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Publications 2013

Acevedo-Garcia, J., Collins, N.C., Ahmadinejad, N., Ma, L., Houben, A., Bednarek, P., Benjdia, M., Freialdenhoven, A., Altmuller, J., Nurnberg, P., Reinhardt, R., Schulze-Lefert, P., and Panstruga, R. (2013). Fine mapping and chromosome walking towards the Ror1 locus in barley (Hordeum vulgare L.). Theor Appl Genet 126, 2969-2982.

Arelin, M., Schulze, B., Muller-Myhsok, B., Horn, D., Diers, A., Uhlenberg, B., Nurnberg, P., Nurnberg, G., Becker, C., Mundlos, S., Lindner, T.H., Sperling, K., and Hoffmann, K. (2013). Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. European journal of human genetics 21, 367-372.

Arif, B., Kumar, K.R., Seibler, P., Vulinovic, F., Fatima, A., Winkler, S., Nurnberg, G., Thiele, H., Nurnberg, P., Jamil, A.Z., Bruggemann, A., Abbas, G., Klein, C., Naz, S., and Lohmann, K. (2013). A Novel OPA3 Mutation Revealed by Exome Sequencing An Example of Reverse Phenotyping. Jama Neurol 70, 783-787.

Basel-Vanagaite, L., Hershkovitz, T., Heyman, E., Raspall-Chaure, M., Kakar, N., Smirin-Yosef, P., Vila-Pueyo, M., Kornreich, L., Thiele, H., Bode, H., Lagovsky, I., Dahary, D., Haviv, A., Hubshman, M.W., Pasmanik-Chor, M., Nurnberg, P., Gothelf, D., Kubisch, C., Shohat, M., Macaya, A., and Borck, G. (2013). Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. Am J Hum Genet 93, 524-529.

Beck, B.B., Baasner, A., Buescher, A., Habbig, S., Reintjes, N., Kemper, M.J., Sikora, P., Mache, C., Pohl, M., Stahl, M., Toenshoff, B., Pape, L., Fehrenbach, H., Jacob, D.E., Grohe, B., Wolf, M.T., Nurnberg, G., Yigit, G., Salido, E.C., and Hoppe, B. (2013). Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. European journal of human genetics : EJHG 21, 162-172.

Becker, K., Vollbrecht, C., Koitzsch, U., Koenig, K., Fassunke, J., Huss, S., Nuernberg, P., Heukamp, L.C., Buettner, R., Odenthal, M., Altmueller, J., and Merkelbach-Bruse, S. (2013). Deep ion sequencing of amplicon adapter ligated libraries: a novel tool in molecular diagnostics of formalin fixed and paraffin embedded tissues. Journal of clinical pathology 66, 803-806.

Beetz, C., Johnson, A., Schuh, A.L., Thakur, S., Varga, R.E., Fothergill, T., Hertel, N., Bomba-Warczak, E., Thiele, H., Nurnberg, G., Altmuller, J., Saxena, R., Chapman, E.R., Dent, E.W., Nurnberg, P., and Audhya, A. (2013). Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proceedings of the National Academy of Sciences of the United States of America 110, 5091-5096.

Biancheri, R., Cassandrini, D., Pinto, F., Trovato, R., Di Rocco, M., Mirabelli-Badenier, M., Pedemonte, M., Panicucci, C., Trucks, H., Sander, T., Zara, F., Rossi, A., Striano, P., Minetti, C., and Santorelli, F.M. (2013). EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. J Neurol 260, 1866-1870.

Bogershausen, N., Shahrzad, N., Chong, J.X., von Kleist-Retzow, J.C., Stanga, D., Li, Y., Bernier, F.P., Loucks, C.M., Wirth, R., Puffenberger, E.G., Hegele, R.A., Schreml, J., Loucks, C.M., Wirth, R., Puffenberger, E.G., Hegele, R.A., Schreml, J., Lapointe, G., Keupp, K., Brett, C.L., Anderson, R., Hahn, A., Innes, A.M., Suchowersky, O., Mets, M.B., Nurnberg, G., McLeod, D.R., Thiele, H., Waggoner, D., Altmuller, J., Boycott, K.M., Schoser, B., Nurnberg, P., Ober, C., Heller, R., Parboosingh, J.S., Wollnik, B., Sacher, M., and Lamont, R.E. (2013). Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability. American journal of human genetics 93, 181-190.

Cabanis, M., Pyka, M., Mehl, S., Muller, B.W., Loos-Jankowiak, S., Winterer, G., Wolwer, W., Musso, F., Klingberg, S., Rapp, A.M., Langohr, K., Wiedemann, G., Herrlich, J., Walter, H., Wagner, M., Schnell, K., Vogeley, K., Kockler, H., Shah, N.J., Stocker, T., Thienel, R., Pauly, K., Krug, A., and Kircher, T. (2013). The precuneus and the insula in self-attributional processes. Cogn Affect Behav Ne 13, 330-345.

Cirak, S., Foley, A.R., Herrmann, R., Willer, T., Yau, S., Stevens, E., Torelli, S., Brodd, L., Kamynina, A., Vondracek, P., Roper, H., Longman, C., Korinthenberg, R., Marrosu, G., Nurnberg, P., Michele, D.E., Plagnol, V., Hurles, M., Moore, S.A., Sewry, C.A., Campbell, K.P., Voit, T., Muntoni, F., and Consortium, U.K. (2013). ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain 136, 269-281.

Drusch, K., Lowe, A., Fisahn, K., Brinkmeyer, J., Musso, F., Mobascher, A., Warbrick, T., Shah, J., Ohmann, C., Winterer, G., and Wolwer, W. (2013). Effects of nicotine on social cognition, social competence and self-reported stress in schizophrenia patients and healthy controls. European archives of psychiatry and clinical neuroscience 263, 519-527.

Eckl, K.M., Tidhar, R., Thiele, H., Oji, V., Hausser, I., Brodesser, S., Preil, M.L., Onal-Akan, A., Stock, F., Muller, D., Becker, K., Casper, R., Nurnberg, G., Altmuller, J., Nurnberg, P., Traupe, H., Futerman, A.H., and Hennies, H.C. (2013). Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length. Journal of Investigative Dermatology 133, 2202-2211.

Eisenberger, T., Neuhaus, C., Khan, A.O., Decker, C., Preising, M.N., Friedburg, C., Bieg, A., Gliem, M., Charbel Issa, P., Holz, F.G., Baig, S.M., Hellenbroich, Y., Galvez, A., Platzer, K., Wollnik, B., Laddach, N., Ghaffari, S.R., Rafati, M., Botzenhart, E., Tinschert, S., Borger, D., Bohring, A., Schreml, J., Kortge-Jung, S., Schell-Apacik, C., Bakur, K., Al-Aama, J.Y., Neuhann, T., Herkenrath, P., Nurnberg, G., Nurnberg, P., Davis, J.S., Gal, A., Bergmann, C., Lorenz, B., and Bolz, H.J. (2013). Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS ONE 8, e78496.

Elfimova, N., Sievers, E., Eischeid, H., Kwiecinski, M., Noetel, A., Hunt, H., Becker, D., Frommolt, P., Quasdorff, M., Steffen, H.M., Nurnberg, P., Buttner, R., Teufel, A., Dienes, H.P., Drebber, U., and Odenthal, M. (2013). Control of mitogenic and motogenic pathways by miR-198, diminishing hepatoma cell growth and migration. Bba-Mol Cell Res 1833, 1190-1198.

Fehr, C., Sommerlad, D., Sander, T., Anghelescu, I., Dahmen, N., Szegedi, A., Mueller, C., Zill, P., Soyka, M., and Preuss, U.W. (2013). Association of VMAT2 gene polymorphisms with alcohol dependence. J Neural Transm 120, 1161-1169.

Frank, V., Habbig, S., Bartram, M.P., Eisenberger, T., Veenstra-Knol, H.E., Decker, C., Boorsma, R.A.C., Gobel, H., Nurnberg, G., Griessmann, A., Franke, M., Borgal, L., Kohli, P., Volker, L.A., Dotsch, J., Nurnberg, P., Benzing, T., Bolz, H.J., Johnson, C., Gerkes, E.H., Schermer, B., and Bergmann, C. (2013). Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Human molecular genetics 22, 2177-2185.

Grosch, M., Gruner, B., Spranger, S., Stutz, A.M., Rausch, T., Korbel, J.O., Seelow, D., Nurnberg, P., Sticht, H., Lausch, E., Zabel, B., Winterpacht, A., and Tagariello, A. (2013). Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. Matrix Biol 32, 387-392.

Hammerer, D., Biele, G., Muller, V., Thiele, H., Nurnberg, P., Heekeren, H.R., and Li, S.C. (2013). Effects of PPP1R1B (DARPP-32) Polymorphism on Feedback-Related Brain Potentials Across the Life Span. Frontiers in psychology 4, 89.

Hauke, J., Schild, A., Neugebauer, A., Lappa, A., Fricke, J., Fauser, S., Rosler, S., Pannes, A., Zarrinnam, D., Altmuller, J., Motameny, S., Nurnberg, G., Nurnberg, P., Hahnen, E., and Beck, B.B. (2013). A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype. PLoS ONE 8.

Helmstaedter, C., Mihov, Y., Toliat, M.R., Thiele, H., Nuernberg, P., Schoch, S., Surges, R., Elger, C.E., Kunz, W.S., and Hurlemann, R. (2013). Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam. Epilepsia 54, 36-44.

Hussain, M.S., Baig, S.M., Neumann, S., Peche, V.S., Szczepanski, S., Nurnberg, G., Tariq, M., Jameel, M., Khan, T.N., Fatima, A., Malik, N.A., Ahmad, I., Altmuller, J., Frommolt, P., Thiele, H., Hohne, W., Yigit, G., Wollnik, B., Neubauer, B.A., Nurnberg, P., and Noegel, A.A. (2013). CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Human molecular genetics 22, 5199-5214.

Hussain, M.S., Bakhtiar, S.M., Farooq, M., Anjum, I., Janzen, E., Toliat, M.R., Eiberg, H., Kjaer, K.W., Tommerup, N., Noegel, A.A., Nurnberg, P., Baig, S.M., and Hansen, L. (2013). Genetic heterogeneity in Pakistani microcephaly families. Clinical genetics 83, 446-451.

Koehler, K., Malik, M., Mahmood, S., Giesselmann, S., Beetz, C., Hennings, J.C., Huebner, A.K., Grahn, A., Reunert, J., Nurnberg, G., Thiele, H., Altmuller, J., Nurnberg, P., Mumtaz, R., Babovic-Vuksanovic, D., Basel-Vanagaite, L., Borck, G., Bramswig, J., Muhlenberg, R., Sarda, P., Sikiric, A., Anyane-Yeboa, K., Zeharia, A., Ahmad, A., Coubes, C., Wada, Y., Marquardt, T., Vanderschaeghe, D., Van Schaftingen, E., Kurth, I., Huebner, A., and Hubner, C.A. (2013). Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction. American journal of human genetics 93, 727-734.

Kropatsch, R., Dekomien, G., Akkad, D.A., Gerding, W.M., Petrasch-Parwez, E., Young, N.D., Altmuller, J., Nurnberg, P., Gasser, R.B., and Epplen, J.T. (2013). SOX9 Duplication Linked to Intersex in Deer. PLoS ONE 8.

Lal, D., Becker, K., Motameny, S., Altmuller, J., Thiele, H., Nurnberg, P., Ahting, U., Rolinski, B., Neubauer, B.A., and Hahn, A. (2013). Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics 14, 85-87.

Lal, D., Reinthaler, E.M., Altmuller, J., Toliat, M.R., Thiele, H., Nurnberg, P., Lerche, H., Hahn, A., Moller, R.S., Muhle, H., Sander, T., Zimprich, F., and Neubauer, B.A. (2013). RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy. PLoS ONE 8.

Lal, D., Trucks, H., Moller, R.S., Hjalgrim, H., Koeleman, B.P.C., de Kovel, C.G.F., Visscher, F., Weber, Y.G., Lerche, H., Becker, F., Schankin, C.J., Neubauer, B.A., Surges, R., Kunz, W.S., Zimprich, F., Franke, A., Illig, T., Ried, J.S., Leu, C., Nurnberg, P., Sander, T., Consortium, E., and Consortium, E. (2013). Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Epilepsia 54, 265-271.

Leipold, E., Liebmann, L., Korenke, G.C., Heinrich, T., Giesselmann, S., Baets, J., Ebbinghaus, M., Goral, R.O., Stodberg, T., Hennings, J.C., Bergmann, M., Altmuller, J., Thiele, H., Wetzel, A., Nurnberg, P., Timmerman, V., De Jonghe, P., Blum, R., Schaible, H.G., Weis, J., Heinemann, S.H., Hubner, C.A., and Kurth, I. (2013). A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nature genetics 45, 1399-+.

Lemaire, M., Fremeaux-Bacchi, V., Schaefer, F., Choi, M.R., Tang, W.H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W.Z., Overton, J.D., Mane, S.M., Nurnberg, G., Altmuller, J., Thiele, H., Morin, D., Deschenes, G., Baudouin, V., Llanas, B., Collard, L., Majid, M.A., Simkova, E., Nurnberg, P., Rioux-Leclerc, N., Moeckel, G.W., Gubler, M.C., Hwa, J., Loirat, C., and Lifton, R.P. (2013). Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nature genetics 45, 531-U102.

Lemke, J. R., Lal, D., Reinthaler, E. M., Steiner, I., Nothnagel, M., Alber, M., Geider, K., Laube, B., Schwake, M., Finsterwalder, K., Franke, A., Schilhabel, M., Jahn, J. A., Muhle, H., Boor, R., Van Paesschen, W., Caraballo, R., Fejerman, N., Weckhuysen, S., De Jonghe, P., Larsen, J., Moller, R. S., Hjalgrim, H., Addis, L., Tang, S., Hughes, E., Pal, D. K., Veri, K., Vaher, U., Talvik, T., Dimova, P., Guerrero Lopez, R., Serratosa, J. M., Linnankivi, T., Lehesjoki, A. E., Ruf, S., Wolff, M., Buerki, S., Wohlrab, G., Kroell, J., Datta, A. N., Fiedler, B., Kurlemann, G., Kluger, G., Hahn, A., Haberlandt, D. E., Kutzer, C., Sperner, J., Becker, F., Weber, Y. G., Feucht, M., Steinbock, H., Neophythou, B., Ronen, G. M., Gruber-Sedlmayr, U., Geldner, J., Harvey, R. J., Hoffmann, P., Herms, S., Altmuller, J., Toliat, M. R., Thiele, H., Nurnberg, P., Wilhelm, C., Stephani, U., Helbig, I., Lerche, H., Zimprich, F., Neubauer, B. A., Biskup, S., and von Spiczak, S. (2013) Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature genetics 45, 1067-1072

Manteniotis, S., Lehmann, R., Flegel, C., Vogel, F., Hofreuter, A., Schreiner, B.S.P., Altmuller, J., Becker, C., Schobel, N., Hatt, H., and Gisselmann, G. (2013). Comprehensive RNA-Seq Expression Analysis of Sensory Ganglia with a Focus on Ion Channels and GPCRs in Trigeminal Ganglia. PLoS ONE 8.

Moller, R.S., Weber, Y.G., Klitten, L.L., Trucks, H., Muhle, H., Kunz, W.S., Mefford, H.C., Franke, A., Kautza, M., Wolf, P., Dennig, D., Schreiber, S., Ruckert, I.M., Wichmann, H.E., Ernst, J.P., Schurmann, C., Grabe, H.J., Tommerup, N., Stephani, U., Lerche, H., Hjalgrim, H., Helbig, I., Sander, T., and Consortium, E. (2013). Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia 54, 256-264.

Mullen, S.A., Carvill, G.L., Bellows, S., Bayly, M.A., Trucks, H., Lal, D., Sander, T., Berkovic, S.F., Dibbens, L.M., Scheffer, I.E., and Mefford, H.C. (2013). Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology 81, 1507-1514.

Mutschler, J., Abbruzzese, E., von der Goltz, C., Dinter, C., Mobascher, A., Thiele, H., Diaz-Lacava, A., Dahmen, N., Gallinat, J., Majic, T., Petrovsky, N., Thuerauf, N., Kornhuber, J., Grunder, G., Rademacher, L., Brinkmeyer, J., Wienker, T., Wagner, M., Winterer, G., and Kiefer, F. (2013). Lack of Association of a Functional Catechol-O-Methyltransferase Gene Polymorphism With Risk of Tobacco Smoking: Results From a Multicenter Case-Control Study. Nicotine Tob Res 15, 1322-1327.

Mutschler, J., Abbruzzese, E., Wiedemann, K., von der Goltz, C., Dinter, C., Mobascher, A., Thiele, H., Diaz-Lacava, A., Dahmen, N., Gallinat, J., Majic, T., Petrovsky, N., Thuerauf, N., Kornhuber, J., Grunder, G., Rademacher, L., Brinkmeyer, J., Wienker, T., Wagner, M., Winterer, G., and Kiefer, F. (2013). Functional Polymorphism in the Neuropeptide Y Gene Promoter (rs16147) Is Associated with Serum Leptin Levels and Waist-Hip Ratio in Women. Ann Nutr Metab 62, 271-276.

Nellen, R.G.L., Steijlen, P.M., Hennies, H.C., Fischer, J., Munro, C.S., Jonkman, M.F., van Steensel, M.A.M., and van Geel, M. (2013). Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene. British Journal of Dermatology 168, 1372-1374.

Noetel, A., Elfimova, N., Altmuller, J., Becker, C., Becker, D., Lahr, W., Nurnberg, P., Wasmuth, H., Teufel, A., Buttner, R., Dienes, H.P., and Odenthal, M. (2013). Next generation sequencing of the Ago2 interacting transcriptome identified chemokine family members as novel targets of neuronal microRNAs in hepatic stellate cells. Journal of hepatology 58, 335-341.

Pasternack, S.M., Refke, M., Paknia, E., Hennies, H.C., Franz, T., Schafer, N., Fryer, A., van Steensel, M., Sweeney, E., Just, M., Grimm, C., Kruse, R., Ferrandiz, C., Nothen, M.M., Fischer, U., and Betz, R.C. (2013). Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex. American journal of human genetics 92, 81-87.

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

Pernhorst, K., van Loo, K.M.J., von Lehe, M., Priebe, L., Cichon, S., Herm, S., Hoffmann, P., Helmstaedter, C., Sander, T., Schoch, S., and Becker, A.J. (2013). Rs6295 promoter variants of the serotonin type 1A receptor are differentially activated by c-Jun in vitro and correlate to transcript levels in human epileptic brain tissue. Brain research 1499, 136-144.

Richter, N., Warbrick, T., Mobascher, A., Brinkmeyer, J., Musso, F., Stoecker, T., Shah, N.J., Fink, G.R., and Winterer, G. (2013). Epoch versus impulse models in the analysis of parametric fMRI studies. Clinical neurophysiology 124, 956-966.

Roewer, L., Nothnagel, M., Gusmao, L., Gomes, V., Gonzalez, M., Corach, D., Sala, A., Alechine, E., Palha, T., Santos, N., Ribeiro-dos-Santos, A., Geppert, M., Willuweit, S., Nagy, M., Zweynert, S., Baeta, M., Nunez, C., Martinez-Jarreta, B., Gonzalez-Andrade, F., de Carvalho, E.F., da Silva, D.A., Builes, J.J., Turbon, D., Parra, A.M.L., Arroyo-Pardo, E., Toscanini, U., Borjas, L., Barletta, C., Ewart, E., Santos, S., and Krawczak, M. (2013). Continent-Wide Decoupling of Y-Chromosomal Genetic Variation from Language and Geography in Native South Americans. PLoS genetics 9.

Saha, B., Lessel, D., Nampoothiri, S., Rao, A.S., Hisama, F.M., Peter, D., Bennett, C., Nurnberg, G., Nurnberg, P., Martin, G.M., Kubisch, C., and Oshima, J. (2013). Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry. Molecular genetics & genomic medicine 1, 7-14.

Schelhorn, S.E., Fischer, M., Tolosi, L., Altmuller, J., Nurnberg, P., Pfister, H., Lengauer, T., and Berthold, F. (2013). Sensitive detection of viral transcripts in human tumor transcriptomes. PLoS computational biology 9, e1003228.

Schermer, B., Bartels, V., Frommolt, P., Habermann, B., Braun, F., Schultze, J.L., Roodbergen, M., Hoeijmakers, J.H.J., Schumacher, B., Nurnberg, P., Dolle, M.E.T., Benzing, T., Muller, R.U., and Kurschat, C.E. (2013). Transcriptional profiling reveals progeroid Ercc1(-/Delta) mice as a model system for glomerular aging. Bmc Genomics 14.

Schiffer, P.H., Kroiher, M., Kraus, C., Koutsovoulos, G.D., Kumar, S., JI, R.C., Nsah, N.A., Stappert, D., Morris, K., Heger, P., Altmuller, J., Frommolt, P., Nurnberg, P., Thomas, W.K., Blaxter, M.L., and Schierenberg, E. (2013). The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda. Bmc Genomics 14, 923.

Seidel, D., Zander, T., Heukamp, L.C., Peifer, M., Bos, M., Fernandez-Cuesta, L., Leenders, F., Lu, X., Ansen, S., Gardizi, M., Nguyen, C., Berg, J., Russell, P., Wainer, Z., Schildhaus, H.U., Rogers, T.M., Solomon, B., Pao, W., Carter, S.L., Getz, G., Hayes, D.N., Wilkerson, M.D., Thunnissen, E., Travis, W.D., Perner, S., Wright, G., Brambilla, E., Buttner, R., Wolf, J., Thomas, R.K., Gabler, F., Wilkening, I., Muller, C., Dahmen, I., Menon, R., Konig, K., Albus, K., Merkelbach-Bruse, S., Fassunke, J., Schmitz, K., Kuenstlinger, H., Kleine, M.A., Binot, E., Querings, S., Altmuller, J., Bossmann, I., Numberg, P., Schneider, P.M., Bogus, M., Buttner, R., Perner, S., Russell, P., Thunnissen, E., Travis, W.D., Brambilla, E., Soltermann, A., Moch, H., Brustugun, O.T., Solberg, S., Lund-Iversen, M., Helland, A., Muley, T., Hoffmann, H., Schnabel, P.A., Chen, Y., Groen, H., Timens, W., Sietsma, H., Clement, J.H., Weder, W., Sanger, J., Stoelben, E., Ludwig, C., Engel-Riedel, W., Smit, E., Heideman, D.A.M., Snijders, P.J.F., Nogova, L., Sos, M.L., Mattonet, C., Topelt, K., Scheffler, M., Goekkurt, E., Kappes, R., Kruger, S., Kambartel, K., Behringer, D., Schulte, W., Galetke, W., Randerath, W., Heldwein, M., Schlesinger, A., Serke, M., Hekmat, K., Frank, K.F., Schnell, R., Reiser, M., Hunerliturkoglu, A.N., Schmitz, S., Meffert, L., Ko, Y.D., Litt-Lampe, M., Gerigk, U., Fricke, R., Besse, B., Brambilla, C., Lantuejoul, S., Lorimier, P., Moro-Sibilot, D., Cappuzzo, F., Ligorio, C., Damiani, S., Field, J.K., Hyde, R., Validire, P., Girard, P., Muscarella, L.A., Fazio, V.M., Hallek, M., Soria, J.C., Carter, S.L., Getz, G., Hayes, D.N., Wilkerson, M.D., Achter, V., Lang, U., Seidel, D., Zander, T., Heukamp, L.C., Peifer, M., Bos, M., Pao, W., Travis, W.D., Brambilla, E., Buttner, R., Wolf, J., Thomas, R.K., Clcgp, and Ngm (2013). A Genomics-Based Classification of Human Lung Tumors. Science Translational Medicine 5.

Shao, K.F., Koch, C., Gupta, M.K., Lin, Q., Lenz, M., Laufs, S., Denecke, B., Schmidt, M., Linke, M., Hennies, H.C., Hescheler, J., Zenke, M., Zechner, U., Saric, T., and Wagner, W. (2013). Induced Pluripotent Mesenchymal Stromal Cell Clones Retain Donor-derived Differences in DNA Methylation Profiles. Mol Ther 21, 240-250.

Siegert, S., Yu, Z.H., Wang-Sattler, R., Illig, T., Adamski, J., Hampe, J., Nikolaus, S., Schreiber, S., Krawczak, M., Nothnagel, M., and Nothlings, U. (2013). Diagnosing Fatty Liver Disease: A Comparative Evaluation of Metabolic Markers, Phenotypes, Genotypes and Established Biomarkers. PLoS ONE 8.

Stolting, G., Teodorescu, G., Begemann, B., Schubert, J., Nabbout, R., Toliat, M.R., Sander, T., Nurnberg, P., Lerche, H., and Fahlke, C. (2013). Regulation of ClC-2 gating by intracellular ATP. Pflug Arch Eur J Phy 465, 1423-1437.

Varga, R.E., Schule, R., Fadel, H., Valenzuela, I., Speziani, F., Gonzalez, M., Rudenskaia, G., Nurnberg, G., Thiele, H., Altmuller, J., Alvarez, V., Gamez, J., Garbern, J.Y., Nurnberg, P., Zuchner, S., and Beetz, C. (2013). Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia. Human mutation 34, 860-863.

Volk, A.E., Lang-Roth, R., Yigit, G., Borck, G., Nuernberg, G., Rosenkranz, S., Nuernberg, P., Kubisch, C., and Beutner, D. (2013). A Novel MYO6 Splice Site Mutation Causes Autosomal Dominant Sensorineural Hearing Loss Type DFNA22 with a Favourable Outcome after Cochlear Implantation. Audiol Neuro-Otol 18, 192-199.

Wagner, M., Schulze-Rauschenbach, S., Petrovsky, N., Brinkmeyer, J., von der Goltz, C., Grunder, G., Spreckelmeyer, K.N., Wienker, T., Diaz-Lacava, A., Mobascher, A., Dahmen, N., Clepce, M., Thuerauf, N., Kiefer, F., de Millas, J.W., Gallinat, J., and Winterer, G. (2013). Neurocognitive impairments in non-deprived smokers-results from a population-based multi-center study on smoking-related behavior. Addiction biology 18, 752-761.

Wallrabenstein, I., Kuklan, J., Weber, L., Zborala, S., Werner, M., Altmuller, J., Becker, C., Schmidt, A., Hatt, H., Hummel, T., and Gisselmann, G. (2013). Human Trace Amine-Associated Receptor TAAR5 Can Be Activated by Trimethylamine. PLoS ONE 8.

Weterman, M.A.J., Barth, P.G., van Spaendonck-Zwarts, K.Y., Aronica, E., Poll-The, B.T., Brouwer, O.F., van Tintelen, J.P., Qahar, Z., Bradley, E.J., de Wissel, M., Salviati, L., Angelini, C., van den Heuvel, L., Thomasse, Y.E.M., Backx, A.P., Nurnberg, G., Nurnberg, P., and Baas, F. (2013). Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain 136, 282-293.

Wieczorek, D., Bogershausen, N., Beleggia, F., Steiner-Haldenstatt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmuller, J., Alanay, Y., Kayserili, H., Klein-Hitpass, L., Bohringer, S., Wollstein, A., Albrecht, B., Boduroglu, K., Caliebe, A., Chrzanowska, K., Cogulu, O., Cristofoli, F., Czeschik, J.C., Devriendt, K., Dotti, M.T., Elcioglu, N., Gener, B., Goecke, T.O., Krajewska-Walasek, M., Guillen-Navarro, E., Hayek, J., Houge, G., Kilic, E., Simsek-Kiper, P.O., Lopez-Gonzalez, V., Kuechler, A., Lyonnet, S., Mari, F., Marozza, A., Dramard, M.M., Mikat, B., Morin, G., Morice-Picard, F., Ozkinay, F., Rauch, A., Renieri, A., Tinschert, S., Utine, G.E., Vilain, C., Vivarelli, R., Zweier, C., Nurnberg, P., Rahmann, S., Vermeesch, J., Ludecke, H.J., Zeschnigk, M., and Wollnik, B. (2013). A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human molecular genetics 22, 5121-5135.

Winterer, G., Gallinat, J., Brinkmeyer, J., Musso, F., Kornhuber, J., Thuerauf, N., Rujescu, D., Favis, R., Sun, Y., Franc, M.A., Ouwerkerk-Mahadevan, S., Janssens, L., Timmers, M., and Streffer, J.R. (2013). Allosteric alpha-7 nicotinic receptor modulation and P50 sensory gating in schizophrenia: A proof-of-mechanism study. Neuropharmacology 64, 197-204.

Wirschell, M., Olbrich, H., Werner, C., Tritschler, D., Bower, R., Sale, W.S., Loges, N.T., Pennekamp, P., Lindberg, S., Stenram, U., Carlen, B., Horak, E., Kohler, G., Nurnberg, P., Nurnberg, G., Porter, M.E., and Omran, H. (2013). The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nature genetics 45, 262-268.