C. and Williams, D.S. and Hoppe, B. and Kemper, M.J. and Neuhaus, T. and Parisi, M.A. and Glass, I.A. and Petry, M. and Kispert, A. and Gloy, J. and Ganner, A. and Walz, G. and Zhu, X. and Goldman, D. and Nuernberg, P. and Swaroop, A. and Leroux, M.R. and Hildebrandt, F.
Nature Genetics 38 : 674-681. June 2006

A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
Witt, H. and Sahin-Toth, M. and Landt, O. and Chen, J.M. and Kaehne, T. and Drenth, J.P. and Kukor, Z. and Szepessy, E. and Halangk, W. and Dahm, S. and Rohde, K. and Schulz, H.U. and Le Marechal, C. and Akar, N. and Ammann, R.W. and Truninger, K. and Bargetzi, M. and Bhatia, E. and Castellani, C. and Cavestro, G.M. and Cerny, M. and Destro-Bisol, G. and Spedini, G. and Eiberg, H. and Jansen, J.B. and Koudova, M. and Rausova, E. and Macek, M. and Malats, N. and Real, F.X. and Menzel, H.J. and Moral, P. and Galavotti, R. and Pignatti, P.F. and Rickards, O. and Spicak, J. and Zarnescu, N.O. and Boeck, W. and Gress, T.M. and Friess, H. and Ockenga, J. and Schmidt, H. and Pfuetzer, R. and Loehr, M. and Simon, P. and Weiss, F.U. and Lerch, M.M. and Teich, N. and Keim, V. and Berg, T. and Wiedenmann, B. and Luck, W. and Groneberg, D.A. and Becker, M. and Keil, T. and Kage, A. and Bernardova, J. and Braun, M. and Gueldner, C. and Halangk, J. and Rosendahl, J. and Witt, U. and Treiber, M. and Nickel, R. and Ferec, C.
Nature Genetics 38 (6): 668-673. June 2006

Mutations in different components of FGF signaling in LADD syndrome [Erratum in: Nat Genet. vol 38, pg 495, 2006].
Rohmann, E. and Brunner, H.G. and Kayserili, H. and Uyguner, O. and Nuernberg, G. and Lew, E.D. and Dobbie, A. and Eswarakumar, V.P. and Uzumcu, A. and Ulubil-Emeroglu, M. and Leroy, J.G. and Li, Y. and Becker, C. and Lehnerdt, K. and Cremers, C.W. and Yueksel-Apak, M. and Nuernberg, P. and Kubisch, C. and Schlessinger, J. and van Bokhoven, H. and Wollnik, B.
Nature Genetics 38 : 414-417. April 2006

Expressing physiology.
Huebner, N.
Nature Genetics 38 (2): 140-141. February 2006

Lymphoid cell growth and transformation are suppressed by a key regulatory element of the gene encoding PU.1.
Rosenbauer, F. and Owens, B.M. and Yu, L. and Tumang, J.R. and Steidl, U. and Kutok, J.L. and Clayton, L.K. and Wagner, K. and Scheller, M. and Iwasaki, H. and Liu, C. and Hackanson, B. and Akashi, K. and Leutz, A. and Rothstein, T.L. and Plass, C. and Tenen, D.G.
Nature Genetics 38 (1): 27-37. January 2006


Combinatorial microRNA target predictions.
Krek, A. and Gruen, D. and Poy, M.N. and Wolf, R. and Rosenberg, L. and Epstein, E.J. and MacMenamin, P. and da Piedade, I. and Gunsalus, K.C. and Stoffel, M. and Rajewsky, N.
Nature Genetics 37 (5): 495-500. May 2005

Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease.
Huebner, N. and Wallace, C.A. and Zimdahl, H. and Petretto, E. and Schulz, H. and Maciver, F. and Mueller, M. and Hummel, O. and Monti, J. and Zidek, V. and Musilova, A. and Kren, V. and Causton, H. and Game, L. and Born, G. and Schmidt, S. and Mueller, A. and Cook, S.A. and Kurtz, T.W. and Whittaker, J. and Pravenec, M. and Aitman, T.J.
Nature Genetics 37 (3): 243-253. 1 March 2005

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
Metherell, L.A. and Chapple, J.P. and Cooray, S. and David, A. and Becker, C. and Rueschendorf, F. and Naville, D. and Begeot, M. and Khoo, B. and Nuernberg, P. and Huebner, A. and Cheetham, M.E. and Clark, A.J.L.
Nature Genetics 37 (2): 166-170. 1 January 2005


Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Gerull, B. and Heuser, A. and Wichter, T. and Paul, M. and Basson, C.T. and McDermott, D.A. and Lerman, B.B. and Markowitz, S.M. and Ellinor, P.T. and MacRae, C.A. and Peters, S. and Grossmann, K.S. and Drenckhahn, J. and Michely, B. and Sasse-Klaassen, S. and Birchmeier, W. and Dietz, R. and Breithardt, G. and Schulze-Bahr, E. and Thierfelder, L.
Nature Genetics 36 (11): 1162-1164. November 2004

Acute myeloid leukemia induced by graded reduction of a lineage-specific transcription factor, PU.1.
Rosenbauer, F. and Wagner, K. and Kutok, J.L. and Iwasaki, H. and Le Beau, M.M. and Okuno, Y. and Akashi, K. and Fiering, S. and Tenen, D.G.
Nature Genetics 36 : 624-630. 1 June 2004

The Collaborative Cross, a community resource for the genetic analysis of complex traits.
Churchill, G. and Airey, D.C. and Allayee, H. and Angel, J.M. and Attie, A.D. and Beatty, J. and Beavis, W.D. and Belknap, J.K. and Bennett, B. and Berrettini, W. and Bleich, A. and Bogue, M. and Broman, K.W. and Buck, K.J. and Buckler, E. and Burmeister, M. and Chesler, E.J. and Cheverud, J.M. and Clapcote, S. and Cook, M.N. and Cox, R.D. and Crabbe, J.C. and Crusio, W.E. and Darvasi, A. and Deschnepper, C.F. and Doerge, R.W. and Farber, C.R. and Forejt, J. and Gaile, D. and Garlow, S.J. and Geiger, H. and Gershenfeld, H. and Gordon, T. and Gu, J. and Gu, W.K. and de Haan, G. and Hayes, N.L. and Heller, C. and Himmelbauer, H. and Hitzemann, R. and Hunter, K. and Hsu, H.C. and Iraqi, F.A. and Ivandic, B. and Jacob, H.J. and Jansen, R.C. and Jjepsen, K.J. and Johnson, D.K. and Johnson, T.E. and Kempermann, G. and Kendziorski, C. and Kotb, M. and Kooy, R.F. and Llamas, B. and Lammert, F. and Lassalle, J.M. and Lowenstein, P.R. and Lu, L. and Lusiss, A. and Manly, K.F. and Marcucio, R. and Matthews, D. and Medrano, J.F. and Miller, D.R. and Mittleman, G. and Mock, B.A. and Mogil, J.S. and Montagutelli, X. and Morahan, G. and Morris, D.G. and Mott, R. and Nadeau, J.H. and Nagase, H. and Nowakowski, R.S. and O'Hara, B.F. and Osadchuk, A.V. and Page, G.P. and Paigen, B. and Paigen, K. and Palmer, A.A. and Pan, H.J. and Peltonen-Palotie, L. and Peirce, J. and Pomp, D. and Pravenec, M. and Prows, D.R. and Qi, Z.H. and Reeves, R.H. and Roder, J. and Rosen, G.D. and Schadt, E.E. and Schalkwyk, L.C. and Seltzer, Z. and Shimomura, K. and Shou, S.M. and Sillanpaeae, M.J. and Siracusa, L.D. and Snoeck, H.W. and Spearow, J.L. and Svenson, K. and Tarantino, L.M. and Threadgill, D. and Toth, L.A. and Valdar, W. and de Villena, F.P.M. and Warden, C. and Whatley, S. and Williams, R.W. and Wiltshire, T. and Yi, N.J. and Zhang, D.B. and Zhang, M. and Zou, F.
Nature Genetics 36 : 1133-1137. 1 January 2004

Estimating rates of alternative splicing in mammals and invertebrates.
Harrington, E.D. and Boue, S. and Valcarcel, J. and Reich, J.G. and Bork, P.
Nature Genetics 36 (9): 916-917. 1 January 2004

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Janecke, A.R. and Thompson, D.A. and Utermann, G. and Becker, C. and Huebner, C.A. and Schmid, E. and McHenry, C.L. and Nair, A.R. and Rueschendorf, F. and Heckenlively, J. and Wissinger, B. and Nuernberg, P. and Gal, A.
Nature Genetics 36 (8): 850-854. 1 January 2004


Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Haug, K. and Warnstedt, M. and Alekov, A.K. and Sander, T. and Ramirez, A. and Poser, B. and Maljevic, S. and Hebeisen, S. and Kubisch, C. and Rebstock, J. and Horvath, S. and Hallmann, K. and Dullinger, J.S. and Rau, B. and Haverkamp, F. and Beyenburg, S. and Schulz, H. and Janz, D. and Giese, B. and Mueller-Newen, G. and Propping, P. and Elger, C.E. and Fahlke, C. and Lerche, H. and Heils, A.
Nature Genetics 33 : 527-532. 1 April 2003

Bioinformatics in the post-sequence era.
Kanehisa, M. and Bork, P.
Nature Genetics 33 : 305-310. 1 January 2003

Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Rutsch, F. and Ruf, N. and Vaingankar, S. and Toliat, M.R. and Suk, A. and Hoehne, W. and Schauer, G. and Lehmann, M. and Roscioli, T. and Schnabel, D. and Epplen, J.T. and Knisely, A. and Superti-Furga, A. and McGill, J. and Filippone, M. and Sinaiko, A.R. and Vallance, H. and Hinrichs, B. and Smith, W. and Ferre, M. and Terkeltaub, R. and Nuernberg, P.
Nature Genetics 34 (4): 379-381. 1 January 2003


SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.
Patel, H. and Cross, H. and Proukakis, C. and Hershberger, R. and Bork, P. and Ciccarelli, F.D. and Patton, M.A. and McKusick, V.A. and Crosby, A.H.
Nature Genetics 31 : 347-348. 1 August 2002

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly).
Hoffmann, K. and Dreger, C.K. and Olins, A.L. and Olins, D.E. and Shultz, L.D. and Lucke, B. and Karl, H. and Kaps, R. and Mueller, D. and Vaya, A. and Aznar, J. and Ware, R.E. and Cruz, N.S. and Lindner, T.H. and Herrmann, H. and Reis, A. and Sperling, K.
Nature Genetics 31 (4): 410-414. August 2002

Association of genes to genetically inherited diseases using data mining.
Perez-Iratxeta, C. and Bork, P. and Andrade, M.A.
Nature Genetics 31 (3): 316-319. July 2002

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Gerull, B. and Gramlich, M. and Atherton, J. and McNabb, M. and Trombitas, K. and Sasse-Klaassen, S. and Seidman, J.G. and Seidman, C. and Granzier, H. and Labeit, S. and Frenneaux, M. and Thierfelder, L.
Nature Genetics 30 (2): 201-204. February 2002

Alternative splicing and genome complexity.
Brett, D. and Pospisil, H. and Valcarel, J. and Reich, J. and Bork, P.
Nature Genetics 30 (1): 29-30. 1 January 2002

A comprehensive linkage analysis for myocardial infarction and its related risk factors.
Broeckel, U. and Hengstenberg, C. and Mayer, B. and Holmer, S. and Martin, L.J. and Comuzzie, A.G. and Blangero, J. and Nuernberg, P. and Reis, A. and Riegger, G.A.J. and Jacob, H.J. and Schunkert, H.
Nature Genetics 30 : 210-214. 1 January 2002


Sox9 induces testis development in XX transgenic mice.
Vidal, V.P.I. and Chaboissier, M.C. and de Rooij, D.G. and Schedl, A.
Nature Genetics 28 (3): 216-217. 1 July 2001

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
Betz, R.C. and Schoser, B.G.H. and Kasper, D. and Ricker, K. and Ramirez, A. and Stein, V. and Torbergsen, T. and Lee, Y.A. and Nothen, M.M. and Wienker, T.F. and Malin, J.P. and Propping, P. and Reis, A. and Mortier, W. and Jentsch, T.J. and Vorgerd, M. and Kubisch, C.
Nature Genetics 28 (3): 218-219. July 2001

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1.
Grohmann, K. and Schuelke, M. and Diers, A. and Hoffmann, K. and Lucke, B. and Adams, C. and Bertini, E. and Leonhardt-Horti, H. and Muntoni, F. and Ouvrier, R. and Pfeufer, A. and Rossi, R. and Van Maldergem, L. and Wilmshurst, J.M. and Wienker, T.R. and Sendtner, M. and Rudnik-Schoeneborn, S. and Zerres, K. and Huebner, C.
Nature Genetics 29 (1): 75-77. 1 January 2001

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
Nuernberg, P. and Thiele, H. and Chandler, D. and Hoehne, W. and Cunningham, M.L. and Ritter, H. and Leschik, G. and Uhlmann, K. and Mischung, C. and Harrop, K. and Goldblatt, J. and Borochowitz, Z.U. and Kotzot, D. and Westermann, F. and Mundlos, S. and Braun, H.S. and Laing, N. and Tinschert, S.
Nature Genetics 28 (1): 37-41. 1 January 2001


A region on chromosome 3 is linked to dizygotic twinning.
Busjahn, A. and Knoblauch, H. and Faulhaber, H.D. and Aydin, A. and Uhlmann, R. and Tuomilehto, J. and Kaprio, J. and Jedrusik, P. and Januszewicz, A. and Strelau, J. and Schuster, H. and Luft, F.C. and Mueller-Myhsok, B.
Nature Genetics 26 (4): 398-399. 1 December 2000

A major susceptibility locus for atopic dermatitis maps to chromosome 3q21.
Lee, Y.A. and Wahn, U. and Kehrt, R. and Tarani, L. and Businco, L. and Gustafsson, D. and Andersson, F. and Oranje, A.P. and Wolkertstorfer, A. and von Berg, A. and Hoffmann, U. and Kuester, W. and Wienker, T.F. and Rueschendorf, F. and Reis, A.
Nature Genetics 26 : 470-473. 1 December 2000

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
Alexander, C. and Votruba, M. and Pesch, U.E. and Thiselton, D.L. and Mayer, S. and Moore, A. and Rodriguez, M. and Kellner, U. and Leo-Kottler, B. and Auburger, G. and Bhattacharya, S.S. and Wissinger, B.
Nature Genetics 26 : 211-215. 1 October 2000

Genome-wide, large-scale production of mutant mice by ENU mutagenesis.
de Angelis, M.H. and Flaswinkel, H. and Fuchs, H. and Rathkolb, B. and Soewarto, D. and Marschall, S. and Heffner, S. and Pargent, W. and Wuensch, K. and Jung, M. and Reis, A. and Richter, T. and Alessandrini, F. and Jakob, T. and Fuchs, E. and Kolb, H. and Kremmer, E. and Schaeble, K. and Rollinski, B. and Roscher, A. and Peters, C. and Meitinger, T. and Strom, T. and Steckler, T. and Holsboer, F. and Klopstock, T. and Gekeler, F. and Schindewolf, C. and Jung, T. and Avraham, K. and Behrendt, H. and Ring, J. and Zimmer, A. and Schughart, K. and Pfeffer, K. and Wolf, E. and Balling, R.
Nature Genetics 25 : 444-447. 1 August 2000

More than 1,000 putative new human signalling proteins revealed by EST data mining.
Schultz, J. and Doerks, T. and Ponting, C.P. and Copley, R.R. and Bork, P.
Nature Genetics 25 (2): 201-204. 1 June 2000

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
Witt, H. and Luck, W. and Hennies, H.C. and Classen, M. and Kage, A. and Lass, U. and Landt, O. and Becker, M.
Nature Genetics 25 (2): 213-216. 1 June 2000

Somatic integration and long-term transgene expression in normal and haemophilic mice using a DNA transposon system.
Yant, S.R. and Meuse, L. and Chiu, W. and Ivics, Z. and Izsvak, Z. and Kay, M.A.
Nature Genetics 25 (1): 35-41. 1 May 2000


Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.
Bittner, R.E. and Anderson, L.V.B. and Burkhardt, E. and Bashir, R. and Vafiadaki, E. and Ivanova, S. and Raffelsberger, T. and Maerk, I. and Hoeger, H. and Jung, M. and Karbasiyan, M. and Storch, M. and Lassmann, H. and Moss, J.A. and Davison, K. and Harrison, R. and Bushby, K.M.D. and Reis, A.
Nature Genetics 23 : 141-142. 1 October 1999

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak, K.J. and Wattanasirichaigoon, D. and Goebel, H.H. and Wilce, M. and Pelin, K. and Donner, K. and Jacob, R.L. and Huebner, C. and Oexle, K. and Anderson, J.R. and Verity, C.M. and North, K.N. and Iannaccone, S.T. and Mueller, C.R. and Nuernberg, P. and Muntoni, F. and Sewry, C. and Hughes, I. and Sutphen, R. and Lacson, A.G. and Swoboda, K.J. and Vigneron, J. and Wallgren-Pettersson, C. and Beggs, A.H. and Laing, N.G.
Nature Genetics 23 : 208-212. 1 October 1999

A point of entry into genomics.
Bork, P. and Huynen, M.
Nature Genetics 23 : 273-273. 1 January 1999

Genome phylogeny based on gene content.
Snel, B. and Bork, P. and Huynen, M.A.
Nature Genetics 21 : 108-110. 1 January 1999


Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta 1 subunit gene SCN1B.
Wallace, R.H. and Wang, D.W. and Singh, R. and Scheffer, I.E. and George, A.L. and Phillips, H.A. and Saar, K. and Reis, A. and Johnson, E.W. and Sutherland, G.R. and Berkovic, S.F. and Mulley, J.C.
Nature Genetics 19 (4): 366-370. 1 August 1998

Predicting functions from protein sequences - where are the bottlenecks?
Bork, P. and Koonin, E.V.
Nature Genetics 18 : 313-318. 1 January 1998


Cholesterol, hedgehog and embryogenesis.
Herz, J. and Willnow, T.E. and Farese, R.V.
Nature Genetics 15 (2): 123-124. February 1997


BRCA1 protein products ... Functional motifs...
Koonin, E.V. and Altschul, S.F. and Bork, P.
Nature Genetics 13 (3): 266-268. 1 July 1996

Ectopic expression of thyrotropin releasing hormone (TRH) receptors in liver modulates organ function to regulate blood glucose by TRH.
Wolff, G. and Mastrangeli, A. and Heinflink, M. and Falck-Pedersen, E. and Gershengorn, M.C. and Crystal, R.G.
Nature Genetics 12 (3): 274-279. March 1996

Internal repeats in the BRCA2 protein sequence.
Bork, P. and Blomberg, N. and Nilges, M.
Nature Genetics 13 : 22-23. 1 January 1996

Identification and mutation analysis of the complete gene for the Chediak-Higashi syndrome.
Nagle, D.L. and Karim, M. and Woolf, E.A. and Holmgren, L. and Bork, P. and Misumi, D. and McGrail, D. and Dussault, J.R. and Duyk, G. and Spritz, R.A. and Moore, K.J.
Nature Genetics 14 : 307-312. 1 January 1996

Chromosomal mapping of quantitative trait loci contributing to stroke in a rat model of complex human disease.
Rubattu, S. and Volpe, M. and Kreutz, R. and Ganten, U. and Ganten, D. and Lindpaintner, K.
Nature Genetics 13 : 429-434. 1 January 1996

Severe autosomal dominant hypertension and brachydactyly in a unique turkish kindred maps to human chromosome 12.
Schuster, H. and Wienker, T.F. and Baehring, S. and Bilginturan, N. and Toka, H.R. and Neitzel, H. and Jeschke, E. and Toka, O. and Gilbert, D. and Lowe, A. and Ott, J. and Haller, H. and Luft, F.C.
Nature Genetics 13 (1): 98-100. 1 January 1996


Mutations in the cardiac myosin binding protein-c gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
Watkins, H. and Conner, D. and Thierfelder, L.H. and Jarcho, J.A. and MacRae, C. and McKenna, W.J. and Maron, B.J. and Seidman, J.G. and Seidman, C.E.
Nature Genetics 11 (4): 434-437. 1 December 1995

Heat repeats in Huntington's disease protein.
Andrade, M.A. and Bork, P.
Nature Genetics 11 (2): 115-116. 1 October 1995


The origin of the major cystic fibrosis mutation (delta F508) in European populations.
Morral, N. and Bertranpetit, J. and Estivill, X. and Nunes, V. and Casals, T. and Gimenez, J. and Reis, A. and Varon-Mateeva, R. and Macek, M. and Kalaydjieva, L.
Nature Genetics 7 : 169-175. 1 January 1994

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
Reis, A. and Hennies, H.C. and Langbein, L. and Digweed, M. and Mischke, D. and Drechsler, M. and Schroeck, E. and Royer-Pokora, B. and Franke, W.W. and Sperling, K. and Kuester, W.
Nature Genetics 6 : 174-179. 1 January 1994


Molecular modelling of the norrie disease protein predicts a cystine knot growth factor tertiary structure.
Meitinger, T. and Meindl, A. and Bork, P. and Rost, B. and Sander, C. and Haasemann, M. and Murken, J.
Nature Genetics 5 : 376-380. 1 January 1993

A disease locus for familiar hypertrophic cardiomyopathy maps to chromosome 1q3.
Watkins, H. and MacRae, C. and Thierfelder, L.H. and Chou, Y. and Frenneaux, M. and McKenna, W. and Seidman, J.G. and Seidman, C.E.
Nature Genetics 3 : 333-336. 1 January 1993

This list was generated on Mon Sep 24 02:31:15 2018 CEST.
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