Publications 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.
Lal, D., Ruppert, A.K., Trucks, H., Schulz, H., de Kovel, C.G., Kasteleijn-Nolst Trenite, D., Sonsma, A.C., Koeleman, B.P., Lindhout, D., Weber, Y.G., Lerche, H., Kapser, C., Schankin, C.J., Kunz, W.S., Surges, R., Elger, C.E., Gaus, V., Schmitz, B., Helbig, I., Muhle, H., Stephani, U., Klein, K.M., Rosenow, F., Neubauer, B.A., Reinthaler, E.M., Zimprich, F., Feucht, M., Moller, R.S., Hjalgrim, H., De Jonghe, P., Suls, A., Lieb, W., Franke, A., Strauch, K., Gieger, C., Schurmann, C., Schminke, U., Nurnberg, P., and Sander, T. (2015). Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet 11, e1005226.
Lal, D., Steinbrucker, S., Schubert, J., Sander, T., Becker, F., Weber, Y., Lerche, H., Thiele, H., Krause, R., Lehesjoki, A.E., Nurnberg, P., Palotie, A., Neubauer, B.A., Muhle, H., Stephani, U., Helbig, I., Becker, A.J., Schoch, S., Hansen, J., Dorn, T., Hohl, C., Luscher, N., von Spiczak, S., and Lemke, J.R. (2015). Investigation of GRIN2A in common epilepsy phenotypes. Epilepsy Res 115, 95-99.
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.
Peifer, M., Hertwig, F., Roels, F., Dreidax, D., Gartlgruber, M., Menon, R., Kramer, A., Roncaioli, J.L., Sand, F., Heuckmann, J.M., Ikram, F., Schmidt, R., Ackermann, S., Engesser, A., Kahlert, Y., Vogel, W., Altmuller, J., Nurnberg, P., Thierry-Mieg, J., Thierry-Mieg, D., Mariappan, A., Heynck, S., Mariotti, E., Henrich, K.O., Gloeckner, C., Bosco, G., Leuschner, I., Schweiger, M.R., Savelyeva, L., Watkins, S.C., Shao, C., Bell, E., Hofer, T., Achter, V., Lang, U., Theissen, J., Volland, R., Saadati, M., Eggert, A., de Wilde, B., Berthold, F., Peng, Z., Zhao, C., Shi, L., Ortmann, M., Buttner, R., Perner, S., Hero, B., Schramm, A., Schulte, J.H., Herrmann, C., O'Sullivan, R.J., Westermann, F., Thomas, R.K., and Fischer, M. (2015). Telomerase activation by genomic rearrangements in high-risk neuroblastoma. Nature 526, 700-704.
Reichwagen, A., Ziepert, M., Kreuz, M., Godtel-Armbrust, U., Rixecker, T., Poeschel, V., Reza Toliat, M., Nurnberg, P., Tzvetkov, M., Deng, S., Trumper, L., Hasenfuss, G., Pfreundschuh, M., and Wojnowski, L. (2015). Association of NADPH oxidase polymorphisms with anthracycline-induced cardiotoxicity in the RICOVER-60 trial of patients with aggressive CD20(+) B-cell lymphoma. Pharmacogenomics 16, 361-372.
Reinthaler, E.M., Dejanovic, B., Lal, D., Semtner, M., Merkler, Y., Reinhold, A., Pittrich, D.A., Hotzy, C., Feucht, M., Steinbock, H., Gruber-Sedlmayr, U., Ronen, G.M., Neophytou, B., Geldner, J., Haberlandt, E., Muhle, H., Ikram, M.A., van Duijn, C.M., Uitterlinden, A.G., Hofman, A., Altmuller, J., Kawalia, A., Toliat, M.R., Nurnberg, P., Lerche, H., Nothnagel, M., Thiele, H., Sander, T., Meier, J.C., Schwarz, G., Neubauer, B.A., and Zimprich, F. (2015). Rare variants in gamma-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. Ann Neurol 77, 972-986.
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.