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Publications

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2016

Acuna, M., Martinez, P., Moraga, C., He, X., Moraga, M., Hunter, B., Nuernberg, P., Gutierrez, R.A., Gonzalez, M., Schuchman, E.H., Luis Santos, J., Miquel, J.F., Mabe, P., and Zanlungo, S. (2016). Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. European journal of human genetics : EJHG 24, 208-213.

Ammann, S., Schulz, A., Krageloh-Mann, I., Dieckmann, N.M., Niethammer, K., Fuchs, S., Eckl, K.M., Plank, R., Werner, R., Altmuller, J., Thiele, H., Nurnberg, P., Bank, J., Srauss, A., von Bernuth, H., Zur Stadt, U., Grieve, S., Griffiths, G.M., Lehmberg, K., Hennies, H.C., and Ehl, S. (2016). Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. doi: 10.1182/blood-2015-09-671636.

Bartram, M.P., Habbig, S., Pahmeyer, C., Hohne, M., Weber, L.T., Thiele, H., Altmuller, J., Kottoor, N., Wenzel, A., Krueger, M., Schermer, B., Benzing, T., Rinschen, M.M., and Beck, B.B. (2016). Three-layered proteomic characterization of a novel ACTN4 mutation unravels its pathogenic potential in FSGS. Hum Mol Genet. doi: 10.1093/hmg/ddv638.

Daud, S., Kakar, N., Goebel, I., Hashmi, A.S., Yaqub, T., Nurnberg, G., Nurnberg, P., Morris-Rosendahl, D.J., Wasim, M., Volk, A.E., Kubisch, C., Ahmad, J., and Borck, G. (2016). Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia. Amyotrophic lateral sclerosis & frontotemporal degeneration, 1-6. doi: 10.3109/21678421.2015.1125501.

Di Donato, N., Neuhann, T., Kahlert, A.K., Klink, B., Hackmann, K., Neuhann, I., Novotna, B., Schallner, J., Krause, C., Glass, I.A., Parnell, S.E., Benet-Pages, A., Nissen, A.M., Berger, W., Altmuller, J., Thiele, H., Weber, B.H., Schrock, E., Dobyns, W.B., Bier, A., and Rump, A. (2016). Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. doi: 10.1136/jmedgenet-2015-103511.

Harley, M.E., Murina, O., Leitch, A., Higgs, M.R., Bicknell, L.S., Yigit, G., Blackford, A.N., Zlatanou, A., Mackenzie, K.J., Reddy, K., Halachev, M., McGlasson, S., Reijns, M.A., Fluteau, A., Martin, C.A., Sabbioneda, S., Elcioglu, N.H., Altmuller, J., Thiele, H., Greenhalgh, L., Chessa, L., Maghnie, M., Salim, M., Bober, M.B., Nurnberg, P., Jackson, S.P., Hurles, M.E., Wollnik, B., Stewart, G.S., and Jackson, A.P. (2016). TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet 48, 36-43.

Jabbari, K., and Nurnberg, P. (2016). A genomic view on epilepsy and autism candidate genes. Genomics. doi: 10.1016/j.ygeno.2016.01.001.

Korenke, G.C., Eggert, M., Thiele, H., Nurnberg, P., Sander, T., and Steinlein, O.K. (2016). Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3. Epilepsia. doi: 10.1111/epi.13307.

Lal, D., Neubauer, B.A., Toliat, M.R., Altmuller, J., Thiele, H., Nurnberg, P., Kamrath, C., Schanzer, A., Sander, T., Hahn, A., and Nothnagel, M. (2016). Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. PLoS ONE 11, e0146040.

Moosa, S., Obregon, M.G., Altmuller, J., Thiele, H., Nurnberg, P., Fano, V., and Wollnik, B. (2016). Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. American journal of medical genetics Part A. doi: 10.1002/ajmg.a.37570.

Scholz, P., Kalbe, B., Jansen, F., Altmueller, J., Becker, C., Mohrhardt, J., Schreiner, B., Gisselmann, G., Hatt, H., and Osterloh, S. (2016). Transcriptome Analysis of Murine Olfactory Sensory Neurons during Development Using Single Cell RNA-Seq. Chemical senses. doi: 10.1093/chemse/bjw003.

Spielmann, M., Kakar, N., Tayebi, N., Leettola, C., Nurnberg, G., Sowada, N., Lupianez, D.G., Harabula, I., Flottmann, R., Horn, D., Chan, W.L., Wittler, L., Yilmaz, R., Altmuller, J., Thiele, H., van Bokhoven, H., Schwartz, C.E., Nurnberg, P., Bowie, J.U., Ahmad, J., Kubisch, C., Mundlos, S., and Borck, G. (2016). Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome research. doi: 10.1101/gr.199430.115.

Spier, I., Kerick, M., Drichel, D., Horpaopan, S., Altmuller, J., Laner, A., Holzapfel, S., Peters, S., Adam, R., Zhao, B., Becker, T., Lifton, R.P., Holinski-Feder, E., Perner, S., Thiele, H., Nothen, M.M., Hoffmann, P., Timmermann, B., Schweiger, M.R., and Aretz, S. (2016). Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis. Familial cancer. doi: 10.1007/s10689-016-9870-z.

Szczepanski, S., Hussain, M.S., Sur, I., Altmuller, J., Thiele, H., Abdullah, U., Waseem, S.S., Moawia, A., Nurnberg, G., Noegel, A.A., Baig, S.M., and Nurnberg, P. (2016). A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum Genet 135, 157-170.

Widdig, A., Kessler, M.J., Bercovitch, F.B., Berard, J.D., Duggleby, C., Nurnberg, P., Rawlins, R.G., Sauermann, U., Wang, Q., Krawczak, M., and Schmidtke, J. (2016). Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of research. Am J Primatol 78, 44-62.

Zaki, M.S., Heller, R., Thoenes, M., Nurnberg, G., Stern-Schneider, G., Nurnberg, P., Karnati, S., Swan, D., Fateen, E., Nagel-Wolfrum, K., Mostafa, M.I., Thiele, H., Wolfrum, U., Baumgart-Vogt, E., and Bolz, H.J. (2016). PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum Mutat 37, 170-174.

Zhang, R., Thiele, H., Bartmann, P., Hilger, A.C., Berg, C., Herberg, U., Klingmuller, D., Nurnberg, P., Ludwig, M., and Reutter, H. (2016). Whole-Exome Sequencing in Nine Monozygotic Discordant Twins. Twin Res Hum Genet 19, 60-65.

2015

Abdallah, A.T., Fischer, M., Nurnberg, P., Nothnagel, M., and Frommolt, P. (2015). CoNCoS: Copy number estimation in cancer with controlled support. Journal of bioinformatics and computational biology 13, 1550027.

Andres, F., Romera-Branchat, M., Martinez-Gallegos, R., Patel, V., Schneeberger, K., Jang, S., Altmuller, J., Nurnberg, P., and Coupland, G. (2015). Floral Induction in Arabidopsis by FLOWERING LOCUS T Requires Direct Repression of BLADE-ON-PETIOLE Genes by the Homeodomain Protein PENNYWISE. Plant physiology 169, 2187-2199.

Balabanova, Y., Nikolayevskyy, V., Ignatyeva, O., Kontsevaya, I., Mironova, S., Kovalyov, A., Kritsky, A., Rodionova, Y., Fedorin, I., Casali, N., Hooper, R., Horstmann, R.D., Nejentsev, S., Hoffner, S., Nuernberg, P., and Drobniewski, F. (2015). Beijing clades of Mycobacterium tuberculosis are associated with differential survival in HIV-negative Russian patients. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 36, 517-523.

Basmanav, F.B., Fritz, G., Lestringant, G.G., Pachat, D., Hoffjan, S., Fischer, J., Wehner, M., Wolf, S., Thiele, H., Altmuller, J., Pulimood, S.A., Rutten, A., Kruse, R., Hanneken, S., Frank, J., Danda, S., Bygum, A., and Betz, R.C. (2015). Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura. J Invest Dermatol 135, 615-618.

Becker, K., Tinschert, S., Lienert, A., Bleuler, P.E., Staub, F., Meinel, A., Rossler, J., Wach, W., Hoffmann, R., Kuhnel, F., Damert, H.G., Nick, H.E., Spicher, R., Lenze, W., Langer, M., Nurnberg, P., and Hennies, H.C. (2015). The importance of genetic susceptibility in Dupuytren's disease. Clin Genet 87, 483-487.

Borck, G., Hog, F., Dentici, M.L., Tan, P.L., Sowada, N., Medeira, A., Gueneau, L., Holger, T., Kousi, M., Lepri, F., Wenzeck, L., Blumenthal, I., Radicioni, A., Schwarzenberg, T.L., Mandriani, B., Fischetto, R., Morris-Rosendahl, D.J., Altmuller, J., Reymond, A., Nunberg, P., Merla, G., Dallapiccola, B., Katsanis, N., Cramer, P., and Kubisch, C. (2015). BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies. Genome research 25, 609.

Boucas, J., Fritz, C., Schmitt, A., Riabinska, A., Thelen, L., Peifer, M., Leeser, U., Nuernberg, P., Altmueller, J., Gaestel, M., Dieterich, C., and Reinhardt, H.C. (2015). Label-Free Protein-RNA Interactome Analysis Identifies Khsrp Signaling Downstream of the p38/Mk2 Kinase Complex as a Critical Modulator of Cell Cycle Progression. PLoS ONE 10, e0125745.

Budde, B.S., Mizumoto, S., Kogawa, R., Becker, C., Altmuller, J., Thiele, H., Ruschendorf, F., Toliat, M.R., Kaleschke, G., Hammerle, J.M., Hohne, W., Sugahara, K., Nurnberg, P., and Kennerknecht, I. (2015). Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. Hum Genet 134, 691-704.

Buyandelger, B., Mansfield, C., Kostin, S., Choi, O., Roberts, A.M., Ware, J.S., Mazzarotto, F., Pesce, F., Buchan, R., Isaacson, R.L., Vouffo, J., Gunkel, S., Knoll, G., McSweeney, S.J., Wei, H., Perrot, A., Pfeiffer, C., Toliat, M.R., Ilieva, K., Krysztofinska, E., Lopez-Olaneta, M.M., Gomez-Salinero, J.M., Schmidt, A., Ng, K.E., Teucher, N., Chen, J., Teichmann, M., Eilers, M., Haverkamp, W., Regitz-Zagrosek, V., Hasenfuss, G., Braun, T., Pennell, D.J., Gould, I., Barton, P.J., Lara-Pezzi, E., Schafer, S., Hubner, N., Felkin, L.E., O'Regan, D.P., Brand, T., Milting, H., Nurnberg, P., Schneider, M.D., Prasad, S., Petretto, E., and Knoll, R. (2015). ZBTB17 (MIZ1) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure. Circulation Cardiovascular genetics 8, 643-652.

Castori, M., Pascolini, G., Parisi, V., Sana, M.E., Novelli, A., Nurnberg, P., Iascone, M., and Grammatico, P. (2015). Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia. American journal of medical genetics Part A 167A, 842-851.

Curtis, J., Luo, Y., Zenner, H.L., Cuchet-Lourenco, D., Wu, C., Lo, K., Maes, M., Alisaac, A., Stebbings, E., Liu, J.Z., Kopanitsa, L., Ignatyeva, O., Balabanova, Y., Nikolayevskyy, V., Baessmann, I., Thye, T., Meyer, C.G., Nurnberg, P., Horstmann, R.D., Drobniewski, F., Plagnol, V., Barrett, J.C., and Nejentsev, S. (2015). Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration. Nat Genet 47, 523-527.

Elsayed, S.M., Phillips, J.B., Heller, R., Thoenes, M., Elsobky, E., Nurnberg, G., Nurnberg, P., Seland, S., Ebermann, I., Altmuller, J., Thiele, H., Toliat, M., Korber, F., Hu, X.J., Wu, Y.D., Zaki, M.S., Abdel-Salam, G., Gleeson, J., Boltshauser, E., Westerfield, M., and Bolz, H.J. (2015). Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Hum Mol Genet 24, 2594-2603.

Fernandez-Cuesta, L., Sun, R., Menon, R., George, J., Lorenz, S., Meza-Zepeda, L.A., Peifer, M., Plenker, D., Heuckmann, J.M., Leenders, F., Zander, T., Dahmen, I., Koker, M., Schottle, J., Ullrich, R.T., Altmuller, J., Becker, C., Nurnberg, P., Seidel, H., Bohm, D., Goke, F., Ansen, S., Russell, P.A., Wright, G.M., Wainer, Z., Solomon, B., Petersen, I., Clement, J.H., Sanger, J., Brustugun, O.T., Helland, A., Solberg, S., Lund-Iversen, M., Buettner, R., Wolf, J., Brambilla, E., Vingron, M., Perner, S., Haas, S.A., and Thomas, R.K. (2015). Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data. Genome Biol 16, 7.

Flegel, C., Schobel, N., Altmuller, J., Becker, C., Tannapfel, A., Hatt, H., and Gisselmann, G. (2015). RNA-Seq Analysis of Human Trigeminal and Dorsal Root Ganglia with a Focus on Chemoreceptors. PLoS ONE 10, e0128951.

Galizia, E.C., Myers, C.T., Leu, C., de Kovel, C.G., Afrikanova, T., Cordero-Maldonado, M.L., Martins, T.G., Jacmin, M., Drury, S., Krishna Chinthapalli, V., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A.K., Moller, R.S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A.E., Nurnberg, P., Lerche, H., Palotie, A., Coppola, A., Striano, S., Gaudio, L.D., Boustred, C., Schneider, A.L., Lench, N., Jocic-Jakubi, B., Covanis, A., Capovilla, G., Veggiotti, P., Piccioli, M., Parisi, P., Cantonetti, L., Sadleir, L.G., Mullen, S.A., Berkovic, S.F., Stephani, U., Helbig, I., Crawford, A.D., Esguerra, C.V., Kasteleijn-Nolst Trenite, D.G., Koeleman, B.P., Mefford, H.C., Scheffer, I.E., and Sisodiya, S.M. (2015). CHD2 variants are a risk factor for photosensitivity in epilepsy. Brain 138, 1198-1207.

Gardella, E., Becker, F., Moller, R.S., Schubert, J., Lemke, J.R., Larsen, L.H., Eiberg, H., Nothnagel, M., Thiele, H., Altmuller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nurnberg, P., Mang, Y., Bakke Moller, L., Gellert, P., Heron, S., Dibbens, L., Weckhuysen, S., Dahl, H.A., Biskup, S., Tommerup, N., Hjalgrim, H., Lerche, H., Beniczky, S., and Weber, Y.G. (2015). Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. doi: 10.1002/ana.24580.

George, J., Lim, J.S., Jang, S.J., Cun, Y., Ozretic, L., Kong, G., Leenders, F., Lu, X., Fernandez-Cuesta, L., Bosco, G., Muller, C., Dahmen, I., Jahchan, N.S., Park, K.S., Yang, D., Karnezis, A.N., Vaka, D., Torres, A., Wang, M.S., Korbel, J.O., Menon, R., Chun, S.M., Kim, D., Wilkerson, M., Hayes, N., Engelmann, D., Putzer, B., Bos, M., Michels, S., Vlasic, I., Seidel, D., Pinther, B., Schaub, P., Becker, C., Altmuller, J., Yokota, J., Kohno, T., Iwakawa, R., Tsuta, K., Noguchi, M., Muley, T., Hoffmann, H., Schnabel, P.A., Petersen, I., Chen, Y., Soltermann, A., Tischler, V., Choi, C.M., Kim, Y.H., Massion, P.P., Zou, Y., Jovanovic, D., Kontic, M., Wright, G.M., Russell, P.A., Solomon, B., Koch, I., Lindner, M., Muscarella, L.A., la Torre, A., Field, J.K., Jakopovic, M., Knezevic, J., Castanos-Velez, E., Roz, L., Pastorino, U., Brustugun, O.T., Lund-Iversen, M., Thunnissen, E., Kohler, J., Schuler, M., Botling, J., Sandelin, M., Sanchez-Cespedes, M., Salvesen, H.B., Achter, V., Lang, U., Bogus, M., Schneider, P.M., Zander, T., Ansen, S., Hallek, M., Wolf, J., Vingron, M., Yatabe, Y., Travis, W.D., Nurnberg, P., Reinhardt, C., Perner, S., Heukamp, L., Buttner, R., Haas, S.A., Brambilla, E., Peifer, M., Sage, J., and Thomas, R.K. (2015). Comprehensive genomic profiles of small cell lung cancer. Nature 524, 47-53.

Gollasch, B., Basmanav, F.B., Nanda, A., Fritz, G., Mahmoudi, H., Thiele, H., Wehner, M., Wolf, S., Altmuller, J., Nurnberg, P., Frank, J., and Betz, R.C. (2015). Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. American journal of medical genetics Part A 167A, 2555-2562.

Groen, J.L., Andrade, A., Ritz, K., Jalalzadeh, H., Haagmans, M., Bradley, T.E., Jongejan, A., Verbeek, D.S., Nurnberg, P., Denome, S., Hennekam, R.C., Lipscombe, D., Baas, F., and Tijssen, M.A. (2015). CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum Mol Genet 24, 987-993.

Gruber, R., Sugarman, J.L., Crumrine, D., Hupe, M., Mauro, T.M., Mauldin, E.A., Thyssen, J.P., Brandner, J.M., Hennies, H.C., Schmuth, M., and Elias, P.M. (2015). Sebaceous gland, hair shaft, and epidermal barrier abnormalities in keratosis pilaris with and without filaggrin deficiency. The American journal of pathology 185, 1012-1021.

Haering, C., Kanageswaran, N., Bouvain, P., Scholz, P., Altmuller, J., Becker, C., Gisselmann, G., Waring-Bischof, J., and Hatt, H. (2015). Ion transporter NKCC1, modulator of neurogenesis in murine olfactory neurons. The Journal of biological chemistry 290, 9767-9779.

Hallmann, K., Kudin, A.P., Zsurka, G., Kornblum, C., Reimann, J., Stuve, B., Waltz, S., Hattingen, E., Thiele, H., Nurnberg, P., Rub, C., Voos, W., Kopatz, J., Neumann, H., and Kunz, W.S. (2015). Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. Brain. doi: 10.1093/brain/awv357.

Hardies, K., de Kovel, C.G., Weckhuysen, S., Asselbergh, B., Geuens, T., Deconinck, T., Azmi, A., May, P., Brilstra, E., Becker, F., Barisic, N., Craiu, D., Braun, K.P., Lal, D., Thiele, H., Schubert, J., Weber, Y., van 't Slot, R., Nurnberg, P., Balling, R., Timmerman, V., Lerche, H., Maudsley, S., Helbig, I., Suls, A., Koeleman, B.P., and De Jonghe, P. (2015). Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia. Brain 138, 3238-3250.

Harley, M.E., Murina, O., Leitch, A., Higgs, M.R., Bicknell, L.S., Yigit, G., Blackford, A.N., Zlatanou, A., Mackenzie, K.J., Reddy, K., Halachev, M., McGlasson, S., Reijns, M.A., Fluteau, A., Martin, C.A., Sabbioneda, S., Elcioglu, N.H., Altmuller, J., Thiele, H., Greenhalgh, L., Chessa, L., Maghnie, M., Salim, M., Bober, M.B., Nurnberg, P., Jackson, S.P., Hurles, M.E., Wollnik, B., Stewart, G.S., and Jackson, A.P. (2016). TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet 48, 36-43.

Hedergott, A., Volk, A.E., Herkenrath, P., Thiele, H., Fricke, J., Altmuller, J., Nurnberg, P., Kubisch, C., and Neugebauer, A. (2015). Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. doi: 10.1007/s00417-015-3174-0.

Hennies, H.C. (2015). All is balanced: Inter-alpha-trypsin inhibitors as unseen extracellular matrix proteins in epidermal morphology and differentiation. Exp Dermatol. doi: 10.1111/exd.12771.

Horpaopan, S., Spier, I., Zink, A.M., Altmuller, J., Holzapfel, S., Laner, A., Vogt, S., Uhlhaas, S., Heilmann, S., Stienen, D., Pasternack, S.M., Keppler, K., Adam, R., Kayser, K., Moebus, S., Draaken, M., Degenhardt, F., Engels, H., Hofmann, A., Nothen, M.M., Steinke, V., Perez-Bouza, A., Herms, S., Holinski-Feder, E., Frohlich, H., Thiele, H., Hoffmann, P., and Aretz, S. (2015). Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis. International journal of cancer Journal international du cancer 136, E578-589.

Hossini, A.M., Megges, M., Prigione, A., Lichtner, B., Toliat, M.R., Wruck, W., Schroter, F., Nuernberg, P., Kroll, H., Makrantonaki, E., Zouboulis, C.C., and Adjaye, J. (2015). Induced pluripotent stem cell-derived neuronal cells from a sporadic Alzheimer's disease donor as a model for investigating AD-associated gene regulatory networks. Bmc Genomics 16, 84.

Hubers, A., Just, W., Rosenbohm, A., Muller, K., Marroquin, N., Goebel, I., Hogel, J., Thiele, H., Altmuller, J., Nurnberg, P., Weishaupt, J.H., Kubisch, C., Ludolph, A.C., and Volk, A.E. (2015). De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. Neurobiology of aging 36, 3117 e3111-3116.

Ikram, F., Ackermann, S., Kahlert, Y., Volland, R., Roels, F., Engesser, A., Hertwig, F., Kocak, H., Hero, B., Dreidax, D., Henrich, K.O., Berthold, F., Nurnberg, P., Westermann, F., and Fischer, M. (2015). Transcription factor activating protein 2 beta (TFAP2B) mediates noradrenergic neuronal differentiation in neuroblastoma. Molecular oncology. doi: 10.1016/j.molonc.2015.10.020.

Kakar, N., Ahmad, J., Morris-Rosendahl, D.J., Altmuller, J., Friedrich, K., Barbi, G., Nurnberg, P., Kubisch, C., Dobyns, W.B., and Borck, G. (2015). STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum Genet 134, 45-51.

Kanageswaran, N., Demond, M., Nagel, M., Schreiner, B.S., Baumgart, S., Scholz, P., Altmuller, J., Becker, C., Doerner, J.F., Conrad, H., Oberland, S., Wetzel, C.H., Neuhaus, E.M., Hatt, H., and Gisselmann, G. (2015). Deep sequencing of the murine olfactory receptor neuron transcriptome. PLoS ONE 10, e0113170.

Kawalia, A., Motameny, S., Wonczak, S., Thiele, H., Nieroda, L., Jabbari, K., Borowski, S., Sinha, V., Gunia, W., Lang, U., Achter, V., and Nurnberg, P. (2015). Leveraging the power of high performance computing for next generation sequencing data analysis: tricks and twists from a high throughput exome workflow. PLoS ONE 10, e0126321.

Konig, K., Peifer, M., Fassunke, J., Ihle, M.A., Kunstlinger, H., Heydt, C., Stamm, K., Ueckeroth, F., Vollbrecht, C., Bos, M., Gardizi, M., Scheffler, M., Nogova, L., Leenders, F., Albus, K., Meder, L., Becker, K., Florin, A., Rommerscheidt-Fuss, U., Altmuller, J., Kloth, M., Nurnberg, P., Henkel, T., Bikar, S.E., Sos, M.L., Geese, W.J., Strauss, L., Ko, Y.D., Gerigk, U., Odenthal, M., Zander, T., Wolf, J., Merkelbach-Bruse, S., Buettner, R., and Heukamp, L.C. (2015). Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 10, 1049-1057.

Kuechler, A., Altmuller, J., Nurnberg, P., Kotthoff, S., Kubisch, C., and Borck, G. (2015). Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. Molecular and cellular probes 29, 330-334.

Lal, D., Pernhorst, K., Klein, K.M., Reif, P., Tozzi, R., Toliat, M.R., Winterer, G., Neubauer, B., Nurnberg, P., Rosenow, F., Becker, F., Lerche, H., Kunz, W.S., Kurki, M.I., Hoffmann, P., Becker, A.J., Perucca, E., Zara, F., Sander, T., and Weber, Y.G. (2015). Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy. Epilepsia 56, e129-133.

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Leipold, E., Hanson-Kahn, A., Frick, M., Gong, P., Bernstein, J.A., Voigt, M., Katona, I., Oliver Goral, R., Altmuller, J., Nurnberg, P., Weis, J., Hubner, C.A., Heinemann, S.H., and Kurth, I. (2015). Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant. Nature communications 6, 10049.

Moosa, S., Chung, B.H., Tung, J.Y., Altmuller, J., Thiele, H., Nurnberg, P., Netzer, C., Nishimura, G., and Wollnik, B. (2015). Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. Clin Genet.

Moosbrugger-Martinz, V., Jalili, A., Schossig, A.S., Jahn-Bassler, K., Zschocke, J., Schmuth, M., Stingl, G., Eckl, K.M., Hennies, H.C., and Gruber, R. (2015). Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. Br J Dermatol 172, 1628-1632.

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Rosin, N., Elcioglu, N.H., Beleggia, F., Isguven, P., Altmuller, J., Thiele, H., Steindl, K., Joset, P., Rauch, A., Nurnberg, P., Wollnik, B., and Yigit, G. (2015). Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Hum Mol Genet 24, 3708-3717.

Rutsch, F., MacDougall, M., Lu, C., Buers, I., Mamaeva, O., Nitschke, Y., Rice, G.I., Erlandsen, H., Kehl, H.G., Thiele, H., Nurnberg, P., Hohne, W., Crow, Y.J., Feigenbaum, A., and Hennekam, R.C. (2015). A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am J Hum Genet 96, 275-282.

Schramm, A., Koster, J., Assenov, Y., Althoff, K., Peifer, M., Mahlow, E., Odersky, A., Beisser, D., Ernst, C., Henssen, A.G., Stephan, H., Schroder, C., Heukamp, L., Engesser, A., Kahlert, Y., Theissen, J., Hero, B., Roels, F., Altmuller, J., Nurnberg, P., Astrahantseff, K., Gloeckner, C., De Preter, K., Plass, C., Lee, S., Lode, H.N., Henrich, K.O., Gartlgruber, M., Speleman, F., Schmezer, P., Westermann, F., Rahmann, S., Fischer, M., Eggert, A., and Schulte, J.H. (2015). Mutational dynamics between primary and relapse neuroblastomas. Nat Genet 47, 872-877.

Scicluna, B.P., Klein Klouwenberg, P.M., van Vught, L.A., Wiewel, M.A., Ong, D.S., Zwinderman, A.H., Franitza, M., Toliat, M.R., Nurnberg, P., Hoogendijk, A.J., Horn, J., Cremer, O.L., Schultz, M.J., Bonten, M.J., and van der Poll, T. (2015). A molecular biomarker to diagnose community-acquired pneumonia on intensive care unit admission. Am J Respir Crit Care Med 192, 826-835.

Seifert, W., Kuhnisch, J., Maritzen, T., Lommatzsch, S., Hennies, H.C., Bachmann, S., Horn, D., and Haucke, V. (2015). Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. The Journal of biological chemistry 290, 3349-3358.

Siegert, S., Roewer, L., and Nothnagel, M. (2015). Shannon's equivocation for forensic Y-STR marker selection. Forensic science international Genetics 16, 216-225.

Spier, I., Holzapfel, S., Altmuller, J., Zhao, B., Horpaopan, S., Vogt, S., Chen, S., Morak, M., Raeder, S., Kayser, K., Stienen, D., Adam, R., Nurnberg, P., Plotz, G., Holinski-Feder, E., Lifton, R.P., Thiele, H., Hoffmann, P., Steinke, V., and Aretz, S. (2015). Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. International journal of cancer Journal international du cancer 137, 320-331.

Steckelberg, A.L., Altmueller, J., Dieterich, C., and Gehring, N.H. (2015). CWC22-dependent pre-mRNA splicing and eIF4A3 binding enables global deposition of exon junction complexes. Nucleic Acids Res 43, 4687-4700.

Stephen, L.A., Tawamie, H., Davis, G.M., Tebbe, L., Nurnberg, P., Nurnberg, G., Thiele, H., Thoenes, M., Boltshauser, E., Uebe, S., Rompel, O., Reis, A., Ekici, A.B., McTeir, L., Fraser, A.M., Hall, E.A., Mill, P., Daudet, N., Cross, C., Wolfrum, U., Jamra, R.A., Davey, M.G., and Bolz, H.J. (2015). TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). eLife 4.

Syrbe, S., Hedrich, U.B., Riesch, E., Djemie, T., Muller, S., Moller, R.S., Maher, B., Hernandez-Hernandez, L., Synofzik, M., Caglayan, H.S., Arslan, M., Serratosa, J.M., Nothnagel, M., May, P., Krause, R., Loffler, H., Detert, K., Dorn, T., Vogt, H., Kramer, G., Schols, L., Mullis, P.E., Linnankivi, T., Lehesjoki, A.E., Sterbova, K., Craiu, D.C., Hoffman-Zacharska, D., Korff, C.M., Weber, Y.G., Steinlin, M., Gallati, S., Bertsche, A., Bernhard, M.K., Merkenschlager, A., Kiess, W., Gonzalez, M., Zuchner, S., Palotie, A., Suls, A., De Jonghe, P., Helbig, I., Biskup, S., Wolff, M., Maljevic, S., Schule, R., Sisodiya, S.M., Weckhuysen, S., Lerche, H., and Lemke, J.R. (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet 47, 393-399.

Szczepanski, S., Hussain, M.S., Sur, I., Altmuller, J., Thiele, H., Abdullah, U., Waseem, S.S., Moawia, A., Nurnberg, G., Noegel, A.A., Baig, S.M., and Nurnberg, P. (2016). A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum Genet 135, 157-170.

Thoenes, M., Zimmermann, U., Ebermann, I., Ptok, M., Lewis, M.A., Thiele, H., Morlot, S., Hess, M.M., Gal, A., Eisenberger, T., Bergmann, C., Nurnberg, G., Nurnberg, P., Steel, K.P., Knipper, M., and Bolz, H.J. (2015). OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67). Orphanet J Rare Dis 10, 15.

Vogt, J., Yang, J.W., Mobascher, A., Cheng, J., Li, Y., Liu, X., Baumgart, J., Thalman, C., Kirischuk, S., Unichenko, P., Horta, G., Radyushkin, K., Stroh, A., Richers, S., Sahragard, N., Distler, U., Tenzer, S., Qiao, L., Lieb, K., Tuscher, O., Binder, H., Ferreiros, N., Tegeder, I., Morris, A.J., Gropa, S., Nurnberg, P., Toliat, M.R., Winterer, G., Luhmann, H.J., Huai, J., and Nitsch, R. (2015). Molecular cause and functional impact of altered synaptic lipid signaling due to a prg-1 gene SNP. EMBO molecular medicine 8, 25-38.

Widdig, A., Kessler, M.J., Bercovitch, F.B., Berard, J.D., Duggleby, C., Nurnberg, P., Rawlins, R.G., Sauermann, U., Wang, Q., Krawczak, M., and Schmidtke, J. (2015). Genetic studies on the Cayo Santiago rhesus macaques: A review of 40 years of research. Am J Primatol. doi: 10.1002/ajp.22424.

Witting, M., Molina, M., Obst, K., Plank, R., Eckl, K.M., Hennies, H.C., Calderon, M., Friess, W., and Hedtrich, S. (2015). Thermosensitive dendritic polyglycerol-based nanogels for cutaneous delivery of biomacromolecules. Nanomedicine : nanotechnology, biology, and medicine 11, 1179-1187.

Wolf, P., Yacubian, E.M., Avanzini, G., Sander, T., Schmitz, B., Wandschneider, B., and Koepp, M. (2015). Juvenile myoclonic epilepsy: A system disorder of the brain. Epilepsy Res 114, 2-12.

Yigit, G., Brown, K.E., Kayserili, H., Pohl, E., Caliebe, A., Zahnleiter, D., Rosser, E., Bogershausen, N., Uyguner, Z.O., Altunoglu, U., Nurnberg, G., Nurnberg, P., Rauch, A., Li, Y., Thiel, C.T., and Wollnik, B. (2015). Mutations in CDK5RAP2 cause Seckel syndrome. Molecular genetics & genomic medicine 3, 467-480.

Yigit, G., Wieczorek, D., Bogershausen, N., Beleggia, F., Moller-Hartmann, C., Altmuller, J., Thiele, H., Nurnberg, P., and Wollnik, B. (2015). A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation. American journal of medical genetics Part A. doi: 10.1002/ajmg.a.37484.

2014

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

Alnasif, N., Zoschke, C., Fleige, E., Brodwolf, R., Boreham, A., Rühl, E., Eckl, K.M., Merk, H.F., Hennies, H.C., Alexiev, U., Haag, R., Küchler, S., and Schäfer-Korting, M. (2014). Penetration of normal, damaged and diseased skin--an in vitro study on dendritic core-multishell nanotransporters. J Control Release 185, 45-50.

Altmüller, J., Budde, B.S., and Nürnberg, P. (2014). Enrichment of target sequences for next-generation sequencing applications in research and diagnostics. Biol Chem 395, 231-237.

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Assereto, S., Robbiano, A., Di Rocco, M., Rossi, A., Cassandrini, D., Panicucci, C., Brigati, G., Biancheri, R., Bruno, C., Minetti, C., Trucks, H., Sander, T., Zara, F., and Gazzerro, E. (2014). Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. Clin Genet 86, 99-101.

Barbaresko, J., Siegert, S., Koch, M., Aits, I., Lieb, W., Nikolaus, S., Laudes, M., Jacobs, G., and Nöthlings, U. (2014). Comparison of two exploratory dietary patterns in association with the metabolic syndrome in a Northern German population. Br J Nutr 112, 1364-1372.

Basmanav, B., Oprisoreanu, A., Fritz, G., Wenzel, J., Lestringant, G., Thiele, H., Hanneken, S., Bygum, A., and Betz, R. (2014). Mutations in POGLUT1 and POFUT1 cause Dowling-Degos disease and elucidate a gene-phenotype correlation. J Invest Dermatol 134 2, S53-S53.

Basmanav, F.B., Oprisoreanu, A.M., Pasternack, S.M., Thiele, H., Fritz, G., Wenzel, J., Größer, L., Wehner, M., Wolf, S., Fagerberg, C., Bygum, A., Altmüller, J., Rütten, A., Parmentier, L., El Shabrawi-Caelen, L., Hafner, C., Nürnberg, P., Kruse, R., Schoch, S., Hanneken, S., and Betz, R.C. (2014). Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet 94, 135-143.

Beck, B.B., Phillips, J.B., Bartram, M.P., Wegner, J., Thoenes, M., Pannes, A., Sampson, J., Heller, R., Göbel, H., Koerber, F., Neugebauer, A., Hedergott, A., Nürnberg, G., Nürnberg, P., Thiele, H., Altmüller, J., Toliat, M.R., Staubach, S., Boycott, K.M., Valente, E.M., Janecke, A.R., Eisenberger, T., Bergmann, C., Tebbe, L., Wang, Y., Wu, Y., Fry, A.M., Westerfield, M., Wolfrum, U., and Bolz, H.J. (2014). Mutation of POC1B in a severe syndromic retinal ciliopathy. Hum Mutat 35, 1153-1162.

Borck, G., de Vries, L., Wu, H.J., Smirin-Yosef, P., Nürnberg, G., Lagovsky, I., Ishida, L.H., Thierry, P., Wieczorek, D., Nürnberg, P., Foley, J., Kubisch, C., and Basel-Vanagaite, L. (2014). Homozygous truncating PTPRF mutation causes athelia. Hum Genet 133, 1041-1047.

Börsch-Haubold, A.G., Montero, I., Konrad, K., and Haubold, B. (2014). Genome-wide quantitative analysis of histone H3 lysine 4 trimethylation in wild house mouse liver: environmental change causes epigenetic plasticity. PLoS ONE 9, e97568.

Breitenkamp, A.F., Matthes, J., Nass, R.D., Sinzig, J., Lehmkuhl, G., Nürnberg, P., and Herzig, S. (2014). Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function. PLoS ONE 9, e95579.

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Cunha, D.L., Eckl, K.M., Rauch, M., Casper, R., Gupta, M., Nurnberg, P., Schmuth, M., Zschocke, J., Saric, T., and Hennies, H.C. (2014). Generation and characterization of induced Pluripotent Stem (iPS) cells from Autosomal Recessive Congenital Ichthyosis patients - a new model system to study rare keratinization disorders. J Invest Dermatol 134, S34-S34.

Dejanovic, B., Lal, D., Catarino, C.B., Arjune, S., Belaidi, A.A., Trucks, H., Vollmar, C., Surges, R., Kunz, W.S., Motameny, S., Altmüller, J., Köhler, A., Neubauer, B.A., Epicure, C., Nürnberg, P., Noachtar, S., Schwarz, G., and Sander, T. (2014). Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy. Neurobiol Dis 67, 88-96.

Doss, S., Lohmann, K., Seibler, P., Arns, B., Klopstock, T., Zühlke, C., Freimann, K., Winkler, S., Lohnau, T., Drungowski, M., Nürnberg, P., Wiegers, K., Lohmann, E., Naz, S., Kasten, M., Bohner, G., Ramirez, A., Endres, M., and Klein, C. (2014). Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation. J Neurol 261, 207-212.

Eckl, K.M., Weindl, G., Ackermann, K., Küchler, S., Casper, R., Radowski, M.R., Haag, R., Hennies, H.C., and Schäfer-Korting, M. (2014). Increased cutaneous absorption reflects impaired barrier function of reconstructed skin models mimicking keratinisation disorders. Exp Dermatol 23, 286-288.

Egbert, M.R., Fischer, J., Schlipf, N.A., Hennies, H.C., Hausser-Siller, I., Traupe, H., and Oji, V. (2014). Vitamin D status in different forms of ichthyosis in Germany: differences depending on the severity of hyperkeratosis and/or erythema and high prevalence of 25OHD deficiency and hyperparathyreoidism. J Dtsch Dermatol Ges 12 2, 4-5.

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Schwarzenberger, A., Sadler, T., Motameny, S., Ben-Khalifa, K., Frommolt, P., Altmüller, J., Konrad, K., and von Elert, E. (2014). Deciphering the genetic basis of microcystin tolerance. BMC Genomics 15, 776.

Smolonska, J., Koppelman, G.H., Wijmenga, C., Vonk, J.M., Zanen, P., Bruinenberg, M., Curjuric, I., Imboden, M., Thun, G.A., Franke, L., Probst-Hensch, N.M., Nürnberg, P., Riemersma, R.A., van Schayck, C.P., Loth, D.W., Brusselle, G.G., Stricker, B.H., Hofman, A., Uitterlinden, A.G., Lahousse, L., London, S.J., Loehr, L.R., Manichaikul, A., Barr, R.G., Donohue, K.M., Rich, S.S., Pare, P., Bossé, Y., Hao, K., van den Berge, M., Groen, H.J., Lammers, J.W., Mali, W., Boezen, H.M., and Postma, D.S. (2014). Common genes underlying asthma and COPD? Genome-wide analysis on the Dutch hypothesis. Eur Respir J 44, 860-872.

Stickel, F., Buch, S., Zoller, H., Hultcrantz, R., Gallati, S., Österreicher, C., Finkenstedt, A., Stadlmayr, A., Aigner, E., Sahinbegovic, E., Sarrazin, C., Schafmayer, C., Braun, F., Erhart, W., Nothnagel, M., Lerch, M.M., Mayerle, J., Völzke, H., Schaller, A., Kratzer, W., Boehm, B.O., Sipos, B., D'Amato, M., Torkvist, L., Stal, P., Arlt, A., Franke, A., Becker, T., Krawczak, M., Zwerina, J., Berg, T., Hinrichsen, H., Krones, E., Dejaco, C., Strasser, M., Datz, C., and Hampe, J. (2014). Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis. Hum Mol Genet 23, 3883-3890.

Vanni, N., Fruscione, F., Ferlazzo, E., Striano, P., Robbiano, A., Traverso, M., Sander, T., Falace, A., Gazzerro, E., Bramanti, P., Bielawski, J., Fassio, A., Minetti, C., Genton, P., and Zara, F. (2014). Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. Ann Neurol 76, 206-212.

Wu, G.A., Prochnik, S., Jenkins, J., Salse, J., Hellsten, U., Murat, F., Perrier, X., Ruiz, M., Scalabrin, S., Terol, J., Takita, M.A., Labadie, K., Poulain, J., Couloux, A., Jabbari, K., Cattonaro, F., Del Fabbro, C., Pinosio, S., Zuccolo, A., Chapman, J., Grimwood, J., Tadeo, F.R., Estornell, L.H., Muñoz-Sanz, J.V., Ibanez, V., Herrero-Ortega, A., Aleza, P., Pérez-Pérez, J., Ramón, D., Brunel, D., Luro, F., Chen, C., Farmerie, W.G., Desany, B., Kodira, C., Mohiuddin, M., Harkins, T., Fredrikson, K., Burns, P., Lomsadze, A., Borodovsky, M., Reforgiato, G., Freitas-Astúa, J., Quetier, F., Navarro, L., Roose, M., Wincker, P., Schmutz, J., Morgante, M., Machado, M.A., Talon, M., Jaillon, O., Ollitrault, P., Gmitter, F., and Rokhsar, D. (2014). Sequencing of diverse mandarin, pummelo and orange genomes reveals complex history of admixture during citrus domestication. Nat Biotechnol 32, 656-662.

 

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.

 

2012

Asharani,P.V., Keupp,K., Semler,O., Wang,W., Li,Y., Thiele,H., Yigit,G., Pohl,E., Becker,J., Frommolt,P., Sonntag,C., Altmüller,J., Zimmermann,K., Greenspan,D.S., Akarsu,N.A., Netzer,C., Schönau,E., Wirth,R., Hammerschmidt,M., Nürnberg,P., Wollnik,B., and Carney,T.J. (2012). Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet. 90, 661-674.

Aubin,H.J., Rollema,H., Svensson,T.H., and Winterer,G. (2012). Smoking, quitting, and psychiatric disease: a review. Neurosci Biobehav Rev. 36, 271-284.

Aufenvenne,K., Rice,R.H., Hausser,I., Oji,V., Hennies,H.C., Rio,M.D., Traupe,H., and Larcher,F. (2012). Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies. J Invest Dermatol. 132, 1918-1921.

Ballantyne,K.N., Keerl,V., Wollstein,A., Choi,Y., Zuniga,S.B., Ralf,A., Vermeulen,M., de Knijff,P., and Kayser,M. (2012). A new future of forensic Y-chromosome analysis: Rapidly mutating Y-STRs for differentiating male relatives and paternal lineages. Forensic Sci Int Genet. 6, 208-218.

Basel-Vanagaite,L., Dallapiccola,B., Ramirez-Solis,R., Segref,A., Thiele,H., Edwards,A., Arends,M.J., Miró,X., White,J.K., Désir,J., Abramowicz,M., Dentici,M.L., Lepri,F., Hofmann,K., Har-Zahav,A., Ryder,E., Karp,N.A., Estabel,J., Gerdin,A.K., Podrini,C., Ingham,N.J., Altmüller,J., Nürnberg,G., Frommolt,P., Abdelhak,S., Pasmanik-Chor,M., Konen,O., Kelley,R.I., Shohat,M., Nürnberg,P., Flint,J., Steel,K.P., Hoppe,T., Kubisch,C., Adams,D.J., and Borck,G. (2012). Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 91, 998-1010.

Bendon,C.L., Fenwick,A.L., Hurst,J.A., Nürnberg,G., Nürnberg,P., Wall,S.A., Wilkie,A.O., and Johnson,D. (2012). Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med Genet. 13, 104.

Bettecken,T., Frenkel,Z.M., Altmüller,J., Nürnberg,P., and Trifonov,E.N. (2012). Apoptotic cleavage of DNA in human lymphocyte chromatin shows high sequence specificity. J Biomol Struct Dyn. 30, 211-216.

Blaydon,D.C., Etheridge,S.L., Risk,J.M., Hennies,H.C., Gay,L.J., Carroll,R., Plagnol,V., McRonald,F.E., Stevens,H.P., Spurr,N.K., Bishop,D.T., Ellis,A., Jankowski,J., Field,J.K., Leigh,I.M., South,A.P., and Kelsell,D.P. (2012). RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet. 90, 340-346.

Borck,G., Kakar,N., Hoch,J., Friedrich,K., Freudenberg,J., Nürnberg,G., Yilmaz,R., Daud,S., Baloch,D.M., Nürnberg,P., Oldenburg,J., Ahmad,J., and Kubisch,C. (2012). An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group. Hum Genet. 131, 209-216.

Borck,G., Shin,B.S., Stiller,B., Mimouni-Bloch,A., Thiele,H., Kim,J.R., Thakur,M., Skinner,C., Aschenbach,L., Smirin-Yosef,P., Har-Zahav,A., Nürnberg,G., Altmüller,J., Frommolt,P., Hofmann,K., Konen,O., Nürnberg,P., Munnich,A., Schwartz,C.E., Gothelf,D., Colleaux,L., Dever,T.E., Kubisch,C., and Basel-Vanagaite,L. (2012). eIF2? Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation. Mol Cell. 48, 641-646.

Breitenkamp,A.F.S., Sinzig,J., Nurnberg,P., and Herzig,S. (2012). Autistic patients exhibit rare missense mutations in the calcium channel beta 2 subunit gene which result in a reduced time-dependent inactivation of Ca(V)1.2. Naunyn Schmiedebergs Arch Pharmacol. 385 1, 15-16.

Buers,I., Coelho,D., Kim,J.C., Miousse,I.R., du Moulin,M., Suormala,T., Nurnberg,P., Thiele,H., Hohne,W., Longo,N., Pasquali,M., Mengel,E., Watkins,D., Majewski,J., Rosenblatt,D.S., Fowler,B., Baumgartner,M.R., and Rutsch,F. (2012). Mutations in ABCD4 lead to a novel cobalamin complementation class. Eur J Pediatr. 171, 1427.

Chaki,M., Airik,R., Ghosh,A.K., Giles,R.H., Chen,R., Slaats,G.G., Wang,H., Hurd,T.W., Zhou,W., Cluckey,A., Gee,H.Y., Ramaswami,G., Hong,C.J., Hamilton,B.A., Cervenka,I., Ganji,R.S., Bryja,V., Arts,H.H., van Reeuwijk,J., Oud,M.M., Letteboer,S.J., Roepman,R., Husson,H., Ibraghimov-Beskrovnaya,O., Yasunaga,T., Walz,G., Eley,L., Sayer,J.A., Schermer,B., Liebau,M.C., Benzing,T., Le Corre,S., Drummond,I., Janssen,S., Allen,S.J., Natarajan,S., O'Toole,J.F., Attanasio,M., Saunier,S., Antignac,C., Koenekoop,R.K., Ren,H., Lopez,I., Nayir,A., Stoetzel,C., Dollfus,H., Massoudi,R., Gleeson,J.G., Andreoli,S.P., Doherty,D.G., Lindstrad,A., Golzio,C., Katsanis,N., Pape,L., Abboud,E.B., Al-Rajhi,A.A., Lewis,R.A., Omran,H., Lee,E.Y., Wang,S., Sekiguchi,J.M., Saunders,R., Johnson,C.A., Garner,E., Vanselow,K., Andersen,J.S., Shlomai,J., Nurnberg,G., Nurnberg,P., Levy,S., Smogorzewska,A., Otto,E.A., and Hildebrandt,F. (2012). Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 150, 533-548.

Cirak,S., Foley,R.A., Herrmann,R., Willer,T., Elisabeth,S., Yau,M., Brodd,L., Torelli,S., Kamynina,A., Vondracek,P., Roper,H., Longman,C., Korinthenberg,R., Marrosu,G., Nurnberg,P., Plagnol,V., Hurles,M., Sewry,C.A., Campbell,K.P., Voit,T., Muntoni,F., and UK,W.T. (2012). Mutations in the human isoprenoid synthase domain containing gene are a common cause of congenital and limb girdle muscular dystrophies. Neuromuscul Disord. 22, 812.

Coelho,D., Kim,J.C., Miousse,I.R., Fung,S., du Moulin,M., Buers,I., Suormala,T., Burda,P., Frapolli,M., Stucki,M., Nürnberg,P., Thiele,H., Robenek,H., Höhne,W., Longo,N., Pasquali,M., Mengel,E., Watkins,D., Shoubridge,E.A., Majewski,J., Rosenblatt,D.S., Fowler,B., Rutsch,F., and Baumgartner,M.R. (2012). Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. Nat Genet. 44, 1152-1155.

Cohrs,S., Rodenbeck,A., Riemann,D., Szagun,B., Jaehne,A., Brinkmeyer,J., Grunder,G., Wienker,T., az-Lacava,A., Mobascher,A., Dahmen,N., Thuerauf,N., Kornhuber,J., Kiefer,F., Gallinat,J., Wagner,M., Kunz,D., Grittner,U., and Winterer,G. (2012). Impaired sleep quality and sleep duration in smokers-results from the German Multicenter Study on Nicotine Dependence. Addict. Biol. 10-1600.

Dickmann,F., Falkner,J., Gunia,W., Hampe,J., Hausmann,M., Herrmann,A., Kepper,N., Knoch,T.A., Lauterbach,S., Lippert,J., Peter,K., Schmitt,E., Schwardmann,U., Solodenko,J., Sommerfeld,D., Steinke,T., Weisbecker,A., and Sax,U. (2012). Solutions for biomedical grid computing?CöCase studies from the D-Grid project Services@MediGRID. J Comput Sci. 3, 280-297.

Eisenberger,T., Slim,R., Mansour,A., Nauck,M., Nürnberg,G., Nürnberg,P., Decker,C., Dafinger,C., Ebermann,I., Bergmann,C., and Bolz,H.J. (2012). Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet J Rare Dis. 7, 59.

Elleder,D., Kim,O., Padhi,A., Bankert,J.G., Simeonov,I., Schuster,S.C., Wittekindt,N.E., Motameny,S., and Poss,M. (2012). Polymorphic integrations of an endogenous gammaretrovirus in the mule deer genome. J Virol. 86, 2787-2796.

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Weterman,M.A., Sorrentino,V., Kasher,P.R., Jakobs,M.E., van Engelen,B.G., Fluiter,K., de Wissel,M.B., Sizarov,A., Nürnberg,G., Nürnberg,P., Zelcer,N., Schelhaas,H.J., and Baas,F. (2012). A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. Hum Mol Genet. 21, 358-370.

Winterer,G. (2012). Differential Ketamine Effects on Clinical, Behavioral and Brain Function Outcome Measures: A Simultaneous fMRI/EEG Study. Biol Psychiatry. 71 S, 119S.

Wirth,C., Schubert,F., Lautenschlager,M., Brühl,R., Klär,A., Majic,T., Lang,U.E., Ehrlich,A., Winterer,G., Sander,T., Schouler-Ocak,M., and Gallinat,J. (2012). DTNBP1 (dysbindin) gene variants: in vivo evidence for effects on hippocampal glutamate status. Curr Pharm Biotechnol. 13, 1513-1521.

Würde,A.E., Reunert,J., Rust,S., Hertzberg,C., Haverkämper,S., Nürnberg,G., Nürnberg,P., Lehle,L., Rossi,R., and Marquardt,T. (2012). Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. Mol Genet Metab. 105, 634-641.

Yuksel-Apak,M., Bögershausen,N., Pawlik,B., Li,Y., Apak,S., Uyguner,O., Milz,E., Nürnberg,G., Karaman,B., Gülgören,A., Grzeschik,K.H., Nürnberg,P., Kayserili,H., and Wollnik,B. (2012). A large duplication involving the IHH locus mimics acrocallosal syndrome. Eur J Hum Genet. 20, 639-644.

 

2011

Ahmad,A., Daud,S., Kakar,N., Nurnberg,G., Nurnberg,P., Babar,M.E., Thoenes,M., Kubisch,C., Ahmad,J., and Bolz,H.J. (2011). Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. Molecular Vision 17, 1940-1945.

Arweiler-Harbeck,D., Horsthemke,B., Jahnke,K., and Hennies,H.C. (2011). Genetic Aspects of Familial Meniere's Disease. Otology & Neurotology 32, 695-700.

Baasanjav,S., Al-Gazali,L., Hashiguchi,T., Mizumoto,S., Fischer,B., Horn,D., Seelow,D., Ali,B.R., Aziz,S.A.A., Langer,R., Saleh,A.A.H., Becker,C., Nurnberg,G., Cantagrel,V., Gleeson,J.G., Gomez,D., Michel,J.B., Stricker,S., Lindner,T.H., Nurnberg,P., Sugahara,K., Mundlos,S., and Hoffmann,K. (2011). Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects. American Journal of Human Genetics 89, 15-27.

Baig,S.M., Koschak,A., Lieb,A., Gebhart,M., Dafinger,C., Nurnberg,G., Ali,A., Ahmad,I., Sinnegger-Brauns,M.J., Brandt,N., Engel,J., Mangoni,M.E., Farooq,M., Khan,H.U., Nurnberg,P., Striessnig,J., and Bolz,H.J. (2011). Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nature Neuroscience 14, 77-U107.

Blaydon,D.C., Nitoiu,D., Eckl,K.M., Cabral,R.M., Bland,P., Hausser,I., van Heel,D.A., Rajpopat,S., Fischer,J., Oji,V., Zvulunov,A., Traupe,H., Hennies,H.C., and Kelsell,D.P. (2011). Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion. American Journal of Human Genetics 89, 564-571.

Borck,G., Rehman,A.U., Lee,K., Pogoda,H.M., Kakar,N., von Ameln,S., Grillet,N., Hildebrand,M.S., Ahmed,Z.M., Nurnberg,G., Ansar,M., Basit,S., Javed,Q., Morell,R.J., Nasreen,N., Shearer,A.E., Ahmad,A., Kahrizi,K., Shaikh,R.S., Ali,R.A., Khan,S.N., Goebel,I., Meyer,N.C., Kimberling,W.J., Webster,J.A., Stephan,D.A., Schiller,M.R., Bahlo,M., Najmabadi,H., Gillespie,P.G., Nurnberg,P., Wollnik,B., Riazuddin,S., Smith,R.J.H., Ahmad,W., Muller,U., Hammerschmidt,M., Friedman,T.B., Riazuddin,S., Leal,S.M., Ahmad,J., and Kubisch,C. (2011). Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42. American Journal of Human Genetics 88, 127-137.

Breitling,L.P., Muller,H., Illig,T., Rujescu,D., Winterer,G., Dahmen,N., Nitz,B., Raum,E., Rothenbacher,D., and Brenner,H. (2011). Dopamine-related genes and spontaneous smoking cessation in ever-heavy smokers. Pharmacogenomics 12, 1099-1106.

Brinkmeyer,J., Mobascher,A., Musso,F., Schmitz,M., Wagner,M., Frommann,I., Grunder,G., Spreckelmeyer,K.N., Wienker,T., az-Lacava,A., Holler,D., Dahmen,N., Thuerauf,N., Clepce,M., Kiefer,F., de Millas,W., Gallinat,J., and Winterer,G. (2011). P50 sensory gating and smoking in the general population. Addiction Biology 16, 485-498.

Bundschuh,R., Altmuller,J., Becker,C., Nurnberg,P., and Gott,J.M. (2011). Complete characterization of the edited transcriptome of the mitochondrion of Physarum polycephalum using deep sequencing of RNA. Nucleic Acids Research 39, 6044-6055.

Dafinger,C., Liebau,M.C., Elsayed,S.M., Hellenbroich,Y., Boltshauser,E., Korenke,G.C., Fabretti,F., Janecke,A.R., Ebermann,I., Nurnberg,G., Nurnberg,P., Zentgraf,H., Koerber,F., Addicks,K., Elsobky,E., Benzing,T., Schermer,B., and Bolz,H.J. (2011). Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. Journal of Clinical Investigation 121, 2662-2667.

Debrah,A.Y., Batsa,L., Albers,A., Mand,S., Toliat,M.R., Nurnberg,P., Adjei,O., Hoerauf,A., and Pfarr,K. (2011). Transforming growth factor-beta 1 variant Leu10Pro is associated with both lack of microfilariae and differential microfilarial loads in the blood of persons infected with lymphatic filariasis. Human Immunology 72, 1143-1148.

Dolmans,G.H., Werker,P.M., Hennies,H.C., Furniss,D., Festen,E.A., Franke,L., Becker,K., van der Vlies,P., Wolffenbuttel,B.H., Tinschert,S., Toliat,M.R., Nothnagel,M., Franke,A., Klopp,N., Wichmann,H.E., Nurnberg,P., Giele,H., Ophoff,R.A., and Wijmenga,C. (2011). Wnt Signaling and Dupuytren's Disease. New England Journal of Medicine 365, 307-317.

du Moulin,M., Nurnberg,P., Crow,Y.J., and Rutsch,F. (2011). Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. Proceedings of the National Academy of Sciences of the United States of America 108, E232.

Ebermann,I., Phillips,J.B., Liebau,M.C., Koenekoop,R.K., Schermer,B., Lopez,I., Schafer,E., Roux,A.F., Dafinger,C., Bernd,A., Zrenner,E., Claustres,M., Blanco,B., Nurnberg,G., Nurnberg,P., Ruland,R., Westerfield,M., Benzing,T., and Bolz,H.J. (2011). PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome (vol 120, pg 1812, 2011). Journal of Clinical Investigation 121, 821.

Eckl,K.M., Alef,T., Torres,S., and Hennies,H.C. (2011). Full-Thickness Human Skin Models for Congenital Ichthyosis and Related Keratinization Disorders. Journal of Investigative Dermatology 131, 1938-1942.

Fatima,A., Xu,G.X., Shao,K.F., Papadopoulos,S., Lehmann,M., rnaiz-Cot,J.J., Rosa,A.O., Nguemo,F., Matzkies,M., Dittmann,S., Stone,S.L., Linke,M., Zechner,U., Beyer,V., Hennies,H.C., Rosenkranz,S., Klauke,B., Parwani,A.S., Haverkamp,W., Pfitzer,G., Farr,M., Cleemann,L., Morad,M., Milting,H., Hescheler,J., and Saric,T. (2011). In vitro Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells. Cellular Physiology and Biochemistry 28, 579-592.

Fuchs-Telem,D., Stewart,H., Rapaport,D., Nousbeck,J., Gat,A., Gini,M., Lugassy,Y., Emmert,S., Eckl,K., Hennies,H.C., Sarig,O., Goldsher,D., Meilik,B., Ishida-Yamamoto,A., Horowitz,M., and Sprecher,E. (2011). CEDNIK syndrome results from loss-of-function mutations in SNAP29. British Journal of Dermatology 164, 610-616.

Furniss,D., Dolmans,G.H.C.G., and Hennies,H.C. (2011). Genome-Wide Association Scan of Dupuytren's Disease. Journal of Hand Surgery-American Volume 36A, 755-756.

Giegling,I., Drago,A., Dolzan,V., Plesnicar,B.K., Schafer,M., Hartmann,A.M., Sander,T., Toliat,M.R., Moller,H.J., Stassen,H.H., Rujescu,D., and Serretti,A. (2011). Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol. Pharmacogenetics and Genomics 21, 206-216.

Giegling,I., Drago,A., Schafer,M., Hartmann,A.M., Sander,T., Toliat,M.R., Moller,H.J., De Ronchi,D., Stassen,H.H., Rujescu,D., and Serretti,A. (2011). Lack of association between 71 variations located in candidate genes and response to acute haloperidol treatment. Psychopharmacology 214, 719-728.

Gruber,R., Hennies,H.C., Romani,N., and Schmuth,M. (2011). A Novel Homozygous Missense Mutation in SLURP1 Causing Mal de Meleda With an Atypical Phenotype. Archives of Dermatology 147, 748-750.

Haberlova,J., Mazanec,R., Ridzon,P., Barankova,L., Nurnberg,G., Nurnberg,P., Sticht,H., Huehne,K., Seeman,P., and Rautenstrauss,B. (2011). Phenotypic Variability in a Large Czech Family with a Dynamin 2-Associated Charcot-Marie-Tooth Neuropathy. Journal of Neurogenetics 25, 182-188.

Heeringa,S.F., Chernin,G., Chaki,M., Zhou,W.B., Sloan,A.J., Ji,Z.M., Xie,L.X., Salviati,L., Hurd,T.W., Vega-Warner,V., Killen,P.D., Raphael,Y., Ashraf,S., Ovunc,B., Schoeb,D.S., McLaughlin,H.M., Airik,R., Vlangos,C.N., Gbadegesin,R., Hinkes,B., Saisawat,P., Trevisson,E., Doimo,M., Casarin,A., Pertegato,V., Giorgi,G., Prokisch,H., Rotig,A., Nurnberg,G., Becker,C., Wang,S., Ozaltin,F., Topaloglu,R., Bakkaloglu,A., Bakkaloglu,S.A., Muller,D., Beissert,A., Mir,S., Berdeli,A., Ozen,S., Zenker,M., Matejas,V., Santos-Ocana,C., Navas,P., Kusakabe,T., Kispert,A., Akman,S., Soliman,N.A., Krick,S., Mundel,P., Reiser,J., Nurnberg,P., Clarke,C.F., Wiggins,R.C., Faul,C., and Hildebrandt,F. (2011). COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. Journal of Clinical Investigation 121, 2013-2024.

Herrmann,A., Haake,A., Ammerpohl,O., Martin-Guerrero,I., Szafranski,K., Stemshorn,K., Nothnagel,M., Kotsopoulos,S.K., Richter,J., Warner,J., Olson,J., Link,D.R., Schreiber,S., Krawczak,M., Platzer,M., Nurnberg,P., Siebert,R., and Hampe,J. (2011). Pipeline for Large-Scale Microdroplet Bisulfite PCR-Based Sequencing Allows the Tracking of Hepitype Evolution in Tumors. Plos One 6.

Huang,L.J., Szymanska,K., Jensen,V.L., Janecke,A.R., Innes,A.M., Davis,E.E., Frosk,P., Li,C.M., Willer,J.R., Chodirker,B.N., Greenberg,C.R., Mcleod,D.R., Bernier,F.P., Chudley,A.E., Muller,T., Shboul,M., Logan,C.V., Loucks,C.M., Beaulieu,C.L., Bowie,R.V., Bell,S.M., Adkins,J., Zuniga,F.I., Ross,K.D., Wang,J., Ban,M.R., Becker,C., Nurnberg,P., Douglas,S., Craft,C.M., Akimenko,M.A., Hegele,R.A., Ober,C., Utermann,G., Bolz,H.J., Bulman,D.E., Katsanis,N., Blacque,O.E., Doherty,D., Parboosingh,J.S., Leroux,M.R., Johnson,C.A., and Boycott,K.M. (2011). TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone. American Journal of Human Genetics 89, 713-730.

Huebner,A.K., Gandia,M., Frommolt,P., Maak,A., Wicklein,E.M., Thiele,H., Altmuller,J., Wagner,F., Vinuela,A., Aguirre,L.A., Moreno,F., Maier,H., Rau,I., Giesselmann,S., Nurnberg,G., Gal,A., Nurnberg,P., Hubner,C.A., Del Castillo,I., and Kurth,I. (2011). Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss. American Journal of Human Genetics 88, 621-627.

Kalay,E., Yigit,G., Aslan,Y., Brown,K.E., Pohl,E., Bicknell,L.S., Kayserili,H., Li,Y., Tuysuz,B., Nurnberg,G., Kiess,W., Koegl,M., Baessmann,I., Buruk,K., Toraman,B., Kayipmaz,S., Kul,S., Ikbal,M., Turner,D.J., Taylor,M.S., Aerts,J., Scott,C., Milstein,K., Dollfus,H., Wieczorek,D., Brunner,H.G., Hurles,M., Jackson,A.P., Rauch,A., Nurnberg,P., Karaguzel,A., and Wollnik,B. (2011). CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nature Genetics 43, 23-26.

Koopmann,A., Dinter,C., Grosshans,M., von der Goltz,C., Hentschel,R., Dahmen,N., Gallinat,J., Wagner,M., Grunder,G., Thurauf,N., Wienker,T., Brinkmeyer,J., Mobascher,A., Spreckelmeyer,K.N., Clepce,M., de Millas,W., Wiedemann,K., Winterer,G., and Kiefer,F. (2011). Psychological and hormonal features of smokers at risk to gain weight after smoking cessation - Results of a multicenter study. Hormones and Behavior 60, 58-64.

Kuchler,S., Henkes,D., Eckl,K.M., Ackermann,K., Plendl,J., Korting,H.C., Hennies,H.C., and Schafer-Korting,M. (2011). Hallmarks of Atopic Skin Mimicked In Vitro by Means of a Skin Disease Model Based on FLG Knock-down. Atla-Alternatives to Laboratory Animals 39, 471-480.

Lenz,B., Sysk,C., Thuerauf,N., Clepce,M., Reich,K., Frieling,H., Winterer,G., Bleich,S., and Kornhuber,J. (2011). NACP-Rep1 relates to Beck Depression Inventory Scores in Healthy Humans. Journal of Molecular Neuroscience 44, 41-47.

Lindenberg,A., Brinkmeyer,J., Dahmen,N., Gallinat,J., de Millas,W., Mobascher,A., Wagner,M., Schulze-Rauschenbach,S., Grunder,G., Spreckelmeyer,K.N., Clepce,M., Thurauf,N., von der Goltz,C., Kiefer,F., Steffens,M., Holler,D., az-Lacava,A., Wienker,T., and Winterer,G. (2011). The German multi-centre study on smoking-related behavior-description of a population-based case-control study. Addiction Biology 16, 638-653.

Loeber,S., Vollstadt-Klein,S., Wilden,S., Schneider,S., Rockenbach,C., Dinter,C., von der Goltz,C., Hermann,D., Wagner,M., Winterer,G., and Kiefer,F. (2011). The effect of pictorial warnings on cigarette packages on attentional bias of smokers. Pharmacology Biochemistry and Behavior 98, 292-298.

Majic,T., Rentzsch,J., Gudlowski,Y., Ehrlich,S., Juckel,G., Sander,T., Lang,U.E., Winterer,G., and Gallinat,J. (2011). COMT Val(108/158)Met genotype modulates human sensory gating. Neuroimage 55, 818-824.

Musso,F., Brinkmeyer,J., Ecker,D., London,M.K., Thieme,G., Warbrick,T., Wittsack,H.J., Saleh,A., Greb,W., de Boer,P., and Winterer,G. (2011). Ketamine effects on brain function - Simultaneous fMRI/EEG during a visual oddball task. Neuroimage 58, 508-525.

Nousbeck,J., Ishida-Yamamoto,A., Bidder,M., Fuchs,D., Eckl,K., Hennies,H.C., Sagiv,N., Gat,A., Gini,M., Filip,I., Matz,H., Goldberg,I., Enk,C.D., Sarig,O., Meilik,B., Aberdam,D., Gilhar,A., and Sprecher,E. (2011). IGFBP7 as a Potential Therapeutic Target in Psoriasis. Journal of Investigative Dermatology 131, 1767-1770.

Pernhorst,K., Raabe,A., Niehusmann,P., van Loo,K.M.J., Grote,A., Hoffmann,P., Cichon,S., Sander,T., Schoch,S., and Becker,A.J. (2011). Promoter Variants Determine gamma-Aminobutyric Acid Homeostasis-Related Gene Transcription in Human Epileptic Hippocampi. Journal of Neuropathology and Experimental Neurology 70, 1080-1088.

Querings,S., Altmuller,J., Ansen,S., Zander,T., Seidel,D., Gabler,F., Peifer,M., Markert,E., Stemshorn,K., Timmermann,B., Saal,B., Klose,S., Ernestus,K., Scheffler,M., Engel-Riedel,W., Stoelben,E., Brambilla,E., Wolf,J., Nurnberg,P., and Thomas,R.K. (2011). Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens. Plos One 6.

Schmid,F., Glaus,E., Barthelmes,D., Fliegauf,M., Gaspar,H., Nurnberg,G., Nurnberg,P., Omran,H., Berger,W., and Neidhardt,J. (2011). U1 snRNA-Mediated Gene Therapeutic Correction of Splice Defects Caused by an Exceptionally Mild BBS Mutation. Human Mutation 32, 815-824.

Seifert,W., Kuhnisch,J., Maritzen,T., Horn,D., Haucke,V., and Hennies,H.C. (2011). Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity. Journal of Biological Chemistry 286, 37665-37675.

Vollstadt-Klein,S., Loeber,S., Winter,S., Lemenager,T., von der Goltz,C., Dinter,C., Koopmann,A., Wied,C., Winterer,G., and Kiefer,F. (2011). Attention Shift towards Smoking Cues Relates to Severity of Dependence, Smoking Behavior and Breath Carbon Monoxide. European Addiction Research 17, 217-224.

Warbrick,T., Mobascher,A., Brinkmeyer,J., Musso,F., Stoecker,T., Shah,N.J., Vossel,S., and Winterer,G. (2011). Direction and magnitude of nicotine effects on the fMRI BOLD response are related to nicotine effects on behavioral performance. Psychopharmacology 215, 333-344.

Weber,S., Thiele,H., Mir,S., Toliat,M.R., Sozeri,B., Reutter,H., Draaken,M., Ludwig,M., Altmuller,J., Frommolt,P., Stuart,H.M., Ranjzad,P., Hanley,N.A., Jennings,R., Newman,W.G., Wilcox,D.T., Thiel,U., Schlingmann,K.P., Beetz,R., Hoyer,P.F., Konrad,M., Schaefer,F., Nurnberg,P., and Woolf,A.S. (2011). Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome. American Journal of Human Genetics 89, 668-674.

Weiss,J., Sos,M.L., Seidel,D., Peifer,M., Zander,T., Heuckmann,J.M., Ullrich,R.T., Menon,R., Maier,S., Soltermann,A., Moch,H., Wagener,P., Fischer,F., Heynck,S., Koker,M., Schottle,J., Leenders,F., Gabler,F., Dabow,I., Querings,S., Heukamp,L.C., Balke-Want,H., Ansen,S., Rauh,D., Baessmann,I., Altmuller,J., Wainer,Z., Conron,M., Wright,G., Russell,P., Solomon,B., Brambilla,E., Brambilla,C., Lorimier,P., Sollberg,S., Brustugun,O.T., Engel-Riedel,W., Ludwig,C., Petersen,I., Sanger,J., Clement,J., Groen,H., Timens,W., Sietsma,H., Thunnissen,E., Smit,E., Heideman,D., Cappuzzo,F., Ligorio,C., Damiani,S., Hallek,M., Beroukhim,R., Pao,W., Klebl,B., Baumann,M., Buettner,R., Ernestus,K., Stoelben,E., Wolf,J., Nurnberg,P., Perner,S., and Thomas,R.K. (2011). Frequent and Focal FGFR1 Amplification Associates with Therapeutically Tractable FGFR1 Dependency in Squamous Cell Lung Cancer (vol 2, 62ra93, 2010). Science Translational Medicine 3.

 

2010

Brinkmeyer,J., Mobascher,A., Warbrick,T., Musso,F., Wittsack,H.J., Saleh,A., Schnitzler,A., and Winterer,G. (2010). Dynamic EEG-informed fMRI modeling of the pain matrix using 20-ms root mean square segments. Hum Brain Mapp.[Epub ahead of print]

Budde,H., Sander,T., Wernicke,C., Muller,A., Gallinat,J., Schmidt,L.G., and Smolka,M.N. (2010). Serotonin transporter promoter polymorphism and dopaminergic sensitivity in alcoholics. J Neural Transm. 117, 133-138.

Chernin,G., Heeringa,S.F., Vega-Warner,V., Schoeb,D.S., Nurnberg,P., and Hildebrandt,F. (2010). Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome. Pediatr. Nephrol. 25, 261-266.

Cirak,S., von,D.F., Sachdev,S., Errington,W.J., Herrmann,R., Bonnemann,C., Brockmann,K., Hinderlich,S., Lindner,T.H., Steinbrecher,A., Hoffmann,K., Prive,G.G., Hannink,M., Nurnberg,P., and Voit,T. (2010). Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain. 133, 2123-2135.

Cordes,J., Thunker,J., Agelink,M.W., Arends,M., Mobascher,A., Wobrock,T., Schneider-Axmann,T., Brinkmeyer,J., Mittrach,M., Regenbrecht,G., Wolwer,W., Winterer,G., and Gaebel,W. (2010). Effects of 10 Hz repetitive transcranial magnetic stimulation (rTMS) on clinical global impression in chronic schizophrenia. Psychiatry Res. 177, 32-36.

de Kovel,C.G., Trucks,H., Helbig,I., Mefford,H.C., Baker,C., Leu,C., Kluck,C., Muhle,H., von,S.S., Ostertag,P., Obermeier,T., Kleefuss-Lie,A.A., Hallmann,K., Steffens,M., Gaus,V., Klein,K.M., Hamer,H.M., Rosenow,F., Brilstra,E.H., Trenite,D.K., Swinkels,M.E., Weber,Y.G., Unterberger,I., Zimprich,F., Urak,L., Feucht,M., Fuchs,K., Moller,R.S., Hjalgrim,H., De,J.P., Suls,A., Ruckert,I.M., Wichmann,H.E., Franke,A., Schreiber,S., Nurnberg,P., Elger,C.E., Lerche,H., Stephani,U., Koeleman,B.P., Lindhout,D., Eichler,E.E., and Sander,T. (2010). Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain. 133, 23-32.

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

Dutrannoy,V., Demuth,I., Baumann,U., Schindler,D., Konrat,K., Neitzel,H., Gillessen-Kaesbach,G., Radszewski,J., Rothe,S., Schellenberger,M.T., Nurnberg,G., Nurnberg,P., Teik,K.W., Nallusamy,R., Reis,A., Sperling,K., Digweed,M., and Varon,R. (2010). Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. Hum Mutat. 31, 1059-1068.

Ebermann,I., Phillips,J.B., Liebau,M.C., Koenekoop,R.K., Schermer,B., Lopez,I., Schafer,E., Roux,A.F., Dafinger,C., Bernd,A., Zrenner,E., Claustres,M., Blanco,B., Nurnberg,G., Nurnberg,P., Ruland,R., Westerfield,M., Benzing,T., and Bolz,H.J. (2010). PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 120, 1812-1823.

Ermakov,S., Toliat,M.R., Cohen,Z., Malkin,I., Altmuller,J., Livshits,G., and Nurnberg,P. (2010). Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population. Bone. 46, 1244-1250.

Friedrich,K., Lee,L., Leistritz,D.F., Nurnberg,G., Saha,B., Hisama,F.M., Eyman,D.K., Lessel,D., Nurnberg,P., Li,C., Garcia,F., V, Kets,C.M., Schmidtke,J., Cruz,V.T., Van den Akker,P.C., Boak,J., Peter,D., Compoginis,G., Cefle,K., Ozturk,S., Lopez,N., Wessel,T., Poot,M., Ippel,P.F., Groff-Kellermann,B., Hoehn,H., Martin,G.M., Kubisch,C., and Oshima,J. (2010). WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet. 128, 103-111.

Gailus,S., Hohne,W., Gasnier,B., Nurnberg,P., Fowler,B., and Rutsch,F. (2010). Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease. J Mol Med. 88, 459-466.

Gailus,S., Suormala,T., Malerczyk-Aktas,A.G., Toliat,M.R., Wittkampf,T., Stucki,M., Nurnberg,P., Fowler,B., Hennermann,J.B., and Rutsch,F. (2010). A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient. J Inherit Metab Dis. 33, 17-24.

Gallinat,J., Schubert,F., Bruhl,R., Hellweg,R., Klar,A.A., Kehrer,C., Wirth,C., Sander,T., and Lang,U.E. (2010). Met carriers of BDNF Val66Met genotype show increased N-acetylaspartate concentration in the anterior cingulate cortex. Neuroimage. 49, 767-771.

Giegling,I., Drago,A., Dolzan,V., Plesnicar,B.K., Schafer,M., Hartmann,A.M., Sander,T., Toliat,M.R., Moller,H.J., Stassen,H.H., Rujescu,D., and Serretti,A. (2010). Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol. Pharmacogenet Genomics. [Epub ahead of print]

Iseri,S.U., Wyatt,A.W., Nurnberg,G., Kluck,C., Nurnberg,P., Holder,G.E., Blair,E., Salt,A., and Ragge,N.K. (2010). Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy. Hum Genet. 128, 51-60.

Knoblauch,H., Geier,C., Adams,S., Budde,B., Rudolph,A., Zacharias,U., Schulz-Menger,J., Spuler,A., Yaou,R.B., Nurnberg,P., Voit,T., Bonne,G., and Spuler,S. (2010). Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. Ann. Neurol. 67, 136-140.

Konrad,A., Dielentheis,T.F., El,M.D., Bayerl,M., Fehr,C., Gesierich,T., Vucurevic,G., Stoeter,P., and Winterer,G. (2010). Disturbed structural connectivity is related to inattention and impulsivity in adult attention deficit hyperactivity disorder. Eur J Neurosci. 31, 912-919.

Kornak,U., Brancati,F., Le,M.M., Lichtenbelt,K., Hohne,W., Tinschert,S., Garaci,F.G., Dallapiccola,B., and Nurnberg,P. (2010). Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. Am J Med Genet A. 152A, 870-874.

Krumbiegel,M., Pasutto,F., Schlotzer-Schrehardt,U., Uebe,S., Zenkel,M., Mardin,C.Y., Weisschuh,N., Paoli,D., Gramer,E., Becker,C., Ekici,A.B., Weber,B.H., Nurnberg,P., Kruse,F.E., and Reis,A. (2010). Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet.[Epub ahead of print]

Leineweber,K., Frey,U.H., Tenderich,G., Toliat,M.R., Zittermann,A., Nurnberg,P., Korfer,R., Siffert,W., and Heusch,G. (2010). The Arg16Gly-beta(2)-adrenoceptor single nucleotide polymorphism: exercise capacity and survival in patients with end-stage heart failure. Naunyn Schmiedebergs Arch Pharmacol. 382, 357-365.

Lenz,B., Klafki,H.W., Hillemacher,T., Killisch,N., Schaller,G., Frieling,H., Clepce,M., Gossler,A., Thuerauf,N., Winterer,G., Kornhuber,J., and Bleich,S. (2010). Smoking behaviour is associated with expression and phosphorylation of CREB in human buffy coat. Int J Neuropsychopharmacol. 13, 207-215.

Li,S.C., Chicherio,C., Nyberg,L., von,O.T., Nagel,I.E., Papenberg,G., Sander,T., Heekeren,H.R., Lindenberger,U., and Backman,L. (2010). Ebbinghaus revisited: influences of the BDNF Val66Met polymorphism on backward serial recall are modulated by human aging. J Cogn Neurosci. 22, 2164-2173.

Li,Y., Pawlik,B., Elcioglu,N., Aglan,M., Kayserili,H., Yigit,G., Percin,F., Goodman,F., Nurnberg,G., Cenani,A., Urquhart,J., Chung,B.D., Ismail,S., Amr,K., Aslanger,A.D., Becker,C., Netzer,C., Scambler,P., Eyaid,W., Hamamy,H., Clayton-Smith,J., Hennekam,R., Nurnberg,P., Herz,J., Temtamy,S.A., and Wollnik,B. (2010). LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. Am J Hum Genet. 86, 696-706.

Li,Y., Pohl,E., Boulouiz,R., Schraders,M., Nurnberg,G., Charif,M., Admiraal,R.J., von,A.S., Baessmann,I., Kandil,M., Veltman,J.A., Nurnberg,P., Kubisch,C., Barakat,A., Kremer,H., and Wollnik,B. (2010). Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss. Am J Hum Genet. 86, 479-484.

Mittrach,M., Thunker,J., Winterer,G., Agelink,M.W., Regenbrecht,G., Arends,M., Mobascher,A., Kim,S.J., Wolwer,W., Brinkmeyer,J., Gaebel,W., and Cordes,J. (2010). The tolerability of rTMS treatment in schizophrenia with respect to cognitive function. Pharmacopsychiatry. 43, 110-117.

Mobascher,A., Rujescu,D., Mittelstrass,K., Giegling,I., Lamina,C., Nitz,B., Brenner,H., Fehr,C., Breitling,L.P., Gallinat,J., Rothenbacher,D., Raum,E., Muller,H., Ruppert,A., Hartmann,A.M., Moller,H.J., Gal,A., Gieger,C., Wichmann,H.E., Illig,T., Dahmen,N., and Winterer,G. (2010). Association of a variant in the muscarinic acetylcholine receptor 2 gene (CHRM2) with nicotine addiction. Am J Med Genet B Neuropsychiatr Genet. 153B, 684-690.

Mobascher,A., Brinkmeyer,J., Warbrick,T., Musso,F., Schlemper,V., Wittsack,H.J., Saleh,A., Schnitzler,A., and Winterer,G. (2010). Brain activation patterns underlying fast habituation to painful laser stimuli. Int J Psychophysiol. 75, 16-24.

Mobascher,A., Brinkmeyer,J., Warbrick,T., Wels,C., Wagner,M., Grunder,G., Spreckelmeyer,K.N., Wienker,T., Diaz,L.A., Dahmen,N., Bottcher,M., Thuerauf,N., Clepce,M., Kiefer,F., De,M.W., Gallinat,J., and Winterer,G. (2010). The P300 event-related potential and smoking - A population-based case-control study. Int J Psychophysiol. 77, 166-175.

Mobascher,A., Brinkmeyer,J., Thiele,H., Toliat,M.R., Steffens,M., Warbrick,T., Musso,F., Wittsack,H.J., Saleh,A., Schnitzler,A., and Winterer,G. (2010). The val158met polymorphism of human catechol-O-methyltransferase (COMT) affects anterior cingulate cortex activation in response to painful laser stimulation. Mol Pain. 6, 32.

Muhle,H., von,S.S., Gaus,V., Kara,S., Helbig,I., Hampe,J., Franke,A., Weber,Y., Lerche,H., Kleefuss-Lie,A.A., Elger,C.E., Schreiber,S., Stephani,U., and Sander,T. (2010). Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis. Epilepsy Res. 89, 319-326.

Musso,F., Brinkmeyer,J., Mobascher,A., Warbrick,T., and Winterer,G. (2010). Spontaneous brain activity and EEG microstates. A novel EEG/fMRI analysis approach to explore resting-state networks. Neuroimage. 52, 1149-1161.

Opgen-Rhein,C., Brandl,E.J., Muller,D.J., Neuhaus,A.H., Tiwari,A.K., Sander,T., and Dettling,M. (2010). Association of HTR2C, but not LEP or INSIG2, genes with antipsychotic-induced weight gain in a German sample. Pharmacogenomics. 11, 773-780.

O'Toole,J.F., Liu,Y., Davis,E.E., Westlake,C.J., Attanasio,M., Otto,E.A., Seelow,D., Nurnberg,G., Becker,C., Nuutinen,M., Karppa,M., Ignatius,J., Uusimaa,J., Pakanen,S., Jaakkola,E., van den Heuvel,L.P., Fehrenbach,H., Wiggins,R., Goyal,M., Zhou,W., Wolf,M.T., Wise,E., Helou,J., Allen,S.J., Murga-Zamalloa,C.A., Ashraf,S., Chaki,M., Heeringa,S., Chernin,G., Hoskins,B.E., Chaib,H., Gleeson,J., Kusakabe,T., Suzuki,T., Isaac,R.E., Quarmby,L.M., Tennant,B., Fujioka,H., Tuominen,H., Hassinen,I., Lohi,H., van Houten,J.L., Rotig,A., Sayer,J.A., Rolinski,B., Freisinger,P., Madhavan,S.M., Herzer,M., Madignier,F., Prokisch,H., Nurnberg,P., Jackson,P.K., Khanna,H., Katsanis,N., and Hildebrandt,F. (2010). Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest. 120, 791-802.

Oji,V., Eckl,K.M., Aufenvenne,K., Natebus,M., Tarinski,T., Ackermann,K., Seller,N., Metze,D., Nurnberg,G., Folster-Holst,R., Schafer-Korting,M., Hausser,I., Traupe,H., and Hennies,H.C. (2010). Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet. 87, 274-281.

Oji,V., Tadini,G., Akiyama,M., Blanchet,B.C., Bodemer,C., Bourrat,E., Coudiere,P., DiGiovanna,J.J., Elias,P., Fischer,J., Fleckman,P., Gina,M., Harper,J., Hashimoto,T., Hausser,I., Hennies,H.C., Hohl,D., Hovnanian,A., Ishida-Yamamoto,A., Jacyk,W.K., Leachman,S., Leigh,I., Mazereeuw-Hautier,J., Milstone,L., Morice-Picard,F., Paller,A.S., Richard,G., Schmuth,M., Shimizu,H., Sprecher,E., Van,S.M., Taieb,A., Toro,J.R., Vabres,P., Vahlquist,A., Williams,M., and Traupe,H. (2010). Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. J Am Acad. Dermatol. 63, 607-641.

Otto,E.A., Hurd,T.W., Airik,R., Chaki,M., Zhou,W., Stoetzel,C., Patil,S.B., Levy,S., Ghosh,A.K., Murga-Zamalloa,C.A., van,R.J., Letteboer,S.J., Sang,L., Giles,R.H., Liu,Q., Coene,K.L., Estrada-Cuzcano,A., Collin,R.W., McLaughlin,H.M., Held,S., Kasanuki,J.M., Ramaswami,G., Conte,J., Lopez,I., Washburn,J., Macdonald,J., Hu,J., Yamashita,Y., Maher,E.R., Guay-Woodford,L.M., Neumann,H.P., Obermuller,N., Koenekoop,R.K., Bergmann,C., Bei,X., Lewis,R.A., Katsanis,N., Lopes,V., Williams,D.S., Lyons,R.H., Dang,C.V., Brito,D.A., Dias,M.B., Zhang,X., Cavalcoli,J.D., Nurnberg,G., Nurnberg,P., Pierce,E.A., Jackson,P.K., Antignac,C., Saunier,S., Roepman,R., Dollfus,H., Khanna,H., and Hildebrandt,F. (2010). Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 42, 840-850.

Pawlik,B., Mir,A., Iqbal,H., Li,Y., Nurnberg,G., Becker,C., Qamar,R., Nurnberg,P., and Wollnik,B. (2010). A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. Mol Syndromol. 1, 27-34.

Preuschhof,C., Heekeren,H.R., Li,S.C., Sander,T., Lindenberger,U., and Backman,L. (2010). KIBRA and CLSTN2 polymorphisms exert interactive effects on human episodic memory. Neuropsychologia. 48, 402-408.

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

Steffens,M., Becker,T., Sander,T., Fimmers,R., Herold,C., Holler,D.A., Leu,C., Herms,S., Cichon,S., Bohn,B., Gerstner,T., Griebel,M., Nothen,M.M., Wienker,T.F., and Baur,M.P. (2010). Feasible and successful: genome-wide interaction analysis involving all 1.9 x 10(11) pair-wise interaction tests. Hum Hered. 69, 268-284.

Thiele,H., du,M.M., Barczyk,K., George,C., Schwindt,W., Nurnberg,G., Frosch,M., Kurlemann,G., Roth,J., Nurnberg,P., and Rutsch,F. (2010). Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutieres syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat. [Epub ahead of print]

Trindade,F., Fiadeiro,T., Torrelo,A., Hennies,H.C., Hausser,I., and Traupe,H. (2010). Bathing suit ichthyosis. Eur J Dermatol. 20, 447-450.

Truong,T., Hung,R.J., Amos,C.I., Wu,X., Bickeboller,H., Rosenberger,A., Sauter,W., Illig,T., Wichmann,H.E., Risch,A., Dienemann,H., Kaaks,R., Yang,P., Jiang,R., Wiencke,J.K., Wrensch,M., Hansen,H., Kelsey,K.T., Matsuo,K., Tajima,K., Schwartz,A.G., Wenzlaff,A., Seow,A., Ying,C., Staratschek-Jox,A., Nurnberg,P., Stoelben,E., Wolf,J., Lazarus,P., Muscat,J.E., Gallagher,C.J., Zienolddiny,S., Haugen,A., van der Heijden,H.F., Kiemeney,L.A., Isla,D., Mayordomo,J.I., Rafnar,T., Stefansson,K., Zhang,Z.F., Chang,S.C., Kim,J.H., Hong,Y.C., Duell,E.J., Andrew,A.S., Lejbkowicz,F., Rennert,G., Muller,H., Brenner,H., Le,M.L., Benhamou,S., Bouchardy,C., Teare,M.D., Xue,X., McLaughlin,J., Liu,G., McKay,J.D., Brennan,P., and Spitz,M.R. (2010). Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. J Natl. Cancer Inst. 102, 959-971.

Vistoropsky,Y., Ermakov,S., Toliat,M.R., Trofimov,S., Altmuller,J., Malkin,I., Nurnberg,P., and Livshits,G. (2010). Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms. Cytokine. 51, 28-34.

von der Goltz,C., Koopmann,A., Dinter,C., Richter,A., Rockenbach,C., Grosshans,M., Nakovics,H., Wiedemann,K., Mann,K., Winterer,G., and Kiefer,F. (2010). Orexin and leptin are associated with nicotine craving: a link between smoking, appetite and reward. Psychoneuroendocrinology. 35, 570-577.

von Spiczak,S., Muhle,H., Helbig,I., de Kovel,C.G., Hampe,J., Gaus,V., Koeleman,B.P., Lindhout,D., Schreiber,S., Sander,T., and Stephani,U. (2010). Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity. Neuromolecular. Med. 12, 292-299.

Winterer,G. (2010). Why do patients with schizophrenia smoke? Curr Opin. Psychiatry. 23, 112-119.

Winterer,G., Mittelstrass,K., Giegling,I., Lamina,C., Fehr,C., Brenner,H., Breitling,L.P., Nitz,B., Raum,E., Muller,H., Gallinat,J., Gal,A., Heim,K., Prokisch,H., Meitinger,T., Hartmann,A.M., Moller,H.J., Gieger,C., Wichmann,H.E., Illig,T., Dahmen,N., and Rujescu,D. (2010). Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance. Am J Med Genet B Neuropsychiatr Genet. [Epub ahead of print]

 

2009

Chioza,B.A., Aicardi,J., Aschauer,H., Brouwer,O., Callenbach,P., Covanis,A., Dooley,J.M., Dulac,O., Durner,M., Eeg-Olofsson,O., Feucht,M., Friis,M.L., Guerrini,R., Kjeldsen,M.J., Nabbout,R., Nashef,L., Sander,T., Sirén,A., Wirrell,E., McKeigue,P., Robinson,R., Gardiner,R.M., and Everett,K.V. (2009). Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14. Epilepsy Res. 87, 247-255.

Chung,B.D., Kayserili,H., Ai,M., Freudenberg,J., Uzumcu,A., Uyguner,O., Bartels,C.F., Honing,S., Ramirez,A., Hanisch,F.G., Nurnberg,G., Nurnberg,P., Warman,M.L., Wollnik,B., Kubisch,C., and Netzer,C. (2009). A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats. Hum Mutat. 30, 641-648.

Dathe,K., Kjaer,K.W., Brehm,A., Meinecke,P., Nurnberg,P., Neto,J.C., Brunoni,D., Tommerup,N., Ott,C.E., Klopocki,E., Seemann,P., and Mundlos,S. (2009). Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet. 84, 483-492.

de Kovel,C.G., Trucks,H., Helbig,I., Mefford,H.C., Baker,C., Leu,C., Kluck,C., Muhle,H., von,S.S., Ostertag,P., Obermeier,T., Kleefuss-Lie,A.A., Hallmann,K., Steffens,M., Gaus,V., Klein,K.M., Hamer,H.M., Rosenow,F., Brilstra,E.H., Trenite,D.K., Swinkels,M.E., Weber,Y.G., Unterberger,I., Zimprich,F., Urak,L., Feucht,M., Fuchs,K., Moller,R.S., Hjalgrim,H., De,J.P., Suls,A., Ruckert,I.M., Wichmann,H.E., Franke,A., Schreiber,S., Nurnberg,P., Elger,C.E., Lerche,H., Stephani,U., Koeleman,B.P., Lindhout,D., Eichler,E.E., and Sander,T. (2010). Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain. 133, 23-32.

Dibbens,L.M., Mullen,S., Helbig,I., Mefford,H.C., Bayly,M.A., Bellows,S., Leu,C., Trucks,H., Obermeier,T., Wittig,M., Franke,A., Caglayan,H., Yapici,Z., Sander,T., Eichler,E.E., Scheffer,I.E., Mulley,J.C., and Berkovic,S.F. (2009). Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet. 18, 3626-3631.

El-Harith,e.H., Roesl,C., Ballmaier,M., Germeshausen,M., Frye-Boukhriss,H., von Neuhoff,N., Becker,C., Nürnberg,G., Nürnberg,P., Ahmed,M.A., Hübener,J., Schmidtke,J., Welte,K., and Stuhrmann,M. (2009). Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. Br J Haematol. 144, 185-194.

Hansen,L., Mikkelsen,A., Nurnberg,P., Nurnberg,G., Anjum,I., Eiberg,H., and Rosenberg,T. (2009). Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci. 50, 3291-3303.

Haug,K., Warnstedt,M., Alekov,A.K., Sander,T., Ramirez,A., Poser,B., Maljevic,S., Hebeisen,S., Kubisch,C., Rebstock,J., Horvath,S., Hallmann,K., Dullinger,J.S., Rau,B., Haverkamp,F., Beyenburg,S., Schulz,H., Janz,D., Giese,B., Muller-Newen,G., Propping,P., Elger,C.E., Fahlke,C., and Lerche,H. (2009). Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet. 41, 1043.

Heinz-Erian,P., Muller,T., Krabichler,B., Schranz,M., Becker,C., Ruschendorf,F., Nurnberg,P., Rossier,B., Vujic,M., Booth,I.W., Holmberg,C., Wijmenga,C., Grigelioniene,G., Kneepkens,C.M., Rosipal,S., Mistrik,M., Kappler,M., Michaud,L., Doczy,L.C., Siu,V.M., Krantz,M., Zoller,H., Utermann,G., and Janecke,A.R. (2009). Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet. 84, 188-196.

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

Henneke,M., Diekmann,S., Ohlenbusch,A., Kaiser,J., Engelbrecht,V., Kohlschutter,A., Kratzner,R., Madruga-Garrido,M., Mayer,M., Opitz,L., Rodriguez,D., Ruschendorf,F., Schumacher,J., Thiele,H., Thoms,S., Steinfeld,R., Nurnberg,P., and Gartner,J. (2009). RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet. 41, 773-775.

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

Hoffmann,K., Planitz,C., Ruschendorf,F., Muller-Myhsok,B., Stassen,H.H., Lucke,B., Mattheisen,M., Stumvoll,M., Bochmann,R., Zschornack,M., Wienker,T.F., Nurnberg,P., Reis,A., Luft,F.C., and Lindner,T.H. (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. J Hypertens. 27, 983-990.

Iseri,S.U., Osborne,R.J., Farrall,M., Wyatt,A.W., Mirza,G., Nurnberg,G., Kluck,C., Herbert,H., Martin,A., Hussain,M.S., Collin,J.R., Lathrop,M., Nurnberg,P., Ragoussis,J., and Ragge,N.K. (2009). Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. Hum Mutat. 30, 1378-1386.

Karsak,M., Malkin,I., Toliat,M.R., Kubisch,C., Nurnberg,P., Zimmer,A., and Livshits,G. (2009). The cannabinoid receptor type 2 (CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample. Hum Genet. [Epub ahead of print].

Kemp,C., Thiele,H., Dankof,A., Schmidt,G., Lauster,C., Fernahl,G., and Lauster,R. (2009). Cleft lip and/or palate with monogenic autosomal recessive transmission in Pyrenees shepherd dogs. Cleft Palate Craniofac J. 46, 81-88.

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

Kurth,I., Pamminger,T., Hennings,J.C., Soehendra,D., Huebner,A.K., Rotthier,A., Baets,J., Senderek,J., Topaloglu,H., Farrell,S.A., Nürnberg,G., Nürnberg,P., De Jonghe,P., Gal,A., Kaether,C., Timmerman,V., and Hübner,C.A. (2009). Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 41, 1179-1181.

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

Leroy,B.P., Budde,B.S., Wittmer,M., De Baere,E., Berger,W., and Zeitz,C. (2009). A common NYX mutation in Flemish patients with X linked CSNB. Br J Ophthalmol. 93, 692-696.

Loges,N.T., Olbrich,H., Becker-Heck,A., Häffner,K., Heer,A., Reinhard,C., Schmidts,M., Kispert,A., Zariwala,M.A., Leigh,M.W., Knowles,M.R., Zentgraf,H., Seithe,H., Nürnberg,G., Nürnberg,P., Reinhardt,R., and Omran,H. (2009). Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet. 85, 883-889.

Lu,T.T., Lao,O., Nothnagel,M., Junge,O., Freitag-Wolf,S., Caliebe,A., Balascakova,M., Bertranpetit,J., Bindoff,L.A., Comas,D., Holmlund,G., Kouvatsi,A., Macek,M., Mollet,I., Nielsen,F., Parson,W., Palo,J., Ploski,R., Sajantila,A., Tagliabracci,A., Gether,U., Werge,T., Rivadeneira,F., Hofman,A., Uitterlinden,A.G., Gieger,C., Wichmann,H.E., Ruether,A., Schreiber,S., Becker,C., Nurnberg,P., Nelson,M.R., Kayser,M., and Krawczak,M. (2009). An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population. Eur J Hum Genet. 17, 967-975.

Megarbane,A., Slim,R., Nurnberg,G., Ebermann,I., Nurnberg,P., and Bolz,H.J. (2009). A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. Eur J Hum Genet. 17, 1076-1079.

Metherell,L.A., Naville,D., Halaby,G., Begeot,M., Huebner,A., Nurnberg,G., Nurnberg,P., Green,J., Tomlinson,J.W., Krone,N.P., Lin,L., Racine,M., Berney,D.M., Achermann,J.C., Arlt,W., and Clark,A.J. (2009). Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol. Metab. 94, 3865-3871.

Muhammad,F., Mahmood,B.S., Hansen,L., Sajid,H.M., Anjum,I., I, Aslam,M., Anver,Q.J., Toilat,M., Kirst,E., Wajid,M., Nurnberg,P., Eiberg,H., Tommerup,N., and Kjaer,K.W. (2009). Compound heterozygous ASPM mutations in Pakistani MCPH families. Am J Med Genet A. 149A, 926-930.

Neuhaus,A.H., Opgen-Rhein,C., Urbanek,C., Hahn,E., Ta,T.M., Seidelsohn,M., Strathmann,S., Kley,F., Wieseke,N., Sander,T., and Dettling,M. (2009). COMT Val 158 Met polymorphism is associated with cognitive flexibility in a signal discrimination task in schizophrenia. Pharmacopsychiatry. 42, 141-144.

Otto,E.A., Tory,K., Attanasio,M., Zhou,W., Chaki,M., Paruchuri,Y., Wise,E.L., Wolf,M.T., Utsch,B., Becker,C., Nurnberg,G., Nurnberg,P., Nayir,A., Saunier,S., Antignac,C., and Hildebrandt,F. (2009). Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet. 46, 663-670.

Preuschhof,C., Heekeren,H.R., Li,S.C., Sander,T., Lindenberger,U., and Backman,L. (2009). KIBRA and CLSTN2 polymorphisms exert interactive effects on human episodic memory. Neuropsychologia. 48, 402-408.

Puk,O., Esposito,I., Soker,T., Loster,J., Budde,B., Nurnberg,P., Michel-Soewarto,D., Fuchs,H., Wolf,E., Hrabe de,A.M., and Graw,J. (2009). A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease? Invest Ophthalmol. Vis. Sci. 50, 4311-4318.

Rakovic,A., Stiller,B., Djarmati,A., Flaquer,A., Freudenberg,J., Toliat,M.R., Linnebank,M., Kostic,V., Lohmann,K., Paus,S., Nurnberg,P., Kubisch,C., Klein,C., Wullner,U., and Ramirez,A. (2009). Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease. Mov Disord. 24, 429-433.

Reversade,B., Escande-Beillard,N., Dimopoulou,A., Fischer,B., Chng,S.C., Li,Y., Shboul,M., Tham,P.Y., Kayserili,H., Al-Gazali,L., Shahwan,M., Brancati,F., Lee,H., O'Connor,B.D., Schmidt-von,K.M., Merriman,B., Nelson,S.F., Masri,A., Alkazaleh,F., Guerra,D., Ferrari,P., Nanda,A., Rajab,A., Markie,D., Gray,M., Nelson,J., Grix,A., Sommer,A., Savarirayan,R., Janecke,A.R., Steichen,E., Sillence,D., Hausser,I., Budde,B., Nurnberg,G., Nurnberg,P., Seemann,P., Kunkel,D., Zambruno,G., Dallapiccola,B., Schuelke,M., Robertson,S., Hamamy,H., Wollnik,B., Van,M.L., Mundlos,S., and Kornak,U. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nat. Genet. 41, 1016-1021.

Rutsch,F., Gailus,S., Miousse,I.R., Suormala,T., Sagne,C., Toliat,M.R., Nurnberg,G., Wittkampf,T., Buers,I., Sharifi,A., Stucki,M., Becker,C., Baumgartner,M., Robenek,H., Marquardt,T., Hohne,W., Gasnier,B., Rosenblatt,D.S., Fowler,B., and Nurnberg,P. (2009). Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet. 41, 234-239.

Seelow,D., Schuelke,M., Hildebrandt,F., and Nurnberg,P. (2009). HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res. 37, W593-W599.

Seifert,W., Holder-Espinasse,M., Kühnisch,J., Kahrizi,K., Tzschach,A., Garshasbi,M., Najmabadi,H., Walter Kuss,A., Kress,W., Laureys,G., Loeys,B., Brilstra,E., Mancini,G.M., Dollfus,H., Dahan,K., Apse,K., Christian Hennies,H., and Horn,D. (2009). Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat. 30, E404-E420.

Siddiqui,R.A., Sauermann,U., Altmuller,J., Fritzer,E., Nothnagel,M., Dalibor,N., Fellay,J., Kaup,F.J., Stahl-Hennig,C., Nurnberg,P., Krawczak,M., and Platzer,M. (2009). X chromosomal variation is associated with slow progression to AIDS in HIV-1-infected women. Am J Hum Genet. 85, 228-239.

Todt,U., Netzer,C., Toliat,M., Heinze,A., Goebel,I., Nurnberg,P., Gobel,H., Freudenberg,J., and Kubisch,C. (2009). New genetic evidence for involvement of the dopamine system in migraine with aura. Hum Genet. 125, 265-279.

Twigg,S.R., Versnel,S.L., Nurnberg,G., Lees,M.M., Bhat,M., Hammond,P., Hennekam,R.C., Hoogeboom,A.J., Hurst,J.A., Johnson,D., Robinson,A.A., Scambler,P.J., Gerrelli,D., Nurnberg,P., Mathijssen,I.M., and Wilkie,A.O. (2009). Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene. Am J Hum Genet. 84, 698-705.

zur Stadt,U., Rohr,J., Seifert,W., Koch,F., Grieve,S., Pagel,J., Strauss,J., Kasper,B., Nürnberg,G., Becker,C., Maul-Pavicic,A., Beutel,K., Janka,G., Griffiths,G., Ehl,S., and Hennies,H.C. (2009). Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am J Hum Genet. 85, 482-492.

 

2008

Alef,T., Torres,S., Eckl,K.M., Kolberg,S., Hausser,I., Metze,D., Lestringant,G.G., and Hennies,H.C. (2008). Analysis of 3D skin models mimicking a syndrome of ichthyosis, follicular atrophoderma, and hypotrichosis. J Invest Dermatol. 128 Suppl., 759.

Aufenvenne,K., Oji,V., Walker,T., Hennies,H., Bruckner,P., and Trouper,H. (2008). Transglutamiase-1 and bathing suit ichthyosis: Molecular analysis of gene/environment interactions. J Invest Dermatol. 128 Suppl., 704.

Bergmann,C., Fliegauf,M., Brüchle,N.O., Frank,V., Olbrich,H., Kirschner,J., Schermer,B., Schmedding,I., Kispert,A., Kränzlin,B., Nürnberg,G., Becker,C., Grimm,T., Girschick,G., Lynch,S.A., Kelehan,P., Senderek,J., Neuhaus,T.J., Stallmach,T., Zentgraf,H., Nürnberg,P., Gretz,N., Lo,C., Lienkamp,S., Schäfer,T., Walz,G., Benzing,T., Zerres,K., and Omran,H. (2008). Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet. 82, 959-970.

Boulouiz,R., Li,Y., Soualhine,H., Abidi,O., Chafik,A., Nürnberg,G., Becker,C., Nürnberg,P., Kubisch,C., Wollnik,B., and Barakat,A. (2008). A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. Am J Med Genet A. 146A, 3086-3089.

Bruck,H., Schwerdtfeger,T., Leineweber,K., Toliat,M.R., Kribben,A., Philipp,T., and Brodde,O.E. (2008). Functional importance of alpha 2CDel-adrenoceptor polymorphism in Caucasians under conditions of increased and reduced sympathetic activity. J Hypertens. 26 Suppl., S129.

Budde,B.S., Namavar,Y., Barth,P.G., Poll-The,B., Nürnberg,G., Becker,C., van Ruissen,F., Weterman,M.A., Fluiter,K., te,B.E., Aronica,E., van der Knaap,M.S., Höhne,W., Toliat,M.R., Crow,Y.J., Steinling,M., Voit,T., Roelenso,F., Brussel,W., Brockmann,K., Kyllerman,M., Boltshauser,E., Hammersen,G., Willemsen,M., Basel-Vanagaite,L., Krägeloh-Mann,I., de Vries,L.S., Sztriha,L., Muntoni,F., Ferrie,C.D., Battini,R., Hennekam,R.C., Grillo,E., Beemer,F.A., Stoets,L.M., Wollnik,B., Wollnik,B., Nürnberg,P., Nürnberg,P., and Baas,F. (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nat Genet. 40, 1113-1118.

Douysset,G., Sander,T., Gouriou,J., and Nutbrown,R. (2008). Comparison of air kerma standards of LNE-LNHB and NPL for 192Ir HDR brachytherapy sources: EUROMET project no 814. Phys Med Biol. 53, N85-N97.

Ebermann,I., Elsayed,S.M., bdel-Ghaffar,T.Y., Nürnberg,G., Nürnberg,P., Elsobky,E., and Bolz,H.J. (2008). Double homozygosity for mutations of AGL and SCN9A mimicking neurohepatopathy syndrome. Neurology. 70, 2343-2344.

Eckl,K.M., Torres,S., Alef,T., and Hennies,H.C. (2008). 3D skin models and keratinisation disorders: who mimics whom? J Invest Dermatol. 128 Suppl., 737.

Eitel,I., Behrendt,F., Schindler,K., Kivelitz,D., Gutberlet,M., Schuler,G., and Thiele,H. (2008). Differential diagnosis of suspected apical ballooning syndrome using contrast-enhanced magnetic resonance imaging. Eur Heart J. 29, 2651-2659.

Everett,K., Chioza,B., Aicardi,J., Aschauer,H., Brouwer,O., Callenbach,P., Covanis,A., Dulac,O., Eeg-Olofsson,O., Feucht,M., Friis,M., Goutieres,F., Guerrini,R., Heils,A., Kjeldsen,M., Lehesjoki,A.E., Makoff,A., Nabbout,R., Olsson,I., Sander,T., Siren,A., McKeigue,P., Robinson,R., Taske,N., Rees,M., and Gardiner,M. (2008). Linkage and association analysis of CACNG3 in childhood absence epilepsy (vol 15, pg 463, 2007). Eur J Hum Genet. 16, 659-660.

Frank,V., den Hollander,A.I., Brüchle,N.O., Zonneveld,M.N., Nürnberg,G., Becker,C., Du Bois,G., Kendziorra,H., Roosing,S., Senderek,J., Nürnberg,P., Cremers,F.P., Zerres,K., and Bergmann,C. (2008). Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat. 29, 45-52.

Franke,A., Fischer,A., Till,A., Lu,T.T., Becker,C., Muller-Quernheim,J., Wittig,M., Herrmann,A., Balschun,T.C., Hofmann,S., Nurnberg,P., Hampe,J., Krawczak,M., Schurmann,M., Rosenstiel,P.C., Nebel,A., and Schreiber,S. (2008). A combined analysis of genome-wide scans for sarcoidosis and Crohn disease identifies a common susceptibility locus. Gastroenterology. 134 Suppl., A522.

Franke,A., Fischer,A., Nothnagel,M., Becker,C., Grabe,N., Till,A., Lu,T., Müller-Quernheim,J., Wittig,M., Hermann,A., Balschun,T., Hofmann,S., Niemiec,R., Schulz,S., Hampe,J., Nikolaus,S., Nürnberg,P., Krawczak,M., Schürmann,M., Rosenstiel,P., Nebel,A., and Schreiber,S. (2008). Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2. Gastroenterology. 135, 1207-1215.

Frommolt,P., Thomas,R.K., and Thomas,R.K. (2008). Standardized high-throughput evaluation of cell-based compound screens. BMC Bioinformatics. 9, 475.

Fürst,R., Bubik,M.F., Bihari,P., Mayer,B.A., Khandoga,A.G., Hoffmann,F., Rehberg,M., Krombach,F., Zahler,S., and Vollmar,A.M. (2008). Atrial natriuretic peptide protects against histamine-induced endothelial barrier dysfunction in vivo. Mol Pharmacol. 74, 1-8.

Fürst,R., Zahler,S., and Vollmar,A.M. (2008). Dexamethasone-induced expression of endothelial mitogen-activated protein kinase phosphatase-1 involves activation of the transcription factors activator protein-1 and 3',5'-cyclic adenosine 5'-monophosphate response element-binding protein and the genera. Endocrinology. 149, 3635-3642.

Geier,C., Gehmlich,K., Ehler,E., Hassfeld,S., Perrot,A., Hayess,K., Cardim,N., Wenzel,K., Erdmann,B., Krackhardt,F., Posch,M.G., Osterziel,K.J., Bublak,A., Naegele,H., Scheffold,T., Dietz,R., Chien,K.R., Spuler,S., Furst,D.O., Nurnberg,P., and Ozcelik,C. (2008). Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy (vol 17, pg 2753, 2008). Hum Mol Genet. 17, 3436.

Geier,C., Gehmlich,K., Ehler,E., Hassfeld,S., Perrot,A., Hayess,K., Cardim,N., Wenzel,K., Erdmann,B., Krackhardt,F., Posch,M.G., Osterziel,K.J., Bublak,A., Nägele,H., Scheffold,T., Dietz,R., Chien,K.R., Spuler,S., Fürst,D.O., Nürnberg,P., and Ozcelik,C. (2008). Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet. 17, 2753-2765.

Haenssle,H.A., Finkenrath,A., Hausser,I., Oji,V., Traupe,H., Hennies,H.C., Neumann,C., and Emmert,S. (2008). Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis. Clin Exp Dermatol. 33, 578-581.

Hennies,H.C., Kornak,U., Zhang,H., Egerer,J., Zhang,X., Seifert,W., Kühnisch,J., Budde,B., Nätebus,M., Brancati,F., Wilcox,W.R., Müller,D., Kaplan,P.B., Rajab,A., Zampino,G., Fodale,V., Dallapiccola,B., Newman,W., Metcalfe,K., Clayton-Smith,J., Tassabehji,M., Steinmann,B., Barr,F.A., Nürnberg,P., Nürnberg,P., Nürnberg,P., Wieacker,P., and Mundlos,S. (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet. 40, 1410-1412.

Hennies,H.C., Kurtenbach,J., Natebus,M., de Juane,S., Traupe,H., Preil,M.L., Kieg,P., Sprecher,E., and Eckl,K.M. (2008). Inactivating mutations in autosomal recessive congenital ichthyosis: extended allelic heterogeneity for mutations in ALOX12B and recurrent mutations in ALOXE3. J Invest Dermatol. 128 Suppl., 758.

Hiernaut,J.P., Wiss,T., Colle,J.Y., Thiele,H., Walker,C.T., Goll,W., and Konings,R.J.M. (2008). Fission product release and microstructure changes during laboratory annealing of a very high burn-up fuel specimen. J NUCL MATER. 377, 313-324.

Hillmer,A.M., Flaquer,A., Hanneken,S., Eigelshoven,S., Kortüm,A.K., Brockschmidt,F.F., Golla,A., Metzen,C., Thiele,H., Kolberg,S., Reinartz,R., Betz,R.C., Ruzicka,T., Hennies,H.C., Hennies,H.C., Kruse,R., and Nöthen,M.M. (2008). Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26. Am J Hum Genet. 82, 737-743.

Huyghe,J.R., Van Laer,L., Hendrickx,J.J., Fransen,E., Demeester,K., Topsakal,V., Kunst,S., Manninen,M., Jensen,M., Bonaconsa,A., Mazzoli,M., Baur,M., Hannula,S., Mäki-Torkko,E., Espeso,A., Van Eyken,E., Flaquer,A., Becker,C., Stephens,D., Sorri,M., Orzan,E., Bille,M., Parving,A., Pyykkö,I., Cremers,C.W., Kremer,H., Van de Heyning,P.H., Wienker,T.F., Nürnberg,P., Nürnberg,P., Pfister,M., and Van Camp,G. (2008). Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait. Am J Hum Genet. 83, 401-407.

Janke,D., Mehralivand,S., Strand,D., Gödtel-Armbrust,U., Habermeier,A., Gradhand,U., Fischer,C., Toliat,M.R., Fritz,P., Zanger,U.M., Schwab,M., Fromm,M.F., Nürnberg,P., Wojnowski,L., Closs,E.I., and Lang,T. (2008). 6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4. Hum Mutat. 29, 659-669.

Kayser,M., Lao,O., Saar,K., Brauer,S., Wang,X., Nürnberg,P., Trent,R.J., and Stoneking,M. (2008). Genome-wide analysis indicates more Asian than Melanesian ancestry of Polynesians. Am J Hum Genet. 82, 194-198.

Kloeckener-Gruissem,B., Vandekerckhove,K., Nürnberg,G., Neidhardt,J., Zeitz,C., Nürnberg,P., Schipper,I., and Berger,W. (2008). Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet. 82, 772-779.

Kocher,M., Frommolt,P., Frommolt,P., Borberg,S.K., Rühl,U., Steingräber,M., Niewald,M., Staar,S., Stuschke,M., Becker,G., Fischedick,A.R., Herfarth,K., Grauthoff,H., and Müller,R.P. (2008). Randomized Study of Postoperative Radiotherapy and Simultaneous Temozolomide without Adjuvant Chemotherapy for Glioblastoma. Strahlenther Onkol. 184, 572-579.

Kornak,U., Reynders,E., Dimopoulou,A., van Reeuwijk,J., Fischer,B., Rajab,A., Budde,B., Nürnberg,P., Foulquier,F., ARCL Debré-type Study Group, Lefeber,D., Urban,Z., Gruenewald,S., Annaert,W., Brunner,H.G., van Bokhoven,H., Wevers,R., Morava,E., Matthijs,G., Van Maldergem,L., and Mundlos,S. (2008). Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 40, 32-34.

Kuhl,A., Melberg,A., Meinl,E., Nürnberg,G., Nürnberg,P., Kehrer-Sawatzki,H., and Jenne,D.E. (2008). Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet. 16, 367-373.

Lang,U.E., Bajbouj,M., Sander,T., and Gallinat,J. (2008). Gender-dependent association of the functional catechol-o-methyltransferase Val158Met genotype with sensation seeking personality trait (vol 32, pg 1950, 2007). Neuropsychopharmacology. 33, 1216.

Lang,U.E., Hellweg,R., Bajbouj,M., Gaus,V., Sander,T., and Gallinat,J. (2008). Gender-dependent association of a functional NGF polymorphism with anxiety-related personality traits. Pharmacopsychiatry. 41, 196-199.

Lao,O., Lu,T.T., Nothnagel,M., Junge,O., Freitag-Wolf,S., Caliebe,A., Balascakova,M., Bertranpetit,J., Bindoff,L.A., Comas,D., Holmlund,G., Kouvatsi,A., Macek,M., Mollet,I., Parson,W., Palo,J., Ploski,R., Sajantila,A., Tagliabracci,A., Gether,U., Werge,T., Rivadeneira,F., Hofman,A., Uitterlinden,A.G., Gieger,C., Wichmann,H.E., Rüther,A., Schreiber,S., Becker,C., Nürnberg,P., Nelson,M.R., Krawczak,M., and Kayser,M. (2008). Correlation between genetic and geographic structure in Europe. Curr Biol. 18, 1241-1248.

Lembcke,A., Thiele,H., Lachnitt,A., Enzweiler,C.N., Wagner,M., Hein,P.A., Eddicks,S., and Kivelitz,D.E. (2008). Precision of forty slice spiral computed tomography for quantifying aortic valve stenosis: comparison with echocardiography and validation against cardiac catheterization. Invest Radiol. 43, 719-728.

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

Lugassy,J., Hennies,H.C., Indelman,M., Khamaysi,Z., Bergman,R., and Sprecher,E. (2008). Rapid detection of homozygous mutations in congenital recessive ichthyosis. Arch Dermatol Res. 300, 81-85.

Machner,B., Sprenger,A., Kompf,D., Sander,T., Heide,W., and Kimmig,H. (2008). Virtual model of homonymous hemianopia reveals visual search disorders in patients with unilateral occipital stroke. J Neurol. 255 Suppl., 747.

Machner,B., Neppert,B., Paulsen,M., Hofmann,C., Sander,T., and Helmchen,C. (2008). Pseudotumour cerebri as a reversible side-effect of all-trans retinoic acid treatment in acute promyelocytic leukaemia. J Neurol. 255 Suppl., 862.

Machner,B., Neppert,B., Paulsen,M., Hofmann,C., Sander,T., and Helmchen,C. (2008). Pseudotumor cerebri as a reversible side effect of all-trans retinoic acid treatment in acute promyelocytic leukaemia. Eur J Neurol. 15, e68-e69.

Mackert,B.M., Leistner,S., Sander,T., Liebert,A., Wabnitz,H., Burghoff,M., Trahms,L., Macdonald,R., and Curio,G. (2008). Dynamics of cortical neurovascular coupling analyzed by simultaneous DC-magnetoencephalography and time-resolved near-infrared spectroscopy. Neuroimage. 39, 979-986.

Märschenz,S., Brinckmann,A., Nürnberg,P., Krüger,D.H., Günther,S., and Meisel,H. (2008). Co-replication analyses of naturally occurring defective hepatitis B virus variants with wild-type. Virology. 372, 247-259.

Mezger,M., Steffens,M., Semmler,C., Arlt,E.M., Zimmer,M., Kristjanson,G.I., Wienker,T.F., Toliat,M.R., Kessler,T., Einsele,H., and Loeffler,J. (2008). Investigation of promoter variations in dendritic cell-specific ICAM3-grabbing non-integrin (DC-SIGN) (CD209) and their relevance for human cytomegalovirus reactivation and disease after allogeneic stem-cell transplantation. Clin Microbiol Infect. 14, 228-234.

Mezger,M., Steffens,M., Beyer,M., Manger,C., Eberle,J., Toliat,M.R., Wienker,T.F., Ljungman,P., Hebart,H., Dornbusch,H.J., Einsele,H., and Loeffler,J. (2008). Polymorphisms in the chemokine (C-X-C motif) ligand 10 are associated with invasive aspergillosis after allogeneic stem-cell transplantation and influence CXCL10 expression in monocyte-derived dendritic cells. Blood. 111, 534-536.

Mohr,C., Leyendecker,S., Mangels,I., Machner,B., Sander,T., and Helmchen,C. (2008). Central representation of cold-evoked pain relief in capsaicin induced pain: an event-related fMRI study. Pain. 139, 416-430.

Möller,I., Michel,K., Frech,N., Burger,M., Pfeifer,D., Frommolt,P., Veelken,H., and Thomas-Kaskel,A.K. (2008). Dendritic cell maturation with poly(I:C)-based versus PGE2-based cytokine combinations results in differential functional characteristics relevant to clinical application. J Immunother. 31, 506-519.

Muller,C., Schmidt,E., Traupe,H., Hansser,I., Hennies,H.C., Oji,V., Brocker,E.B., and Hamm,H. (2008). Severe transglutaminase-1-negative lamellar ichthyosis in a 9-year-old boy. J Invest Dermatol. 128, 3.

Müller-Ehmsen,J., Braun,D., Schneider,T., Pfister,R., Worm,N., Wielckens,K., Scheid,C., Frommolt,P., Frommolt,P., and Flesch,M. (2008). Decreased number of circulating progenitor cells in obesity: beneficial effects of weight reduction. Eur Heart J. 29, 1560-1568.

Nagel,I.E., Chicherio,C., Li,S.C., von Oertzen,T., Sander,T., Villringer,A., Heekeren,H.R., Bäckman,L., and Lindenberger,U. (2008). Human aging magnifies genetic effects on executive functioning and working memory. Front Hum Neurosci. 2, 1.

Neidhardt,J., Glaus,E., Lorenz,B., Netzer,C., Li,Y., Schambeck,M., Wittmer,M., Feil,S., Kirschner-Schwabe,R., Rosenberg,T., Cremers,F.P., Bergen,A.A., Barthelmes,D., Baraki,H., Schmid,F., Tanner,G., Fleischhauer,J., Orth,U., Becker,C., Wegscheider,E., Nürnberg,G., Nürnberg,P., Bolz,H.J., Gal,A., and Berger,W. (2008). Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis. 14, 1081-1093.

Neubauer,B.A., Waldegger,S., Heinzinger,J., Hahn,A., Kurlemann,G., Fiedler,B., Eberhard,F., Muhle,H., Stephani,U., Garkisch,S., Eeg-Olofsson,O., Müller,U., and Sander,T. (2008). KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology. 71, 177-183.

Noll,L., Peterson,F.C., Hayes,P.L., Volkman,B.F., and Sander,T. (2008). Heterodimer formation of the myeloid zinc finger 1 SCAN domain and association with promyelocytic leukemia nuclear bodies. Leuk Res. 32, 1582-1592.

Nürnberg,G., Jacobi,F.K., Broghammer,M., Becker,C., Blin,N., Nürnberg,P., Stephani,U., and Pusch,C.M. (2008). Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping. Int J Mol Med. 21, 429-438.

Opgen-Rhein,C., Neuhaus,A.H., Urbanek,C., Hahn,E., Sander,T., and Dettling,M. (2008). Executive attention in schizophrenic males and the impact of COMT Val108/158Met genotype on performance on the attention network test. Schizophr Bull. 34, 1231-1239.

Pasternack,S.M., von Kügelgen,I., Aboud,K.A., Lee,Y.A., Rüschendorf,F., Voss,K., Hillmer,A.M., Molderings,G.J., Franz,T., Ramirez,A., Nürnberg,P., Nöthen,M.M., and Betz,R.C. (2008). G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet. 40, 329-334.

Peterson,D.B., Sander,T., Kaul,S., Wakim,B.T., Halligan,B., Twigger,S., Pritchard,K.A., Oldham,K.T., and Ou,J.S. (2008). Comparative proteomic analysis of PAI-1 and TNF-alpha-derived endothelial microparticles. Proteomics. 8, 2430-2446.

Puk,O., Löster,J., Dalke,C., Soewarto,D., Fuchs,H., Budde,B., Nürnberg,P., Wolf,E., de Angelis,M.H., and Graw,J. (2008). Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype. Invest Ophthalmol Vis Sci. 49, 1525-1532.

Qureischie,H., Heun,R., Lütjohann,D., Popp,J., Jessen,F., Ledschbor-Frahnert,C., Thiele,H., Maier,W., Hentschel,F., Kelemen,P., and Kölsch,H. (2008). CETP polymorphisms influence cholesterol metabolism but not Alzheimer's disease risk. Brain Res. 1232, 1-6.

Racz,I., Schürmann,B., Karpushova,A., Reuter,M., Cichon,S., Montag,C., Fürst,R., Schütz,C., Franke,P.E., Strohmaier,J., Wienker,T.F., Terenius,L., Osby,U., Gunnar,A., Maier,W., Bilkei-Gorzó,A., Nöthen,M., and Zimmer,A. (2008). The opioid peptides enkephalin and beta-endorphin in alcohol dependence. Biol Psychiatry. 64, 989-997.

Rajab,A., Kornak,U., Budde,B.S., Hoffmann,K., Jaeken,J., Nürnberg,P., and Mundlos,S. (2008). Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. Am J Med Genet A. 146A, 965-976.

Rutsch,F., Crisponi,L., Meloni,A., Toliat,M.R., Nurnberg,G., Hohne,W., Nurnberg,P., and Crisponi,G. (2008). Mutations in CRLF1 cause Crisponi syndrome and cold-induced sweating. Eur J Pediatr. 167, 373.

Sander,T., Sprenger,A., Machner,B., Rambold,H., and Helmchen,C. (2008). Disjunctive saccades during smooth pursuit eye movements in ocular myasthenia gravis. J Neurol. 255, 1094-1096.

Sanggaard,K.M., Kjaer,K.W., Eiberg,H., Nürnberg,G., Nürnberg,P., Hoffman,K., Jensen,H., Sørum,C., Rendtorff,N.D., and Tranebjaerg,L. (2008). A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. Am J Med Genet A. 146A, 1017-1025.

Sauermann,U., Stahl-Hennig,C., Altmuller,J., Nurnberg,P., Fritzer,E., Krawczak,M., Siddiqui,R., and Platzer,M. (2008). Chromosomal regions determine disease progression in simian immunodeficiency virus (SIV)-infected rhesus macaques: results from a genome wide screening study. Tissue Antigens. 71, O28.

Sauermann,U., Siddiqui,R., Suh,Y.S., Platzer,M., Leuchte,N., Meyer,H., Mätz-Rensing,K., Stoiber,H., Nürnberg,P., Hunsmann,G., Stahl-Hennig,C., and Krawczak,M. (2008). Mhc class I haplotypes associated with survival time in simian immunodeficiency virus (SIV)-infected rhesus macaques. Genes Immun. 9, 69-80.

Schmack,K., Schlagenhauf,F., Sterzer,P., Wrase,J., Beck,A., Dembler,T., Kalus,P., Puls,I., Sander,T., Heinz,A., and Gallinat,J. (2008). Catechol-O-methyltransferase val158met genotype influences neural processing of reward anticipation. Neuroimage. 42, 1631-1638.

Stuhrmann,M., Hennies,H.C., Bukhari,I.A., Brakensiek,K., Nürnberg,G., Nürnberg,G., Becker,C., Huebener,J., Miranda,M.C., Frye-Boukhriss,H., Knothe,S., Schmidtke,J., and El-Harith,E.H. (2008). Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. Clin Genet. 73, 566-572.

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

Thiele,H., Schindler,K., Friedenberger,J., Eitel,I., Fürnau,G., Grebe,E., Erbs,S., Linke,A., Möbius-Winkler,S., Kivelitz,D., and Schuler,G. (2008). Intracoronary compared with intravenous bolus abciximab application in patients with ST-elevation myocardial infarction undergoing primary percutaneous coronary intervention: the randomized Leipzig immediate percutaneous coronary intervention abciximab IV. Circulation. 118, 49-57.

Tossios,P., Krausgrill,B., Schmidt,M., Fischer,T., Halbach,M., Fries,J.W., Fahnenstich,S., Frommolt,P., Frommolt,P., Heppelmann,I., Schmidt,A., Schomäcker,K., Fischer,J.H., Bloch,W., Mehlhorn,U., Schwinger,R.H., and Müller-Ehmsen,J. (2008). Role of balloon occlusion for mononuclear bone marrow cell deposition after intracoronary injection in pigs with reperfused myocardial infarction. Eur Heart J. 29, 1911-1921.

von Korff,M., Freyss,J., and Sander,T. (2008). Flexophore, a new versatile 3D pharmacophore descriptor that considers molecular flexibility. J Chem Inf Model. 48, 797-810.

Vormfelde,S.V., Toliat,M.R., Schirmer,M., Meineke,I., Nürnberg,P., and Brockmöller,J. (2008). The polymorphisms Asn130Asp and Val174Ala in OATP1B1 and the CYP2C9 allele *3 independently affect torsemide pharmacokinetics and pharmacodynamics. Clin Pharmacol Ther. 83, 815-817.

Widdig,A., Alberts,S.C., Nuernberg,P., and Krawzcak,M. (2008). Do mothers promote social preference among their paternally related offspring? Testing mechanisms of paternal kin discrimination. Folia Primatol (Basel). 79, 398.

 

2007

Alef,T., Hennies,H.C., Kolberg,S., Torres,S., Hausser,I., Metze,D., Tursen,U., and Lestringant,G.G. (2007). Syndrome of ichthyosis, follicular atrophoderma, and hypotrichosis is associated with loss-of-function mutations in matriptase. J Invest Dermatol. 127 Suppl., S78.

Attanasio,M., Uhlenhaut,N.H., Sousa,V.H., O'Toole,J.F., Otto,E., Anlag,K., Klugmann,C., Treier,A.C., Helou,J., Sayer,J.A., Seelow,D., Nürnberg,G., Becker,C., Chudley,A.E., Nürnberg,P., Hildebrandt,F., and Treier,M. (2007). Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet. 39, 1018-1024.

Aufenvenne,K., Oji,V., Walker,T., Hennies,H.C., Seller,N., Bruckner,P., and Traupe,H. (2007). TGM1 mutations in bathing suit ichthyosis: A functional understanding. J Invest Dermatol. 127 Suppl., S81.

Brinckmann,A., Rüther,K., Williamson,K., Lorenz,B., Lucke,B., Nürnberg,P., Trijbels,F., Janssen,A., and Schuelke,M. (2007). De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease. J Mol Med. 85, 163-168.

Brinckmann,A., Mischung,C., Bässmann,I., Kühnisch,J., Schuelke,M., Tinschert,S., and Nürnberg,P. (2007). Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing. Electrophoresis. 28, 4295-4301.

Bruck,H., Schwerdtfeger,T., Toliat,M., Leineweber,K., Heusch,G., Philipp,T., Nürnberg,P., and Brodde,O.E. (2007). Presynaptic alpha-2C adrenoceptor-mediated control of noradrenaline release in humans: genotype- or age-dependent? Clin Pharmacol Ther. 82, 525-530.

Buch,S., Schafmayer,C., Völzke,H., Becker,C., Franke,A., von Eller-Eberstein,H., Kluck,C., Bässmann,I., Brosch,M., Lammert,F., Miquel,J.F., Nervi,F., Wittig,M., Rosskopf,D., Timm,B., Höll,C., Seeger,M., ElSharawy,A., Lu,T., Egberts,J., Fändrich,F., Fölsch,U.R., Krawczak,M., Schreiber,S., Nürnberg,P., Tepel,J., and Hampe,J. (2007). A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. Nat Genet. 39, 995-999.

Budde,B.S., Binner,P., Waldmüller,S., Höhne,W., Blankenfeldt,W., Hassfeld,S., Brömsen,J., Dermintzoglou,A., Wieczorek,M., May,E., Kirst,E., Selignow,C., Rackebrandt,K., Müller,M., Goody,R.S., Vosberg,H.P., Nürnberg,P., and Scheffold,T. (2007). Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the beta-Myosin Heavy Chain Gene. PLoS ONE. 2, e1362.

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

Cirak,S., Deimling,F.V., Hermann,R., Bonnemann,C., Prive,G., Nurnberg,P., and Voit,T. (2007). Ubiquitin-proteasome pathway alteration in distal myopathy due to a mutation in a novel kelch protein. Eur J Pediatr. 166, 290.

Crisponi,L., Crisponi,G., Meloni,A., Toliat,M.R., Nurnberg,G., Usala,G., Uda,M., Masala,M., Hohne,W., Becker,C., Marongiu,M., Chiappe,F., Kleta,R., Rauch,A., Wollnik,B., Wollnik,B., Strasser,F., Reese,T., Jakobs,C., Kurlemann,G., Cao,A., Nurnberg,P., and Rutsch,F. (2007). Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet. 80, 971-981.

Debrah,A.Y., Mand,S., Toliat,M.R., Marfo-Debrekyei,Y., Batsa,L., Nürnberg,P., Lawson,B., Adjei,O., Hoerauf,A., and Pfarr,K. (2007). Plasma vascular endothelial growth Factor-A (VEGF-A) and VEGF-A gene polymorphism are associated with hydrocele development in lymphatic filariasis. Am J Trop Med Hyg. 77, 601-608.

Debrah,A.Y., Mand,S., Toliat,M.R., Marfo-Debrekyei,Y., Batsa,L., Nuernberg,P., Lawson,B., Adjei,O., Hoerauf,A., and Pfarr,K. (2007). Targeting endosymbiotic Wolbachia in Wuchereria bancrofti reduces plasma VEGF-A and improves condition of hydrocele patients. Am J Trop Med Hyg. 77 Suppl., 112.

Deffke,I., Sander,T., Heidenreich,J., Sommer,W., Curio,G., Trahms,L., and Lueschow,A. (2007). MEG/EEG sources of the 170-ms response to faces are co-localized in the fusiform gyrus. Neuroimage. 35, 1495-1501.

Dempfle,A., Wudy,S.A., Saar,K., Hagemann,S., Friedel,S., Scherag,A., Berthold,L.D., Alzen,G., Gortner,L., Blum,W.F., Hinney,A., Nurnberg,P., Schafer,H., and Hebebrand,J. (2007). Linkage genome scan and subsequent association studies show involvement of the vitamin D receptor gene in idiopathic short stature. Genet Epidemiol. 31, 469.

Detjen,A.K., Tinschert,S., Kaufmann,D., Algermissen,B., Nürnberg,P., and Schuelke,M. (2007). Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1. Twin Res Hum Genet. 10, 486-495.

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

Ebermann,I., Walger,M., Scholl,H.P., Charbel Issa,P., Lüke,C., Nürnberg,G., Lang-Roth,R., Becker,C., Nürnberg,P., and Bolz,H.J. (2007). Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction. Hum Mutat. 28, 571-577.

Eckl,K.M., Torres,S., Juanes,S., Metze,D., Krieg,P., and Hennies,H.C. (2007). Functional model systems for congenital ichthyosis: Basic and long way to therapy. J Invest Dermatol. 127 Suppl., S79.

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

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

Fagerlund,A., Brillard,J., Fürst,R., Guinebretière,M.H., and Granum,P.E. (2007). Toxin production in a rare and genetically remote cluster of strains of the Bacillus cereus group. BMC Microbiol. 7, 43.

Fehr,C., Sander,T., Hohmann,N., Tadic,A., Dahmen,N., Lieb,K., Lenzen,K., Zill,P., Soyka,M., and Preuss,U. (2007). Synaptosomal gene as candidate gene of the alcohol addiction and alcoholism-acceptor phenotype. Nervenarzt. 78 Suppl., 163.

Fürstenberger,G., Epp,N., Eckl,K.M., Hennies,H.C., Jørgensen,C., Hallenborg,P., Kristiansen,K., and Krieg,P. (2007). Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation. Prostaglandins Other Lipid Mediat. 82, 128-134.

Gallinat,J., Götz,T., Kalus,P., Bajbouj,M., Sander,T., and Winterer,G. (2007). Genetic variations of the NR3A subunit of the NMDA receptor modulate prefrontal cerebral activity in humans. J Cogn Neurosci. 19, 59-68.

Gallinat,J., Sander,T., and Lang,U. (2007). Genetical principles of dysfunctional cerebral activation for smoking. Nervenarzt. 78 Suppl., 313.

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

Hoffmann,K., Mattheisen,M., Dahm,S., Nürnberg,P., Roe,C., Johnson,J., Cox,N.J., Wichmann,H.E., Wienker,T.F., Schulze,J., Schwarz,P.E., and Lindner,T.H. (2007). A German genome-wide linkage scan for type 2 diabetes supports the existence of a metabolic syndrome locus on chromosome 1p36.13 and a type 2 diabetes locus on chromosome 16p12.2. Diabetologia. 50, 1418-1422.

Hoyer,J., Dreweke,A., Becker,C., Göhring,I., Thiel,C.T., Peippo,M.M., Rauch,R., Hofbeck,M., Trautmann,U., Zweier,C., Zenker,M., Hüffmeier,U., Kraus,C., Ekici,A.B., Rüschendorf,F., Nürnberg,P., Reis,A., and Rauch,A. (2007). Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet. 44, 629-636.

Ioana Braicu,E., Mustea,A., Toliat,M.R., Pirvulescu,C., Könsgen,D., Sun,P., Nürnberg,P., Lichtenegger,W., and Sehouli,J. (2007). Polymorphism of IL-1alpha, IL-1beta and IL-10 in patients with advanced ovarian cancer: results of a prospective study with 147 patients. Gynecol Oncol. 104, 680-685.

Jenkins,D., Seelow,D., Jehee,F.S., Perlyn,C.A., Alonso,L.G., Bueno,D.F., Donnai,D., Josifova,D., Josifiova,D., Mathijssen,I.M., Morton,J.E., Orstavik,K.H., Sweeney,E., Wall,S.A., Marsh,J.L., Nurnberg,P., Passos-Bueno,M.R., and Wilkie,A.O. (2007). RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet. 80, 1162-1170.

Kalay,E., Uzumcu,A., Krieger,E., Caylan,R., Uyguner,O., Ulubil-Emiroglu,M., Erdol,H., Kayserili,H., Baserer,N., Heister,A.J.G.M., Hennies,H.C., Nurnberg,P., Basaran,S., Brunner,H.G., Cremers,C.W.R.J., Karaguzel,A., Wollnik,B., Wollnik,B., and Kremer,H. (2007). MY015A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 143A, 2382-2389.

Kalay,E., Uzumcu,A., Krieger,E., Caylan,R., Uyguner,O., Ulubil-Emiroglu,M., Erdol,H., Kayserili,H., Hafiz,G., erer,N., Heister,A.J., Hennies,H.C., Nürnberg,P., aran,S., Brunner,H.G., Cremers,C.W., Karaguzel,A., Wollnik,B., and Kremer,H. (2007). MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation. Am J Med Genet A. 143, 2382-2389.

Knöll,R., Postel,R., Wang,J., Krätzner,R., Hennecke,G., Vacaru,A.M., Vakeel,P., Schubert,C., Murthy,K., Rana,B.K., Kube,D., Knöll,G., Schäfer,K., Hayashi,T., Holm,T., Kimura,A., Schork,N., Toliat,M.R., Nürnberg,P., Schultheiss,H.P., Schaper,W., Schaper,J., Bos,E., Den Hertog,J., van Eeden,F.J., Peters,P.J., Hasenfuss,G., Chien,K.R., and Bakkers,J. (2007). Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. Circulation. 116, 515-525.

Kuhnisch,J., Lobner,J., Stumpp,S., Epari,D., Giehl,M., Thiele,H., Felsenberg,D., Nurnberg,P., Mundlos,S., and Kornak,U. (2007). Reduced plasma membrane access of ANK causes craniometaphyseal dysplasia. Calcif Tissue Int. 80 Suppl., S80.

Lang,T., Janke,D., Mehralivand,S., Shamsinejad,M., Strand,D., Godtel-Armbrust,U., Habermeier,A., Gradhand,U., Fischer,C., Toliat,M.R., Fritz,P., Zanger,U.M., Schwab,M., Fromm,M.F., Nurnberg,P., Closs,E.I., and Wojnowski,L. (2007). Missense mutations in the multidrug resistance-associated protein 2 (MRP2/ABCC2) and 4 (MRP4/ABCC4): impact on protein expression and drug tansport. Basic Clin Pharmacol Toxicol. 101, 377.

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

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

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

Leistner,S., Scheer,H.J., Sander,T., Burghoff,M., Trahms,L., Curio,G., and Mackert,B.M. (2007). Recording of focal direct current (DC) changes in the human cerebral cortex using refined non-invasive DC-EEG methodology. Biomed Tech (Berl). 52, 102-105.

Leistner,S., Sander,T., Burghoff,M., Curio,G., Trahms,L., and Mackert,B.M. (2007). Combined MEG and EEG methodology for non-invasive recording of infraslow activity in the human cortex. Clin Neurophysiol. 118, 2774-2780.

Lorenz,S., Heils,A., Kasper,J.M., and Sander,T. (2007). Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy. Am J Med Genet B Neuropsychiatr Genet. 144, 10-13.

Merkl,A., Sander,T., Aust,S., Ropke,S., Reinecker,H., Trahms,L., and Heuser,I. (2007). Time course of perception in facial expression of emotion in borderline personality disorder (BPD): A magnetoncephalographic (MEG) study. Biol Psychiatry. 61 Suppl., 153S.

Muller,C., Schmidt,E., Traupe,H., Hausser,I., Hennies,H.C., Oji,V., Brocker,E.B., and Hamm,H. (2007). Distinct transglutaminase-1-negative lamellar ichthyosis in a 9-year-old boy. Klin Padiatr. 219, 120.

Myles,S., Hradetzky,E., Engelken,J., Lao,O., Nürnberg,P., Trent,R.J., Wang,X., Kayser,M., and Stoneking,M. (2007). Identification of a candidate genetic variant for the high prevalence of type II diabetes in Polynesians. Eur J Hum Genet. 15, 584-589.

Nenci,A., Becker,C., Wullaert,A., Gareus,R., van Loo,G., Danese,S., Huth,M., Nikolaev,A., Neufert,C., Madison,B., Gumucio,D., Neurath,M.F., and Pasparakis,M. (2007). Epithelial NEMO links innate immunity to chronic intestinal inflammation. Nature. 446, 557-561.

Neubauer,B., Waldegger,S., Hahn,A., Eberhardt,F., Kurlemann,G., Garkisch,S., Muller,U., Stephani,U., and Sander,T. (2007). KCNQ3 and KCNQ2 mutations contribute to rare and common forms of idiopathic epilepsy. Epilepsia. 48 Suppl., 7.

Nothnagel,M., Wollstein,A., and Krawczak,M. (2007). Comparative assessment of the association information captured by SNP tagging. Hum Hered. 64, 27-34.

Pasutto,F., Sticht,H., Hammersen,G., Gillessen-Kaesbach,G., Fitzpatrick,D.R., Nürnberg,G., Brasch,F., Schirmer-Zimmermann,H., Tolmie,J.L., Chitayat,D., Houge,G., Fernández-Martínez,L., Keating,S., Mortier,G., Hennekam,R.C., von der Wense,A., Slavotinek,A., Meinecke,P., Bitoun,P., Becker,C., Nürnberg,P., Reis,A., and Rauch,A. (2007). Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet. 80, 550-560.

Ruf,N., Bähring,S., Galetzka,D., Pliushch,G., Luft,F.C., Nürnberg,P., Haaf,T., Kelsey,G., and Zechner,U. (2007). Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human. Hum Mol Genet. 16, 2591-2599.

Rutsch,F., Gailus,S., Marquardt,T., Fowler,B., Nurnberg,P., and Rosenblatt,D.S. (2007). Genome wide linkage for cobalamin F disease. J Inherit Metab Dis. 30 Suppl., 134.

Rutsch,F., Crisponi,L., Meloni,A., Toliat,M.R., Nurnberg,G., Usala,G., Uda,M., Masala,M., Hohne,W., Becker,C., Marangiu,M., Chiappe,F., Kleta,R., Rauch,A., Wollnik,B., Strasser,F., Reese,T., Jakobs,C., Kurlemann,G., Cao,A., Nurenberg,P., and Crisponi,G. (2007). Crisponi syndrome and cold-induced sweating syndrome type 1: Two faces of the same coin. J Inherit Metab Dis. 30 Suppl., 142.

Schirmer,M., Rosenberger,A., Klein,K., Kulle,B., Toliat,M.R., Nürnberg,P., Zanger,U.M., and Wojnowski,L. (2007). Sex-dependent genetic markers of CYP3A4 expression and activity in human liver microsomes. Pharmacogenomics. 8, 443-453.

Schmack,K., Schlagenhauf,F., Wrase,J., Puls,I., Sander,T., Gallinat,J., and Heinz,A. (2007). Effect of genotypes of the NR3A-subunit of the NMDA-receptors on the volume of the prefrontal cortex for schizophrenic patients and health controls. Nervenarzt. 78 Suppl., 298.

Seifert,W. (2007). Are pharma pipelines sustainable? A prediction of future pharma output. Basic Clin Pharmacol Toxicol. 101, 388.

Timmann,C., Evans,J.A., Konig,I.R., Kleensang,A., Ruschendorf,F., Lenzen,J., Sievertsen,J., Becker,C., Enuameh,Y., Kwakye,K.O., Opoku,E., Browne,E.N.L., Ziegler,A., Nurnberg,P., and Horstmann,R.D. (2007). Genome-wide linkage analysis of malaria infection intensity and mild disease. PLoS Genet. 3, 393-400.

Timmann,C., Evans,J.A., König,I.R., Kleensang,A., Rüschendorf,F., Lenzen,J., Sievertsen,J., Becker,C., Enuameh,Y., Kwakye,K.O., Opoku,E., Browne,E.N., Ziegler,A., Nürnberg,P., and Horstmann,R.D. (2007). Genome-wide linkage analysis of malaria infection intensity and mild disease. PLoS Genet. 3, e48.

Uyguner,O., Kayserili,H., Li,Y., Karaman,B., Nürnberg,G., Hennies,H., Becker,C., Nürnberg,P., aran,S., Apak,M.Y., and Wollnik,B. (2007). A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. Clin Genet. 71, 212-219.

Voit,T., Cirak,S., Abraham,S., Karakesisoglou,I., Parano,E., Pavone,P., Falsaperia,R., Amthor,H., Schroeder,J., Muntoni,F., Guicheney,P., Nurnberg,P., Noegel,A., and Herrmann,R. (2007). Congenital muscular dystrophy with adducted thumbs, mental retardation, cerebellar hypoplasia and cataracts is caused by mutation of Enaptin (Nesprin-1): The third nuclear envelopathy with muscular dystrophy. Neuromuscul Disord. 17, 833-834.

Vormfelde,S.V., Sehrt,D., Toliat,M.R., Schirmer,M., Meineke,I., Tzvetkov,M., Nürnberg,P., and Brockmöller,J. (2007). Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs. Clin Pharmacol Ther. 82, 300-309.

Vormfelde,S.V., Schirmer,M., Toliat,M.R., Meineke,I., Kirchheiner,J., Nürnberg,P., and Brockmöller,J. (2007). Genetic variation at the CYP2C locus and its association with torsemide biotransformation. Pharmacogenomics J. 7, 200-211.

Vormfelde,S.V., Toliat,M.R., Schirmer,M., Meineke,I., Nurnberg,P., and Brockmoller,J. (2007). OATP1B1 polymorphisms and torsemide pharmacokinetics and pharmacodynamics. Basic Clin Pharmacol Toxicol. 101, 384.

Weber,S., Schaller,A., Waldegger,S., Gallati,S., Nurnberg,P., and Konrad,M. (2007). Mutations in CLDN19 are associated with renal magnesium wasting and severe ocular involvement. Eur J Pediatr. 166, 278.

Winterer,G., Musso,F., Konrad,A., Vucurevic,G., Stoeter,P., Sander,T., and Gallinat,J. (2007). Association of attentional network function with exon 5 variations of the CHRNA4 gene. Hum Mol Genet. 16, 2165-2174.

Wjst,M., Altmüller,J., Braig,C., Bahnweg,M., and André,E. (2007). A genome-wide linkage scan for 25-OH-D(3) and 1,25-(OH)2-D3 serum levels in asthma families. J Steroid Biochem Mol Biol. 103, 799-802.

Wollstein,A., Herrmann,A., Wittig,M., Nothnagel,M., Franke,A., Nürnberg,P., Schreiber,S., Krawczak,M., and Hampe,J. (2007). Efficacy assessment of SNP sets for genome-wide disease association studies. Nucleic Acids Res. 35, e113.

Zander,T., Furst,R., Franklin,J., Hampe,J., Numberg,P., Schreiber,S., Wolf,J., Diehl,V., Thomas,R.K., and Re,D. (2007). Analysis of genetic predisposition to hematotoxicity in Hodgkin Lymphoma patients. Haematologica Hematol J. 92 Suppl., 13.

Zweier,C., Peippo,M.M., Hoyer,J., Sousa,S., Bottani,A., Clayton-Smith,J., Reardon,W., Saraiva,J., Cabral,A., Gohring,I., Devriendt,K., de Ravel,T., Bijlsma,E.K., Hennekam,R.C., Orrico,A., Cohen,M., Dreweke,A., Reis,A., Nurnberg,P., and Rauch,A. (2007). Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet. 80, 994-1001.

 

2006

Aydin,A.; Toliat,M.R.; Bahring,S.; Becker,C.; Nurnberg,P. New universal primers facilitate Pyrosequencing. Electrophoresis 2006;27(2):394-397.

Bauerfeind,A.; Knoblauch,H.; Costanza,M.C.; Luganskaja,T.; Toliat,M.R.; Nurnberg,P.; Luft,F.C.; Reich,J.G.; Morabia,A. Concordant association of lipid gene variation with a combined HDL/LDL-cholesterol phenotype in two European populations. Hum Hered. 2006;61(3):123-131.

Brinckmann,A.; Ruther,K.; Williamson,K.; Lorenz,B.; Lucke,B.; Nurnberg,P.; Trijbels,F.; Janssen,A.; Schuelke,M. De novo double mutation in PAX6 and mtDNA tRNA ( Lys ) associated with atypical aniridia and mitochondrial disease. J Mol Med. 2006.

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

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

ElSharawy,A.; Manaster,C.; Teuber,M.; Rosenstiel,P.; Kwiatkowski,R.; Huse,K.; Platzer,M.; Becker,A.; Nurnberg,P.; Schreiber,S.; Hampe,J. SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs. Hum Mutat. 2006;27(11):1129-1134.

Entz,P.; Blaumeiser,B.; Betz,R.C.; Lambert,J.; Seymons,K.; Eigelshoven,S.; Hanneken,S.; Kruse,R.; Nurnberg,P.; Nagy,M.; Nothen,M.M. Investigation of the HLA-DRB1 locus in alopecia areata. Eur J Dermatol. 2006;16(4):363-367.

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

Franke,A.; Wollstein,A.; Teuber,M.; Wittig,M.; Lu,T.; Hoffmann,K.; Nurnberg,P.; Krawczak,M.; Schreiber,S.; Hampe,J. GENOMIZER: an integrated analysis system for genome-wide association data. Hum Mutat. 2006;27(6):583-588.

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

Hannan F, Ho I, Tong JJ, Zhu Y, Nurnberg P, Zhong Y. Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. Hum Mol Genet. 2006;15(7):1087-1098.

Hasselbacher,K.; Wiggins,R.C.; Matejas,V.; Hinkes,B.G.; Mucha,B.; Hoskins,B.E.; Ozaltin,F.; Nurnberg,G.; Becker,C.; Hangan,D.; Pohl,M.; Kuwertz-Broking,E; Griebel,M.; Schumacher,V.; Royer-Pokora,B.; Bakkaloglu,A.; Nurnberg,P.; Zenker,M.; Hildebrandt,F. Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int. 2006;70(6):1008-1012.

Hebebrand,J.; Dempfle,A.; Saar,K.; Thiele,H.; Herpertz-Dahlmann,B.; Linder,M.; Kiefl,H.; Remschmidt,H.; Hemminger,U.; Warnke,A.; Knolker,U.; Heiser,P.; Friedel,S.; Hinney,A.; Schafer,H.; Nurnberg,P.; Konrad,K. A genome-wide scan for attention-deficit/hyperactivity disorder in 155 German sib-pairs. Mol Psychiatry. 2006;11(2):196-205.

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

Hempelmann,A., Kumar,S., Muralitharan,S., and Sander,T. (2006). Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia. Neurosci Lett. 402, 118-120.

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

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

Kalay,E.; Li,Y.; Uzumcu,A.; Uyguner,O.; Collin,R.W.; Caylan,R.; Ulubil-Emiroglu,M.; Kersten,F.F.; Hafiz,G.; van,Wijk E.; Kayserili,H.; Rohmann,E.; Wagenstaller,J.; Hoefsloot,L.H.; Strom,T.M.; Nurnberg,G.; Baserer,N.; den Hollander,A.I.; Cremers,F.P.; Cremers,C.W.; Becker,C.; Brunner,H.G.; Nurnberg,P.; Karaguzel,A. Basaran,S.; Kubisch,C.; Kremer,H.; Wollnik,B. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2006;27(7):633-639.

Kirchheiner,J., Lang,U., Stamm,T., Sander,T., and Gallinat,J. (2006). Association of CYP2D6 genotypes and personality traits in healthy individuals. J Clin Psychopharmacol. 26, 440-442.

Konrad,M.; Schaller,A.; Seelow,D.; Pandey,A.V.; Waldegger,S.; Lesslauer,A.; Vitzthum,H.; Suzuki,Y.; Luk,J.M.; Becker,C.; Schlingmann,K.P.; Schmid,M.; Rodriguez-Soriano,J.; Ariceta,G.; Cano,F.; Enriquez,R.; Juppner,H.; Bakkaloglu,S.A.; Hediger,M.A.; Gallati,S.; Neuhauss,S.C.; Nurnberg,P.; Weber,S. Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement. Am J Hum Genet. 2006;79(5):949-957.

Loeffler,J.; Steffens,M.; Arlt,E.M.; Toliat,M.R.; Mezger,M.; Suk,A.; Wienker,T.F.; Hebart,H.; Nurnberg,P.; Boeckh,M.; Ljungman,P.; Trenschel,R.; Einsele,H. Polymorphisms in the genes encoding chemokine receptor 5, interleukin-10, and monocyte chemoattractant protein 1 contribute to cytomegalovirus reactivation and disease after allogeneic stem cell transplantation. J Clin Microbiol. 2006;44(5):1847-1850.

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

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

Lorenz,S., Taylor,K.P., Gehrmann,A., Becker,T., Muhle,H., Gresch,M., Tauer,U., Sander,T., and Stephani,U. (2006). Association of BRD2 polymorphisms with photoparoxysmal response. Neurosci Lett. 400, 135-139.

Marschenz,S.; Endres,A.S.; Brinckmann,A.; Heise,T.; Kristiansen,G.; Nurnberg,P.; Kruger,D.H.; Gunther,S.; Meisel,H. Functional analysis of complex hepatitis B virus variants associated with development of liver cirrhosis. Gastroenterology. 2006;131(3):765-780.

Rauch,A.; Hoyer,J.; Guth,S.; Zweier,C.; Kraus,C.; Becker,C.; Zenker,M.; Huffmeier,U.; Thiel,C.; Ruschendorf,F.; Nurnberg,P.; Reis,A.; Trautmann,U. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A. 2006;140(19):2063-2074.

Rohmann,E.; Brunner,H.G.; Kayserili,H.; Uyguner,O.; Nurnberg,G.; Lew,E.D.; Dobbie,A.; Eswarakumar,V.P.; Uzumcu,A.; Ulubil-Emeroglu,M.; Leroy,J.G.; Li,Y.; Becker,C.; Lehnerdt,K.; Cremers,C.W.; Yuksel-Apak,M.; Nurnberg,P.; Kubisch,C.; Schlessinger,J.; van,Bokhoven H.; Wollnik,B. Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 2006;38(4):414-417.

Ruf,N.; Dunzinger,U.; Brinckmann,A.; Haaf,T.; Nurnberg,P.; Zechner,U. Expression profiling of uniparental mouse embryos is inefficient in identifying novel imprinted genes. Genomics 2006;87(4):509-519.

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

Schirmer,M.; Toliat,M.R.; Haberl,M.; Suk,A.; Kamdem,L.K.; Klein,K.; Brockmoller,J.; Nurnberg,P.; Zanger,U.M.; Wojnowski,L. Genetic signature consistent with selection against the CYP3A4*1B allele in non-African populations. Pharmacogenet.Genomocs. 2006;16(1):59-71.

Steffens,M.; Lamina,C.; Illig,T.; Bettecken,T.; Vogler,R.; Entz,P.; Suk,E.K.; Toliat,M.R.; Klopp,N.; Caliebe,A.; Konig,I.R.; Kohler,K.; Ludemann,J.; Lacava,A.D.; Fimmers,R.; Lichtner,P.; Ziegler,A.; Wolf,A.; Krawczak,M.; Nurnberg,P.; Hampe,J.; Schreiber,S.; Meitinger,T.; Wichmann,H.E.; Roeder,K.; Wienker,T.F.; Baur,M.P. SNP-based analysis of genetic substructure in the German population. Hum Hered. 2006;62(1):20-29

Vanita,V.; Hennies,H.C.; Singh,D.; Nurnberg,P.; Sperling,K.; Singh,J.R. A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. Mol.Vis. 2006;12:1217-1222.

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

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

Vormfelde,S.V.; Schirmer,M.; Hagos,Y.; Toliat,M.R.; Engelhardt,S.; Meineke,I.; Burckhardt,G.; Nurnberg,P.; Brockmoller,J. Torsemide renal clearance and genetic variation in luminal and basolateral organic anion transporters. Br J Clin Pharmacol. 2006;62(3):323-335.

Vormfelde,S.V.; Schirmer,M.; Toliat,M.R.; Meineke,I.; Kirchheiner,J.; Nurnberg,P.; Brockmoller,J. Genetic variation at the CYP2C locus and its association with torsemide biotransformation. Pharmacogenomics J. 2006.

Widdig,A.; Nurnberg,P.; Bercovitch,F.B.; Trefilov,A.; Berard,J.B.; Kessler,M.J.; Schmidtke,J.; Streich,W.J.; Krawczak,M. Consequences of group fission for the patterns of relatedness among rhesus macaques. Mol Ecol. 2006;15(12):3825-3832.

Wycisk,K.A.; Budde,B.; Feil,S.; Skosyrski,S.; Buzzi,F.; Neidhardt,J.; Glaus,E.; Nurnberg,P.; Ruether,K.; Berger,W. Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Invest Ophthalmol Vis Sci. 2006;47(8):3523-3530.

Zheng,W.; Rosenstiel,P.; Huse,K.; Sina,C.; Valentonyte,R.; Mah,N.; Zeitlmann,L.; Grosse,J.; Ruf,N.; Nurnberg,P.; Costello,C.M.; Onnie,C.; Mathew,C.; Platzer,M.; Schreiber,S.; Hampe,J. Evaluation of AGR2 and AGR3 as candidate genes for inflammatory bowel disease. Genes Immun. 2006;7(1):11-18.

 

2005

Bertrand,D., Elmslie,F., Hughes,E., Trounce,J., Sander,T., Bertrand,S., and Steinlein,O.K. (2005). The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis. 20, 799-804.

Entz,P.; Toliat,M.R.; Hampe,J.; Valentonyte,R.; Jenisch,S.; Nurnberg,P.; Nagy,M. New strategies for efficient typing of HLA class-II loci DQB1 and DRB1 by using Pyrosequencing. Tissue Antigens. 2005;65(1):67-80.

Godde,R.; Rohde,K.; Becker,C.; Toliat,M.R.; Entz,P.; Suk,A.; Muller,N.; Sindern,E.; Haupts,M.; Schimrigk,S.; Nurnberg,P.; Epplen,J.T. Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chips. J Mol Med. 2005;83(6):486-494.

Graw,J.; Loster,J.; Puk,O.; Munster,D.; Haubst,N.; Soewarto,D.; Fuchs,H.; Meyer,B.; Nurnberg,P.; Pretsch,W.; Selby,P.; Favor,J.; Wolf,E.; Hrabe de Angelis, M. Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters. Invest Ophthalmol Vis Sci. 2005;46(12):4671-4683.

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

Jenne,D.E.; Kley,R.A.; Vorgerd,M.; Schroder,J.M.; Weis,J.; Reimann,H.; Albrecht,B.; Nurnberg,P.; Thiele,H.; Muller,C.R.; Meng,G.; Witt,C.C.; Labeit,S. Limb girdle muscular dystrophy in a sibling pair with a homozygous Ser606Leu mutation in the alternatively spliced IS2 region of calpain 3. Biol Chem. 2005;386(1):61-67.

Kulle,B.; Schirmer,M.; Toliat,M.R.; Suk,A.; Becker,C.; Tzvetkov,M.V.; Brockmoller,J.; Bickeboller,H.; Hasenfuss,G.; Nurnberg,P.; Wojnowski,L. Application of genomewide SNP arrays for detection of simulated susceptibility loci. Hum Mutat. 2005;25(6):557-565.

Kurz,T.; Altmueller,J.; Strauch,K.; Ruschendorf,F.; Heinzmann,A.; Moffatt,M.F.; Cookson,W.O.; Inacio,F.; Nurnberg,P.; Stassen,H.H.; Deichmann,K.A. A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3. Allergy. 2005;60(2):192-199.

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

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

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

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

Lohoff,F.W., Ferraro,T.N., Sander,T., Zhao,H., Dahl,J.P., Berrettini,W.H., and Buono,R.J. (2005). No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy. Neurosci Lett. 382, 33-38.

Lohoff,F.W., Sander,T., Ferraro,T.N., Dahl,J.P., Gallinat,J., and Berrettini,W.H. (2005). Confirmation of association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and bipolar I disorder. Am J Med Genet B Neuropsychiatr Genet. 139B, 51-53.

Malkin,I.; Dahm,S.; Suk,A.; Kobyliansky,E.; Toliat,M.; Ruf,N.; Livshits,G.; Nurnberg,P. Association of ANKH gene polymorphisms with radiographic hand bone size and geometry in a Chuvasha population. Bone. 2005;36(2):365-373.

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

Neubauer,B.A., Waltz,S., Grothe,M., Hahn,A., Tuxhorn,I., Sander,T., Kurlemann,G., and Stephani,U. (2005). Photosensitivity: genetics and clinical significance. Adv. Neurol. 95,217-226.

Reinhard C, Meyer B, Fuchs H, Stoeger,T.; Eder,G.; Ruschendorf,F.; Heyder,J.; Nurnberg,P.; de Angelis,M.H.; Schulz,H.

Ruschendorf F, Nurnberg P. ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics. 2005;21(9):2123-2125.

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

Schumacher,J.; Kaneva,R.; Jamra,R.A.; Diaz,G.O.; Ohlraun,S.; Milanova,V.; Lee,Y.A.; Rivas,F.; Mayoral,F.; Fuerst,R., Flaquer,A.; Windemuth,C.; Gay,E.; Sanz,S.; Gonzalez,M.J.; Gil,S.; Cabaleiro,F.; del,Rio F.; Perez,F.; Haro,J.; Kostov,C.; Chorbov,V. Nikolova-Hill,A.; Stoyanova,V.; Onchev,G.; Kremensky,I.; Strauch,K.; Schulze,T.G.; Nurnberg,P.; Gaebel,W.; Klimke,A.; Auburger,G.; Wienker,T.F.; Kalaydjieva,L.; Propping,P.; Cichon,S.; Jablensky,A.; Rietschel,M.; Nothen,M.M.Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24. Am J Hum Genet. 2005;77(6):1102-1111.

Straussberg R, Basel-Vanagaite L,, Kivity S Dabby,R.; Cirak,S.; Nurnberg,P.; Voit,T.; Mahajnah,M.; Inbar,D.; Saifi,G.M.; Lupski,J.R.; Delague,V.; Megarbane,A.; Richter,A.; Leshinsky,E.; Berkovic,S.F.An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures. Neurology. 2005;64(1):142-144.

Suk,E.K.; Malkin,I.; Dahm,S.; Kalichman,L.; Ruf,N.; Kobyliansky,E.; Toliat,M.; Rutsch,F.; Nurnberg,P.; Livshits,G. Association of ENPP1 gene polymorphisms with hand osteoarthritis in a Chuvasha population. Arthritis Res Ther. 2005;7(5):R1082-R1090.

Tadic,A., Dahmen,N., Szegedi,A., Rujescu,D., Giegling,I., Koller,G., Anghelescu,I., Fehr,C., Klawe,C., Preuss,U.W., Sander,T., Toliat,M.R., Singer,P., Bondy,B., and Soyka,M. (2005). Polymorphisms in the NMDA subunit 2B are not associated with alcohol dependence and alcohol withdrawal-induced seizures and delirium tremens. Eur Arch Psychiatry Clin Neurosci. 255, 129-135.

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

Tukel,T.; Uzumcu,A.; Gezer,A.; Kayserili,H.; Yuksel-Apak,M.; Uyguner,O.; Gultekin,S.H.; Hennies,H.C.; Nurnberg,P.; Desnick,R.J.; Wollnik,B. A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter. J Med Genet. 2005;42(5):408-415.

Tzvetkov MV, Becker C, Kulle B, Nurnberg P, Brockmoller J, Wojnowski L. Genome-wide single-nucleotide polymorphism arrays demonstrate high fidelity of multiple displacement-based whole-genome amplification. Electrophoresis. 2005;26(3):710-715.

Weber,S.; Mir,S.; Schlingmann,K.P.; Nurnberg,G.; Becker,C.; Kara,P.E.; Ozkayin,N.; Konrad,M.; Nurnberg,P.; Schaefer,F. Gene locus ambiguity in posterior urethral valves/prune-belly syndrome. Pediatr. Nephrol. 2005; 20(8): 1036-1042.

Wojnowski,L.; Kulle,B.; Schirmer,M.; Schluter,G.; Schmidt,A.; Rosenberger,A.; Vonhof,S.; Bickeboller,H.; Toliat,M.R.; Suk,E.K.; Tzvetkov,M.; Kruger,A.; Seifert,S.; Kloess,M.; Hahn,H.; Loeffler,M.; Nurnberg,P.; Pfreundschuh,M.; Trumper,L.; Brockmoller,J.; Hasenfuss,G. NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicity. Circulation 2005;112(24):3754-3762.

Wolf,M.T.; Zalewski,I.; Martin,F.C.; Ruf,R.; Muller,D.; Hennies,H.C.; Schwarz,S.; Panther,F.; Attanasio,M.; Acosta,H.G.; Imm,A.; Lucke,B.; Utsch,B.; Otto,E.; Nurnberg,P.; Nieto,V.G.; Hildebrandt,F. Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. Nephrol Dial Transplant. 2005;20(5):909-914.

zur,Stadt U.; Schmidt,S.; Kasper,B.; Beutel,K.; Diler,A.S.; Henter,J.I.; Kabisch,H.; Schneppenheim,R.; Nurnberg,P.; Janka,G.; Hennies,H.C. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 2005;14(6):827-834.