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Article

ADAM19 cleaves the PTH receptor and associates with brachydactyly type E.
Aydin, A. and Klenk, C. and Nemec, K. and Işbilir, Ali and Martin, L.M. and Zauber, H. and Rrustemi, T. and Toka, H.R. and Schuster, H. and Gong, M. and Stricker, S. and Bock, A. and Bähring, S. and Selbach, M. and Lohse, M.J. and Luft, F.C.
Life Science Alliance 7 (4): e202302400. April 2024

Translation of non-canonical open reading frames as a cancer cell survival mechanism in childhood medulloblastoma.
Hofman, D.A. and Ruiz-Orera, J. and Yannuzzi, I. and Murugesan, R. and Brown, A. and Clauser, K.R. and Condurat, A.L. and van Dinter, J.T. and Engels, S.A.G. and Goodale, A. and van der Lugt, J. and Abid, T. and Wang, L. and Zhou, K.N. and Vogelzang, J. and Ligon, K.L. and Phoenix, T.N. and Roth, J.A. and Root, D.E and Hubner, N. and Golub, T.R. and Bandopadhayay, P. and van Heesch, S. and Prensner, J.R.
Molecular Cell 84 (2): 261-276.e18. 18 January 2024

Macrocephaly and digital anomalies expand the phenotypic spectrum of PGAP2 variants in hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3).
Susgun, S. and Ben-Mahmoud, A. and Rüschendorf, F. and Ku, B. and Hussain, S.I. and Schulz, S. and Puk, O. and Biskup, S. and Labonne, J.D.J. and Don, D.W. and Gupta, V. and Choi, T.I. and Khan, S. and Wasif, N. and Lacassie, Y. and Layman, L.C. and Ugur Iseri, S.A. and Kim, C.H. and Kim, H.G.
Human Mutation 2024 : 1-13. 5 January 2024

Endothelial overexpression of TGF-β-induced protein impairs venous thrombus resolution.
Bochenek, M.L. and Saar, K. and Nazari-Jahantigh, M. and Gogiraju, R. and Wiedenroth, C.B. and Münzel, T. and Mayer, E. and Fink, L. and Schober, A. and Hübner, N. and Guth, S. and Konstantinides, S. and Schäfer, K.
JACC: Basic to Translational Science 9 (1): 100-116. January 2024

Targeting the tissue factor coagulation initiation complex prevents antiphospholipid antibody development.
Mueller-Calleja, N. and Grunz, K. and Nguyen, T.S. and Posma, J. and Pedrosa, D. and Meineck, M. and Hollerbach, A. and Braun, J. and Muth, S. and Schild, H. and Saar, K. and Hübner, N. and Krishnaswamy, S. and Royce, J. and Teyton, L. and Lemmermann, N.A. and Weinmann-Menke, J. and Lackner, K.J. and Ruf, W.
Blood 27 December 2023 (In Press)

Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Kühnisch, J. and Theisen, S. and Dartsch, J. and Fritsche-Guenther, R. and Kirchner, M. and Obermayer, B. and Bauer, A. and Kahlert, A.K. and Rothe, M. and Beule, D. and Heuser, A. and Mertins, P. and Kirwan, J.A. and Berndt, N. and MacRae, C.A. and Hubner, N. and Klaassen, S.
Cardiovascular Research 119 (18): 2902-2916. December 2023

Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism.
Loos, M. and Klampe, B. and Schulze, T. and Yin, X. and Theofilatos, K. and Ulmer, B.M. and Schulz, C. and Behrens, C.S. and van Bergen, T.D. and Adami, E. and Maatz, H. and Schweizer, M. and Brodesser, S. and Skryabin, B.V. and Rozhdestvensky, T.S. and Bodbin, S. and Stathopoulou, K. and Christ, T. and Denning, C. and Hübner, N. and Mayr, M. and Cuello, F. and Eschenhagen, T. and Hansen, A.
Stem Cell Reports 18 (11): 2123-2137. 14 November 2023

Protocol of the Berlin Long-term Observation of Vascular Events (BeLOVE): a prospective cohort study with deep phenotyping and long-term follow up of cardiovascular high-risk patients.
Weber, J.E. and Ahmadi, M. and Boldt, L.H. and Eckardt, K.U. and Edelmann, F. and Gerhardt, H. and Grittner, U. and Haubold, K. and Hübner, N. and Kollmus-Heege, J. and Landmesser, U. and Leistner, D.M. and Mai, K. and Müller, D.N. and Nolte, C.H. and Pieske, B. and Piper, S.K. and Rattan, S. and Rauch, G. and Schmidt, S. and Schmidt-Ott, K.M. and Schönrath, K. and Schulz-Menger, J. and Schweizerhof, O. and Siegerink, B. and Spranger, J. and Ramachandran, V.S. and Witzenrath, M. and Endres, M. and Pischon, T.
BMJ Open 13 (10): e076415. 31 October 2023

European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.
Budu-Aggrey, A. and Kilanowski, A. and Sobczyk, M.K. and Shringarpure, S.S. and Mitchell, R. and Reis, K. and Reigo, A. and Mägi, R. and Nelis, M. and Tanaka, N. and Brumpton, B.M. and Thomas, L.F. and Sole-Navais, P. and Flatley, C. and Espuela-Ortiz, A. and Herrera-Luis, E. and Lominchar, J.V.T. and Bork-Jensen, J. and Marenholz, I. and Arnau-Soler, A. and Jeong, A. and Fawcett, K.A. and Baurecht, H. and Rodriguez, E. and Alves, A.C. and Kumar, A. and Sleiman, P.M. and Chang, X. and Medina-Gomez, C. and Hu, C. and Xu, C.J. and Qi, C. and El-Heis, S. and Titcombe, P. and Antoun, E. and Fadista, J. and Wang, C.A. and Thiering, E. and Wu, B. and Kress, S. and Kothalawala, D.M. and Kadalayil, L. and Duan, J. and Zhang, H. and Hadebe, S. and Hoffmann, T. and Jorgenson, E. and Choquet, H. and Risch, N. and Njølstad, P. and Andreassen, O.A. and Johansson, S. and Almqvist, C. and Gong, T. and Ullemar, V. and Karlsson, R. and Magnusson, P.K.E. and Szwajda, A. and Burchard, E.G. and Thyssen, J.P. and Hansen, T. and Kårhus, L.L. and Dantoft, T.M. and Jeanrenaud, A.C.S.N. and Ghauri, A. and Arnold, A. and Homuth, G. and Lau, S. and Nöthen, M.M. and Hübner, N. and Imboden, M. and Visconti, A. and Falchi, M. and Bataille, V. and Hysi, P. and Ballardini, N. and Boomsma, D.I. and Hottenga, J.J. and Müller-Nurasyid, M. and Ahluwalia, T.S. and Stokholm, J. and Chawes, B. and Schoos, A.M.M. and Esplugues, A. and Bustamante, M. and Raby, B. and Arshad, S. and German, C. and Esko, T. and Milani, L.A. and Metspalu, A. and Terao, C. and Abuabara, K. and Løset, M. and Hveem, K. and Jacobsson, B. and Pino-Yanes, M. and Strachan, D.P. and Grarup, N. and Linneberg, A. and Lee, Y. and Probst-Hensch, N. and Weidinger, S. and Jarvelin, M.R. and Melén, E. and Hakonarson, H. and Irvine, A.D. and Jarvis, D. and Nijsten, T. and Duijts, L. and Vonk, J.M. and Koppelmann, G.H. and Godfrey, K.M. and Barton, S.J. and Feenstra, B. and Pennell, C.E. and Sly, P.D. and Holt, P.G. and Williams, L.K. and Bisgaard, H. and Bønnelykke, K. and Curtin, J. and Simpson, A. and Murray, C. and Schikowski, T. and Bunyavanich, S. and Weiss, S.T. and Holloway, J.W. and Min, J.L. and Brown, S.J. and Standl, M. and Paternoster, L.
Nature Communications 14 (1): 6172. 4 October 2023

Dominance is common in mammals and is associated with trans-acting gene expression and alternative splicing.
Cui, L. and Yang, B. and Xiao, S. and Gao, J. and Baud, A. and Graham, D. and McBride, M. and Dominiczak, A. and Schafer, S. and Aumatell, R.L. and Mont, C. and Teruel, A.F. and Hübner, N. and Flint, J. and Mott, R. and Huang, L.
Genome Biology 24 (1): 215. 29 September 2023

What can Ribo-seq, immunopeptidomics, and proteomics tell us about the non-canonical proteome?
Prensner, J.R. and Abelin, J.G. and Kok, L.W. and Clauser, K.R. and Mudge, J.M. and Ruiz-Orera, J. and Bassani-Sternberg, M. and Moritz, R.L. and Deutsch, E.W. and van Heesch, S.
Molecular & Cellular Proteomics 22 (9): 100631. September 2023

Spatially resolved multiomics of human cardiac niches.
Kanemaru, K. and Cranley, J. and Muraro, D. and Miranda, A.M.A. and Ho, S.Y. and Wilbrey-Clark, A. and Patrick Pett, J. and Polanski, K. and Richardson, L. and Litvinukova, M. and Kumasaka, R. and Qin, Y. and Jablonska, Z. and Semprich, C.I. and Mach, L. and Dabrowska, M. and Richoz, R. and Bolt, L. and Mamanova, L. and Kapuge, R. and Barnett, S.N. and Perera, S. and Talavera-López, C. and Mulas, I. and Mahbubani, K.T. and Tuck, Liz and Wang, Lu and Huang, M.M. and Prete, M. and Pritchard, S. and Dark, J. and Saeb-Parsy, K. and Patel, M. and Clatworthy, M.R. and Hübner, N. and Chowdhury, R.A. and Noseda, M. and Teichmann, S.A.
Nature 619 : 801-810. 27 July 2023

Dynamic interplay between RPL3- and RPL3L-containing ribosomes modulates mitochondrial activity in the mammalian heart.
Milenkovic, I. and Santos Vieira, H.G. and Lucas, M.C. and Ruiz-Orera, J. and Patone, G. and Kesteven, S. and Wu, J. and Feneley, M. and Espadas, G. and Sabidó, E. and Hübner, N. and van Heesch, S. and Völkers, M. and Novoa, E.M.
Nucleic Acids Research 51 (11): 5301-5324. 23 June 2023

Evolutionary origins and interactomes of human, young microproteins and small peptides translated from short open reading frames.
Sandmann, C.L. and Schulz, J.F. and Ruiz-Orera, J. and Kirchner, M. and Ziehm, M. and Adami, E. and Marczenke, M. and Christ, A. and Liebe, N. and Greiner, J. and Schoenenberger, A. and Mücke, M.B. and Liang, N. and Moritz, R.L. and Sun, Z. and Deutsch, E.W. and Gotthardt, M. and Mudge, J.M. and Prensner, J.R. and Willnow, T.E. and Mertins, P. and van Heesch, S. and Hubner, N.
Molecular Cell 83 (6): 994-1011.e18. 16 March 2023

LINC01013 is a determinant of fibroblast activation and encodes a novel fibroblast-activating micropeptide.
Quaife, N.M. and Chothani, S. and Schulz, J.F. and Lindberg, E.L. and Vanezis, K. and Adami, E. and O'Fee, K. and Greiner, J. and Litviňuková, M. and van Heesch, S. and Whiffin, N. and Hubner, N. and Schafer, S. and Rackham, O. and Cook, S.A. and Barton, P.J.R.
Journal of cardiovascular translational research 16 (1): 77-85. February 2023

Mutant phosphodiesterase 3A protects from hypertension-induced cardiac damage.
Ercu, M. and Mücke, M.B. and Pallien, T. and Markó, L. and Sholokh, A. and Schächterle, C. and Aydin, A. and Kidd, A. and Walter, S. and Esmati, Y. and McMurray, B.J. and Lato, D.F. and Sunaga-Franze, D.Y. and Dierks, P.H. and Flores, B.I.M. and Walker-Gray, R. and Gong, M. and Merticariu, C. and Zühlke, K. and Russwurm, M. and Liu, T. and Batolomaeus, T.U.P. and Pautz, S. and Schelenz, S. and Taube, M. and Napieczynska, H. and Heuser, A. and Eichhorst, J. and Lehmann, M. and Miller, D.C. and Diecke, S. and Qadri, F. and Popova, E. and Langanki, R. and Movsesian, M.A. and Herberg, F.W. and Forslund, S.K. and Müller, D.N. and Borodina, T. and Maass, P.G. and Bähring, S. and Hübner, N. and Bader, M. and Klussmann, E.
Circulation 146 (23): 1758-1778. 6 December 2022

Targeting endogenous kidney regeneration using anti-IL11 therapy in acute and chronic models of kidney disease.
Widjaja, A.A. and Viswanathan, S. and Shekeran, S.G. and Adami, E. and Lim, W.W. and Chothani, S. and Tan, J. and Goh, J.W.T. and Chen, H.M. and Lim, S.Y. and Boustany-Kari, C.M. and Hawkins, J. and Petretto, E. and Hübner, N. and Schafer, S. and Coffman, T.M. and Cook, S.A.
Nature Communications 13 (1): 7497. 5 December 2022

AntiSplodge: a neural-network-based RNA-profile deconvolution pipeline designed for spatial transcriptomics.
Lund, J.B. and Lindberg, E.L. and Maatz, H. and Pottbaecker, F. and Hübner, N. and Lippert, C.
NAR Genomics and Bioinformatics 4 (4): lqac073. December 2022

pTINCR microprotein promotes epithelial differentiation and suppresses tumor growth through CDC42 SUMOylation and activation.
Boix, O. and Martinez, M. and Vidal, S. and Giménez-Alejandre, M. and Palenzuela, L. and Lorenzo-Sanz, L. and Quevedo, L. and Moscoso, O. and Ruiz-Orera, J. and Ximénez-Embún, P. and Ciriaco, N. and Nuciforo, P. and Stephan-Otto Attolini, C. and Albà, M.M. and Muñoz, J. and Tian, T.V. and Varela, I. and Vivancos, A. and Ramón Y Cajal, S. and Muñoz, P. and Rivas, C. and Abad, M.
Nature Communications 13 (1): 6840. 11 November 2022

SAMHD1 controls innate immunity by regulating condensation of immunogenic self RNA.
Maharana, S. and Kretschmer, S. and Hunger, S. and Yan, X. and Kuster, D. and Traikov, S. and Zillinger, T. and Gentzel, M. and Elangovan, S. and Dasgupta, P. and Chappidi, N. and Lucas, N. and Maser, K.I. and Maatz, H. and Rapp, A. and Marchand, V. and Chang, Y.T. and Motorin, Y. and Hubner, N. and Hartmann, G. and Hyman, A.A. and Alberti, S. and Lee-Kirsch, M.A.
Molecular Cell 82 (19): 3712-3728.e10. 6 October 2022

Integrative analysis of macrophage ribo-Seq and RNA-Seq data define glucocorticoid receptor regulated inflammatory response genes into distinct regulatory classes.
Ansari, S.A. and Dantoft, W. and Ruiz-Orera, J. and Syed, A.P. and Blachut, S. and van Heesch, S. and Hübner, N. and Uhlenhaut, N.H.
Computational and Structural Biotechnology Journal 20 : 5622-5638. 3 October 2022

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Lin, S.J. and Vona, B. and Porter, H.M. and Izadi, M. and Huang, K. and Lacassie, Y. and Rosenfeld, J.A. and Khan, S. and Petree, C. and Ali, T.A. and Muhammad, N. and Khan, S.A. and Muhammad, N. and Liu, P. and Haymon, M.L. and Rüschendorf, F. and Kong, I.K. and Schnapp, L. and Shur, N. and Chorich, L. and Layman, L. and Haaf, T. and Pourkarimi, E. and Kim, H.G. and Varshney, G.K.
Human Mutation 43 (10): 1472-1489. October 2022

Aging-regulated TUG1 is dispensable for endothelial cell function.
Gimbel, A.T. and Koziarek, S. and Theodorou, K. and Schulz, J.F. and Stanicek, L. and Kremer, V. and Ali, T. and Günther, S. and Kumar, S. and Jo, H. and Hübner, N. and Maegdefessel, L. and Dimmeler, S. and van Heesch, S. and Boon, R.A.
PLoS ONE 17 (9): e0265160. 29 September 2022

Identification of novel genes whose expression in adipose tissue affects body fat mass and distribution: an RNA-Seq and Mendelian Randomization study.
Konigorski, S. and Janke, J. and Patone, G. and Bergmann, M.M. and Lippert, C. and Hübner, N. and Kaaks, R. and Boeing, H. and Pischon, T.
European Journal of Human Genetics 11 August 2022 (In Press)

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Reichart, D. and Lindberg, E.L. and Maatz, H. and Miranda, A.M.A. and Viveiros, A. and Shvetsov, N. and Gärtner, A. and Nadelmann, E.R. and Lee, M. and Kanemaru, K. and Ruiz-Orera, J. and Strohmenger, V. and DeLaughter, D.M. and Patone, G. and Zhang, H. and Woehler, A. and Lippert, C. and Kim, Y. and Adami, E. and Gorham, J.M. and Barnett, S.N. and Brown, K. and Buchan, R.J. and Chowdhury, R.A. and Constantinou, C. and Cranley, J. and Felkin, L.E. and Fox, H. and Ghauri, A. and Gummert, J. and Kanda, M. and Li, R. and Mach, L. and McDonough, B. and Samari, S. and Shahriaran, F. and Yapp, C. and Stanasiuk, C. and Theotokis, P.I. and Theis, F.J. and van den Bogaerdt, A. and Wakimoto, H. and Ware, J.S. and Worth, C.L. and Barton, P.J.R. and Lee, Y.A. and Teichmann, S.A. and Milting, H. and Noseda, M. and Oudit, G.Y. and Heinig, M. and Seidman, J.G. and Hubner, N. and Seidman, C.E.
Science 377 (6606): eabo1984. 5 August 2022

A high-resolution map of human RNA translation.
Chothani, S.P. and Adami, E. and Widjaja, A.A. and Langley, S.R. and Viswanathan, S. and Pua, C.J. and Zhihao, N.T. and Harmston, N. and D'Agostino, G. and Whiffin, N. and Mao, W. and Ouyang, J.F. and Lim, W.W. and Lim, S. and Lee, C.Q.E. and Grubman, A. and Chen, J. and Kovalik, J.P. and Tryggvason, K. and Polo, J.M. and Ho, L. and Cook, S.A. and Rackham, O.J.L. and Schafer, S.
Molecular Cell 82 (15): 2885-2899.e8. 4 August 2022

In prostate cancer cells cytokines are early responders to gravitational changes occurring in parabolic flights.
Schulz, H. and Dietrichs, D. and Wehland, M. and Corydon, T.J. and Hemmersbach, R. and Liemersdorf, C. and Melnik, D. and Hübner, N. and Saar, K. and Infanger, M. and Grimm, D.
International Journal of Molecular Sciences 23 (14): 7876. 17 July 2022

Ablation of lysophosphatidic acid receptor 1 attenuates hypertrophic cardiomyopathy in a mouse model.
Axelsson Raja, A. and Wakimoto, H. and DeLaughter, D.M. and Reichart, D. and Gorham, J. and Conner, D.A. and Lun, M. and Probst, C.K. and Sakai, N. and Knipe, R.S. and Montesi, S.B. and Shea, B. and Adam, L.P. and Leinwand, L.A. and Wan, W. and Choi, E.S. and Lindberg, E.L. and Patone, G. and Noseda, M. and Hübner, N. and Seidman, C.E. and Tager, A.M. and Seidman, J.G. and Ho, C.Y.
Proceedings of the National Academy of Sciences of the United States of America 119 (28): e2204174119. 12 July 2022

A neutralizing IL-11 antibody improves renal function and increases lifespan in a mouse model of alport syndrome.
Widjaja, A.A. and Shekeran, S. and Adami, E. and Goh, J. and Tan, J. and Viswanathan, S. and Lim, S.Y. and Tan, P.H. and Hübner, N. and Coffman, T. and Cook, S.
Journal of the American Society of Nephrology 33 (4): 718-730. April 2022

Cap analysis of gene expression reveals alternative promoter usage in a rat model of hypertension.
Dahale, S. and Ruiz-Orera, J. and Silhavy, J. and Hübner, N. and van Heesch, S. and Pravenec, M. and Atanur, S.S.
Life Science Alliance 5 (4): e202101234. April 2022

Expression of cardiovascular-related microRNAs is altered in L-arginine:glycine amidinotransferase deficient mice.
Jensen, M. and Müller, C. and Huebner, N. and Patone, G. and Saar, K. and Choe, C.U. and Schwedhelm, E. and Zeller, T.
Scientific Reports 12 (1): 5108. 24 March 2022

IL11 activates pancreatic stellate cells and causes pancreatic inflammation, fibrosis and atrophy in a mouse model of pancreatitis.
Ng, B. and Viswanathan, S. and Widjaja, A.A. and Lim, W.W. and Shekeran, S.G. and Goh, J.W.T. and Tan, J. and Kuthubudeen, F. and Lim, S.Y. and Xie, C. and Schafer, S. and Adami, E. and Cook, S.A.
International Journal of Molecular Sciences 23 (7): 3549. 24 March 2022

Naïve-like pluripotency to pave the way for saving the northern white rhinoceros from extinction.
Zywitza, V. and Rusha, E. and Shaposhnikov, D. and Ruiz-Orera, J. and Telugu, N. and Rishko, V. and Hayashi, M. and Michel, G. and Wittler, L. and Stejskal, J. and Holtze, S. and Göritz, F. and Hermes, R. and Wang, J. and Izsvák, Z. and Colleoni, S. and Lazzari, G. and Galli, C. and Hildebrandt, T.B. and Hayashi, K. and Diecke, S. and Drukker, M.
Scientific Reports 12 (1): 3100. 8 March 2022

Protective immune trajectories in early viral containment of non-pneumonic SARS-CoV-2 infection.
Pekayvaz, K. and Leunig, A. and Kaiser, R. and Joppich, M. and Brambs, S. and Janjic, A. and Popp, O. and Nixdorf, D. and Fumagalli, V. and Schmidt, N. and Polewka, V. and Anjum, A. and Knottenberg, V. and Eivers, L. and Wange, L.E. and Gold, C. and Kirchner, M. and Muenchhoff, M. and Hellmuth, J.C. and Scherer, C. and Rubio-Acero, R. and Eser, T. and Deák, F. and Puchinger, K. and Kuhl, N. and Linder, A. and Saar, K. and Tomas, L. and Schulz, C. and Wieser, A. and Enard, W. and Kroidl, I. and Geldmacher, C. and von Bergwelt-Baildon, M. and Keppler, O.T. and Munschauer, M. and Iannacone, M. and Zimmer, R. and Mertins, P. and Hubner, N. and Hoelscher, M. and Massberg, S. and Stark, K. and Nicolai, L.
Nature Communications 13 (1): 1018. 23 February 2022

TUNAR lncRNA encodes a microprotein that regulates neural differentiation and neurite formation by modulating calcium dynamics.
Senís, E. and Esgleas, M. and Najas, S. and Jiménez-Sábado, V. and Bertani, C. and Giménez-Alejandre, M. and Escriche, A. and Ruiz-Orera, J. and Hergueta-Redondo, M. and Jiménez, M. and Giralt, A. and Nuciforo, P. and Albà, M.M. and Peinado, H. and Del Toro, D. and Hove-Madsen, L. and Götz, M. and Abad, M.
Frontiers in Cell and Developmental Biology 9 : 747667. 31 December 2021

Extracellular matrix in heart Failure: role of ADAMTS5 in proteoglycan remodeling.
Barallobre-Barreiro, J. and Radovits, T. and Fava, M. and Mayr, U. and Lin, W.Y. and Ermolaeva, E. and Martínez-López, D. and Lindberg, E.L. and Duregotti, E. and Daróczi, L. and Hasman, M. and Schmidt, L.E. and Singh, B. and Lu, R. and Baig, F. and Siedlar, A.M. and Cuello, F. and Catibog, N. and Theofilatos, K. and Shah, A.M. and Crespo-Leiro, M.G. and Doménech, N. and Hübner, N. and Merkely, B. and Mayr, M.
Circulation 144 (25): 2021-2034. 21 December 2021

Multifunctional RNA-binding proteins influence mRNA abundance and translational efficiency of distinct sets of target genes.
Schneider-Lunitz, V. and Ruiz-Orera, J. and Hubner, N. and van Heesch, S.
PLoS Computational Biology 17 (12): e1009658. 8 December 2021

Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.
Grosche, S. and Marenholz, I. and Esparza-Gordillo, J. and Arnau-Soler, A. and Pairo-Castineira, E. and Rüschendorf, F. and Ahluwalia, T.S. and Almqvist, C. and Arnold, A. and Baurecht, H. and Bisgaard, H. and Bønnelykke, K. and Brown, S.J. and Bustamante, M. and Curtin, J.A. and Custovic, A. and Dharmage, S.C. and Esplugues, A. and Falchi, M. and Fernandez-Orth, D. and Ferreira, M.A.R. and Franke, A. and Gerdes, S. and Gieger, C. and Hakonarson, H. and Holt, P.G. and Homuth, G. and Hubner, N. and Hysi, P.G. and Jarvelin, M.R. and Karlsson, R. and Koppelman, G.H. and Lau, S. and Lutz, M. and Magnusson, P.K.E. and Marks, G.B. and Müller-Nurasyid, M. and Nöthen, M.M. and Paternoster, L. and Pennell, C.E. and Peters, A. and Rawlik, K. and Robertson, C.F. and Rodriguez, E. and Sebert, S. and Simpson, A. and Sleiman, P.M.A. and Standl, M. and Stölzl, D. and Strauch, K. and Szwajda, A. and Tenesa, A. and Thompson, P.J. and Ullemar, V. and Visconti, A. and Vonk, J.M. and Wang, C.A. and Weidinger, S. and Wielscher, M. and Sargent, C.L. and Xu, C.J. and Lee, Y.A.
Nature Communications 12 (1): 6618. 16 November 2021

Vascular tissue specific miRNA profiles reveal novel correlations with risk factors in coronary artery disease.
Neiburga, K. and Vilne, B. and Bauer, S. and Bongiovanni, D. and Ziegler, T. and Lachmann, M. and Wengert, S. and Hawe, J. and Güldener, U. and Westerlund, A. and Li, L. and Pang, S. and Yang, C. and Saar, K. and Huebner, N. and Maegdefessel, L. and Lange, R. and Krane, M. and Schunkert, H. and von Scheidt, M.
Biomolecules 11 (11): 1683. 12 November 2021

Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.
Fomin, A. and Gärtner, A. and Cyganek, L. and Tiburcy, M. and Tuleta, I. and Wellers, L. and Folsche, L. and Hobbach, A.J. and von Frieling-Salewsky, M. and Unger, A. and Hucke, A. and Koser, F. and Kassner, A. and Sielemann, K. and Streckfuß-Bömeke, K. and Hasenfuss, G. and Goedel, A. and Laugwitz, K.L. and Moretti, A. and Gummert, J.F. and Dos Remedios, C.G. and Reinecke, H. and Knöll, R. and van Heesch, S. and Hubner, N. and Zimmermann, W.H. and Milting, H. and Linke, W.A.
Science Translational Medicine 13 (618): eabd3079. 3 November 2021

Self-sustaining interleukin-8 loops drive a prothrombotic neutrophil phenotype in severe COVID-19.
Kaiser, R. and Leunig, A. and Pekayvaz, K. and Popp, O. and Joppich, M. and Polewka, V. and Escaig, R. and Anjum, A. and Hoffknecht, M.L. and Gold, C. and Brambs, S. and Engel, A. and Stockhausen, S. and Knottenberg, V. and Titova, A. and Haji, M. and Scherer, C. and Muenchhoff, M. and Hellmuth, J.C. and Saar, K. and Schubert, B. and Hilgendorff, A. and Schulz, C. and Kääb, S. and Zimmer, R. and Hübner, N. and Massberg, S. and Mertins, P. and Nicolai, L. and Stark, K.
JCI Insight 6 (18): e150862. 22 September 2021

Identification of disease-relevant modulators of the SHH pathway in the developing brain.
Mecklenburg, N. and Kowalczyk, I. and Witte, F. and Görne, J. and Laier, A. and Mamo, T.M. and Gonschior, H. and Lehmann, M. and Richter, M. and Sporbert, A. and Purfürst, B. and Hübner, N. and Hammes, A.
Development 148 (17): dev199307. September 2021

A trans locus causes a ribosomopathy in hypertrophic hearts that affects mRNA translation in a protein length-dependent fashion.
Witte, F. and Ruiz-Orera, J. and Ciolli Mattioli, C. and Blachut, S. and Adami, E. and Schulz, J.F. and Schneider-Lunitz, V. and Hummel, O. and Patone, G. and Mücke, M.B. and Šilhavý, Jan and Heinig, M. and Bottolo, L. and Sanchis, D. and Vingron, M. and Chekulaeva, M. and Pravenec, M. and Hubner, N. and van Heesch, S.
Genome Biology 22 (1): 191. 28 June 2021

Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation.
Cuello, F. and Knaust, A.E. and Saleem, U. and Loos, M. and Raabe, J. and Mosqueira, D. and Laufer, S. and Schweizer, M. and Kraak, P. and Flenner, F. and Ulmer, B.M and Braren, I. and Yin, X. and Theofilatos, K. and Ruiz-Orera, J. and Patone, G. and Klampe, B. and Schulze, T. and Piasecki, A. and Pinto, Y. and Vink, A. and Hübner, N. and Harding, S. and Mayr, M. and Denning, C. and Eschenhagen, T. and Hansen, A.
EMBO Molecular Medicine 13 (6): e13074. 7 June 2021

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona, B. and Mazaheri, N. and Lin, S.J. and Dunbar, L.A. and Maroofian, R. and Azaiez, H. and Booth, K.T. and Vitry, S. and Rad, A. and Rüschendorf, F. and Varshney, P. and Fowler, B. and Beetz, C. and Alagramam, K.N. and Murphy, D. and Shariati, G. and Sedaghat, A. and Houlden, H. and Petree, C. and VijayKumar, S. and Smith, R.J.H. and Haaf, T. and El-Amraoui, A. and Bowl, M.R. and Varshney, G.K. and Galehdari, H.
Human Genetics 140 (6): 915-931. June 2021

Impact of uORFs in mediating regulation of translation in stress conditions.
Moro, S.G. and Hermans, C. and Ruiz-Orera, J. and Albà, M.M.
BMC Molecular and Cell Biology 22 (1): 29. 16 May 2021

Isolation of nuclei from mammalian cells and tissues for single-nucleus molecular profiling.
Nadelmann, E.R. and Gorham, J.M. and Reichart, D. and Delaughter, D.M. and Wakimoto, H. and Lindberg, E.L. and Litviňuková, M. and Maatz, H. and Curran, J.J. and Ischiu Gutierrez, D. and Hübner, N. and Seidman, C.E. and Seidman, J G
Current Protocols 1 (5): e132. May 2021

Apple peel and flesh contain pro-neurogenic compounds.
Ichwan, M. and Walker, T.L. and Nicola, Z. and Ludwig-Müller, J. and Böttcher, C. and Overall, R.W. and Adusumilli, V.S. and Bulut, M. and Sykes, A.M. and Hübner, N. and Ramirez-Rodriguez, G. and Ortiz-López, L. and Lugo-Hernández, E.A. and Kempermann, G.
Stem Cell Reports 16 (3): 548-565. 9 March 2021

Single-cell meta-analysis of SARS-CoV-2 entry genes across tissues and demographics.
Muus, C. and Luecken, M.D. and Eraslan, G. and Sikkema, L. and Waghray, A. and Heimberg, G. and Kobayashi, Y. and Vaishnav, E.D. and Subramanian, A. and Smillie, C. and Jagadeesh, K.A. and Duong, E.T. and Fiskin, E. and Triglia, E.T. and Ansari, M. and Cai, P. and Lin, B. and Buchanan, J. and Chen, S. and Shu, J. and Haber, A.L. and Chung, H. and Montoro, D.T. and Adams, T. and Aliee, H. and Allon, S.J. and Andrusivova, Z. and Angelidis, I. and Ashenberg, O. and Bassler, K. and Bécavin, C. and Benhar, I. and Bergenstråhle, J. and Bergenstråhle, L. and Bolt, L. and Braun, E. and Bui, L.T. and Callori, S. and Chaffin, M. and Chichelnitskiy, E. and Chiou, J. and Conlon, T.M. and Cuoco, M.S. and Cuomo, A.S.E. and Deprez, M. and Duclos, G. and Fine, D. and Fischer, D.S. and Ghazanfar, S. and Gillich, A. and Giotti, B. and Gould, J. and Guo, M. and Gutierrez, A.J. and Habermann, A.C. and Harvey, T. and He, P. and Hou, X. and Hu, L. and Hu, Y. and Jaiswal, A. and Ji, L. and Jiang, P. and Kapellos, T.S. and Kuo, C.S. and Larsson, L. and Leney-Greene, M.A. and Lim, K. and Litviňuková, M. and Ludwig, L.S. and Lukassen, S. and Luo, W. and Maatz, H. and Madissoon, E. and Mamanova, L. and Manakongtreecheep, K. and Leroy, S. and Mayr, C.H. and Mbano, I.M. and McAdams, A.M. and Nabhan, A.N. and Nyquist, S.K. and Penland, L. and Poirion, O.B. and Poli, S. and Qi, C.C. and Queen, R. and Reichart, D. and Rosas, I. and Schupp, J.C. and Shea, C.V. and Shi, X. and Sinha, R. and Sit, R.V. and Slowikowski, K. and Slyper, M. and Smith, N.P. and Sountoulidis, A. and Strunz, M. and Sullivan, T.B. and Sun, D. and Talavera-López, C. and Tan, P. and Tantivit, J. and Travaglini, K.J. and Tucker, N.R. and Vernon, K.A. and Wadsworth, M.H. and Waldman, J. and Wang, X. and Xu, K. and Yan, W. and Zhao, W. and Ziegler, C.G.K.
Nature Medicine 27 (3): 546-559. 2 March 2021

Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Jiang, H. and Hooper, C. and Kelly, M. and Steeples, V. and Simon, J.N. and Beglov, J. and Azad, A.J. and Leinhos, L. and Bennett, P. and Ehler, E. and Kalisch-Smith, J.I. and Sparrow, D.B. and Fischer, R. and Heilig, R. and Isackson, H. and Ehsan, M. and Patone, G. and Huebner, N. and Davies, B. and Watkins, H. and Gehmlich, K.
Basic Research in Cardiology 116 (1): 14. 26 February 2021

Cerebral angiogenesis ameliorates pathological disorders in Nemo-deficient mice with small-vessel disease.
Jiang, Y. and Müller, K. and Khan, M.A. and Assmann, J.C. and Lampe, J. and Kilau, K. and Richter, M. and Kleint, M. and Ridder, D.A. and Hübner, N. and Schmidt-Supprian, M. and Wenzel, J. and Schwaninger, M.
Journal of Cerebral Blood Flow and Metabolism 41 (2): 219-235. 1 February 2021

Endophilin A2 deficiency protects rodents from autoimmune arthritis by modulating T cell activation.
Norin, U. and Rintisch, C. and Meng, L. and Forster, F. and Ekman, D. and Tuncel, J. and Klocke, K. and Bäcklund, J. and Yang, M. and Bonner, M.Y and Lahore, G.F. and James, J. and Shchetynsky, K. and Bergquist, M. and Gjertsson, I. and Hubner, N. and Bäckdahl, L. and Holmdahl, R.
Nature Communications 12 (1): 610. 27 January 2021

Uncovering de novo gene birth in yeast using deep transcriptomics.
Blevins, W.R. and Ruiz-Orera, J. and Messeguer, X. and Blasco-Moreno, B. and Villanueva-Cañas, J.L. and Espinar, L. and Díez, J. and Carey, L.B. and Albà, M.M.
Nature Communications 12 (1): 604. 27 January 2021

Transcriptional signatures regulated by TRPC1/C4-mediated Background Ca(2+) entry after pressure-overload induced cardiac remodelling.
Camacho Londoño, J.E. and Kuryshev, V. and Zorn, M. and Saar, K. and Tian, Q. and Hübner, N. and Nawroth, P. and Dietrich, A. and Birnbaumer, L. and Lipp, P. and Dieterich, C. and Freichel, M.
Progress in Biophysics and Molecular Biology 159 : 86-104. January 2021

Cells of the adult human heart.
Litviňuková, M. and Talavera-López, C. and Maatz, H. and Reichart, D. and Worth, C.L. and Lindberg, E.L. and Kanda, M. and Polanski, K. and Heinig, M. and Lee, M.l and Nadelmann, E.R. and Roberts, K. and Tuck, L. and Fasouli, E.S. and DeLaughter, D.M. and McDonough, B. and Wakimoto, H. and Gorham, J.M. and Samari, S. and Mahbubani, K.T. and Saeb-Parsy, K. and Patone, G. and Boyle, J.J. and Zhang, H. and Zhang, H. and Viveiros, A. and Oudit, G.Y. and Bayraktar, O. and Seidman, J.G. and Seidman, C.E. and Noseda, M. and Hubner, N. and Teichmann, S.A.
Nature 588 (7838): 466-472. 17 December 2020

LifeTime and improving European healthcare through cell-based interceptive medicine.
Rajewsky, N. and Almouzni, G. and Gorski, S.A. and Aerts, S. and Amit, I. and Bertero, M.G. and Bock, C. and Bredenoord, A.L. and Cavalli, G. and Chiocca, S. and Clevers, H. and De Strooper, B. and Eggert, A. and Ellenberg, J. and Fernández, X.M. and Figlerowicz, M. and Gasser, S.M. and Hubner, N. and Kjems, J. and Knoblich, J.A. and Krabbe, G. and Lichter, P. and Linnarsson, S. and Marine, J.C. and Marioni, J. and Marti-Renom, M.A. and Netea, M.G. and Nickel, D. and Nollmann, M. and Novak, H.R. and Parkinson, H. and Piccolo, S. and Pinheiro, I. and Pombo, A. and Popp, C. and Reik, W. and Roman-Roman, S. and Rosenstiel, P. and Schultze, J.L. and Stegle, O. and Tanay, A. and Testa, G. and Thanos, D. and Theis, F.J. and Torres-Padilla, M.E. and Valencia, A. and Vallot, C. and van Oudenaarden, A. and Vidal, M. and Voet, T.
Nature 587 (7834): 377-386. 19 November 2020

Genetic spectrum of syndromic and non-syndromic hearing loss in Pakistani families.
Doll, J. and Vona, B. and Schnapp, L. and Rüschendorf, F. and Khan, I. and Khan, S. and Muhammad, N. and Alam Khan, S. and Nawaz, H. and Khan, A. and Ahmad, N. and Kolb, S.M. and Kühlewein, L. and Labonne, J.D.J. and Layman, L.C. and Hofrichter, M.A.H. and Röder, T. and Dittrich, M. and Müller, T. and Graves, T.D. and Kong, I.K. and Nanda, I. and Kim, H.G. and Haaf, T.
Genes 11 (11): 1329. 11 November 2020

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
Su, X. and Feng, Y. and Rahman, S.A. and Wu, S. and Li, G. and Rüschendorf, F. and Zhao, L. and Cui, H. and Liang, J. and Fang, L. and Hu, H. and Froehler, S. and Yu, Y. and Patone, G. and Hummel, O. and Chen, Q. and Raile, K. and Luft, F.C. and Bähring, S. and Hussain, K. and Chen, W. and Zhang, J. and Gong, M.
Journal of Genetics and Genomics 47 (10): 618-626. 20 October 2020

A human ESC-based screen identifies a role for the translated lncRNA LINC00261 in pancreatic endocrine differentiation.
Gaertner, B. and van Heesch, S. and Schneider-Lunitz, V. and Schulz, J.F. and Witte, F. and Blachut, S. and Nguyen, S. and Wong, R. and Matta, I. and Hübner, N. and Sander, M.
eLife 9 : e58659. 3 August 2020

Phosphodiesterase 3A and arterial hypertension.
Ercu, M. and Markó, L. and Schächterle, C. and Tsvetkov, D. and Cui, Y. and Maghsodi, S. and Bartolomaeus, T.U.P. and Maass, P.G. and Zühlke, K. and Gregersen, N. and Hübner, N. and Hodge, R. and Mühl, A. and Pohl, B. and Molé-Illas, R. and Geelhaar, A. and Walter, S. and Napieczynska, H. and Schelenz, S. and Taube, M. and Heuser, A. and Anistan, Y.M. and Qadri, F. and Todiras, M. and Plehm, R. and Popova, E. and Langanki, R. and Eichhorst, J. and Lehmann, M. and Wiesner, B. and Russwurm, M. and Forslund, S.K. and Kamer, I. and Müller, D.N. and Gollasch, M. and Aydin, A. and Bähring, S. and Bader, M. and Luft, F.C. and Klussmann, E.
Circulation 142 (2): 133-149. 14 July 2020

Age-of-onset information helps identify 76 genetic variants associated with allergic disease.
Ferreira, M.A.R. 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, Vi. and Lu, Y. and Grosche, S. and Rüschendorf, F. and Granell, R. and Brumpton, B.M. and Fritsche, L.G. and Bhatta, L. and Gabrielsen, M.E. 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 Emami, N.C. and Cavazos, T.B. and Witte, J.S. and Szwajda, A. and Hinds, D.A. and Hübner, N. and Weidinger, S. and Magnusson, P.K. and Jorgenson, E. and Karlsson, R. and Paternoster, L. and Boomsma, D.I. and Almqvist, C. and Lee, Y.A. and Koppelman, G.H.
PLoS Genetics 16 (6): e1008725. 30 June 2020

SARS-CoV-2 entry factors are highly expressed in nasal epithelial cells together with innate immune genes.
Sungnak, W. and Huang, N. and Bécavin, C. and Berg, M. and Queen, R. and Litvinukova, M. and Talavera-López, C. and Maatz, H. and Reichart, D. and Sampaziotis, F. and Worlock, K.B. and Yoshida, M. and Barnes, J.L.
Nature Medicine 26 (5): 681-687. May 2020

Impulsivity is a heritable trait in rodents and associated with a novel quantitative trait locus on chromosome 1.
Jupp, B. and Pitzoi, S. and Petretto, E. and Mar, A.C. and Oliver, Y.P. and Jordan, E.R. and Taylor, S. and Atanur, S.S. and Srivastava, P.K. and Saar, K. and Hubner, N. and Sommer, W.H. and Staehlin, O. and Spanagel, R. and Robinson, E.S. and Schumann, G. and Moreno, M. and Everitt, B.J. and Robbins, T.W. and Aitman, T.J. and Dalley, J.W.
Scientific Reports 10 (1): 6684. 21 April 2020

Ribosome profiling at isoform level reveals evolutionary conserved impacts of differential splicing on the proteome.
Reixachs-Solé, M. and Ruiz-Orera, J. and Albà, M.M. and Eyras, E.
Nature Communications 11 (1): 1768. 14 April 2020

Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue.
Grunwald, S.A. and Popp, O. and Haafke, S. and Jedraszczak, N. and Grieben, U. and Saar, K. and Patone, G. and Kress, W. and Steinhagen-Thiessen, E. and Dittmar, G. and Spuler, S.
Scientific Reports 10 : 2158. 7 February 2020

Impaired endothelium-mediated cerebrovascular reactivity promotes anxiety and respiration disorders in mice.
Wenzel, J. and Hansen, C.E. and Bettoni, C. and Vogt, M.A. and Lembrich, B. and Natsagdorj, R. and Huber, G. and Brands, J. and Schmidt, K. and Assmann, J.C. and Stölting, I. and Saar, K. and Sedlacik, J. and Fiehler, J. and Ludewig, P. and Wegmann, M. and Feller, N. and Richter, M. and Müller-Fielitz, H. and Walther, T. and König, G.M. and Kostenis, E. and Raasch, W. and Hübner, N. and Gass, P. and Offermanns, S. and de Wit, C. and Wagner, C.A. and Schwaninger, M.
Proceedings of the National Academy of Sciences of the United States of America 117 (3): 1753-1761. 21 January 2020

Novel loss-of-function variants in CDC14A are associated with recessive sensorineural hearing loss in Iranian and Pakistani patients.
Doll, J. and Kolb, S. and Schnapp, L. and Rad, A. and Rüschendorf, F. and Khan, I. and Adli, A. and Hasanzadeh, A. and Liedtke, D. and Knaup, S. and Hofrichter, M.A. and Müller, T. and Dittrich, M. and Kong, I.K. and Kim, H.G. and Haaf, T. and Vona, B.
International Journal of Molecular Sciences 21 (1): 311. 2 January 2020

Telmisartan prevents development of obesity and normalizes hypothalamic lipid droplets.
Rawish, E. and Nickel, L. and Schuster, F. and Stoelting, I. and Frydrychowicz, A. and Saar, K. and Hübner, N. and Othman, A. and Kuerschner, L. and Raasch, W.
Journal of Endocrinology 244 (1): 95-110. January 2020

deltaTE: detection of translationally regulated genes by integrative analysis of Ribo-seq and RNA-seq data.
Chothani, S. and Adami, E. and Ouyang, J.F. and Viswanathan, S. and Hubner, N. and Cook, S.A. and Schafer, S. and Rackham, O.J.L.
Current Protocols in Molecular Biology 129 (1): e108. December 2019

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim, H.G. and Rosenfeld, J.A. and Scott, D.A. and Bénédicte, G. and Labonne, J.D. and Brown, J. and McGuire, M. and Mahida, S. and Naidu, S. and Gutierrez, J. and Lesca, G. and des Portes, V. and Bruel, A.L. and Sorlin, A. and Xia, F. and Capri, Y. and Muller, E. and McKnight, D. and Torti, E. and Rüschendorf, F. and Hummel, O. and Islam, Z. and Kolatkar, P.R. and Layman, L.C. and Ryu, D. and Kong, I.K. and Madan-Khetarpal, S. and Kim, C.H.
Molecular Autism 10 : 35. 22 October 2019

Widespread translational control of fibrosis in the human heart by RNA-binding proteins.
Chothani, S. and Schäfer, S. and Adami, E. and Viswanathan, S. and Widjaja, A.A. and Langley, S.R. and Tan, J. and Wang, M. and Quaife, N.M. and Pua, C.J. and D'Agostino, G. and Shekeran, S.G. and George, B.L. and Lim, S. and Cao, E.Y. and van Heesch, S. and Witte, F. and Felkin, L.E. and Christodoulou, E.G. and Dong, J. and Blachut, S. and Patone, G. and Barton, P.J.R. and Hubner, N. and Cook, S.A. and Rackham, O.J.L.
Circulation 140 (11): 937-951. 10 September 2019

WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling.
Chen, H. and Moreno-Moral, A. and Pesce, F. and Devapragash, N. and Mancini, M. and Heng, E.L. and Rotival, M. and Srivastava, P.K. and Harmston, N. and Shkura, K. and Rackham, O.J.L. and Yu, W.P. and Sun, X.M. and Tee, N.G.Z. and Tan, E.L.S. and Barton, P.J.R. and Felkin, L.E. and Lara-Pezzi, E. and Angelini, G. and Beltrami, C. and Pravenec, M. and Schafer, A. and Bottolo, L. and Hubner, N. and Emanueli, C. and Cook, S.A. and Petretto, E.
Nature Communications 10 (1): 3616. 9 August 2019

Mice with a Brd4 mutation represent a new model of nephrocalcinosis.
Gorvin, C.M. and Loh, N.Y. and Stechman, M.J. and Falcone, S. and Hannan, F.M. and Ahmad, B.N. and Piret, S.E. and Reed, A.A.C. and Jeyabalan, J. and Leo, P. and Marshall, M. and Sethi, S. and Bass, P. and Roberts, I. and Sanderson, J. and Wells, S. and Hough, T.A. and Bentley, L. and Christie, P.T. and Simon, M.M. and Mallon, A.M. and Schulz, H. and Cox, R.D. and Brown, M.A. and Huebner, N. and Brown, S.D. and Thakker, R.V.
Journal of Bone and Mineral Research 34 (7): 1324-1335. July 2019

The translational landscape of the human heart.
van Heesch, S. and Witte, F. and Schneider-Lunitz, V. and Schulz, J.F. and Adami, E. and Faber, A. and Kirchner, M. and Maatz, H. and Blachut, S. and Sandmann, C.L. and Kanda, M. and Worth, C.L. and Schafer, S. and Calviello, L. and Merriott, R. and Patone, G. and Hummel, O. and Wyler, E. and Obermayer, B. and Mücke, M. and Lindberg, E.L. and Trnka, F. and Memczak, S. and Schilling, M. and Felkin, L.E. and Barton, P.J.R. and Quaife, N.M. and Vanezis, K. and Diecke, S. and Mukai, M. and Mah, N. and Oh, S.J. and Kurtz, A. and Schramm, C. and Schwinge, D. and Sebode, M. and Harakalova, M. and Asselbergs, F.W. and Vink, A. and de Weger, R.A. and Viswanathan, S. and Widjaja, A.A. and Gärtner-Rommel, A. and Milting, H. and Dos Remedios, C. and Knosalla, C. and Mertins, P. and Landthaler, M. and Vingron, M. and Linke, W.A. and Seidman, J.G. and Seidman, C.E. and Rajewsky, N. and Ohler, U. and Cook, S.A. and Hubner, N.
Cell 178 (1): 242-260. 27 June 2019

Linkage evidence for a two-locus inheritance of LQT-associated seizures in a multigenerational LQT family with a novel KCNQ1 loss-of-function mutation.
Prüss, H. and Gessner, G. and Heinemann, S.H. and Rüschendorf, F. and Ruppert, A.K. and Schulz, H. and Sander, T. and Rimpau, W.
Frontiers in Neurology 10 : 648. June 2019

SarcTrack: an adaptable software tool for efficient large-scale analysis of sarcomere function in hiPSC-cardiomyocytes.
Toepfer, C.N. and Sharma, A. and Cicconet, M. and Garfinkel, A.C. and Mücke, M. and Neyazi, M. and Willcox, J.A.L. and Agarwal, R. and Schmid, M. and Rao, J. and Ewoldt, J. and Pourquié, O. and Chopra, A. and Chen, C.S. and Seidman, J.G. and Seidman, C.E.
Circulation Research 124 (8): 1172-1183. 12 April 2019

Autocrine LTA signaling drives NF-κB and JAK-STAT activity and myeloid gene expression in Hodgkin lymphoma.
von Hoff, L. and Kärgel, E. and Franke, V. and McShane, E. and Schulz-Beiss, K.W. and Patone, G. and Schleussner, N. and Kolesnichenko, M. and Hübner, N. and Daumke, O. and Selbach, M. and Akalin, A. and Mathas, S. and Scheidereit, C.
Blood 133 (13): 1489-1494. 28 March 2019

An N-ethyl-N-nitrosourea (ENU)-induced Tyr265Stop mutation of the DNA polymerase accessory subunit gamma 2 (Polg2) is associated with renal calcification in mice.
Gorvin, C.M. and Ahmad, B.N. and Stechman, M.J. and Loh, N.Y. and Hough, T.A. and Leo, P. and Marshall, M. and Sethi, S. and Bentley, L. and Piret, S.E. and Reed, A. and Jeyabalan, J. and Christie, P.T. and Wells, S. and Simon, M.M. and Mallon, A.M. and Schulz, H. and Huebner, N. and Brown, M.A. and Cox, R.D. and Brown, S.D. and Thakker, R.V.
Journal of Bone and Mineral Research 34 (3): 497-507. March 2019

Eleven loci with new reproducible genetic associations with allergic disease risk.
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 Lu, Y. and Rüschendorf, F. and Hinds, D.A. and Hübner, N. and Weidinger, S. and Magnusson, P.K. and Jorgenson, E. and Lee, Y.A. and Boomsma, D.I. and Karlsson, R. and Almqvist, C. and Koppelman, G.H. and Paternoster, L.
Journal of Allergy and Clinical Immunology 143 (2): 691-699. February 2019

E47 modulates hepatic glucocorticoid action.
Hemmer, M.C. and Wierer, M. and Schachtrup, K. and Downes, M. and Hübner, N. and Evans, R.M. and Uhlenhaut, N.H.
Nature Communications 10 (1): 306. 18 January 2019

An integrated understanding of the molecular mechanisms how adipose tissue metabolism affects long-term body weight maintenance.
Mai, K. and Li, L. and Wiegand, S. and Brachs, M. and Leupelt, V. and Ernert, A. and Kühnen, P. and Hübner, N. and Robinson, P. and Chen, W. and Krude, H. and Spranger, J.
Diabetes 68 (1): 57-65. 1 January 2019

Telmisartan prevents diet-induced obesity and preserves leptin transport across the blood-brain barrier in high-fat diet-fed mice.
Schuster, F. and Huber, G. and Stölting, I. and Wing, E.E. and Saar, K. and Hübner, N. and Banks, W.A. and Raasch, W.
Pflugers Archiv 470 (11): 1673-1689. November 2018

Thyroid cancer cells in space during the TEXUS-53 sounding rocket mission - The THYROID Project.
Kopp, S. and Krüger, M. and Feldmann, S. and Oltmann, H. and Schütte, A. and Schmitz, B. and Bauer, J. and Schulz, H. and Saar, K. and Hübner, N. and Wehland, M. and Nassef, M.Z. and Melnik, D. and Meltendorf, S. and Infanger, M. and Grimm, D.
Scientific Reports 8 (1): 10355. 9 July 2018

Pathway analysis hints towards beneficial effects of long-term vibration on human chondrocytes.
Lützenberg, R. and Solano, K. and Buken, C. and Sahana, J. and Riwaldt, S. and Kopp, S. and Krüger, M. and Schulz, H. and Saar, K. and Huebner, N. and Hemmersbach, R. and Bauer, J. and Infanger, M. and Grimm, D. and Wehland, M.
Cellular Physiology and Biochemistry 47 (4): 1729-1741. 28 June 2018

Nrf2-mediated antioxidant defense and peroxiredoxin 6 are linked to biosynthesis of palmitic acid ester of 9-hydroxystearic acid.
Kuda, O. and Brezinova, M. and Silhavy, J. and Landa, V. and Zidek, V. and Dodia, C. and Kreuchwig, F. and Vrbacky, M. and Balas, L. and Durand, T. and Hübner, N. and Fisher, A.B. and Kopecky, J. and Pravenec, M.
Diabetes 67 (6): 1190-1199. June 2018

A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma.
Asai, Y. and Eslami, A. and van Ginkel, C.D. and Akhabir, L. and Wan, M. and Yin, D. and Ellis, G. and Ben-Shoshan, M. and Marenholz, I. and Martino, D. and Ferreira, M.A. and Allen, K. and Mazer, B. and de Groot, H. and de Jong, N.W. and Gerth van Wijk, R. and Dubois, A.E.J. and Grosche, S. and Ashley, S. and Rüschendorf, F. and Kalb, B. and Beyer, K. and Nöthen, M.M. and Lee, Y.A. and Chin, R. and Cheuk, S. and Hoffman, J. and Jorgensen, E. and Witte, J.S. and Melles, R.B. and Hong, X. and Wang, X. and Hui, J. and Musk, A.W.B. and Hunter, M. and James, A.L. and Koppelman, G.H. and Sandford, A.J. and Clarke, A.E. and Daley, D.
Journal of Allergy and Clinical Immunology 141 (4): 1513-1516. April 2018

Human induced pluripotent stem cell production and expansion from blood using a non-integrating viral reprogramming vector.
Sharma, A. and Mücke, M. and Seidman, C.E.
Current Protocols in Molecular Biology 122 (1): e58. April 2018

Brain region-specific expression of genes mapped within quantitative trait loci for behavioral responsiveness to acute stress in Fisher 344 and Wistar Kyoto male rats.
Meckes, J.K. and Lim, P.H. and Wert, S.L. and Luo, W. and Gacek, S.A. and Platt, D. and Jankord, R. and Saar, K. and Redei, E.E.
PLoS ONE 13 (3): e0194293. 12 March 2018

The role of NFκB in spheroid formation of human breast cancer cells cultured on the Random Positioning Machine.
Kopp, S. and Sahana, J. and Islam, T. and Petersen, A.G. and Bauer, J. and Corydon, T.J. and Schulz, H. and Saar, K. and Huebner, N. and Slumstrup, L. and Riwaldt, S. and Wehland, M. and Infanger, M. and Luetzenberg, R. and Grimm, D.
Scientific Reports 8 (1): 921. 17 January 2018

IL11 is a crucial determinant of cardiovascular fibrosis.
Schafer, S. and Viswanathan, S. and Widjaja, A.A. and Lim, W.W. and Moreno-Moral, A. and DeLaughter, D.M. and Ng, B. and Patone, G. and Chow, K. and Khin, E. and Tan, J. and Chothani, S.P. and Ye, L. and Rackham, O.J. and Ko, N.S. and Sahib, N.E. and Pua, C.J. and Zhen, N.T. and Xie, C. and Wang, M. and Maatz, H. and Lim, S. and Saar, K. and Blachut, S. and Petretto, E. and Schmidt, S. and Putoczki, T. and Guimarães-Camboa, N. and Wakimoto, H. and van Heesch, S. and Sigmundsson, K. and Lim, S.L. and Soon, J.L. and Chao, V.T. and Chua, Y.L. and Tan, T.E. and Evans, S.M. and Loh, Y.J. and Jamal, M.H. and Ong, K.K. and Chua, K.C. and Ong, B.H. and Chakaramakkil, M.J. and Seidman, J.G. and Seidman, C.E. and Hubner, N. and Sin, K.Y. and Cook, S.A.
Nature 552 (7683): 110-115. 7 December 2017

Transmembrane helix connectivity in Orai1 controls two gates for calcium-dependent transcription.
Frischauf, I. and Litviňuková, M. and Schober, R. and Zayats, V. and Svobodova, B. and Bonhenry, D. and Lunz, V. and Cappello, S. and Tociu, L. and Reha, D. and Stallinger, A. and Hochreiter, A. and Pammer, T. and Butorac, C. and Muik, M. and Groschner, K. and Bogeski, I. and Ettrich, R.H. and Romanin, C. and Schindl, R.
Science Signaling 10 (507): eaao0358. 28 November 2017

Cardiac myocyte miR-29 promotes pathological remodeling of the heart by activating Wnt signaling.
Sassi, Y. and Avramopoulos, P. and Ramanujam, D. and Grüter, L. and Werfel, S. and Giosele, S. and Brunner, A.D. and Esfandyari, D. and Papadopoulou, A.S and De Strooper, B. and Hübner, N. and Kumarswamy, R. and Thum, T. and Yin, X. and Mayr, M. and Laggerbauer, B. and Engelhardt, S.
Nature Communications 8 (1): 1614. 20 November 2017

Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy.
Marenholz, I. and Grosche, S. and Kalb, B. and Rüschendorf, F. and Blümchen, K. and Schlags, R. and Harandi, N. and Price, M. and Hansen, G. and Seidenberg, J. and Röblitz, H. and Yürek, S. and Tschirner, S. and Hong, X. and Wang, X. and Homuth, G. and Schmidt, C.O. and Nöthen, M.M. and Hübner, N. and Niggemann, B. and Beyer, K. and Lee, Y.A.
Nature Communications 8 (1): 1056. 20 October 2017

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.
Heinig, M. and Adriaens, M.E. and Schafer, S. and van Deutekom, H.W.M. and Lodder, E.M. and Ware, J.S. and Schneider, V. and Felkin, L.E. and Creemers, E.E. and Meder, B. and Katus, H.A. and Rühle, F. and Stoll, M. and Cambien, F. and Villard, E. and Charron, P. and Varro, A. and Bishopric, N.H. and George, A.L. and Dos Remedios, C. and Moreno-Moral, A. and Pesce, F. and Bauerfeind, A. and Rüschendorf, F. and Rintisch, C. and Petretto, E. and Barton, P.J. and Cook, S.A. and Pinto, Y.M. and Bezzina, C.R. and Hubner, N.
Genome Biology 18 (1): 170. 14 September 2017

Rattus norvegicus BN/SHR liver and heart left ventricle ribosomal RNA depleted directional RNA sequencing.
Wyler, E. and van Heesch, S. and Adami, E. and Hubner, N. and Landthaler, M.
BMC Research Notes 10 (1): 395. 11 August 2017

Human iPSC-derived neural progenitors are an effective drug discovery model for neurological mtDNA disorders.
Lorenz, C. and Lesimple, P. and Bukowiecki, R. and Zink, A. and Inak, G. and Mlody, B. and Singh, M. and Semtner, M. and Mah, N. and Auré, K. and Leong, M. and Zabiegalov, O. and Lyras, E.M. and Pfiffer, V. and Fauler, B. and Eichhorst, J. and Wiesner, B. and Huebner, N. and Priller, J. and Mielke, T. and Meierhofer, D. and Izsvák, Z. and Meier, J.C. and Bouillaud, F. and Adjaye, J. and Schuelke, M. and Wanker, E.E. and Lombès, A. and Prigione, A.
Cell Stem Cell 20 (5): 659-674.e9. 4 May 2017

Tumour ischaemia by interferon-γ resembles physiological blood vessel regression.
Kammertoens, T. and Friese, C. and Arina, A. and Idel, C. and Briesemeister, D. and Rothe, M. and Ivanov, A. and Szymborska, A. and Patone, G. and Kunz, S. and Sommermeyer, D. and Engels, B. and Leisegang, M. and Textor, A. and Fehling, H.J. and Fruttiger, M. and Lohoff, M. and Herrmann, A. and Yu, H. and Weichselbaum, R. and Uckert, W. and Hübner, N. and Gerhardt, H. and Beule, D. and Schreiber, H. and Blankenstein, T.
Nature 545 (7652): 98-102. 4 May 2017

Transcriptome-wide identification of RNA-binding protein binding sites using photoactivatable-ribonucleoside-enhanced crosslinking immunoprecipitation (PAR-CLIP).
Maatz, H. and Kolinski, M. and Hubner, N. and Landthaler, M.
Current Protocols in Molecular Biology 118 : 27.6.1-27.6.19. 3 April 2017

Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive rat.
Coan, P.M. and Hummel, O. and Diaz, A.I.G. and Barrier, M. and Alfazema, N. and Norsworthy, P.J. and Pravenec, M. and Petretto, E. and Hübner, N. and Aitman, T.J.
Disease Models & Mechanisms 10 (3): 297-306. 1 March 2017

Transcriptome-wide co-expression analysis identifies LRRC2 as a novel mediator of mitochondrial and cardiac function.
McDermott-Roe, C. and Leleu, M. and Rowe, G.C. and Palygin, O. and Bukowy, J.D. and Kuo, J. and Rech, M. and Hermans-Beijnsberger, S. and Schaefer, S. and Adami, E. and Creemers, E.E. and Heinig, M. and Schroen, B. and Arany, Z. and Petretto, E. and Geurts, A.M.
PLoS ONE 12 (2): e0170458. 3 February 2017

Adverse left ventricular remodeling by glycoprotein nonmetastatic melanoma protein B in myocardial infarction.
Järve, A. and Mühlstedt, S. and Qadri, F. and Nickl, B. and Schulz, H. and Hübner, N. and Özcelik, C. and Bader, M.
FASEB Journal 31 (2): 556-568. February 2017

Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.
Middelkamp, S. and van Heesch, S. and Braat, A.K. and de Ligt, J. and van Iterson, M. and Simonis, M. and van Roosmalen, M.J. and Kelder, M.J.E. and Kruisselbrink, E. and Hochstenbach, R. and Verbeek, N.E. and Ippel, E.F. and Adolfs, Y. and Pasterkamp, R.J. and Kloosterman, W.P. and Kuijk, E.W. and Cuppen, E.
Genome Medicine 9 (1): 9. 26 January 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

Epigenetics and control of RNAs.
Maatz, H. and van Heesch, S. and Kreuchwig, F. and Faber, A. and Adami, E. and Hubner, N. and Heinig, M.
Methods in Molecular Biology 1488 : 217-237. 2017

The Slavic NBN founder mutation: a role for reproductive fitness?
Seemanova, E. and Varon, R. and Vejvalka, J. and Jarolim, P. and Seeman, P. and Chrzanowska, K.H. and Digweed, M. and Resnick, I. and Kremensky, I. and Saar, K. and Hoffmann, K. and Dutrannoy, V. and Karbasiyan, M. and Ghani, M. and Baric, I. and Tekin, M. and Kovacs, P. and Krawczak, M. and Reis, A. and Sperling, K. and Nothnagel, M.
PLoS ONE 11 (12): e0167984. 9 December 2016

A mutation in the glutamate-rich region of RBM20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.
Beqqali, A. and Bollen, I.A.E. and Rasmussen, T.B. and van den Hoogenhof, M.M. and van Deutekom, H.W.M. and Schafer, S. and Haas, J. and Meder, B. and Sorensen, K.E. and van Oort, R.J. and Mogensen, J. and Hubner, N. and Creemers, E.E. and van der Velden, J. and Pinto, Y.M.
Cardiovascular Research 112 (1): 452-463. 1 October 2016

52 genetic loci influencing myocardial mass.
van der Harst, P. and van Setten, J. and Verweij, N. and Vogler, G. and Franke, L. and Maurano, M.T. and Wang, X. and Mateo Leach, I. and Eijgelsheim, M. and Sotoodehnia, N. and Hayward, C. and Sorice, R. and Meirelles, O. and Lyytikaeinen, L.P. and Polašek, O. and Tanaka, T. and Arking, D.E. and Ulivi, S. and Trompet, S. and Mueller-Nurasyid, M. and Smith, A.V. and Dörr, M. and Kerr, K.F. and Magnani, J.W. and Del Greco, M.F. and Zhang, W. and Nolte, I.M. and Silva, C.T. and Padmanabhan, S. and Tragante, V. and Esko, T. and Abecasis, G.R. and Adriaens, M.E. and Andersen, K. and Barnett, P. and Bis, J.C. and Bodmer, R. and Buckley, B.M. and Campbell, H. and Cannon, M.V. and Chakravarti, A. and Chen, L.Y. and Delitala, A. and Devereux, R.B. and Doevendans, P.A. and Dominiczak, A.F. and Ferrucci, L. and Ford, I. and Gieger, C. and Harris, T.B. and Haugen, E. and Heinig, M. and Hernandez, D.G. and Hillege, H.L. and Hirschhorn, J.N. and Hofman, A. and Hubner, N. and Hwang, S.J. and Iorio, A. and Kaehoenen, M. and Kellis, M. and Kolcic, I. and Kooner, Is.K. and Kooner, J.S. and Kors, J.A. and Lakatta, E.G. and Lage, K. and Launer, L.J. and Levy, D. and Lundby, A. and Macfarlane, P.W. and May, D. and Meitinger, T. and Metspalu, A. and Nappo, S. and Naitza, S. and Neph, S. and Nord, A.S. and Nutile, T. and Okin, P.M. and Olsen, J.V. and Oostra, B.A. and Penninger, J.M. and Pennacchio, L.A. and Pers, T.H. and Perz, S. and Peters, A. and Pinto, Y.M. and Pfeufer, A. and Pilia, M.G. and Pramstaller, P.P. and Prins, B.P. and Raitakari, O.T. and Raychaudhuri, S. and Rice, K.M. and Rossin, E.J. and Rotter, J.I. and Schaefer, S. and Schlessinger, D. and Schmidt, C.O. and Sehmi, J. and Sillje, H.H.W. and Sinagra, G. and Sinner, M.F. and Slowikowski, K. and Soliman, E.Z. and Spector, T.D. and Spiering, W. and Stamatoyannopoulos, J.A. and Stolk, R.P. and Strauch, K. and Tan, S.T. and Tarasov, K.V. and Trinh, B. and Uitterlinden, A.G. and van den Boogaard, M. and van Duijn, C.M. and van Gilst, W.H. and Viikari, J.S. and Visscher, P.M. and Vitart, V. and Völker, U. and Waldenberger, M. and Weichenberger, C.X. and Westra, H.J. and Wijmenga, C. and Wolffenbuttel, B.H. and Yang, J. and Bezzina, C.R. and Munroe, P.B. and Snieder, H. and Wright, A.F. and Rudan, I. and Boyer, L.A. and Asselbergs, F.W. and van Veldhuisen, D.J. and Stricker, B.H. and Psaty, B.M. and Ciullo, M. and Sanna, S. and Lehtimäki, T. and Wilson, J.F. and Bandinelli, S. and Alonso, A. and Gasparini, P. and Jukema, J.W. and Kääb, S. and Gudnason, V. and Felix, S.B. and Heckbert, S.R. and de Boer, R.A. and Newton-Cheh, C. and Hicks, A.A. and Chambers, J.C. and Jamshidi, Y. and Visel, A. and Christoffels, V.M. and Isaacs, A. and Samani, N.J. and de Bakker, P.I.W.
Journal of the American College of Cardiology 68 (13): 1435-1448. 27 September 2016

Association of TMTC2 with human nonsyndromic sensorineural hearing loss.
Runge, C.L. and Indap, A. and Zhou, Y. and Kent, J.W. and King, E. and Erbe, C.B. and Cole, R. and Littrell, J. and Merath, K. and James, R. and Rüschendorf, F. and Kerschner, J.E. and Marth, G. and Hübner, N. and Göring, H.H.H. and Friedland, D.R. and Kwok, W.M. and Olivier, M.
JAMA Otolaryngology Head & Neck Surgery 142 (9): 866-872. 1 September 2016

Transcriptional profiling of regenerating embryonic mouse hearts.
Magarin, M. and Schulz, H. and Thierfelder, L. and Drenckhahn, J.D.
Genomics Data 9 : 145-147. September 2016

Embryonic cardiomyocytes can orchestrate various cell protective mechanisms to survive mitochondrial stress.
Magarin, M. and Pohl, T. and Lill, A. and Schulz, H. and Blaschke, F. and Heuser, A. and Thierfelder, L. and Donath, S. and Drenckhahn, J.D.
Journal of Molecular and Cellular Cardiology 97 : 1-14. August 2016

Human engineered heart tissue: analysis of contractile force.
Mannhardt, I. and Breckwoldt, K. and Letuffe-Brenière, D. and Schaaf, S. and Schulz, H. and Neuber, C. and Benzin, A. and Werner, T. and Eder, A. and Schulze, T. and Klampe, B. and Christ, T. and Hirt, M.N. and Huebner, N. and Moretti, A. and Eschenhagen, T. and Hansen, A.
Stem Cell Reports 7 (1): 29-42. 12 July 2016

Wars2 is a determinant of angiogenesis.
Wang, M. and Sips, P. and Khin, E. and Rotival, M. and Sun, X. and Ahmed, R. and Widjaja, A.A. and Schafer, S. and Yusoff, P. and Choksi, Pe.K. and Ko, N.S.J. and Singh, M.K. and Epstein, D. and Guan, Y. and Houštěk, J. and Mracek, T. and Nuskova, H. and Mikell, B. and Tan, J. and Pesce, F. and Kolar, F. and Bottolo, L. and Mancini, M. and Hubner, N. and Pravenec, M. and Petretto, E. and MacRae, C. and Cook, S.A.
Nature Communications 7 : 12061. 8 July 2016

ANP system activity predicts variability of fat mass reduction and insulin sensitivity during weight loss.
Brachs, M. and Wiegand, S. and Leupelt, V. and Ernert, A. and Kintscher, U. and Jumpertz von Schwarzenberg, R. and Decker, A.M. and Bobbert, T. and Hübner, N. and Chen, W. and Krude, H. and Spranger, J. and Mai, K.
Metabolism 65 (6): 935-943. June 2016

Von Willebrand factor gene variants associate with herpes simplex encephalitis.
Abdelmagid, N. and Bereczky-Veress, B. and Atanur, S. and Musilová, A. and Zidek, V. and Saba, L. and Warnecke, A. and Khademi, M. and Studahl, M. and Aurelius, E. and Hjalmarsson, A. and Garcia-Diaz, A. and Denis, C.V. and Bergström, T. and Sköldenberg, B. and Kockum, I. and Aitman, T. and Hübner, N. and Olsson, T. and Pravenec, M. and Diez, M.
PLoS ONE 11 (5): e0155832. 25 May 2016

A roadmap of constitutive NF-κB activity in Hodgkin lymphoma: dominant roles of p50 and p52 revealed by genome-wide analyses.
de Oliveira, K.A.P. and Kaergel, E. and Heinig, M. and Fontaine, J.F. and Patone, G. and Muro, E.M. and Mathas, S. and Hummel, M. and Andrade-Navarro, M.A. and Hübner, N. and Scheidereit, C.
Genome Medicine 8 (1): 28. 17 March 2016

Systems genetics analysis of a recombinant inbred mouse cell culture panel reveals Wnt pathway member Lrp6 as a regulator of adult hippocampal precursor cell proliferation.
Kannan, S. and Nicola, Z. and Overall, R.W. and Ichwan, M. and Ramírez-Rodríguez, G. and Grzyb, A. and Patone, G. and Saar, K. and Hübner, N. and Kempermann, G.
Stem Cells 34 (3): 674-684. March 2016

Ndufc2 gene inhibition is associated with mitochondrial dysfunction and increased stroke susceptibility in an animal model of complex human disease.
Rubattu, S. and Di Castro, S. and Schulz, H. and Geurts, A.M. and Cotugno, M. and Bianchi, F. and Maatz, H. and Hummel, O. and Falak, S. and Stanzione, R. and Marchitti, S. and Scarpino, S. and Giusti, B. and Kura, A. and Gensini, G.F. and Peyvandi, F. and Mannucci, P.M. and Rasura, M. and Sciarretta, S. and Dwinell, M.R. and Hubner, N. and Volpe, M.
Journal of the American Heart Association 5 (2): e00270. 17 February 2016

Genome-wide polyadenylation maps reveal dynamic mRNA 3'-end formation in the failing human heart.
Creemers, E.E. and Bawazeer, A. and Ugalde, A.P. and van Deutekom, H.W.M. and van der Made, I. and de Groot, N.E. and Adriaens, M.E. and Cook, S.A. and Bezzina, C.R. and Hubner, N. and van der Velden, J. and Elkon, R. and Agami, R. and Pinto, Y.M.
Circulation Research 118 (3): 433-438. 5 February 2016

DNA methylation in an engineered heart tissue model of cardiac hypertrophy: common signatures and effects of DNA methylation inhibitors.
Stenzig, J. and Hirt, M.N. and Löser, A. and Bartholdt, L.M. and Hensel, J.T. and Werner, T.R. and Riemenschneider, M. and Indenbirken, D. and Guenther, T. and Müller, C. and Hübner, N. and Stoll, M. and Eschenhagen, T.
Basic Research in Cardiology 111 (1): 9. January 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

Meta-analysis identifies seven susceptibility loci involved in the atopic march.
Marenholz, I. and Esparza-Gordillo, J. and Rüschendorf, F. and Bauerfeind, A. and Strachan, D.P. and Spycher, B.D. and Baurecht, H. and Margaritte-Jeannin, P. and Sääf, A. and Kerkhof, M. and Ege, M. and Baltic, S. and Matheson, M.C. and Li, J. and Michel, S. and Ang, W.Q. and McArdle, W. and Arnold, A. and Homuth, G. and Demenais, F. and Bouzigon, E. and Söderhäll, C. and Pershagen, G. and de Jongste, J.C. and Postma, D.S. and Braun-Fahrlaender, C. and Horak, E. and Ogorodova, L.M. and Puzyrev, V.P. and Bragina, E.Y. and Hudson, T.J. and Morin, C. and Duffy, D.L. and Marks, G.B. and Robertson, C.F. and Montgomery, G.W. and Musk, B. and Thompson, P.J. and Martin, N.G. and James, A. and Sleiman, P. and Toskala, E. and Rodriguez, E. and Fölster-Holst, R. and Franke, A. and Lieb, W. and Gieger, C. and Heinzmann, A. and Rietschel, E. and Keil, T. and Cichon, S. and Nöthen, M.M. and Pennell, C.E. and Sly, P.D. and Schmidt, C.O. and Matanovic, A. and Schneider, V. and Heinig, M. and Hübner, N. and Holt, P.G. and Lau, S. and Kabesch, M. and Weidinger, S. and Hakonarson, H. and Ferreira, M.A.R. and Laprise, C. and Freidin, M.B. and Genuneit, J. and Koppelman, G.H. and Melén, E. and Dizier, M.H. and Henderson, A.J. and Lee, Y.A.
Nature Communications 6 : 8804. 6 November 2015

High salt reduces the activation of IL-4- and IL-13-stimulated macrophages.
Binger, K.J. and Gebhardt, M. and Heinig, M. and Rintisch, C. and Schroeder, A. and Neuhofer, W. and Hilgers, K. and Manzel, A. and Schwartz, C. and Kleinewietfeld, M. and Voelkl, J. and Schatz, V. and Linker, R.A. and Lang, F. and Voehringer, D. and Wright, M.D. and Hubner, N. and Dechend, R. and Jantsch, J. and Titze, J. and Müller, D.N.
Journal of Clinical Investigation 125 (11): 4223-4238. 2 November 2015

Complement receptor 2 is up regulated in the spinal cord following nerve root injury and modulates the spinal cord response.
Lindblom, R.P.F. and Berg, A. and Ström, M. and Aeinehband, S. and Dominguez, C.A. and Al Nimer, F. and Abdelmagid, N. and Heinig, M. and Zelano, J. and Harnesk, K. and Hübner, N. and Nilsson, B. and Ekdahl, K.N. and Diez, M. and Cullheim, S. and Piehl, F.
Journal of Neuroinflammation 12 : 192. 26 October 2015

Alternative splicing signatures in RNA-seq data: percent spliced in (PSI).
Schafer, S. and Miao, K. and Benson, C.C. and Heinig, M. and Cook, S.A. and Hubner, N.
Current Protocols in Human Genetics 87 : 11.16.1-11.16.14. 6 October 2015

Novel candidate genes for impaired nephron development in a rat model with inherited nephron deficit and albuminuria.
Herlan, L. and Schulz, A. and Schulte, L. and Schulz, H. and Hübner, N. and Kreutz, R.
Clinical and Experimental Pharmacology and Physiology 42 (10): 1051-1058. October 2015

The GYF domain protein CD2BP2 is critical for embryogenesis and podocyte function.
Albert, G.I. and Schell, C. and Kirschner, K.M. and Schäfer, S. and Naumann, R. and Müller, A. and Kretz, O. and Kuropka, B. and Girbig, M. and Hübner, N. and Krause, E. and Scholz, H. and Huber, T.B. and Knobeloch, K.P. and Freund, C.
Journal of Molecular Cell Biology 7 (5): 402-414. October 2015

ZBTB17 (MIZ1) is important for the cardiac stress response and a novel candidate gene for cardiomyopathy and heart failure.
Buyandelger, B. and Mansfield, C. and Kostin, S. and Choi, O. and Roberts, A.M. and Ware, J.S. and Mazzarotto, F. and Pesce, F. and Buchan, R. and Isaacson, R.L. and Vouffo, J. and Gunkel, S. and Knoell, G. and McSweeney, S.J. and Wei, H. and Perrot, A. and Pfeiffer, C. and Toliat, M.R. and Ilieva, K. and Krysztofinska, E. and López-Olañeta, M.M. and Gómez-Salinero, J.M. and Schmidt, A. and Ng, K.E. and Teucher, N. and Chen, J. and Teichmann, M. and Eilers, M. and Haverkamp, W. and Regitz-Zagrosek, V. and Hasenfuss, G. and Braun, T. and Pennell, D.J. and Gould, I. and Barton, P.J.R. and Lara-Pezzi, E. and Schäfer, S. and Hübner, N. and Felkin, L.E. and O'Regan, D.P. and Petretto, E. and Brand, T. and Milting, H. and Nürnberg, P. and Schneider, M.D. and Prasad, S. and Knöll, R.
Circulation Cardiovascular Genetics 8 (5): 643-652. October 2015

Gene repositioning within the cell nucleus is not random and is determined by its genomic neighborhood.
Jost, K.L. and Bertulat, B. and Rapp, A. and Brero, A. and Hardt, T. and Domaing, P. and Gösele, C. and Schulz, H. and Hübner, N. and Cardoso, M.C.
Epigenetics & Chromatin 8 : 36. 17 September 2015

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
Hinson, J.T. and Chopra, A. and Nafissi, N. and Polacheck, W.J. and Benson, C.C. and Swist, S. and Gorham, J. and Yang, L. and Schafer, S. and Sheng, C.C. and Haghighi, A. and Homsy, J. and Hubner, N. and Church, G. and Cook, S.A. and Linke, W.A. and Chen, C.S. and Seidman, J.G. and Seidman, C.E.
Science 349 (6251): 982-986. 28 August 2015

Alternatively spliced isoforms of WT1 control podocyte-specific gene expression.
Lefebvre, J. and Clarkson, M. and Massa, F. and Bradford, S.T. and Charlet, A. and Buske, F. and Lacas-Gervais, S. and Schulz, H. and Gimpel, C. and Hata, Y. and Schaefer, F. and Schedl, A.
Kidney International 88 (2): 321-331. August 2015

Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
Budde, B.S. and Mizumoto, S. and Kogawa, R. and Becker, C. and Altmüller, J. and Thiele, H. and Rueschendorf, F. and Toliat, M.R. and Kaleschke, G. and Haemmerle, J.M. and Hoehne, W. and Sugahara, K. and Nuernberg, P. and Kennerknecht, I.
Human Genetics 134 (7): 691-704. July 2015

Genomic redistribution of GR monomers and dimers mediates transcriptional response to exogenous glucocorticoid in vivo.
Lim, H.W. and Uhlenhaut, N.H. and Rauch, A. and Weiner, J. and Hübner, S. and Hübner, N. and Won, K.J. and Lazar, M.A. and Tuckermann, J. and Steger, D.J.
Genome Research 25 (6): 836-844. June 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

Translational regulation shapes the molecular landscape of complex disease phenotypes.
Schafer, S. and Adami, E. and Heinig, M. and Costa Rodrigues, K.E. and Kreuchwig, F. and Silhavy, J. and van Heesch, S. and Simaite, D. and Rajewsky, N. and Cuppen, E. and Pravenec, M. and Vingron, M. and Cook, S.A. and Hubner, N.
Nature Communications 6 : 7200. 26 May 2015

Quantitative interaction proteomics of neurodegenerative disease proteins.
Hosp, F. and Vossfeldt, H. and Heinig, M. and Vasiljevic, D. and Arumughan, A. and Wyler, E. and Landthaler, M. and Hubner, N. and Wanker, E.E. and Lannfelt, L. and Ingelsson, M. and Lalowski, M. and Voigt, A. and Selbach, M.
Cell Reports 11 (7): 1134-1146. 19 May 2015

Genomic landscape of rat strain and substrain variation.
Hermsen, R. and de Ligt, J. and Spee, W. and Blokzijl, F. and Schäfer, S. and Adami, E. and Boymans, S. and Flink, S and van Boxtel, R. and van der Weide, R.H. and Aitman, T. and Hübner, N. and Simonis, M. and Tabakoff, B. and Guryev, V. and Cuppen, E.
BMC Genomics 16 : 357. 6 May 2015

Differential gene expression of human chondrocytes cultured under short-term altered gravity conditions during parabolic flight maneuvers.
Wehland, M. and Aleshcheva, G. and Schulz, H. and Saar, K. and Hübner, N. and Hemmersbach, R. and Braun, M. and Ma, X. and Frett, T. and Warnke, E. and Riwaldt, S. and Pietsch, J. and Corydon, T.J. and Infanger, M. and Grimm, D.
Cell Communication and Signaling 13 (1): 18. 20 March 2015

Maternal filaggrin mutations increase the risk of atopic dermatitis in children: an effect independent of mutation inheritance.
Esparza-Gordillo, J. and Matanovic, A. and Marenholz, I. and Bauerfeind, A. and Rohde, K. and Nemat, K. and Lee-Kirsch, M.A. and Nordenskjöld, M. and Winge, M.C.G. and Keil, T. and Krüger, R. and Lau, S. and Beyer, K. and Kalb, B. and Niggemann, B. and Hübner, N. and Cordell, H.J. and Bradley, M. and Lee, Y.A.
PLoS Genetics 11 (3): e1005076. 10 March 2015

histoneHMM: Differential analysis of histone modifications with broad genomic footprints.
Heinig, M. and Colomé-Tatché, M. and Taudt, A. and Rintisch, C. and Schafer, S. and Pravenec, M. and Hubner, N. and Vingron, M. and Johannes, F.
BMC Bioinformatics 16 : 60. 22 February 2015

Genetic etiology of renal agenesis: fine mapping of renag1 and identification of Kit as the candidate functional gene.
Samanas, N.B. and Commers, T.W. and Dennison, K.L. and Harenda, Q.E. and Kurz, S.G. and Lachel, C.M. and Wavrin, K.L. and Bowler, M. and Nijman, I.J. and Guryev, V. and Cuppen, E. and Hubner, N. and Sullivan, R. and Vezina, C.M. and Shull, J.D.
PLoS ONE 10 (2): e0118147. 18 February 2015

Alternatives Spleißen im Herzen [Alternative splicing in the heart].
Maatz, H. and Heinig, M. and Hübner, N.
BIOspektrum 21 (1): 53-56. February 2015

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.
Roberts, A.M. and Ware, J.S. and Herman, D.S. and Schafer, S. and Baksi, J. and Bick, A.G. and Buchan, R.J. and Walsh, R. and John, S. and Wilkinson, S. and Mazzarotto, F. and Felkin, L.E. and Gong, S. and MacArthur, J.A.L. and Cunningham, F. and Flannick, J. and Gabriel, S.B. and Altshuler, D.M. and Macdonald, P.S. and Heinig, M. and Keogh, A.M. and Hayward, C.S. and Banner, N.R. and Pennell, D.J. and O'Regan, D.P. and San, T.R. and de Marvao, A. and Dawes, T.J.W. and Gulati, A. and Birks, E.J. and Yacoub, M.H. and Radke, M. and Gotthardt, M. and Wilson, J.G. and O'Donnell, C.J. and Prasad, S.K. and Barton, P.J.R. and Fatkin, D. and Hubner, N. and Seidman, J.G. and Seidman, C.E. and Cook, S.A.
Science Translational Medicine 7 (270): 270ra6. 14 January 2015

Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.
Baurecht, H. and Hotze, M. and Brand, S. and Büning, C. and Cormican, P. and Corvin, A. and Ellinghaus, D. and Ellinghaus, E. and Esparza-Gordillo, J. and Fölster-Holst, R. and Franke, A. and Gieger, C. and Hubner, N. and Illig, T. and Irvine, A.D. and Kabesch, M. and Lee, Y.A.E. and Lieb, W. and Marenholz, I. and McLean, W.H.I. and Morris, D.W. and Mrowietz, U. and Nair, R. and Nöthen, M.M. and Novak, N. and O'Regan, G.M. and Schreiber, S. and Smith, C. and Strauch, K. and Stuart, P.E. and Trembath, R. and Tsoi, L.C. and Weichenthal, M. and Barker, J. and Elder, J.T. and Weidinger, S. and Cordell, H.J. and Brown, S.J.
American Journal of Human Genetics 96 (1): 104-120. 8 January 2015

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity.
Günther, C. and Kind, B. and Reijns, M.A.M. and Berndt, N. and Martinez-Bueno, M. and Wolf, C. and Tüngler, V. and Chara, O. and Lee, Y.A. and Hübner, N. and Bicknell, L. and Blum, S. and Krug, C. and Schmidt, F. and Kretschmer, S. and Koss, S. and Astell, K.R. and Ramantani, G. and Bauerfeind, A. and Morris, D.L. and Cunninghame Graham, D.S. and Bubeck, D. and Leitch, A. and Ralston, S.H. and Blackburn, E.A. and Gahr, M. and Witte, T. and Vyse, T.J. and Melchers, I. and Mangold, E. and Nöthen, M.M. and Aringer, M. and Kuhn, A. and Lüthke, K. and Unger, L. and Bley, A. and Lorenzi, A. and Isaacs, J.D. and Alexopoulou, D. and Conrad, K. and Dahl, A. and Roers, A. and Alarcon-Riquelme, M.E. and Jackson, A.P. and Lee-Kirsch, M.A.
Journal of Clinical Investigation 125 (1): 413-424. 2 January 2015

Proteasome inhibition slightly improves cardiac function in mice with hypertrophic cardiomyopathy.
Schlossarek, S. and Singh, S. and Geertz, B. and Schulz, H. and Reischmann, S. and Hübner, N. and Carrier, L.
Frontiers in Physiology 5 : 484. 16 December 2014

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

Recessive mutations in PCBD1 cause a new type of early-onset diabetes.
Simaite, D. and Kofent, J. and Gong, M. and Rüschendorf, F. and Jia, S. and Arn, P. and Bentler, K. and Ellaway, C. and Kühnen, P. and Hoffmann, G.F. and Blau, N. and Spagnoli, F.M. and Hübner, N. and Raile, K.
Diabetes 63 (10): 3557-3564. October 2014

Functional improvement and maturation of rat and human engineered heart tissue by chronic electrical stimulation.
Hirt, M.N. and Boeddinghaus, J. and Mitchell, A. and Schaaf, S. and Boernchen, C. and Müller, C. and Schulz, H. and Hubner, N. and Stenzig, J. and Stoehr, A. and Neuber, C. and Eder, A. and Luther, P.K. and Hansen, A. and Eschenhagen, T.
Journal of Molecular and Cellular Cardiology 74 : 151-161. September 2014

AmotL2 disrupts apical-basal cell polarity and promotes tumour invasion.
Mojallal, M. and Zheng, Y. and Hultin, S. and Audebert, S. and van Harn, T. and Johnsson, P. and Lenander, C. and Fritz, N. and Mieth, C. and Corcoran, M. and Lembo, F. and Hallstroem, M. and Hartman, J. and Mazure, N.M. and Weide, T. and Grander, D. and Borg, J.P. and Uhlen, P. and Holmgren, L.
Nature Communications 5 : 4557. 1 August 2014

RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing.
Maatz, H. and Jens, M. and Liss, M. and Schafer, S. and Heinig, M. and Kirchner, M. and Adami, E. and Rintisch, C. and Dauksaite, V. and Radke, M.H. and Selbach, M. and Barton, P.J.R. and Cook, S.A. and Rajewsky, N. and Gotthardt, M. and Landthaler, M. and Hubner, N.
Journal of Clinical Investigation 124 (8): 3419-3430. 1 August 2014

WT1 controls antagonistic FGF and BMP-pSMAD pathways in early renal progenitors.
Motamedi, F.J. and Badro, D.A. and Clarkson, M. and Rita Lecca, M. and Bradford, S.T. and Buske, F.A. and Saar, K. and Hübner, N. and Bräendli, A.W. and Schedl, A.
Nature Communications 5 : 4444. 17 July 2014

Protease inhibitor 15, a candidate gene for abdominal aortic internal elastic lamina ruptures in the rat.
Falak, S. and Schafer, S. and Baud, A. and Hummel, O. and Schulz, H. and Gauguier, D. and Hubner, N. and Osborne-Pellegrin, M.
Physiological Genomics 46 (12): 418-428. 15 June 2014

Genomes and phenomes of a population of outbred rats and its progenitors.
Baud, A. and Guryev, V. and Hummel, O. and Johannesson, M. and Flint, J.
Scientific Data 1 : 140011. 10 June 2014

Natural variation of histone modification and its impact on gene expression in the rat genome.
Rintisch, C. and Heinig, M. and Bauerfeind, A. and Schafer, S. and Mieth, C. and Patone, G. and Hummel, O. and Chen, W. and Cook, S. and Cuppen, E. and Colomé-Tatché, M. and Johannes, F. and Jansen, R.C. and Neil, H. and Werner, M. and Pravenec, M. and Vingron, M. and Hubner, N.
Genome Research 24 (6): 942-953. June 2014

Klf4 and Klf5 differentially inhibit mesoderm and endoderm differentiation in embryonic stem cells.
Aksoy, I. and Giudice, V. and Delahaye, E. and Wianny, F. and Aubry, M. and Mure, M. and Chen, J. and Jauch, R. and Bogu, G.K. and Nolden, T. and Himmelbauer, H. and Doss, M.X. and Sachinidis, A. and Schulz, H. and Hummel, O. and Martinelli, P. and Hübner, N. and Stanton, L.W. and Real, F.X. and Bourillot, P.Y. and Savatier, P.
Nature Communications 5 : 3719. 28 April 2014

A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.
Meder, B. and Rühle, F. and Weis, T. and Homuth, G. and Keller, A. and Franke, J. and Peil, B. and Bermejo, J.L. and Frese, K. and Huge, A. and Witten, A. and Vogel, B. and Haas, J. and Völker, U. and Ernst, F. and Teumer, A. and Ehlermann, P. and Zugck, C. and Friedrichs, F. and Kroemer, H. and Dörr, M. and Hoffmann, W. and Maisch, B. and Pankuweit, S. and Ruppert, V. and Scheffold, T. and Kühl, U. and Schultheiss, H.P. and Kreutz, R. and Ertl, G. and Angermann, C. and Charron, P. and Villard, E. and Gary, F. and Isnard, R. and Komajda, M. and Lutz, M. and Meitinger, T. and Sinner, M.F. and Wichmann, H.E. and Krawczak, M. and Ivandic, B. and Weichenhan, D. and Gelbrich, G. and El-Mokhtari, N.E. and Schreiber, S. and Felix, S.B. and Hasenfuß, G. and Pfeufer, A. and Hübner, N. and Kääb, S. and Arbustini, E. and Rottbauer, W. and Frey, N. and Stoll, M. and Katus, H.A.
European Heart Journal 35 (16): 1069-1077. 21 April 2014

Identification of Stim1 as a candidate gene for exaggerated sympathetic response to stress in the stroke-prone spontaneously hypertensive rat.
Ferdaus, M.Z. and Xiao, B. and Ohara, H. and Nemoto, K. and Harada, Y. and Saar, K. and Hübner, N. and Isomura, M. and Nabika, T.
PLoS ONE 9 (4): e95091. 15 April 2014

Rosuvastatin can block pro-inflammatory actions of transgenic human CRP without reducing its circulating levels.
Šilhavý, J. and Zídek, V. and Landa, V. and Šimáková, M. and Mlejnek, P. and Škop, V. and Oliyarnyk, O. and Kazdová, L. and Mancini, M. and Saar, K. and Schulz, H. and Hübner, N. and Kurtz, T.W. and Pravenec, M.
Cardiovascular Therapeutics 32 (2): 59-65. April 2014

Inflammation-induced acute phase response in skeletal muscle and critical illness myopathy.
Langhans, C. and Weber-Carstens, S. and Schmidt, F. and Hamati, J. and Kny, M. and Zhu, X. and Wollersheim, T. and Koch, S. and Krebs, M. and Schulz, H. and Lodka, D. and Saar, K. and Labeit, S. and Spies, C. and Hubner, N. and Spranger, J. and Spuler, S. and Boschmann, M. and Dittmar, G. and Butler-Browne, G. and Mouly, V. and Fielitz, J.
PLoS ONE 9 (3): e92048. 20 March 2014

TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction.
Ragancokova, D. and Rocca, E. and Oonk, A.M.M. and Schulz, H. and Rohde, E. and Bednarsch, J. and Feenstra, I. and Pennings, R.J.E. and Wende, H. and Garratt, A.N.
Journal of Clinical Investigation 124 (3): 1214-1227. 3 March 2014

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Chauveau, C. and Bonnemann, C.G. and Julien, C. and Kho, A.L. and Marks, H. and Talim, B. and Maury, P. and Arne-Bes, M.C. and Uro-Coste, E. and Alexandrovich, A. and Vihola, A. and Schafer, S. and Kaufmann, B. and Medne, L. and Hübner, N. and Foley, A.R. and Santi, M. and Udd, B. and Topaloglu, H. and Moore, S.A. and Gotthardt, M. and Samuels, M.E. and Gautel, M. and Ferreiro, A.
Human Molecular Genetics 23 (4): 980-991. 15 February 2014

Unbiased expression mapping identifies a link between the complement and cholinergic systems in the rat central nervous system.
Lindblom, R.P.F. and Ström, M. and Heinig, M. and Al Nimer, F. and Aeinehband, S. and Berg, A. and Dominguez, C.A. and Vijayaraghavan, S. and Zhang, X.M. and Harnesk, K. and Zelano, J. and Hübner, N. and Cullheim, S. and Darreh-Shori, T. and Diez, M. and Piehl, F.
Journal of Immunology 192 (3): 1138-1153. 1 February 2014

Differential gene expression profile and altered cytokine secretion of thyroid cancer cells in space.
Ma, X. and Pietsch, J. and Wehland, M. and Schulz, H. and Saar, K. and Hübner, N. and Bauer, J. and Braun, M. and Schwarzwälder, A. and Segerer, J. and Birlem, M. and Horn, A. and Hemmersbach, R. and Wasser, K. and Grosse, J. and Infanger, M. and Grimm, D.
FASEB Journal 28 (2): 813-835. February 2014

Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α.
Brooke, M.A. and Longhurst, H.J. and Plagnol, V. and Kirkby, N.S. and Mitchell, J.A. and Rüschendorf, F. and Warner, T.D. and Kelsell, D.P. and MacDonald, T.T.
Gut 63 (1): 96-104. January 2014

Quantitative and qualitative proteome characteristics extracted from in-depth integrated genomics and proteomics analysis.
Low, T.Y. and van Heesch, S. and van den Toorn, H. and Giansanti, P. and Cristobal, A. and Toonen, P. and Schaefer, S. and Hübner, N. and van Breukelen, B. and Mohammed, S. and Cuppen, E. and Heck, A.J.R. and Guryev, V.
Cell Reports 5 (5): 1469-1478. 12 December 2013

TLR4, ATF-3 and IL8 inflammation mediator expression correlates with seizure frequency in human epileptic brain tissue.
Pernhorst, K. and Herms, S. and Hoffmann, P. and Cichon, S. and Schulz, H. and Sander, T. and Schoch, S. and Becker, A.J. and Grote, A.
Seizure 22 (8): 675-678. October 2013

Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1).
Pakula, A. and Schneider, J. and Janke, J. and Zacharias, U. and Schulz, H. and Hübner, N. and Mähler, A. and Spuler, A. and Spuler, S. and Carlier, P. and Boschmann, M.
PLoS ONE 8 (9): e73573. 3 September 2013

Defaut primaire d'eruption (DPE) : analyse genetique clinique et moleculaire [Primary failure of eruption (PFE): clinical and molecular genetics analysis].
Stellzig-Eisenhauer, A. and Decker, E. and Meyer-Marcotty, P. and Rau, C. and Fiebig, B.S. and Kress, W. and Saar, K. and Rüschendorf, F. and Hubner, N. and Grimm, T. and Witt, E. and Weber, B.H.F.
Orthodontie Francaise 84 (3): 241-250. September 2013

Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.
Atanur, S.S. and Diaz, A.G. and Maratou, K. and Sarkis, A. and Rotival, M. and Game, L. and Tschannen, M.R. and Kaisaki, P.J. and Otto, G.W. and John Ma, M.C. and Keane, T.M. and Hummel, O. and Saar, K. and Chen, W. and Guryev, V. and Gopalakrishnan, K. and Garrett, M.R. and Joe, B. and Citterio, L. and Bianchi, G. and McBride, M. and Dominiczak, A. and Adams, D.J. and Serikawa, T. and Flicek, P. and Cuppen, E. and Hubner, N. and Petretto, E. and Gauguier, D. and Kwitek, A. and Jacob, H. and Aitman, T.J.
Cell 154 (3): 691-703. 1 August 2013

A functional IL-6 receptor (IL6R) variant is a risk factor for persistent atopic dermatitis.
Esparza-Gordillo, J. and Schaarschmidt, H. and Liang, L. and Cookson, W. and Bauerfeind, A. and Lee-Kirsch, M.A. and Nemat, K. and Henderson, J. and Paternoster, L. and Harper, J.L. and Mangold, E. and Nothen, M.M. and Rüschendorf, F. and Kerscher, T. and Marenholz, I. and Matanovic, A. and Lau, S. and Keil, T. and Bauer, C.P. and Kurek, M. and Ciechanowicz, A. and Macek, M. and Franke, A. and Kabesch, M. and Hubner, N. and Abecasis, G. and Weidinger, S. and Moffatt, M. and Lee, Y.A.
Journal of Allergy and Clinical Immunology 132 (2): 371-377. August 2013

Evaluation of 41 candidate gene variants for obesity in the EPIC-Potsdam cohort by multi-locus stepwise regression.
Knueppel, S. and Rohde, K. and Meidtner, K. and Drogan, D. and Holzhuetter, H.G. and Boeing, H. and Fisher, E.
PLoS ONE 8 (7): e68941. 12 July 2013

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Arndt, A.K. and Schaefer, S. and Drenckhahn, J.D. and Sabeh, M.K. and Plovie, E.R. and Caliebe, A. and Klopocki, E. and Musso, G. and Werdich, A.A. and Kalwa, H. and Heinig, M. and Padera, R.F. and Wassilew, K. and Bluhm, J. and Harnack, C. and Martitz, J. and Barton, P.J. and Greutmann, M. and Berger, F. and Huebner, N. and Siebert, R. and Kramer, H.H. and Cook, S.A. and Macrae, C.A. and Klaassen, S.
American Journal of Human Genetics 93 (1): 67-77. 11 July 2013

Interfering with Gal-1-mediated angiogenesis contributes to the pathogenesis of preeclampsia.
Freitag, N. and Tirado-González, I. and Barrientos, G. and Herse, F. and Thijssen, V.L.J.L. and Weedon-Fekjær, S.M. and Schulz, H. and Wallukat, G. and Klapp, B.F. and Nevers, T. and Sharma, S. and Staff, A.C. and Dechend, R. and Blois, S.M.
Proceedings of the National Academy of Sciences of the United States of America 110 (28): 11451-11456. 9 July 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

Two genomic regions of chromosomes 1 and 18 explain most of the stroke susceptibility under salt loading in stroke-prone spontaneously hypertensive Rat/Izm.
Gandolgor, T.A. and Ohara, H. and Cui, Z.H. and Hirashima, T. and Ogawa, T. and Saar, K. and Hübner, N. and Watanabe, T. and Isomura, M. and Nabika, T.
Hypertension 62 (1): 55-61. July 2013

Genomic approach to identify factors that drive the formation of three-dimensional structures by EA.hy926 endothelial cells.
Ma, X. and Wehland, M. and Schulz, H. and Saar, K. and Hübner, N. and Infanger, M. and Bauer, J. and Grimm, D.
PLoS ONE 8 (5): e64402. 10 May 2013

Comparative transcriptional profiling of the axolotl limb identifies a tripartite regeneration-specific gene program.
Knapp, D. and Schulz, H. and Rascon, C.A. and Volkmer, M. and Scholz, J. and Nacu, E. and Le, M. and Novozhilov, S. and Tazaki, A. and Protze, S. and Jacob, T. and Hubner, N. and Habermann, B. and Tanaka, E.M.
PLoS ONE 8 (5): e61352. 1 May 2013

Two novel GATA6 mutations cause childhood-onset diabetes mellitus, pancreas malformation and congenital heart disease.
Gong, M. and Simaite, D. and Kühnen, P. and Heldmann, M. and Spagnoli, F. and Blankenstein, O. and Hübner, N. and Hussain, K. and Raile, K.
Hormone Research in Paediatrics 79 (4): 250-256. May 2013

Overexpression of full-length centrobin rescues limb malformation but not male fertility of the hypodactylous (hd) rats.
Liška, F. and Gosele, C. and Popova, E. and Chylíková, B. and Krenová, D. and Křen, V. and Bader, M. and Tres, L.L. and Hubner, N. and Kierszenbaum, A.L.
PLoS ONE 8 (4): e60859. 8 April 2013

Systems-level approaches reveal conservation of trans-regulated genes in the rat and genetic determinants of blood pressure in humans.
Langley, S.R. and Bottolo, L. and Kunes, J. and Zicha, J. and Zidek, V. and Hubner, N. and Cook, S.A. and Pravenec, M. and Aitman, T.J. and Petretto, E.
Cardiovascular Research 97 (4): 653-665. 15 March 2013

Development and application of a DNA microarray-based yeast two-hybrid system.
Suter, B. and Fontaine, J.F. and Yildirimman, R. and Raskó, T. and Schaefer, M.H. and Rasche, A. and Porras, P. and Vázquez-Álvarez, B.M. and Russ, J. and Rau, K. and Foulle, R. and Zenkner, M. and Saar, K. and Herwig, R. and Andrade-Navarro, M.A. and Wanker, E.E.
Nucleic Acids Research 41 (3): 1496-507. 1 February 2013

Borna disease virus-induced neuronal degeneration dependent on host genetic background and prevented by soluble factors.
Wu, Y.J. and Schulz, H. and Lin, C.C. and Saar, K. and Patone, G. and Fischer, H. and Hübner, N. and Heimrich, B. and Schwemmle, M.
Proceedings of the National Academy of Sciences of the United States of America 110 (5): 1899-1904. 29 January 2013

Insights into negative regulation by the glucocorticoid receptor from genome-wide profiling of inflammatory cistromes.
Uhlenhaut, N.H. and Barish, G.D. and Yu, R.T. and Downes, M. and Karunasiri, M. and Liddle, C. and Schwalie, P. and Hübner, N. and Evans, R.M.
Molecular Cell 49 (1): 158-171. 10 January 2013

Activation of the PTHRP/adenylate cyclase pathway promotes differentiation of rat XEN cells into parietal endoderm, whereas Wnt/β-catenin signaling promotes differentiation into visceral endoderm.
Chuykin, I. and Schulz, H. and Guan, K. and Bader, M.
Journal of Cell Science 126 (Pt 1): 128-138. 1 January 2013

Increased proliferative cells in the medullary thick ascending limb of the loop of henle in the dahl salt-sensitive rat.
Yang, C. and Stingo, F.C. and Ahn, K.W. and Liu, P. and Vannucci, M. and Laud, P.W. and Skelton, M. and O’Connor, P. and Kurth, T. and Ryan, R.P. and Moreno, C. and Tsaih, S.W. and Patone, G. and Hummel, O. and Jacob, H.J. and Liang, M. and Cowley, A.W.
Hypertension 61 (1): 208-215. January 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
Steffens, M. and Leu, C. and Ruppert, A.K. and Zara, F. and Striano, P. and Robbiano, A. and Capovilla, G. and Tinuper, P. and Gambardella, A. and Bianchi, A. and La Neve, A. and Crichiutti, G. and de Kovel, C.G.F. and Kasteleijn-Nolst Trenite, D. and de Haan, G.J. and Lindhout, D. and Gaus, V. and Schmitz, B. and Janz, D. and Weber, Y.G. and Becker, F. and Lerche, H. and Steinhoff, B.J. and Kleefuss-Lie, A.A. and Kunz, W.S. and Surges, R. and Elger, C.E. and Muhle, H. and von Spiczak, S. and Ostertag, P. and Helbig, I. and Stephani, U. and Moller, R.S. and Hjalgrim, H. and Dibbens, L.M. and Bellows, S. and Oliver, K. and Mullen, S. and Scheffer, I.E. and Berkovic, S.F. and Everett, K.V. and Gardiner, M.R. and Marini, C. and Guerrini, R. and Lehesjoki, A.E. and Siren, A. and Guipponi, M. and Malafosse, A. and Thomas, P. and Nabbout, R. and Baulac, S. and Leguern, E. and Guerrero, R. and Serratosa, J.M. and Reif, P.S. and Rosenow, F. and Mörzinger, M. and Feucht, M. and Zimprich, F. and Kapser, C. and Schankin, C.J. and Suls, A. and Smets, K. and De Jonghe, P. and Jordanova, A. and Caglayan, H. and Yapici, Z. and Yalcin, D.A. and Baykan, B. and Bebek, N. and Ozbek, U. and Gieger, C. and Wichmann, H.E. and Balschun, T. and Ellinghaus, D. and Franke, A. and Meesters, C. and Becker, T and Wienker, T.F. and Hempelmann, A. and Schulz, H. and Rueschendorf, F. and Leber, M. and Pauck, S.M. and Trucks, H. and Toliat, M.R. and Nuernberg, P. and Avanzini, G. and Koeleman, B.P. and Sander, T.
Human Molecular Genetics 21 (24): 5359-5372. 15 December 2012

Gravity-sensitive signaling drives 3-dimensional formation of multicellular thyroid cancer spheroids.
Grosse, J. and Wehland, M. and Pietsch, J. and Schulz, H. and Saar, K. and Huebner, N. and Eilles, C. and Bauer, J. and Abou-El-Ardat, K. and Baatout, S. and Ma, X. and Infanger, M. and Hemmersbach, R. and Grimm, D.
FASEB Journal 26 (12): 5124-5140. December 2012

A misplaced lncRNA causes brachydactyly in humans.
Maass, P.G. and Rump, A. and Schulz, H. and Stricker, S. and Schulze, L. and Platzer, K. and Aydin, A. and Tinschert, S. and Goldring, M.B. and Luft, F.C. and Bähring, S.
Journal of Clinical Investigation 122 (11): 3990-4002. 1 November 2012

MWF rats with spontaneous albuminuria inherit a reduced efficiency of nephron induction during early nephrogenesis in comparison to SHRs.
Schulte, L. and Schulz, A. and Unland, J. and Schulz, H. and Hubner, N. and Schmidt-Ott, K.M. and Kreutz, R.
Journal of Hypertension 30 (10): 2031-2038. October 2012

Gene expression signatures defining fundamental biological processes in pluripotent, early, and late differentiated embryonic stem cells.
Gaspar, J.A. and Doss, M.X. and Winkler, J. and Wagh, V. and Hescheler, J. and Kolde, R. and Vilo, J. and Schulz, H. and Sachinidis, A.
Stem Cells and Development 21 (13): 2471-2484. 1 September 2012

Wnt/beta-catenin and Bmp signals control distinct sets of transcription factors in cardiac progenitor cells.
Klaus, A. and Mueller, M. and Schulz, H. and Saga, Y. and Martin, J.F. and Birchmeier, W.
Proceedings of the National Academy of Sciences of the United States of America 109 (27): 10921-10926. 3 July 2012

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
Preising, M.N. and Hausotter-Will, N. and Solbach, M.C. and Friedburg, C. and Rueschendorf, F. and Lorenz, B.
Investigative Ophthalmology & Visual Science 53 (7): 3463-3472. 8 June 2012

The ANO3/MUC15 locus is associated with eczema in families ascertained through asthma.
Dizier, M.H. and Margaritte-Jeannin, P. and Madore, A.M. and Esparza-Gordillo, J. and Moffatt, M.F. and Corda, E. and Monier, F. and Guilloud-Bataille, M. and Franke, A. and Weidinger, S. and Annesi-Maesano, I. and Just, J. and Pin, I. and Kauffmann, F. and Cookson, W. and Lee, Y.A. and Laprise, C. and Lathrop, M. and Bouzigon, E. and Demenais, F.
Journal of Allergy and Clinical Immunology 129 (6): 1547-1553. June 2012

A genetic basis for mechanosensory traits in humans.
Frenzel, H. and Bohlender, J. and Pinsker, K. and Wohlleben, B. and Tank, J. and Lechner, S.G. and Schiska, D. and Jaijo, T. and Rueschendorf, F. and Saar, K. and Jordan, J. and Millan, J.M. and Gross, M. and Lewin, G.R.
PLoS Biology 10 (5): e1001318. 1 May 2012

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing.
Guo, W. and Schafer, S. and Greaser, M.L. and Radke, M.H. and Liss, M. and Govindarajan, T. and Maatz, H. and Schulz, H. and Lincoln, S.E. and Parrish, A.M. and Dauksaite, V. and Vakeel, P. and Klaassen, S. and Gerull, B. and Thierfelder, L. and Regitz-Zagrosek, V. and Hacker, T.A. and Saupe, K.W. and Dec, G.W. and Ellinor, P.T. and MacRae, C.A. and Spallek, B. and Fischer, R. and Perrot, A. and Ozcelik, C. and Saar, K. and Hubner, N. and Gotthardt, M.
Nature Medicine 18 (5): 766-773. May 2012

Identification of Alzheimer disease risk genotype that predicts efficiency of SORL1 expression in the brain.
Caglayan, S. and Bauerfeind, A. and Schmidt, V. and Carlo, A.S. and Prabakaran, T. and Huebner, N. and Willnow, T.E.
Archives of Neurology 69 (3): 373-379. March 2012

Specific gene signatures and pathways in mesodermal cells and their derivatives derived from embryonic stem cells.
Doss, M.X. and Gaspar, J.A. and Winkler, J. and Hescheler, J. and Schulz, H. and Sachinidis, A.
Stem Cell Reviews and Reports 8 (1): 43-54. March 2012

Combined RNAi and localization for functionally dissecting long noncoding RNAs.
Chakraborty, D. and Kappei, D. and Theis, M. and Nitzsche, A. and Ding, L. and Paszkowski-Rogacz, M. and Surendranath, V. and Berger, N. and Schulz, H. and Saar, K. and Hubner, N. and Buchholz, F.
Nature Methods 9 (4): 360-362. 12 February 2012

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Baumann, M. and Giunta, C. and Krabichler, B. and Rueschendorf, F. and Zoppi, N. and Colombi, M. and Bittner, R.E. and Quijano-Roy, S. and Muntoni, F. and Cirak, S. and Schreiber, G. and Zou, Y. and Hu, Y. and Romero, N.B. and Carlier, R.Y. and Amberger, A. and Deutschmann, A. and Straub, V. and Rohrbach, M. and Steinmann, B. and Rostasy, K. and Karall, D. and Boennemann, C.G. and Zschocke, J. and Fauth, C.
American Journal of Human Genetics 90 (2): 201-216. 10 February 2012

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
Leu, C. and de Kovel, C.G.F. and Zara, F. and Striano, P. and Pezzella, M. and Robbiano, A. and Bianchi, A. and Bisulli, F. and Coppola, A. and Giallonardo, A.T. and Beccaria, F. and Trenite, D.K. and Lindhout, D. and Gaus, V. and Schmitz, B. and Janz, D. and Weber, Y.G. and Becker, F. and Lerche, H. and Kleefuss-Lie, A.A. and Hallman, K. and Kunz, W.S. and Elger, C.E. and Muhle, H. and Stephani, U. and Moller, R.S. and Hjalgrim, H. and Mullen, S. and Scheffer, I.E. and Berkovic, S.F. and Everett, K.V. and Gardiner, M.R. and Marini, C. and Guerrini, R. and Lehesjoki, A.E. and Siren, A. and Nabbout, R. and Baulac, S. and Leguern, E. and Serratosa, J.M. and Rosenow, F. and Feucht, M. and Unterberger, I. and Covanis, A. and Suls, A. and Weckhuysen, S. and Kaneva, R. and Caglayan, H. and Turkdogan, D. and Baykan, B. and Bebek, N. and Ozbek, U. and Hempelmann, A. and Schulz, H. and Rueschendorf, F. and Trucks, H. and Nuernberg, P. and Avanzini, G. and Koeleman, B.P.C. and Sander, T.
Epilepsia 53 (2): 308-318. February 2012

HOXB4 can enhance the differentiation of embryonic stem cells by modulating the haematopoietic niche.
Jackson, M. and Axton, R.A. and Taylor, A.H. and Wilson, J.A. and Gordon-Keylock, S.A. and Kokkaliaris, K. and Brickman, J.M. and Schulz, H. and Hummel, O. and Hubner, N. and Forrester, L.M.
Stem Cells 30 (2): 150-160. February 2012

Short-term weightlessness produced by parabolic flight maneuvers altered gene expression patterns in human endothelial cells.
Grosse, J. and Wehland, M. and Pietsch, J. and Ma, X. and Ulbrich, C. and Schulz, H. and Saar, K. and Huebner, N. and Hauslage, J. and Hemmersbach, R. and Braun, M. and van Loon, J. and Vagt, N. and Infanger, M. and Eilles, C. and Egli, M. and Richter, P. and Baltz, T. and Einspanier, R. and Sharbati, S. and Grimm, D.
FASEB Journal 26 (2): 639-655. February 2012

Multi-locus stepwise regression: a haplotype-based algorithm for finding genetic associations applied to atopic dermatitis.
Knuppel, S. and Esparza-Gordillo, J. and Marenholz, I. and Holzhutter, H. and Bauerfeind, A. and Ruether, A. and Weidinger, S. and Lee, Y.A. and Rohde, K.
BMC Medical Genetics 13 (1): 8. 27 January 2012

Integrated genomic approaches to identification of candidate genes underlying metabolic and cardiovascular phenotypes in the spontaneously hypertensive rat.
Morrissey, C. and Grieve, I.C. and Heinig, M. and Atanur, S. and Petretto, E. and Pravenec, M. and Hubner, N. and Aitman, T.J.
Physiological Genomics 43 (21): 1207-1218. 7 November 2011

Inflammatory skin and bowel disease linked to ADAM17 deletion.
Blaydon, D.C. and Biancheri, P. and Di, W.L. and Plagnol, V. and Cabral, R.M. and Brooke, M.A. and van Heel, D.A. and Ruschendorf, F. and Toynbee, M. and Walne, A. and O'Toole, E.A. and Martin, J.E. and Lindley, K. and Vulliamy, T. and Abrams, D.J. and MacDonald, T.T. and Harper, J.I. and Kelsell, D.P.
New England Journal of Medicine 365 (16): 1502-1508. 20 October 2011

Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function.
McDermott-Roe, C. and Ye, J. and Ahmed, R. and Sun, X.M. and Serafin, A. and Ware, J. and Bottolo, L. and Muckett, P. and Canas, X. and Zhang, J. and Rowe, G.C. and Buchan, R. and Lu, H. and Braithwaite, A. and Mancini, M. and Hauton, D. and Marti, R. and Garcia-Arumi, E. and Hubner, N. and Jacob, H. and Serikawa, T. and Zidek, V. and Papousek, F. and Kolar, F. and Cardona, M. and Ruiz-Meana, M. and Garcia-Dorado, D. and Comella, J.X. and Felkin, L.E. and Barton, P.J. and Arany, Z. and Pravenec, M. and Petretto, E. and Sanchis, D. and Cook, S.A.
Nature 478 (7367): 114-118. 6 October 2011

Differential gene regulation under altered gravity conditions in follicular thyroid cancer cells: relationship between the extracellular matrix and the cytoskeleton.
Ulbrich, C. and Pietsch, J. and Grosse, J. and Wehland, M. and Schulz, H. and Saar, K. and Huebner, N. and Hauslage, J. and Hemmersbach, R. and Braun, M. and van Loon, J. and Vagt, N. and Egli, M. and Richter, P. and Einspanier, R. and Sharbati, S. and Baltz, T. and Infanger, M. and Ma, X. and Grimm, D.
Cellular Physiology and Biochemistry 28 (2): 185-198. 16 August 2011

Association screening in the epidermal differentiation complex (EDC) identifies an SPRR3 repeat number variant as a risk factor for eczema.
Marenholz, I. and Rivera, V.A. and Esparza-Gordillo, J. and Bauerfeind, A. and Lee-Kirsch, M.A. and Ciechanowicz, A. and Kurek, M. and Piskackova, T. and Macek, M. and Lee, Y.A.
Journal of Investigative Dermatology 131 (8): 1644-1649. August 2011

Characterization of the genomic structure and function of regions influencing renin and angiogenesis in the SS rat.
Stodola, T.J. and de Resende, M.M. and Sarkis, A.B. and Didier, D.N. and Jacob, H.J. and Huebner, N. and Hummel, O. and Saar, K. and Moreno, C. and Greene, A.S.
Physiological Genomics 43 (13): 808-817. 14 July 2011

Angiotensin II type 1 receptor antibodies and increased angiotensin II sensitivity in pregnant rats.
Wenzel, K. and Rajakumar, A. and Haase, H. and Geusens, N. and Hubner, N. and Schulz, H. and Brewer, J. and Roberts, L. and Hubel, C.A. and Herse, F. and Hering, L. and Qadri, F. and Lindschau, C. and Wallukat, G. and Pijnenborg, R. and Heidecke, H. and Riemekasten, G. and Luft, F.C. and Muller, D.N. and Lamarca, B. and Dechend, R.
Hypertension 58 (1): 77-84. July 2011

The eczema risk variant on chromosome 11q13 (rs7927894) in the population-based ALSPAC cohort: a novel susceptibility factor for asthma and hay fever.
Marenholz, I. and Bauerfeind, A. and Esparza-Gordillo, J. and Kerscher, T. and Granell, R. and Nickel, R. and Lau, S. and Henderson, J. and Lee, Y.A.
Human Molecular Genetics 20 (12): 2443-2449. 15 June 2011

RAD21 cooperates with pluripotency transcription factors in the maintenance of embryonic stem cell identity.
Nitzsche, A. and Paszkowski-Rogacz, M. and Matarese, F. and Janssen-Megens, E.M. and Hubner, N.C. and Schulz, H. and de Vries, I. and Ding, L. and Huebner, N. and Mann, M. and Stunnenberg, H.G. and Buchholz, F.
PLoS ONE 6 (5): e19470. 12 May 2011

Redox regulation of soluble epoxide hydrolase by 15-deoxy-Δ-prostaglandin J2 controls coronary hypoxic vasodilation.
Charles, R.L. and Burgoyne, J.R. and Mayr, M. and Weldon, S.M. and Hubner, N. and Dong, H. and Morisseau, C. and Hammock, B.D. and Landar, A.L. and Eaton, P.
Circulation Research 108 (3): 324-334. 4 February 2011

Geno-transcriptomic dissection of proteinuria in the uninephrectomized rat uncovers a molecular complexity with sexual dimorphism.
Yagil, Y. and Hessner, M.J. and Schulz, H. and Gosele, C. and Lebdev, L. and Barkalifa, R. and Sapojnikov, M. and Huebner, N. and Yagil, C.
Physiological Genomics 42A (4): 301-316. 29 November 2010

Childhood hypertension in autosomal-dominant hypertension with brachydactyly.
Toka, O. and Maass, P.G. and Aydin, A. and Toka, H. and Huebner, N. and Rueschendorf, F. and Gong, M. and Luft, F.C. and Bähring, S.
Hypertension 56 (5): 988-994. November 2010

A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.
Heinig, M. and Petretto, E. and Wallace, C. and Bottolo, L. and Rotival, M. and Lu, H. and Li, Y. and Sarwar, R. and Langley, S.R. and Bauerfeind, A. and Hummel, O. and Lee, Y.A. and Paskas, S. and Rintisch, C. and Saar, K. and Cooper, J. and Buchan, R. and Gray, E.E. and Cyster, J.G. and Braund, P. and Gracey, J. and Krishnan, U. and Moore, J.S. and Nelson, C.P. and Pollard, H. and Attwood, T. and Crisp-Hihn, A. and Foad, N. and Jolley, J. and Lloyd-Jones, H. and Muir, D. and Murray, E. and O'Leary, K. and Rankin, A. and Sambrook, J. and Godfroy, T. and Brocheton, J. and Proust, C. and Schmitz, G. and Heimerl, S. and Lugauer, I. and Belz, S. and Gulde, S. and Linsel-Nitschke, P. and Sager, H. and Schroeder, L. and Lundmark, P. and Syvannen, A.C. and Neudert, J. and Scholz, M. and Deloukas, P. and Gray, E. and Gwilliams, R. and Niblett, D. and Erdmann, J. and Hengstenberg, C. and Maouche, S. and Ouwehand, W.H. and Rice, C.M. and Samani, N.J. and Schunkert, H. and Goodall, A.H. and Schulz, H. and Roider, H.G. and Vingron, M. and Blankenberg, S. and Muenzel, T. and Zeller, T. and Szymczak, S. and Ziegler, A. and Tiret, L. and Smyth, D.J. and Pravenec, M. and Aitman, T.J. and Cambien, F. and Clayton, D. and Todd, J.A. and Huebner, N. and Cook, S.A.
Nature 467 (7314): 460-464. 23 September 2010

Evidence for linkage of the bladder exstrophy-epispadias complex on chromosome 4q31.21-22 and 19q13.31-41 from a consanguineous iranian family.
Reutter, H. and Rueschendorf, F. and Mattheisen, M. and Draaken, M. and Bartels, E. and Huebner, N. and Hoffmann, P. and Payabvash, S. and Saar, K. and Noethen, M.M. and Kajbafzadeh, A.M. and Ludwig, M.
Birth Defects Research. Part A, Clinical and Molecular Teratology 88 (9): 757-761. September 2010

The soluble intracellular domain of megalin does not affect renal proximal tubular function in vivo.
Christ, A. and Terryn, S. and Schmidt, V. and Christensen, E.I. and Huska, M.R. and Andrade-Navarro, M.A. and Huebner, N. and Devuyst, O. and Hammes, A. and Willnow, T.E.
Kidney International 78 (5): 473-477. September 2010

Clinical and genetic features in a family with CADASIL and high lipoprotein (a) values.
Gong, M. and Rueschendorf, F. and Marx, P. and Schulz, H. and Kraft, H.G. and Huebner, N. and Koennecke, H.C.
Journal of Neurology 257 (8): 1240-1245. August 2010

Haplotypes of dopamine and serotonin transporter genes are associated with antisocial personality disorder in alcoholics.
Reese, J. and Kraschewski, A. and Anghelescu, I. and Winterer, G. and Schmidt, L.G. and Gallinat, J. and Rueschendorf, F. and Rommelspacher, H. and Wernicke, C.
Psychiatric Genetics 20 (4): 140-152. August 2010

Human cytomegalovirus increases HUVEC sensitivity to thrombin and modulates expression of thrombin receptors.
Popovic, M. and Paskas, S. and Zivkovic, M. and Burysek, L. and Laumonnier, Y.
Journal of Thrombosis and Thrombolysis 30 (2): 164-171. August 2010

Genetic regulation of catecholamine synthesis, storage and secretion in the spontaneously hypertensive rat.
Jirout, M.L. and Friese, R.S. and Mahapatra, N.R. and Mahata, M. and Taupenot, L. and Mahata, S.K. and Kren, V. and Zidek, V. and Fischer, J. and Maatz, H. and Ziegler, M.G. and Pravenec, M. and Huebner, N. and Aitman, T.J. and Schork, N.J. and O'Connor, D.T.
Human Molecular Genetics 19 (13): 2567-2580. 1 July 2010

The genome sequence of the spontaneously hypertensive rat: analysis and functional significance.
Atanur, S.S. and Birol, I. and Guryev, V. and Hirst, M. and Hummel, O. and Morrissey, C. and Behmoaras, J. and Fernandez-Suarez, X.M. and Johnson, M.D. and McLaren, W.M. and Patone, G. and Petretto, E. and Plessy, C. and Rockland, K.S. and Rockland, C. and Saar, K. and Zhao, Y. and Carninci, P. and Flicek, P. and Kurtz, T. and Cuppen, E. and Pravenec, M. and Huebner, N. and Jones, S.J. and Birney, E. and Aitman, T.J.
Genome Research 20 (6): 791-803. June 2010

Genetics and beyond - the transcriptome of human monocytes and disease susceptibility.
Zeller, T. and Wild, P. and Szymczak, S. and Rotival, M. and Schillert, A. and Castagne, R. and Maouche, S. and Germain, M. and Lackner, K. and Rossmann, H. and Eleftheriadis, M. and Sinning, C.R. and Schnabel, R.B. and Lubos, E. and Mennerich, D. and Rust, W. and Perret, C. and Proust, C. and Nicaud, V. and Loscalzo, J. and Huebner, N. and Tregouet, D. and Muenzel, T. and Ziegler, A. and Tiret, L. and Blankenberg, S. and Cambien, F.
PLoS ONE 5 (5): e10693. 18 May 2010

Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis.
de Kovel, C.G. and Pinto, D. and Tauer, U. and Lorenz, S. and Muhle, H. and Leu, C. and Neubauer, B.A. and Hempelmann, A. and Callenbach, P.M. and Scheffer, I.E. and Berkovic, S.F. and Rudolf, G. and Striano, P. and Siren, A. and Baykan, B. and Sander, T. and Lindhout, D. and Kasteleijn-Nolst Trenite, D.G. and Stephani, U. and Koeleman, B.P.
Epilepsy Research 89 (2-3): 286-294. May 2010

New insights into the genetic control of gene expression using a Bayesian multi-tissue approach.
Petretto, E. and Bottolo, L. and Langley, S.R. and Heinig, M. and McDermott-Roe, C. and Sarwar, R. and Pravenec, M. and Huebner, N. and Aitman, T.J. and Cook, S.A. and Richardson, S.
PLoS Computational Biology 6 (4): e1000737. 8 April 2010

Quantifying the effect of sequence variation on regulatory interactions.
Manke, T. and Heinig, M. and Vingron, M.
Human Mutation 31 (4): 477-483. April 2010

Global transcriptomic analysis of murine embryonic stem cell-derived brachyury+ (T) cells.
Doss, M.X. and Wagh, V. and Schulz, H. and Kull, M. and Kolde, R. and Pfannkuche, K. and Nolden, T. and Himmelbauer, H. and Vilo, J. and Hescheler, J. and Sachinidis, A.
Genes to Cells 15 (3): 209-228. March 2010

alpha(1A)-adrenergic receptor-directed autoimmunity induces left ventricular damage and diastolic dysfunction in rats.
Wenzel, K. and Wallukat, G. and Qadri, F. and Huebner, N. and Schulz, H. and Hummel, O. and Herse, F. and Heuser, A. and Fischer, R. and Heidecke, H. and Luft, F.C. and Mueller, D.N. and Dietz, R. and Dechend, R.
PLoS ONE 5 (2): e9409. 24 February 2010

Cerebrovascular dysfunction and microcirculation rarefaction precede white matter lesions in a mouse genetic model of cerebral ischemic small vessel disease.
Joutel, A. and Monet-Lepretre, M. and Gosele, C. and Baron-Menguy, C. and Hammes, A. and Schmidt, S. and Lemaire-Carrette, B. and Domenga, V. and Schedl, A. and Lacombe, P. and Huebner, N.
Journal of Clinical Investigation 120 (2): 433-445. 1 February 2010

A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.
Ratelade, J. and Arrondel, C. and Hamard, G. and Garbay, S. and Harvey, S. and Biebuyck, N. and Schulz, H. and Hastie, N. and Pontoglio, M. and Gubler, M.C. and Antignac, C. and Heidet, L.
Human Molecular Genetics 19 (1): 1-15. 1 January 2010

A novel active endogenous retrovirus family contributes to genome variability in rat inbred strains.
Wang, Y. and Liska, F. and Gosele, C. and Sedova, L. and Kren, V. and Krenova, D. and Ivics, Z. and Huebner, N. and Izsvak, Z.
Genome Research 20 (1): 19-27. January 2010

Die primaere Durchbruchsstoerung (PFE) - klinische und molekulargenetische Analyse [Primary failure of eruption (PFE) - clinical and molecular genetics analysis].
Stellzig-Eisenhauer, A. and Decker, E. and Meyer-Marcotty, P. and Rau, C. and Fiebig, B.S. and Kress, W. and Saar, K. and Rueschendorf, F. and Huebner, N. and Grimm, T. and Witt, E. and Weber, B.H.
Journal of Orofacial Orthopedics 71 (1): 6-16. January 2010

Characterization of mouse embryonic stem cell differentiation into the pancreatic lineage in vitro by transcriptional profiling, quantitative RT-PCR and immunocytochemistry.
Rolletschek, A. and Schroeder, I.S. and Schulz, H. and Hummel, O. and Huebner, N. and Wobus, A.M.
International Journal of Developmental Biology 54 (1): 41-54. 2010

Impairment of sox9 expression in limb buds of rats homozygous for hypodactyly mutation.
Liska, F. and Snajdr, P. and Stricker, S. and Goesele, C. and Krenova, D. and Mundlos, S. and Huebner, N.
Folia Biologica Prague 56 (2): 58-65. 2010

Association of AHSG gene polymorphisms with fetuin-A plasma levels and cardiovascular diseases in the EPIC-Potsdam study.
Fisher, E. and Stefan, N. and Saar, K. and Drogan, D. and Schulze, M.B. and Fritsche, A. and Joost, H.G. and Haering, H.U. and Huebner, N. and Boeing, H. and Weikert, C.
Circulation Cardiovascular Genetics 2 (6): 607-613. December 2009

Rat hd mutation reveals an essential role of centrobin in spermatid head shaping and assembly of the head-tail coupling apparatus.
Liska, F. and Goesele, C. and Rivkin, E. and Tres, L. and Cardoso, M.C. and Domaing, P. and Krejci, E. and Snajdr, P. and Lee-Kirsch, M.A. and de Rooij, D.G. and Kren, V. and Krenova, D. and Kierszenbaum, A.L. and Huebner, N.
Biology of Reproduction 81 (6): 1196-1205. December 2009

Somitovasculin, a novel endothelial-specific transcript involved in the vasculature development.
Mariappan, D. and Niemann, R. and Gajewski, M. and Winkler, J. and Chen, S. and Choorapoikayil, S. and Bitzer, M. and Schulz, H. and Hescheler, J. and Sachinidis, A.
Arteriosclerosis Thrombosis and Vascular Biology 29 (11): 1823-1829. November 2009

Improvement of fractional flow reserve and collateral flow by treatment with external counterpulsation (Art.Net.-2 Trial).
Buschmann, E.E. and Utz, W. and Pagonas, N. and Schulz-Menger, J. and Busjahn, A. and Monti, J. and Maerz, W. and le Noble, F. and Thierfelder, L. and Dietz, R. and Klauss, V. and Gross, M. and Buschmann, I.R.
European Journal of Clinical Investigation 39 (10): 866-875. October 2009

The FunGenES database: a genomics resource for mouse embryonic stem cell differentiation.
Schulz, H. and Kolde, R. and Adler, P. and Aksoy, I. and Anastassiadis, K. and Bader, M. and Billon, N. and Boeuf, H. and Bourillot, P.Y. and Buchholz, F. and Dani, C. and Doss, M.X. and Forrester, L. and Gitton, M. and Henrique, D. and Hescheler, J. and Himmelbauer, H. and Huebner, N. and Karantzali, E. and Kretsovali, A. and Lubitz, S. and Pradier, L. and Rai, M. and Reimand, J. and Rolletschek, A. and Sachinidis, A. and Savatier, P. and Stewart, F. and Storm, M.P. and Trouillas, M. and Vilo, J. and Welham, M.J. and Winkler, J. and Wobus, A.M. and Hatzopoulos, A.K.
PLoS ONE 4 (9): e6804. 3 September 2009

IL13 variants are associated with total serum IgE and early sensitization to food allergens in children with atopic dermatitis.
Zitnik, S.E. and Rueschendorf, F. and Mueller, S. and Sengler, C. and Lee, Y.A. and Griffioen, R.W. and Meglio, P. and Wahn, U. and Witt, H. and Nickel, R.
Pediatric Allergy and Immunology 20 (6): 551-555. September 2009

Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome.
Mollet, G. and Ratelade, J. and Boyer, O. and Muda, A.O. and Morisset, L. and Lavin, T.A. and Kitzis, D. and Dallman, M.J. and Bugeon, L. and Huebner, N. and Gubler, M.C. and Antignac, C. and Esquive, E.L.
Journal of the American Society of Nephrology 20 (10): 2181-2189. 27 August 2009

Novel STAT3 target genes exert distinct roles in the inhibition of mesoderm and endoderm differentiation in cooperation with Nanog.
Bourillot, P.Y. and Aksoy, I. and Schreiber, V. and Wianny, F. and Schulz, H. and Hummel, O. and Huebner, N. and Savatier, P.
Stem Cells 27 (8): 1760-1771. August 2009

Neural differentiation of embryonic stem cells in vitro: A road map to neurogenesis in the embryo.
Abranches, E. and Silva, M. and Pradier, L. and Schulz, H. and Hummel, O. and Henrique, D. and Bekman, E.
PLoS ONE 4 (7): e6286. 21 July 2009

Characterization of Nob3, a major quantitative trait locus for obesity and hyperglycemia on mouse chromosome 1.
Vogel, H. and Nestler, M. and Rueschendorf, F. and Block, M.D. and Tischer, S. and Kluge, R. and Schurmann, A. and Joost, H.G. and Scherneck, S.
Physiological Genomics 38 (2): 226-232. 9 July 2009

COMT Val 158 Met polymorphism is associated with cognitive flexibility in a signal discrimination task in schizophrenia.
Neuhaus, A.H. and Opgen-Rhein, C. and Urbanek, C. and Hahn, E. and Ta, T.M. and Seidelsohn, M. and Strathmann, S. and Kley, F. and Wieseke, N. and Sander, T. and Dettling, M.
Pharmacopsychiatry 42 (4): 141-144. July 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

A genome-scale RNAi screen for Oct4 modulators defines a role of the Paf1 complex for embryonic stem cell identity.
Ding, L. and Paszkowski-Rogacz, M. and Nitzsche, A. and Slabicki, M.M. and Heninger, A.K. and Vries, I.D. and Kittler, R. and Junqueira, M. and Shevchenko, A. and Schulz, H. and Huebner, N. and Doss, M.X. and Sachinidis, A. and Hescheler, J. and Iacone, R. and Anastassiadis, K. and Stewart, A.F. and Pisabarro, M.T. and Caldarelli, A. and Poser, I. and Theis, M. and Buchholz, F.
Cell Stem Cell 4 (5): 403-415. 8 May 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

A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany*.
Hoffmann, K. and Planitz, C. and Rueschendorf, F. and Mueller-Myhsok, B. and Stassen, H.H. and Lucke, B. and Mattheisen, M. and Stumvoll, M. and Bochmann, R. and Zschornack, M. and Wienker, T.F. and Nuernberg, P. and Reis, A. and Luft, F.C. and Lindner, T.H.
Journal of Hypertension 27 (5): 983-990. May 2009

Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.
Huck, K. and Feyen, O. and Niehues, T. and Rueschendorf, F. and Huebner, N. and Laws, H.J. and Telieps, T. and Knapp, S. and Wacker, H.H. and Meindl, A. and Jumaa, H. and Borkhardt, A.
Journal of Clinical Investigation 119 (5): 1350-1358. May 2009

ICOS-gene variants are not associated with atopic disease susceptibility in European children.
Beier, K.C. and Humberdros, S. and Witt, H. and Illi, S. and Rueschendorf, F. and Nickel, R. and Lee, Y.A. and Lau, S. and Wahn, U. and Hamelmann, E.
Pediatric Allergy and Immunology 20 (3): 242-245. May 2009

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship.
Lebrun, A.H. and Storch, S. and Rueschendorf, F. and Schmiedt, M.L. and Kyttaelae, A. and Mole, S.E. and Kitzmueller, C. and Saar, K. and Mewasingh, L.D. and Boda, V. and Kohlschuetter, A. and Ullrich, K. and Braulke, T. and Schulz, A.
Human Mutation 30 (5): E651-E661. May 2009

An interaction between filaggrin mutations and early food sensitization improves the prediction of childhood asthma.
Marenholz, I. and Kerscher, T. and Bauerfeind, A. and Esparza-Gordillo, J. and Nickel, R. and Keil, T. and Lau, S. and Rohde, K. and Wahn, U. and Lee, Y.A.
Journal of Allergy and Clinical Immunology 123 (4): 911-916. April 2009

Characterization of the phosphoinositide 3-kinase-dependent transcriptome in murine embryonic stem cells: identification of novel regulators of pluripotency.
Storm, M.P. and Kumpfmueller, B. and Thompson, B. and Kolde, R. and Vilo, J. and Hummel, O. and Schulz, H. and Welham, M.J.
Stem Cells 27 (4): 764-775. April 2009

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian, P. and Mueller, T. and Krabichler, B. and Schranz, M. and Becker, C. and Rueschendorf, F. and Nuernberg, P. and Rossier, B. and Vujic, M. and Booth, I.W. and Holmberg, C. and Wijmenga, C. and Grigelioniene, G. and Kneepkens, C.M. and Rosipal, S. and Mistrik, M. and Kappler, M. and Michaud, L. and Doczy, L.C. and Siu, V.M. and Krantz, M. and Zoller, H. and Utermann, G. and Janecke, A.R.
American Journal of Human Genetics 84 (2): 188-196. 13 February 2009

Three LIF-dependent signatures and gene clusters with atypical expression profiles, identified by transcriptome studies in mouse ES cells and early derivatives.
Trouillas, M. and Saucourt, C. and Guillotin, B. and Gauthereau, X. and Ding, L. and Buchholz, F. and Doss, M.X. and Sachinidis, A. and Hescheler, J. and Hummel, O. and Huebner, N. and Kolde, R. and Vilo, J. and Schultz, H. and Boeuf, H.
BMC Genomics 10 (1): 73. 9 February 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

Functional characterization and transcriptome analysis of embryonic stem cell-derived contractile smooth muscle cells.
Potta, S.P. and Liang, H. and Pfannkuche, K. and Winkler, J. and Chen, S. and Doss, M.X. and Obernier, K. and Kamisetti, N. and Schulz, H. and Huebner, N. and Hescheler, J. and Sachinidis, A.
Hypertension 53 (2): 196-204. February 2009

Genome-wide linkage scan for bladder exstrophy-epispadias complex.
Ludwig, M. and Rueschendorf, F. and Saar, K. and Huebner, N. and Siekmann, L. and Boyadjiev, S.A. and Reutter, H.
Birth Defects Research A 85 (2): 174-8. February 2009

Transcriptional profiling of CD31(+) cells isolated from murine embryonic stem cells.
Mariappan, D. and Winkler, J. and Chen, S. and Schulz, H. and Hescheler, J. and Sachinidis, A.
Genes to Cells 14 (2): 243-260. February 2009

A systematic approach to mapping recessive disease genes in individuals from outbred populations.
Hildebrandt, F. and Heeringa, S.F. and Rueschendorf, F. and Attanasio, M. and Nuernberg, G. and Becker, C. and Seelow, D. and Huebner, N. and Chernin, G. and Vlangos, C.N. and Zhou, W. and O'Toole, J.F. and Hoskins, B.E. and Wolf, M.T. and Hinkes, B.G. and Chaib, H. and Ashraf, S. and Allen, S.J. and Vega-Warner, V. and Wise, E. and Harville, H.M. and Lyons, R.H. and Washburn, J. and Macdonald, J. and Nuernberg, P. and Otto, E.A.
PLoS Genetics 5 (1): e1000353. 23 January 2009

In HCMV-exposed HUVEC, P52/RelB regulatory factors mediate activation of the human PAR1 gene promoter.
Popovic, M. and Paskas, S. and Zivkovic, M. and Duric-Delic, T. and Stankovic, A. and Burysek, L.
Archives of Biological Sciences 61 (4): 613-618. 2009

Genome-wide co-expression analysis in multiple tissues.
Grieve, I.C. and Dickens, N.J. and Pravenec, M. and Kren, V. and Huebner, N. and Cook, S.A. and Aitman, T.J. and Petretto, E. and Mangion, J.
PLoS ONE 3 (12): e4033. 29 December 2008

PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
Decker, E. and Stellzig-Eisenhauer, A. and Fiebig, B.S. and Rau, C. and Kress, W. and Saar, K. and Rueschendorf, F. and Huebner, N. and Grimm, T. and Weber, B.H.
American Journal of Human Genetics 83 (6): 781-786. 12 December 2008

Potential relevance of alpha(1)-adrenergic receptor autoantibodies in refractory hypertension.
Wenzel, K. and Haase, H. and Wallukat, G. and Derer, W. and Bartel, S. and Homuth, V. and Herse, F. and Huebner, N. and Schulz, H. and Janczikowski, M. and Lindschau, C. and Schroeder, C. and Verlohren, S. and Morano, I. and Mueller, D.N. and Luft, F.C. and Dietz, R. and Dechend, R. and Karczewski, P.
PLoS ONE 3 (11): e3742. 17 November 2008

Executive attention in schizophrenic males and the impact of COMT Val108/158Met genotype on performance on the Attention Network Test.
Opgen-Rhein, C. and Neuhaus, A.H. and Urbanek, C. and Hahn, E. and Sander, T. and Dettling, M.
Schizophrenia Bulletin 34 (6): 1231-1239. November 2008

Catechol-O-methyltransferase val158met genotype influences neural processing of reward anticipation.
Schmack, K. and Schlagenhauf, F. and Sterzer, P. and Wrase, J. and Beck, A. and Dembler, T. and Kalus, P. and Puls, I. and Sander, T. and Heinz, A. and Gallinat, J.
NeuroImage 42 (4): 1053-8119. 1 October 2008

A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults.
Gotthardt, D. and Runz, H. and Keitel, V. and Fischer, C. and Flechtenmacher, C. and Wirtenberger, M. and Weiss, K.H. and Imparato, S. and Braun, A. and Hemminki, K. and Stremmel, W. and Rueschendorf, F. and Stiehl, A. and Kubitz, R. and Burwinkel, B. and Schirmacher, P. and Knisely, A.S. and Zschocke, J. and Sauer, P.
Hepatology 48 (4): 1157-1166. 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

Maternal environment interacts with modifier genes to influence progression of nephrotic syndrome.
Ratelade, J. and Lavin, T.A. and Muda, A.O. and Morisset, L. and Mollet, G. and Boyer, O. and Chen, D.S. and Henger, A. and Kretzler, M. and Huebner, N. and Thery, C. and Gubler, M.C. and Montagutelli, X. and Antignac, C. and Esquivel, E.L.
Journal of the American Society of Nephrology 19 (8): 1491-1499. August 2008

Localization of genetic loci controlling hydronephrosis in the Brown Norway rat and its association with hematuria.
Kota, L.T. and Schulz, H. and Falak, S. and Huebner, N. and Osborne-Pellegrin, M.
Physiological Genomics 34 (2): 215-224. 15 July 2008

S100A1 deficiency results in prolonged ventricular repolarization in response to sympathetic activation.
Ackermann, G.E. and Domenighetti, A.A. and Deten, A. and Bonath, I. and Marenholz, I. and Pedrazzini, T. and Erne, P. and Heizmann, C.W.
General Physiology and Biophysics 27 (2): 127-142. June 2008

Human aging magnifies genetic effects on executive functioning and working memory.
Nagel, I.E. and Chicherio, C. and Li, S.C. and von Oertzen, T. and Sander, T. and Villringer, A. and Heekeren, H.R. and Baeckman, L. and Lindenberger, U.
Frontiers in Human Neuroscience 2 : 1. 3 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

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

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

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

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

The effects of chromosome 17 on features of the metabolic syndrome in the Lyon Hypertensive (LH) rat.
Gilibert, S. and Kwitek, A.E. and Huebner, N. and Tschannen, M. and Jacob, H.J. and Sassard, J. and Bataillard, A.P.
Physiological Genomics 33 (2): 212-217. 22 April 2008

Histone deacetylase inhibition accelerates the early events of stem cell differentiation: transcriptomic and epigenetic analysis.
Karantzali, E. and Schulz, H. and Hummel, O. and Huebner, N. and Hatzopoulos, A. and Kretsovali, A.
Genome Biology 9 (4): R65. 4 April 2008

Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype.
Puk, O. and Loester, J. and Dalke, C. and Soewarto, D. and Fuchs, H. and Budde, B. and Nuernberg, P. and Wolf, E. and de Angelis, M.H. and Graw, J.
Investigative Ophthalmology & Visual Science 49 (4): 1525-1532. April 2008

Association between variation in the vesicular monoamine transporter 1 gene on chromosome 8p and anxiety-related personality traits.
Lohoff, F.W. and Lautenschlager, M. and Mohr, J. and Ferraro, T.N. and Sander, T. and Gallinat, J.
Neuroscience Letters 434 (1): 41-45. 21 March 2008

Co-replication analyses of naturally occurring defective hepatitis B virus variants with wild-type.
Maerschenz, S. and Brinckmann, A. and Nuernberg, P. and Krueger, D.H. and Guenther, S. and Meisel, H.
Virology 372 (2): 247-259. 15 March 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

Increased prevalence of microangiopathic brain lesions among siblings of patients with lacunar stroke. A prospective multicenter study.
Leistner, S. and Huebner, N. and Faulstich, A. and Ludwig, D. and Rees, M. and Marx, P. and Langer, B. and Nikolova, A. and Hartmann, A. and Koennecke, H.C.
European Neurology 59 (3-4): 143-147. February 2008

Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians.
Kayser, M. and Lao, O. and Saar, K. and Brauer, S. and Wang, X. and Nuernberg, P. and Trent, R.J. and Stoneking, M.
American Journal of Human Genetics 82 (1): 194-198. 10 January 2008

Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy.
Tang, B. and Sander, T. and Craven, K.B. and Hempelmann, A. and Escayg, A.
Neurobiology of Diseases 29 (1): 59-70. January 2008

A common haplotype of the IL-31 gene influencing gene expression is associated with nonatopic eczema.
Schulz, F. and Marenholz, I. and Foelster-Holst, R. and Chen, C. and Sternjak, A. and Baumgrass, R. and Esparza-Gordillo, J. and Grueber, C. and Nickel, R. and Schreiber, S. and Stoll, M. and Kurek, M. and Rueschendorf, F. and Huebner, N. and Wahn, U. and Lee, Y.A.
Journal of Allergy and Clinical Immunology 120 (5): 1097-1102. November 2007

Dysfunction of dysferlin-deficient hearts.
Wenzel, K. and Geier, C. and Qadri, F. and Huebner, N. and Schulz, H. and Erdmann, B. and Gross, V. and Bauer, D. and Dechend, R. and Dietz, R. and Osterziel, K.J. and Spuler, S. and Oezcelik, C.
Journal of Molecular Medicine 85 (11): 1203-1214. November 2007

SNP genome scanning localises oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner ear disease and FADD in ocular coloboma.
Gregory-Evans, C.Y. and Moosajee, M. and Hodges, M.D. and Mackay, D.S. and Game, L. and Vargesson, N. and Bloch-Zupan, A. and Rueschendorf, F. and Santos-Pinto, L. and Wackens, G. and Gregory-Evans, K.
Human Molecular Genetics 16 (20): 2482-2493. 15 October 2007

Association and linkage of allelic variants of the dopamine transporter gene in ADHD.
Friedel, S. and Saar, K. and Sauer, S. and Dempfle, A. and Walitza, S. and Renner, T. and Romanos, M. and Freitag, C. and Seitz, C. and Palmason, H. and Scherag, A. and Windemuth-Kieselbach, C. and Schimmelmann, B.G. and Wewetzer, C. and Meyer, J. and Warnke, A. and Lesch, K.P. and Reinhardt, R. and Herpertz-Dahlmann, B. and Linder, M. and Hinney, A. and Remschmidt, H. and Schaefer, H. and Konrad, K. and Huebner, N. and Hebebrand, J.
Molecular Psychiatry 12 (10): 923-933. October 2007

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.
Hoyer, J. and Dreweke, A. and Becker, C. and Goehring, I. and Thiel, C.T. and Peippo, M.M. and Rauch, R. and Hofbeck, M. and Trautmann, U. and Zweier, C. and Zenker, M. and Hueffmeier, U. and Kraus, C. and Ekici, A.B. and Rueschendorf, F. and Nuernberg, P. and Reis, A. and Rauch, A.
Journal of Medical Genetics 44 (10): 629-636. October 2007

Association of attentional network function with exon 5 variations of the CHRNA4 gene.
Winterer, G. and Musso, F. and Konrad, A. and Vucurevic, G. and Stoeter, P. and Sander, T. and Gallinat, J.
Human Molecular Genetics 16 (18): 2165-2174. 15 September 2007

Transcriptomic and phenotypic analysis of murine embryonic stem cell derived BMP2+ lineage cells: an insight into mesodermal patterning.
Doss, M.X. and Chen, S. and Winkler, J. and Hippler-Altenburg, R. and Odenthal, M. and Wickenhauser, C. and Balaraman, S. and Schulz, H. and Hummel, O. and Huebner, N. and Ghosh-Choudhury, N. and Sotiriadou, I. and Hescheler, J. and Sachinidis, A.
Genome Biology 8 (9): R184. 4 September 2007

Gender-dependent association of the functional catechol-O-methyltransferase Val158Met genotype with sensation seeking personality trait.
Lang, U.E. and Bajbouj, M. and Sander, T. and Gallinat, J.
Neuropsychopharmacology 32 (9): 1950-1955. September 2007

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

Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis.
Soederhaell, C. and Marenholz, I. and Kerscher, T. and Rueschendorf, F. and Esparza-Gordillo, J. and Worm, M. and Gruber, C. and Mayr, G. and Albrecht, M. and Rohde, K. and Schulz, H. and Wahn, U. and Huebner, N. and Lee, Y.A.
PLoS Biology 5 (9): e242. September 2007

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy.
Everett, K. and Chioza, B. and Aicardi, J. and Aschauer, H. and Brouwer, O. and Callenbach, P. and Covanis, A. and Dooley, J. and Dulac, O. and Durner, M. and Eeg-Olofsson, O. and Feucht, M. and Friis, M. and Guerrini, R. and Heils, A. and Kjeldsen, M. and Nabbout, R. and Sander, T. and Wirrell, E. and McKeigue, P. and Robinson, R. and Taske, N. and Gardiner, M.
Epilepsy Research 75 (2-3): 145-153. July 2007

Quantitative genetic basis of arterial phenotypes in the Brown Norway rat.
Kota, L. and Osborne-Pellegrin, M. and Schulz, H. and Behmoaras, J. and Coutard, M. and Gong, M. and Huebner, N.
Physiological Genomics 30 (1): 17-25. 1 June 2007

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus.
Lee-Kirsch, M.A. and Chowdhury, D. and Harvey, S. and Gong, M. and Senenko, L. and Engel, K. and Pfeiffer, C. and Hollis, T. and Gahr, M. and Perrino, F.W. and Lieberman, J. and Hubner, N.
Journal of Molecular Medicine 85 (5): 531-537. May 2007

Expression of the protein phosphatase 1 inhibitor KEPI is downregulated in breast cancer cell lines and tissues and involved in the regulation of the tumor suppressor EGR1 via the MEK-ERK pathway.
Wenzel, K. and Daskalow, K. and Herse, F. and Seitz, S. and Zacharias, U. and Schenk, J.A. and Schulz, H. and Huebner, N. and Micheel, B. and Schlag, P.M. and Osterziel, K.J. and Ozcelik, C. and Scherneck, S. and Jandrig, B.
Biological Chemistry 388 (5): 489-495. May 2007

Global transcriptome analysis of murine embryonic stem cell-derived cardiomyocytes.
Doss, M.X. and Winkler, J. and Chen, S. and Hippler-Altenburg, R. and Sotiriadou, I. and Halbach, M. and Pfannkuche, K. and Liang, H. and Schulz, H. and Hummel, O. and Huebner, N. and Rottscheidt, R. and Hescheler, J. and Sachinidis, A.
Genome Biology 8 (4): R56. 11 April 2007

A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy.
Cavalleri, G.L. and Walley, N.M. and Soranzo, N. and Mulley, J. and Doherty, C.P. and Kapoor, A. and Depondt, C. and Lynch, J.M. and Scheffer, I.E. and Heils, A. and Gehrmann, A. and Kinirons, P. and Gandhi, S. and Satishchandra, P. and Wood, N.W. and Anand, A. and Sander, T. and Berkovic, S.F. and Delanty, N. and Goldstein, D.B. and Sisodiya, S.M.
Epilepsia 48 (4): 706-712. April 2007

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice.
Leach, N.T. and Sun, Y. and Michaud, S. and Zheng, Y. and Ligon, K.L. and Ligon, A.H. and Sander, T. and Korf, B.R. and Lu, W. and Harris, D.J. and Gusella, J.F. and Maas, R.L. and Quade, B.J. and Cole, A.J. and Kelz, M.B. and Morton, C.C.
American Journal of Human Genetics 80 (4): 792-799. April 2007

Family-based association study of serotonergic candidate genes and attention-deficit/hyperactivity disorder in a German sample.
Heiser, P. and Dempfle, A. and Friedel, S. and Konrad, K. and Hinney, A. and Kiefl, H. and Walitza, S. and Bettecken, T. and Saar, K. and Linder, M. and Warnke, A. and Herpertz-Dahlmann, B. and Schaefer, H. and Remschmidt, H. and Hebebrand, J.
Journal of Neural Transmission 114 (4): 513-521. April 2007

Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy.
Hempelmann, A. and Cobilanschi, J. and Heils, A. and Muhle, H. and Stephani, U. and Weber, Y. and Lerche, H. and Sander, T.
Epilepsy Research 74 (1): 28-32. April 2007

Linkage and association analysis of CACNG3 in childhood absence epilepsy.
Everett, K.V. and Chioza, B. and Aicardi, J. and Aschauer, H. and Brouwer, O. and Callenbach, P. and Covanis, A. and Dulac, O. and Eeg-Olofsson, O. and Feucht, M. and Friis, M. and Goutieres, F. and Guerrini, R. and Heils, A. and Kjeldsen, M. and Lehesjoki, A.E. and Makoff, A. and Nabbout, R. and Olsson, I. and Sander, T. and Siren, A. and McKeigue, P. and Robinson, R. and Taske, N. and Rees, M. and Gardiner, M.
European Journal of Human Genetics 15 (4): 463-472. April 2007

Association of the met66 allele of brain-derived neurotrophic factor (BDNF) with smoking.
Lang, U.E. and Sander, T. and Lohoff, F.W. and Hellweg, R. and Bajbouj, M. and Winterer, G. and Gallinat, J.
Psychopharmacology 190 (4): 433-439. March 2007

Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.
Lorenz, S. and Heils, A. and Kasper, J.M. and Sander, T.
American Journal of Medical Genetics B 144B (1): 10-13. 5 January 2007

Linkage analysis using sex-specific recombination fractions with GENEHUNTER-MODSCORE.
Dietter, J. and Mattheisen, M. and Fuerst, R. and Rueschendorf, F. and Wienker, T.F. and Strauch, K.
Bioinformatics 23 (1): 64-70. 1 January 2007

Genetic variations of the NR3A subunit of the NMDA receptor modulate prefrontal cerebral activity in humans.
Gallinat, J. and Goetz, T. and Kalus, P. and Bajbouj, M. and Sander, T. and Winterer, G.
Journal of Cognitive Neuroscience 19 (1): 59-68. January 2007

Towards characterization of palmoplantar keratoderma caused by gain-of-function mutation in loricrin: analysis of a family and review of the literature.
Gedicke, M.M. and Traupe, H. and Fischer, B. and Tinschert, S. and Hennies, H.C.
British Journal of Dermatology 154 (1): 167-171. December 2006

Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar I disorder.
Lohoff, F.W. and Dahl, J.P. and Ferraro, T.N. and Arnold, S.E. and Gallinat, J. and Sander, T. and Berrettini, W.H.
Neuropsychopharmacology 31 (12): 2739-2747. December 2006

Dysregulation of the peripheral and adipose tissue endocannabinoid system in human abdominal obesity.
Blueher, M. and Engeli, S. and Kloeting, N. and Berndt, J. and Fasshauer, M. and Batkai, S. and Pacher, P. and Schoen, M.R. and Jordan, J. and Stumvoll, M.
Diabetes 55 (11): 3053-3060. 1 November 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

Heritability and tissue specificity of expression quantitative trait loci.
Petretto, E. and Mangion, J. and Dickens, N.J. and Cook, S.A. and Kumaran, M.K. and Lu, H. and Fischer, J. and Maatz, H. and Kren, V. and Pravenec, M. and Hubner, N. and Aitman, T.J.
PLoS Genetics 2 (10): 1625-1633. 20 October 2006

Reciprocal congenic lines for a major stroke-QTL on rat chromosome 1.
Rubattu, S. and Hubner, N. and Ganten, U. and Evangelista, A. and Stanzione, R. and Angelantonio, E.D. and Plehm, R. and Langanki, R. and Gianazza, E. and Sironi, L. and D'Amati, G. and Volpe, M.
Physiological Genomics 27 (2): 108-113. 11 October 2006

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Rauch, A. and Hoyer, J. and Guth, S. and Zweier, C. and Kraus, C. and Becker, C. and Zenker, M. and Hueffmeier, U. and Thiel, C. and Rueschendorf, F. and Nuernberg, P. and Reis, A. and Trautmann, U.
American Journal of Medical Genetics A 140A (19): 2063-2074. 1 October 2006

Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy.
Hempelmann, A. and Heils, A. and Sander, T.
Epilepsy Research 71 (2-3): 223-228. October 2006

Exploration of the genetic architecture of idiopathic generalized epilepsies.
Hempelmann, A. and Taylor, K.P. and Heils, A. and Lorenz, S. and Prud'homme, J.F. and Nabbout, R. and Dulac, O. and Rudolf, G. and Zara, F. and Bianchi, A. and Robinson, R. and Gardiner, R.M. and Covanis, A. and Lindhout, D. and Stephani, U. and Elger, C.E. and Weber, Y.G. and Lerche, H. and Nuernberg, P. and Kron, K.L. and Scheffer, I.E. and Mulley, J.C. and Berkovic, S.F. and Sander, T.
Epilepsia 47 (10): 1682-1690. October 2006

Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.
Lee-Kirsch, M.A. and Gong, M. and Schulz, H. and Rüschendorf, F. and Stein, A. and Pfeiffer, C. and Ballarini, A. and Gahr, M. and Hubner, N. and Linne, M.
American Journal of Human Genetics 79 (4): 731-737. October 2006

Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.
Marenholz, I. and Nickel, R. and Rueschendorf, F. and Schulz, F. and Esparza-Gordillo, J. and Kerscher, T. and Grueber, C. and Lau, S. and Worm, M. and Keil, T. and Kurek, M. and Zaluga, E. and Wahn, U. and Lee, Y.A.
Journal of Allergy and Clinical Immunology 118 (4): 866-871. October 2006

SNP-Based analysis of genetic substructure in the German population.
Steffens, M. and Lamina, C. and Illig, T. and Bettecken, T. and Vogler, R. and Entz, P. and Suk, E.K. and Toliat, M.R. and Klopp, N. and Caliebe, A. and Koenig, I.R. and Koehler, K. and Luedemann, J. and Lacava, A.D. and Fimmers, R. and Lichtner, P. and Ziegler, A. and Wolf, A. and Krawczak, M. and Nuernberg, P. and Hampe, J. and Schreiber, S. and Meitinger, T. and Wichmann, H.E. and Roeder, K. and Wienker, T.F. and Baur, M.P.
Human Heredity 62 (1): 20-29. October 2006

Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosis.
Maerschenz, S. and Endres, A.S. and Brinckmann, A. and Heise, T. and Kristiansen, G. and Nuernberg, P. and Krueger, D.H. and Guenther, S. and Meisel, H.
Gastroenterology 131 (3): 765-780. September 2006

Haplotype block structure is conserved across mammals.
Guryev, V. and Smits, B.M. and van de Belt, J. and Verheul, M. and Hubner, N. and Cuppen, E.
PLoS Genetics 2 (7): 1111-1118. 28 July 2006

Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia.
Hempelmann, A. and Kumar, S. and Muralitharan, S. and Sander, T.
Neuroscience Letters 402 (1-2): 118-120. 10 July 2006

Investigation of the HLA-DRB1 locus in alopecia areata.
Entz, P. and Blaumeiser, B. and Betz, R.C. and Lambert, J. and Seymons, K. and Eigelshoven, S. and Hanneken, S. and Kruse, R. and Nuernberg, P. and Nagy, M. and Noethen, M.M.
European Journal of Dermatology 16 (4): 363-367. July 2006

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.
Wolf, M.T. and Mucha, B.E. and Hennies, H.C. and Attanasio, M. and Panther, F. and Zalewski, I. and Karle, S.M. and Otto, E.A. and Deltas, C.C. and Fuchshuber, A. and Hildebrandt, F.
Human Genetics 119 (6): 649-658. July 2006

Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4.
von Brevern, M. and Ta, N. and Shankar, A. and Wiste, A. and Siegel, A. and Radtke, A. and Sander, T. and Escayg, A.
Headache 46 (7): 1136-1141. July 2006

Integrated gene expression profiling and linkage analysis in the rat.
Petretto, E. and Mangion, J. and Pravanec, M. and Hubner, N. and Aitman, T.J.
Mammalian Genome 17 (6): 480-489. June 2006

Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.
Todt, I. and Hennies, H.C. and Kuester, W. and Smolle, J. and Rademacher, G. and Mutze, S. and Basta, D. and Eisenschenk, A. and Ernst, A.
Audiology & Neuro-Otology 11 (4): 242-248. June 2006

Association of BRD2 polymorphisms with photoparoxysmal response.
Lorenz, S. and Taylor, K.P. and Gehrmann, A. and Becker, T. and Muhle, H. and Gresch, M. and Tauer, U. and Sander, T. and Stephani, U.
Neuroscience Letters 400 (1-2): 135-139. 29 May 2006

A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family.
Vanita, V. and Singh, J.R. and Hejtmancik, J.F. and Nuernberg, P. and Hennies, H.C. and Singh, D. and Sperling, K.
Molecular Vision 12 : 518-522. 22 May 2006

Evaluation of CACNA1H in European patients with childhood absence epilepsy.
Chioza, B. and Everett, K. and Aschauer, H. and Brouwer, O. and Callenbach, P. and Covanis, A. and Dulac, O. and Durner, M. and Eeg-Olofsson, O. and Feucht, M. and Friis, M. and Heils, A. and Kjeldsen, M. and Larsson, K. and Lehesjoki, A.E. and Nabbout, R. and Olsson, I. and Sander, T. and Siren, A. and Robinson, R. and Rees, M. and Gardiner, R.M.
Epilepsy Research 69 (2): 177-181. May 2006

Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity.
Lorenz, S. and Heils, A. and Taylor, K.P. and Gehrmann, A. and Muhle, H. and Gresch, M. and Becker, T. and Tauer, U. and Stephani, U. and Sander, T.
Neuroscience Letters 397 (3): 234-239. 24 April 2006

Generalized arterial calcification of infancy: two siblings with prolonged survival.
Ciana, G. and Trappan, A. and Bembi, B. and Benettoni, A. and Maso, G. and Zennaro, F. and Ruf, N. and Schnabel, D. and Rutsch, F.
European Journal of Pediatrics 165 (4): 258-263. April 2006

Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin.
Vanita, V. and Hejtmancik, J.F. and Hennies, H.C. and Guleria, K. and Nuernberg, P. and Singh, D. and Sperling, K. and Singh, J.R.
Molecular Vision 12 : 93-99. 21 February 2006

A genome-wide scan for attention-deficit/hyperactivity disorder in 155 german sib-pairs.
Hebebrand, J. and Dempfle, A. and Saar, K. and Thiele, H. and Herpertz-Dahlmann, B. and Linder, M. and Kiefl, H. and Remschmidt, H. and Hemminger, U. and Warnke, A. and Knoelker, U. and Heiser, P. and Friedel, S. and Hinney, A. and Schaefer, H. and Nuernberg, P. and Konrad, K.
Molecular Psychiatry 11 (2): 196-205. February 2006

Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis.
Fehr, C. and Sander, T. and Tadic, A. and Lenzen, K.P. and Anghelescu, I. and Klawe, C. and Dahmen, N. and Schmidt, L.G. and Szegedi, A.
Psychiatric Genetics 16 (1): 9-17. February 2006

Intrinsic inhibition of transcription factor E2A by HLH proteins ABF-1 and Id2 mediates reprogramming of neoplastic B cells in Hodgkin lymphoma.
Mathas, S. and Janz, M. and Hummel, F. and Hummel, M. and Wollert-Wulf, B. and Lusatis, S. and Anagnostopoulos, I. and Lietz, A. and Sigvardsson, M. and Jundt, F. and Joehrens, K. and Bommert, K. and Stein, H. and Doerken, B.
Nature Immunology 7 (2): 207-215. February 2006

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Garshasbi, M. and Motazacker, M.M. and Kahrizi, K. and Behjati, F. and Abedini, S.S. and Nieh, S.E. and Firouzabadi, S.G. and Becker, C. and Rueschendorf, F. and Nuernberg, P. and Tzschach, A. and Vazifehmand, R. and Erdogan, F. and Ullmann, R. and Lenzner, S. and Kuss, A.W. and Ropers, H.H. and Najmabadi, H.
Human Genetics 118 (6): 708-715. February 2006

Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease.
Zheng, W. and Rosenstiel, P. and Huse, K. and Sina, C. and Valentonyte, R. and Mah, N. and Zeitlmann, L. and Grosse, J. and Ruf, N. and Nuernberg, P. and Costello, C.M. and Onnie, C. and Mathew, C. and Platzer, M. and Schreiber, S. and Hampe, J.
Genes and Immunity 7 : 11-18. January 2006

Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populations.
Schirmer, M. and Toliat, M.R. and Haberl, M. and Suk, A. and Kamdem, L.K. and Klein, K. and Brockmoeller, J. and Nuernberg, P. and Zanger, U.M. and Wojnowski, L.
Pharmacogenetics and Genomics 16 (1): 59-71. January 2006

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.
Stadt, U.Z. and Beutel, K. and Kolberg, S. and Schneppenheim, R. and Kabisch, H. and Janka, G. and Hennies, H.C.
Human Mutation 27 (1): 62-68. January 2006

Linkage analysis of alcohol dependence using MOD scores.
Strauch, K. and Fuerst, R. and Rueschendorf, F. and Windemuth, C. and Dietter, J. and Flaquer, A. and Baur, M.P. and Wienker, T.F.
BMC Genetics 6 (Suppl 1): S162. 30 December 2005

Confirmation of association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and bipolar I disorder.
Lohoff, F.W. and Sander, T. and Ferraro, T.N. and Dahl, J.P. and Gallinat, J. and Berrettini, W.H.
American Journal of Medical Genetics B 139 (1): 51-53. 5 November 2005

Increased susceptibility to complement attack due to down-regulation of decay-accelerating factor/CD55 in dysferlin-deficient muscular dystrophy.
Wenzel, K. and Zabojszcza, J. and Carl, M. and Taubert, S. and Lass, A. and Harris, C.L. and Ho, M. and Schulz, H. and Hummel, O. and Hubner, N. and Osterziel, K.J. and Spuler, S.
Journal of Immunology 175 (9): 6219-6225. 1 November 2005

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.
Thiel, C.T. and Horn, D. and Zabel, B. and Ekici, A.B. and Salinas, K. and Gebhart, E. and Rueschendorf, F. and Sticht, H. and Spranger, J. and Mueller, D. and Zweier, C. and Schmitt, M.E. and Reis, A. and Rauch, A.
American Journal of Human Genetics 77 (5): 795-806. 1 November 2005

Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy.
Lenzen, K.P. and Heils, A. and Lorenz, S. and Hempelmann, A. and Sander, T.
Epilepsia 46 (10): 1637-1641. 1 October 2005

Role of endocytosis in cellular uptake of sex steroids.
Hammes, A. and Andreassen, T.K. and Spoelgen, R. and Raila, J. and Huebner, N. and Schulz, H. and Metzger, J. and Schweigert, F.J. and Luppa, P.B. and Nykjaer, A. and Willnow, T.E.
Cell 122 (5): 751-762. 9 September 2005

A new EF-hand containing gene EFHC2 on Xp11.4: Tentative evidence for association with juvenile myoclonic epilepsy.
Gu, W. and Sander, T. and Heils, A. and Lenzen, K.P. and Steinlein, O.K.
Epilepsy Research 66 (1-3): 91-98. 18 August 2005

Neonatal seizures with tonic clonic sequences and poor developmental outcome.
Schmitt, B. and Wohlrab, G. and Sander, T. and Steinlein, O.K. and Hajnal, B.L.
Epilepsy Research 65 (3): 161-168. 1 July 2005

Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.
Lenzen, K.P. and Heils, A. and Lorenz, S. and Hempelmann, A. and Sander, T.
Epilepsy Research 65 (1-2): 53-57. June 2005

Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease.
Hubner, 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

Genomewide linkage analysis identifies novel genetic loci for lung function in mice.
Reinhard, C. and Meyer, B. and Fuchs, H. and Stoeger, T. and Eder, G. and Rueschendorf, F. and Heyder, J. and Nuernberg, P. and Hrabe de Angelis, M. and Schulz, H.
American Journal of Respiratory and Critical Care Medicine 171 : 880-888. 7 January 2005

Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families.
Altmüller, J. and Seidel, C. and Lee, Y.A. and Loesgen, S. and Bulle, D. and Friedrichs, F. and Jellouschek, H. and Kelber, J. and Keller, A. and Schuster, A. and Silbermann, M. and Wahlen, W. and Wolff, P. and Rueschendorf, F. and Schlenvoigt, G. and Nuernberg, P. and Wjst, M.
BMC Pulmonary Medicine 5 : 1. 5 January 2005

A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3.
Kurz, T. and Altmueller, J. and Strauch, K. and Rueschendorf, F. and Heinzmann, A. and Moffatt, M.F. and Cookson, W.O.C.M. and Inacio, F. and Nuernberg, P. and Stassen, H.H. and Deichmann, K.A.
Allergy 60 : 192-199. 1 January 2005

ALOHOMORA: a tool for linkage analysis using 10K SNP array data.
Rueschendorf, F. and Nuernberg, P.
Bioinformatics 21 : 2123-2125. 1 January 2005

Association of a functional BDNF polymorphism and anxiety-related personality traits.
Lang, U.E. and Hellweg, R. and Kalus, P. and Bajbouj, M. and Lenzen, K.P. and Sander, T. and Kunz, D. and Gallinat, J.
Psychopharmacology 180 (1): 95-99. 1 January 2005

Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy.
Tauer, U. and Lorenz, S. and Lenzen, K.P. and Heils, A. and Muhle, H. and Gresch, M. and Neubauer, B.A. and Waltz, S. and Rudolf, G. and Mattheisen, M. and Strauch, K. and Schmitz, B. and Stephani, U. and Sander, T.
Annals of Neurology 57 (6): 866-873. 1 January 2005

Identification of hypertension-related genes through an integrated genomic-transcriptomic approach.
Yagil, C. and Huebner, N. and Monti, J. and Schulz, H. and Sapojnikov, M. and Luft, F.C. and Ganten, D. and Yagil, Y.
Circulation Research 96 (6): 617-625. 1 January 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

Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy.
Lenzen, K.P. and Heils, A. and Lorenz, S. and Hempelmann, A. and Hoefels, S. and Lohoff, F.W. and Schmitz, B. and Sander, T.
Epilepsy Research 63 (2): 113-118. 1 January 2005

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
Uhlenberg, B. and Schuelke, M. and Rueschendorf, F. and Ruf, N. and Kaindl, A.M. and Henneke, M. and Thiele, H. and Stoltenburg-Didinger, G. and Aksu, F. and Topaloglu, H. and Nuernberg, P. and Huebner, C. and Weschke, B. and Gaertner, J.
American Journal of Human Genetics 75 (2): 251-260. August 2004

Integrated and sequence-ordered BAC- and YAC-based physical maps for the rat genome.
Krzywinski, M. and Wallis, J. and Gösele, C. and Bosdet, I. and Chiu, R. and Graves, T. and Hummel, O. and Layman, D. and Mathewson, C. and Wye, N. and Zhu, B. and Albracht, D. and Asano, J. and Barber, S. and Brown-John, M. and Chan, S. and Chand, S. and Cloutier, A. and Davito, J. and Fjell, C. and Gaige, T. and Ganten, D. and Girn, N. and Guggenheimer, K. and Himmelbauer, H. and Kreitler, T. and Leach, S. and Lee, D. and Lehrach, H. and Mayo, M. and Mead, K. and Olson, T. and Pandoh, P. and Prabhu, A.L. and Shin, H. and Taenzer, S. and Thompson, J. and Tsai, M. and Walker, J. and Yang, G. and Sekhon, M. and Hillier, L. and Zimdahl, H. and Marziali, A. and Osoegawa, K. and Zhao, S. and Siddiqui, A. and de Jong, P.J. and Warren, W. and Mardis, E. and McPherson, J.D. and Wilson, R. and Hübner, N. and Jones, S. and Marra, M. and Schein, J.
Genome Research 14 (4): 766-779. April 2004

A SNP map of the rat genome generated from cDNA sequences.
Zimdahl, H. and Nyakatura, G. and Brandt, P. and Schulz, H. and Hummel, O. and Fartmann, B. and Brett, D. and Droege, M. and Monti, J. and Lee, Y.A. and Sun, Y.Y. and Zhao, S.Y. and Winter, E.E. and Ponting, C.P. and Chen, Y. and Kasprzyk, A. and Birney, E. and Ganten, D. and Hubner, N.
Science 303 (5659): 807-807. 1 January 2004

Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus.
Zechner, U. and Shi, W. and Hemberger, M. and Himmelbauer, H. and Otto, S. and Orth, A. and Kalscheuer, V. and Fischer, U. and Elango, R. and Reis, A. and Vogel, W. and Ropers, H. and Rueschendorf, F. and Fundele, R.
Journal of Evolutionary Biolog 17 (2): 453-460. 1 January 2004

Effect of Add1 gene transfer on blood pressure in reciprocal congenic strains of Milan rats.
Tripodi, G. and Florio, M. and Ferrandi, M. and Modica, R. and Zimdahl, H. and Hubner, N. and Ferrari, P. and Bianchi, G.
Biochemical and Biophysical Research Communications 324 (2): 562-568. 1 January 2004

Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter.
Bayer, Y. and Neumann, S. and Meyer, B. and Rueschendorf, F. and Reske, A. and Brix, T. and Hegedues, L. and Langer, P. and Nuernberg, P. and Paschke, R.
Journal of Clinical Endocrinology and Metabolism 89 (8): 4044-4052. 1 January 2004

Missense mutations of ACTA1 cause dominant congenital myopathy with cores.
Kaindl, A.M. and Rueschendorf, F. and Krause, S. and Goebel, H.H. and Koehler, K. and Becker, C. and Pongratz, D. and Mueller-Hoecker, J. and Nuernberg, P. and Stoltenburg-Didinger, G. and Lochmueller, H. and Huebner, A.
Journal of Medical Genetics 41 (11): 842-848. 1 January 2004

Molecular analysis of the sex hormone-binding globulin gene in the rat hypodactylous mutation (Hd).
Liska, F. and Gösele, C. and Kren, V. and Hübner, N. and Krenova, D.
Folia Biologica Prague 50 (2): 63-68. 1 January 2004

Molecular karyotyping using an SNP array for genomewide genotyping.
Rauch, A. and Rueschendorf, F. and Huang, J. and Trautmann, U. and Becker, C. and Thiel, C. and Jones, K.W. and Reis, A. and Nuernberg, P.
Journal of Medical Genetics 41 (12): 916-922. 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 a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.
Metherell, L.A. and Cooray, S. and Huebner, A. and Rueschendorf, F. and Naville, D. and Begeot, M. and Clark, A.J.L.
Endocrine Research 30 (4): 889-890. 1 January 2004

Genome-wide linkage reveals a locus for human essential (primary) hypertension on chromosome 12p.
Gong, M. and Zhang, H.Y. and Schulz, H. and Lee, Y.A. and Sun, K. and Bähring, S. and Luft, F.C. and Nürnberg, P. and Reis, A. and Rohde, K. and Ganten, D. and Hui, R.T. and Hübner, N.
Human Molecular Genetics 12 (11): 1273-1277. 1 June 2003

The complete mouse nebulin gene sequence and the identification of cardiac nebulin.
Kazmierski, S.T. and Antin, P.B. and Witt, C.C. and Huebner, N. and McElhinny, A.S. and Labeit, S. and Gregorio, C.C.
Journal of Molecular Biology 328 (4): 835-846. 1 May 2003

The role of Wnk4 in polygenic hypertension - A candidate gene analysis on rat chromosome 10.
Monti, J. and Zimdahl, H. and Schulz, H. and Plehm, R. and Ganten, D. and Hübner, N.
Hypertension 41 (4): 938-942. April 2003

Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure.
Gotthardt, M. and Hammer, R.E. and Hübner, N. and Monti, J. and Witt, C.C. and McNabb, M. and Richardson, J.A. and Granzier, H. and Labeit, S. and Herz, J.
Journal of Biological Chemistry 278 (8): 6059-6065. 21 February 2003

Congenic strains confirm the presence of salt-sensitivity QTLs on chromosome 1 in the Sabra rat model of hypertension.
Yagil, C. and Hubner, N. and Kreutz, R. and Ganten, D. and Yagil, Y.
Physiological Genomics 12 : 85-95. 1 January 2003

Interaction between blood pressure quantitative trait loci in rats in which trait variation at chromosome 1 is conditional upon a specific allele at chromosome 10.
Monti, J. and Plehm, R. and Schulz, H. and Ganten, D. and Kreutz, R. and Hübner, N.
Human Molecular Genetics 12 (4): 435-439. 1 January 2003

Conditional mutation of the ErbB2 (HER2) receptor in cardiomyocytes leads to dilated cardiomyopathy.
Özcelik, C. and Erdmann, B. and Pilz, B. and Wettschureck, N. and Britsch, S. and Hübner, N. and Chien, K.R. and Birchmeier, C. and Garratt, A.N.
Proceedings of the National Academy of Sciences of the United States of America 99 (13): 8880-8885. 25 June 2002

Conserved synteny in rat and mouse for a blood pressure QTL on human chromosome 17.
Zimdahl, H. and Kreitler, T. and Gösele, C. and Ganten, D. and Hübner, N.
Hypertension 39 (6): 1050-1052. 1 June 2002

A gene expression analysis in rat kidney following high and low salt intake.
Barta, P. and Monti, J. and Maass, P.G. and Gorzelniak, K. and Müller, D.N. and Dechend, R. and Luft, F.C. and Hübner, N. and Sharma, A.M.
Journal of Hypertension 20 : 1115-1120. 1 January 2002

Expression analysis using oligonucleotide microarrays in mice lacking bradykinin type 2 receptors.
Monti, J. and Gross, V. and Luft, F.C. and Milia, A.F. and Schulz, H. and Dietz, R. and Sharma, A.M. and Hübner, N.
Hypertension 38 (1): E1-E3. 1 January 2001

Congenic substitution mapping excludes Sa as a candidate gene locus for a blood pressure quantitative trait locus on rat chromosome 1.
Hübner, N. and Lee, Y.A. and Lindpaintner, K. and Ganten, D. and Kreutz, R.
Hypertension 34 : 643-648. 1 January 1999

Tissue and development specific expression of multiple alternatively spliced transcripts of rat neuronal nitric oxide synthase.
Lee, M.A. and Cai, L. and Hübner, N. and Lee, Y.A. and Lindpaintner, K.
Journal of Clinical Investigation 100 (6): 1507-1512. 15 September 1997

Evidence for primary genetic determination of heart rate regulation. Chromosomal mapping of a genetic locus in the rat.
Kreutz, R. and Stock, P. and Struk, B. and Hübner, N. and Ganten, D. and Lindpaintner, K.
Circulation 96 (4): 1078-1081. 19 August 1997

Rat embryonic stem cells: a progress report.
Brenin, D.R. and Look, J. and Bader, M. and Hübner, N. and Levan, G. and Iannaccone, P.
Transplantation Proceedings 29 : 1761-1765. 1 January 1997

Role of the alpha, beta, and gamma subunits of epithelial sodium channel in a model of polygenic hypertension.
Kreutz, R. and Struk, B. and Rubattu, S. and Hübner, N. and Szpirer, J. and Szpirer, C. and Ganten, D. and Lindpaintner, K.
Hypertension 29 : 131-136. 1 January 1997

Genetic linkage of the ACE gene to plasma angiotensin-converting enzyme activity but not to blood pressure: a quantitative trait locus confers identical complex phenotypes in human and rat hypertension.
Kreutz, R. and Hübner, N. and Ganten, D. and Lindpaintner, K.
Circulation 92 (9): 2381-2384. 1 November 1995

Dissection of a quantitative trait locus for genetic hypertension on rat chromosome 10.
Kreutz, R. and Hübner, N. and James, M.R. and Bihoreau, M.T. and Gauguier, D. and Lathrop, G.M. and Ganten, D. and Lindpaintner, K.
Proceedings of the National Academy of Sciences of the United States of America 92 (19): 8778-8782. 12 September 1995

Altered angiotensinogen amino acid sequence and plasma angiotensin II levels in genetically hypertensive rats: a study on cause and effects.
Huebner, N. and Kreutz, R. and Takahashi, S. and Ganten, D. and Lindpaintner, K.
Hypertension 26 : 279-284. 1 January 1995

Genetics in arterial hypertension - clinical and experimental aspects.
Hübner, N. and Ganten, D.
Herz 20 : 309-314. 1 January 1995

The gene encoding endothelial nitric oxide synthase, Nos3, maps to rat chromosome 4.
Hübner, N. and Kreutz, R. and Rubattu, S. and Lee, Y.A. and Ganten, D. and Allen, P.D. and Lindpaintner, K.
Mammalian Genome 6 (10): 758-759. 1 January 1995

Unlike human hypertension, blood pressure in a hereditary hypertensive rat strain shows no linkage to the angiotensinogen locus.
Hübner, N. and Kreutz, R. and Takahashi, S. and Ganten, D. and Lindpaintner, K.
Hypertension 23 (6 Pt 1): 797-801. 1 June 1994

Book Section

Gene expression analysis and next-generation sequencing.
Lindberg, E.L. and Hübner, N.
In: Encyclopedia of Molecular Pharmacology : Third Edition. Springer, Cham, 684-688. ISBN 978-3-030-57400-0 2021

Gene chip technology and its application to molecular medicine.
Zimdahl, H. and Hübner, N.
In: Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine ; Vol. 1. Springer, Berlin [u.a.], 650-655. ISBN 3-540-44244-8 2006

Gene variants, nutritional parameters, and hypertension.
Gong, M. and Hübner, N.
In: Nutritional Genomics: Impact on Health and Disease. Wiley-VCH, Weinheim, Germany, 327-354. ISBN 9783527312948 2006

The stroke-prone spontaneously hypertensive rat and its role in the genetic dissection of cardiovascular disease.
Hübner, N. and Lee, Y.A. and Kreutz, R. and Lindpaintner, K. and Ganten, D.
In: Nutrition and Stroke. Nestle Nutrition Workshop Series, Supplement . Nestec Ltd., Vevey/Lippincott-Raven Publ., Philadelphia, 87-99. 1 January 1997

Genetische Analyse des Bluthochdrucks.
Lee, Y.A. and Hübner, N. and Ganten, D.
In: Jahrbuch 1995 der Deutschen Akademie der Naturforscher Leopoldina (Halle/Saale). Leopoldina, R.3, 41 . Dt. Akad. d. Naturforscher Leopoldina, Halle/Saale, 323-333. 1 January 1995

Bluthochdruck. Die beteiligten Gene und ihre Bedeutung.
Kreutz, R. and Hübner, N. and Ganten, D. and Lindpaintner, K.
In: Wieviel Genetik braucht der Mensch. Konstanzer Bibliothek ; 23 . Univ.-Verl., Konstanz, 239-252. 1 January 1994

Review

The challenges of research data management in cardiovascular science: a DGK and DZHK position paper-executive summary.
Steffens, S. and Schröder, K. and Krüger, M. and Maack, C. and Streckfuss-Bömeke, K. and Backs, J. and Backofen, R. and Baeßler, B. and Devaux, Y. and Gilsbach, R. and Heijman, J. and Knaus, J. and Kramann, R. and Linz, D. and Lister, A.L. and Maatz, H. and Maegdefessel, L. and Mayr, M. and Meder, B. and Nussbeck, S.Y. and Rog-Zielinska, E.A. and Schulz, M.H. and Sickmann, A. and Yigit, G. and Kohl, P.
Clinical Research in Cardiology 17 October 2023 (In Press)

Evolution and implications of de novo genes in humans.
Broeils, L.A. and Ruiz-Orera, J. and Snel, B. and Hubner, N. and van Heesch, S.
Nature Ecology & Evolution 7 (6): 804-815. June 2023

Single-cell transcriptomics for the assessment of cardiac disease.
Miranda, A.M.A. and Janbandhu, V. and Maatz, H. and Kanemaru, K. and Cranley, J. and Teichmann, S.A. and Huebner, N. and Schneider, M.D. and Harvey, R.P. and Noseda, M.
Nature Reviews Cardiology 20 (5): 289-308. May 2023

Myocarditis and inflammatory cardiomyopathy: current evidence and future directions.
Tschöpe, C. and Ammirati, E. and Bozkurt, B. and Caforio, A.L.P. and Cooper, L.T. and Felix, S.B. and Hare, J.M. and Heidecker, B. and Heymans, S. and Hübner, N. and Kelle, S. and Klingel, K. and Maatz, H. and Parwani, A.S. and Spillmann, F. and Starling, R.C. and Tsutsui, H. and Seferovic, P. and Van Linthout, S.
Nature Reviews Cardiology 18 (3): 169-193. March 2021

Evolution of new proteins from translated sORFs in long non-coding RNAs.
Ruiz-Orera, J. and Villanueva-Cañas, J.L. and Albà, M.M.
Experimental Cell Research 391 (1): 111940. 1 June 2020

Sex in basic research: concepts in the cardiovascular field.
Ventura-Clapier, R. and Dworatzek, E. and Seeland, U. and Kararigas, G. and Arnal, J.F. and Brunelleschi, S. and Carpenter, T.C. and Erdmann, J. and Franconi, F. and Giannetta, E. and Glezerman, M. and Hofmann, S.M. and Junien, C. and Katai, M. and Kublickiene, K. and Koenig, I.R. and Majdic, G. and Malorni, W. and Mieth, C. and Miller, V.M. and Reynolds, R.M. and Shimokawa, H. and Tannenbaum, C. and D'Ursi, A.M. and Regitz-Zagrosek, V.
Cardiovascular Research 113 (7): 711-724. June 2017

Genetical genomic determinants of alcohol consumption in rats and humans.
Tabakoff, B. and Saba, L. and Printz, M. and Flodman, P. and Hodgkinson, C. and Goldman, D. and Koob, G. and Richardson, H.N. and Kechris, K. and Bell, R.L. and Huebner, N. and Heinig, M. and Pravenec, M. and Mangion, J. and Legault, L. and Dongier, M. and Conigrave, K.M. and Whitfield, J.B. and Saunders, J. and Grant, B. and Hoffman, P.L.
BMC Biology 7 (1): 70. 27 October 2009

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Najmabadi, H. and Motazacker, M.M. and Garshasbi, M. and Kahrizi, K. and Tzschach, A. and Chen, W. and Behjati, F. and Hadavi, V. and Nieh, S.E. and Abedini, S.S. and Vazifehmand, R. and Firouzabadi, S.G. and Jamali, P. and Falah, M. and Seifati, S.M. and Grueters, A. and Lenzner, S. and Jensen, L.R. and Rueschendorf, F. and Kuss, A.W. and Ropers, H.H.
Human Genetics 121 (1): 43-48. March 2007

Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.
Dempfle, A. and Wudy, S.A. and Saar, K. and Hagemann, S. and Friedel, S. and Scherag, A. and Berthold, L.D. and Alzen, G. and Gortner, L. and Blum, W.F. and Hinney, A. and Nuernberg, P. and Schaefer, H. and Hebebrand, J.
Human Molecular Genetics 15 (18): 2772-2783. 15 September 2006

Molecular genetics of human hypertension.
Gong, M. and Hubner, N.
Clinical Science 110 (3): 315-326. March 2006

Novel integrative approaches to the identification of candidate genes in hypertension.
Hubner, N. and Yagil, C. and Yagil, Y.
Hypertension 47 (1): 1-5. January 2006

Genome sequence of the Brown Norway rat yields insights into mammalian evolution.
Gibbs, R.A. and Weinstock, G.M. and Metzker, M.L. and Muzny, D.M. and Sodergren, E.J. and Scherer, S. and Scott, G. and Steffen, D. and Worley, K.C. and Burch, P.E. and Okwuonu, G. and Hines, S. and Lewis, L. and DeRamo, C. and Delgado, O. and Dugan-Rocha, S. and Miner, G. and Morgan, M. and Hawes, A. and Gill, R. and Holt, R.A. and Adams, M.D. and Amanatides, P.G. and Baden-Tillson, H. and Barnstead, M. and Chin, S. and Evans, C.A. and Ferriera, S. and Fosler, C. and Glodek, A. and Gu, Z. and Jennings, D. and Kraft, C.L. and Nguyen, T. and Pfannkoch, C.M. and Sitter, C. and Sutton, G.G. and Venter, J.C. and Woodage, T. and Smith, D. and Lee, H.M. and Gustafson, E. and Cahill, P. and Kana, A. and Doucette-Stamm, L. and Weinstock, K. and Fechtel, K. and Weiss, R.B. and Dunn, D.M. and Green, E.D. and Blakesley, R.W. and Bouffard, G.G. and de Jong, P.J. and Osoegawa, K. and Zhu, B. and Marra, M. and Schein, J. and Bosdet, I. and Fjell, C. and Jones, S. and Krzywinski, M. and Mathewson, C. and Siddiqui, A. and Wye, N. and McPherson, J. and Zhao, S. and Fraser, C.M. and Shetty, J. and Shatsman, S. and Geer, K. and Chen, Y. and Abramzon, S. and Nierman, W.C. and Havlak, P.H. and Chen, R. and Durbin, K.J. and Egan, A. and Ren, Y. and Song, X.Z. and Li, B. and Liu, Y. and Qin, X. and Cawley, S. and Worley, K.C. and Cooney, A.J. and D'Souza, L.M. and Martin, K. and Wu, J.Q. and Gonzalez-Garay, M.L. and Jackson, A.R. and Kalafus, K.J. and McLeod, M.P. and Milosavljevic, A. and Virk, D. and Volkov, A. and Wheeler, D.A. and Zhang, Z. and Bailey, J.A. and Eichler, E.E. and Tuzun, E. and Birney, E. and Mongin, E. and Ureta-Vidal, A. and Woodwark, C. and Zdobnov, E. and Bork, P. and Suyama, M. and Torrents, D. and Alexandersson, M. and Trask, B.J. and Young, J.M. and Huang, H. and Wang, H. and Xing, H. and Daniels, S. and Gietzen, D. and Schmidt, J. and Stevens, K. and Vitt, U. and Wingrove, J. and Camara, F. and Alba, M.M. and Abril, J.F. and Guigo, R. and Smit, A. and Dubchak, I. and Rubin, E.M. and Couronne, O. and Poliakov, A. and Hübner, N. and Ganten, D. and Goesele, C. and Hummel, O. and Kreitler, T. and Lee, Y.A. and Monti, J. and Schulz, H. and Zimdahl, H. and Himmelbauer, H. and Lehrach, H. and Jacob, H.J. and Bromberg, S. and Gullings-Handley, J. and Jensen-Seaman, M.I. and Kwitek, A.E. and Lazar, J. and Pasko, D. and Tonellato, P.J. and Twigger, S. and Ponting, C.P. and Duarte, J.M. and Rice, S. and Goodstadt, L. and Beatson, S.A. and Emes, R.D. and Winter, E.E. and Webber, C. and Brandt, P. and Nyakatura, G. and Adetobi, M. and Chiaromonte, F. and Elnitski, L. and Eswara, P. and Hardison, R.C. and Hou, M. and Kolbe, D. and Makova, K. and Miller, W. and Nekrutenko, A. and Riemer, C. and Schwartz, S. and Taylor, J. and Yang, S. and Zhang, Y. and Lindpaintner, K. and Andrews, T.D. and Caccamo, M. and Clamp, M. and Clarke, L. and Curwen, V. and Durbin, R. and Eyras, E. and Searle, S.M. and Cooper, G.M. and Batzoglou, S. and Brudno, M. and Sidow, A. and Stone, E.A. and Venter, J.C. and Payseur, B.A. and Bourque, G. and Lopez-Otin, C. and Puente, X.S. and Chakrabarti, K. and Chatterji, S. and Dewey, C. and Pachter, L. and Bray, N. and Yap, V.B. and Caspi, A. and Tesler, G. and Pevzner, P.A. and Haussler, D. and Roskin, K.M. and Baertsch, R. and Clawson, H. and Furey, T.S. and Hinrichs, A.S. and Karolchik, D. and Kent, W.J. and Rosenbloom, K.R. and Trumbower, H. and Weirauch, M. and Cooper, D.N. and Stenson, P.D. and Ma, B. and Brent, M. and Arumugam, M. and Shteynberg, D. and Copley, R.R. and Taylor, M.S. and Riethman, H. and Mudunuri, U. and Peterson, J. and Guyer, M. and Felsenfeld, A. and Old, S. and Mockrin, S. and Collins, F.
Nature 428 (6982): 493-521. 1 April 2004

Congenic rat strains are important tools for the genetic dissection of essential hypertension.
Kreutz, R. and Hübner, N.
Seminars in Nephrology 22 (2): 135-147. 1 January 2002

Letter

Standardized annotation of translated open reading frames.
Mudge, J.M. and Ruiz-Orera, J. and Prensner, J.R. and Brunet, M.A. and Calvet, F. and Jungreis, I. and Gonzalez, Jo.M. and Magrane, M. and Martinez, T.F. and Schulz, J.F. and Yang, Y.T. and Albà, M.M. and Aspden, J.L. and Baranov, P.V. and Bazzini, A.A. and Bruford, E. and Martin, M.J. and Calviello, L. and Carvunis, A.R. and Chen, J. and Couso, J.P. and Deutsch, E.W. and Flicek, P. and Frankish, A. and Gerstein, M. and Hubner, N. and Ingolia, N.T. and Kellis, M. and Menschaert, G. and Moritz, R.L. and Ohler, U. and Roucou, X. and Saghatelian, A. and Weissman, J.S. and van Heesch, S.
Nature Biotechnology 40 (7): 994–999. July 2022

Evaluation of food allergy candidate loci in the Genetics of Food Allergy Study.
Marenholz, I. and Grosche, S. and Rüschendorf, F. and Kalb, B. and Blumchen, K. and Schlags, R. and Harandi, N. and Price, M. and Hansen, G. and Seidenberg, J. and Yürek, S. and Homuth, G. and Schmidt, C.O. and Nöthen, M.M. and Hubner, N. and Niggemann, B. and Beyer, K. and Lee, Y.A.
Journal of Allergy and Clinical Immunology 142 (4): 1368-1370. October 2018

SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer susceptibility.
Günther, C. and Lee-Kirsch, M.A. and Eckhard, J. and Matanovic, A. and Kerscher, T. and Rüschendorf, F. and Klein, B. and Berndt, N. and Zimmermann, N. and Flachmeier, C. and Thuß, T. and Lucas, N. and Marenholz, I. and Esparza-Gordillo, J. and Hübner, N. and Traupe, H. and Delaporte, E. and Lee, Y.A.
Journal of Investigative Dermatology 138 (6): 1428-1431. June 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

A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.
Schaarschmidt, H. and Ellinghaus, D. and Rodríguez, E. and Kretschmer, A. and Baurecht, H. and Lipinski, S. and Meyer-Hoffert, U. and Harder, J. and Lieb, W. and Novak, N. and Fölster-Holst, R. and Esparza-Gordillo, J. and Marenholz, I. and Ruschendorf, F. and Hubner, N. and Reischl, E. and Waldenberger, M. and Gieger, C. and Illig, T. and Kabesch, M. and Zhang, X.J. and Xiao, F.L. and Lee, Y.A. and Franke, A. and Weidinger, S.
Journal of Allergy and Clinical Immunology 136 (3): 802-806. September 2015

Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A.
Auer, F. and Rueschendorf, F. and Gombert, M. and Husemann, P. and Ginzel, S. and Izraeli, S. and Harit, M. and Weintraub, M. and Weinstein, O.Y. and Lerer, I. and Stepensky, P. and Borkhardt, A. and Hauer, J.
Leukemia 28 (5): 1136-1138. May 2014

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

The Met allele of the BDNF Val66Met polymorphism is associated with increased BDNF serum concentrations.
Lang, U.E. and Hellweg, R. and Sander, T. and Gallinat, J.
Molecular Psychiatry 14 (2): 120-122. February 2009

Association of CYP2D6 genotypes and personality traits in healthy individuals.
Kirchheiner, J. and Lang, U. and Stamm, T. and Sander, T. and Gallinat, J.
Journal of Clinical Psychopharmacology 26 (4): 440-442. August 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 Hubner, N.
Nature Genetics 38 (8): 858-859. August 2006

Editorial

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

Preprint

Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Kühnisch, J. and Theisen, S. and Dartsch, J. and Fritsche-Guenther, R. and Kirchner, M. and Obermayer, B. and Bauer, A. and Kahlert, A.K. and Rothe, M. and Beule, D. and Heuser, A. and Mertins, P. and Kirwan, J.A. and Berndt, N. and MacRae, C.A. and Hubner, N. and Klaassen, S.
bioRxiv : 2023.01.10.523243. 10 January 2023

Aging-regulated TUG1 is dispensable for endothelial cell function.
Gimbel, A.T. and Koziarek, S. and Theodorou, K. and Schulz, J.F. and Stanicek, L. and Ali, T. and Günther, S. and Kumar, S. and Jo, H. and Hübner, N. and Maegdefessel, L. and Dimmeler, S. and van Heesch, S. and Boon, R.A.
bioRxiv : 2022.02.27.482212. 28 February 2022

Multifunctional RNA-binding proteins influence mRNA abundance and translational efficiency of distinct sets of target genes.
Schneider-Lunitz, V. and Ruiz-Orera, J. and Hubner, N. and van Heesch, S.
bioRxiv : 2021.04.13.439465. 6 July 2021

A community-driven roadmap to advance research on translated open reading frames detected by Ribo-seq.
Mudge, J.M. and Ruiz-Orera, J. and Prensner, J.R. and Brunet, M.A. and Gonzalez, J.M. and Magrane, M. and Martinez, T. and Schulz, J.F. and Yang, Y.T. and Albà, M.M. and Baranov, P.V. and Bazzini, A. and Bruford, E. and Martin, M.J. and Carvunis, A.R. and Chen, J. and Couso, J.P. and Flicek, P. and Frankish, A. and Gerstein, M. and Hubner, N. and Ingolia, N.T. and Menschaert, G. and Ohler, U. and Roucou, X. and Saghatelian, A. and Weissman, J. and van Heesch, S.
bioRxiv : 2021.06.10.447896. 10 June 2021

Dual-function RNA-binding proteins influence mRNA abundance and translational efficiency of distinct sets of target genes.
Schneider-Lunitz, V. and Ruiz-Orera, J. and Hubner, N. and van Heesch, S.
bioRxiv : 2021.04.13.439465. 13 April 2021

Protective immune trajectories in early viral containment of non-pneumonic SARS-CoV-2 infection.
Pekayvaz, K. and Leunig, A. and Kaiser, R. and Brambs, S. and Joppich, M. and Janjic, A. and Popp, O. and Polewka, V. and Wange, L.E. and Gold, C. and Kirchner, M. and Muenchhoff, M. and Hellmuth, J.C. and Scherer, C. and Eser, T. and Deák, F. and Kuhl, N. and Linder, A. and Saar, K. and Tomas, L. and Schulz, C. and Enard, W. and Kroidl, I. and Geldmacher, C. and von Bergwelt-Baildon, M. and Keppler, O.T. and Zimmer, R. and Mertins, P. and Hubner, N. and Hölscher, M. and Massberg, S. and Stark, K. and Nicolai, L.
bioRxiv : 2021.02.03.429351. 3 February 2021

Identification of novel disease relevant genetic modifiers affecting the SHH pathway in the developing brain.
Mecklenburg, N. and Kowalczyk, I. and Witte, F. and Görne, J. and Laier, A. and Gonschior, H. and Lehmann, M. and Richter, M. and Sporbert, A. and Purfürst, B. and Hübner, N. and Hammes, A.
bioRxiv : 2020.11.03.366302. 3 November 2020

Trans control of cardiac mRNA translation in a protein length-dependent fashion.
Witte, F. and Ruiz-Orera, J. and Ciolli Mattioli, C. and Blachut, S. and Adami, E. and Schulz, J.F. and Schneider-Lunitz, V. and Hummel, O. and Patone, G. and Mücke, M.B. and Šilhavý, J. and Heinig, M. and Bottolo, L. and Sanchis, D. and Vingron, M. and Chekulaeva, M. and Pravenec, M. and Hubner, N. and van Heesch, S.
bioRxiv : 020.06.05.133298. 6 June 2020

A functional screen of translated pancreatic lncRNAs identifies a microprotein-independent role for LINC00261 in endocrine cell differentiation.
Gaertner, B. and van Heesch, S. and Schneider-Lunitz, V. and Schulz, J.F. and Witte, F. and Blachut, S. and Nguyen, S. and Wong, R. and Matta, I. and Hubner, N. and Sander, M.
bioRxiv : 2020.04.28.062679. 29 April 2020

Integrated analyses of single-cell atlases reveal age, gender, and smoking status associations with cell type-specific expression of mediators of SARS-CoV-2 viral entry and highlights inflammatory programs in putative target cells.
Muus, C. and Luecken, M.D. and Eraslan, G. and Waghray, A. and Heimberg, G. and Sikkema, L. and Kobayashi, Y. and Vaishnav, E.D. and Subramanian, A. and Smilie, C. and Jagadeesh, K. and Thu Duong, E. and Fiskin, E. and Torlai Triglia, E. and Ansari, M. and Cai, P. and Lin, B. and Buchanan, J. and Chen, S. and Shu, J. and Haber, A.L. and Chung, H. and Montoro, D.T. and Adams, T. and Aliee, H. and Allon, S.J. and Andrusivova, A.Z. and Angelidis, I. and Ashenberg, O. and Bassler, K. and Bécavin, C. and Benhar, I. and Bergenstråhle, J. and Bergenstråhle, L. and Bolt, L. and Braun, E. and Bui, L.T. and Chaffin, M. and Chichelnitskiy, E. and Chiou, J. and Conlon, T.M. and Cuoco, M.S. and Deprez, M. and Fischer, D.S. and Gillich, A. and Gould, J. and Guo, M. and Gutierrez, A.J. and Habermann, A.C. and Harvey, T. and He, P. and Hou, X. and Hu, L. and Jaiswal, A. and Jiang, P. and Kapellos, T. and Kuo, C.S. and Larsson, L. and Leney-Greene, M.A. and Lim, K. and Litviňuková, M. and Lu, J. and Ludwig, L.S. and Luo, W. and Maatz, H. and Madissoon, E. and Mamanova, L. and Manakongtreecheep, K. and Marquette, C.H. and Mbano, I. and McAdams, A.M. and Metzger, R.J. and Nabhan, A.N. and Nyquist, S.K. and Penland, L. and Poirion, O.B. and Poli, S. and Qi, C.C. and Queen, R. and Reichart, D. and Rosas, I. and Schupp, J. and Sinha, R. and Sit, R.V. and Slowikowski, K. and Slyper, M. and Smith, N. and Sountoulidis, A. and Strunz, M. and Sun, D. and Talavera-López, C. and Tan, P. and Tantivit, J. and Travaglini, K.J. and Tucker, N.R. and Vernon, K. and Wadsworth, M.H. and Waldman, J. and Wang, X. and Yan, W. and Zhao, W. and Ziegler, C.G.K.
bioRxiv : 2020.04.19.049254. 21 April 2020

Cells and gene expression programs in the adult human heart.
Litviňuková, M. and Talavera-López, C. and Maatz, H. and Reichart, D. and Worth, C.L. and Lindberg, E.L. and Kanda, M. and Polanski, K. and Fasouli, E.S. and Samari, S. and Roberts, K. and Tuck, L. and Heinig, M. and DeLaughter, D.M. and McDonough, B. and Wakimoto, H. and Gorham, J.M. and Nadelmann, E.R. and Mahbubani, K.T. and Saeb-Parsy, K. and Patone, G. and Boyle, J.J. and Zhang, H. and Zhang, H. and Viveiros, A. and Oudit, G.Y. and Bayraktar, O. and Seidman, J.G. and Seidman, C. and Noseda, M. and Hübner, N. and Teichmann, S.A.
bioRxiv : 2020.04.03.024075. 10 April 2020

Disease overarching mechanisms that explain and predict outcome of patients with high cardiovascular risk: rationale and design of the Berlin Long-term Observation of vascular events (BeLOVE) study.
Siegerink, B. and Weber, J. and Ahmadi, M. and Eckardt, K.U. and Edelmann, F. and Endres, M. and Gerhardt, H. and Haubold, K. and Hübner, N. and Landmesser, U. and Leistner, D. and Mai, K. and Müller, D.N. and Pieske, B. and Rauch, G. and Schmidt, S. and Schmidt-Ott, K. and Schulz-Menger, J. and Spranger, J. and Pischon, T.
medRxiv : 19001024. 15 July 2019

The Tug1 locus is essential for male fertility.
Lewandowski, J.P. and Dumbović, G. and Watson, A.R. and Hwang, T. and Jacobs-Palmer, E. and Chang, N. and Much, C. and Turner, K. and Kirby, C. and Schulz, J.F. and Müller, C.L. and Rubinstein, N.D. and Groff, A.F. and Liapis, S.C. and Gerhardinger, C. and Hubner, N. and van Heesch, S. and Hoekstra, H.E. and Sauvageau, M. and Rinn, J.L.
bioRxiv : 562066. 28 February 2019

Translational control of cardiac fibrosis.
Chothani, S. and Schafer, S. and Adami, E. and Viswanathan, S. and Widjaja, A.A. and Langley, S.R. and Tan, J. and Chee, J.P. and D'Agostino, G. and van Heesch, S. and Witte, F. and Felkin, L.E. and Christodoulou, E.G. and Dong, J. and Blachut, S. and Patone, G. and Barton, P.J.R. and Hubner, N. and Cook, S.A. and Rackham, O.J.L.
bioRxiv : 451666. 24 October 2018

Reliable detection of translational regulation with Ribo-seq.
Chothani, S.P. and Adami, E. and Viswanathan, S. and Hubner, N. and Cook, S. and Schafer, S. and Rackham, O.J.L.
bioRxiv : 234344. 15 December 2017

This list was generated on Tue Mar 19 02:23:18 2024 CET.
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