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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.


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.

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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.



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.



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.



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.