Journal Article (162)

41.
Journal Article
Ibn-Salem, J.; Köhler, S.; Love, M. I.; Chung, H.-R.; Huang, N.; Hurles, M. E.; Haendel, M.; Washington, N. L.; Smedley, D.; Mungall, C. J. et al.; Lewis, S. E.; Ott, C. E.; Bauer, S.; Schofield, P. N.; Mundlos, S.; Spielmann, M.; Robinson, P. N.: Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biology: Biology for the Post-Genomic Era 15, 15:423 (2014)
42.
Journal Article
Hooli , B. V.; Parrado, A. R.; Mullin , K.; Yip , W. K.; Liu , T.; Roehr , J.; Qiao , D.; Jessen , F.; Peters , O.; Becker , T. et al.; Ramirez , A.; Lange, C.; Bertram, L.; Tanzi, R. E.: The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk. Neurology 83 (15), pp. 1353 - 1358 (2014)
43.
Journal Article
Zemojtel, T.; Köhler, S.; Mackenroth, L.; Jäger, M.; Hecht, J.; Krawitz, P.; Graul-Neumann, L.; Doelken, S.; Ehmke, N.; Spielmann, M. et al.; Oien, N. C.; Schweiger, M. R.; Krüger, U.; Frommer, G.; Fischer, B.; Kornak, U.; Flöttmann, R.; Ardeshirdavani, A.; Moreau, Y.; Lewis, S. E.; Haendel, M.; Smedley, D.; Horn, D.; Mundlos, S.; Robinson, P. N.: Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Science Translational Madicine 6 (252), 252ra123 (2014)
44.
Journal Article
Carrell, D. T.; Rajpert-De Meyts, E.; Krausz, C.; Jannini, E. A.; Liu, P. Y.; Gerton, G. L.; La Salle, S.; Amaral, A.: The need of continuous focus on improved mentoring of trainees and young investigators in the field of andrology: highlights of current programs and opportunities for the future. Andrology 2 (5), pp. 649 - 651 (2014)
45.
Journal Article
Henderson, D.; Ogilvie, L. A.; Hoyle, N.; Keilholz, U.; Lange, B.; Lehrach, H.; OncoTrack, C.; Yaspo, M. L.: Personalized medicine approaches for colon cancer driven by genomics and systems biology: OncoTrack. Biotechnology Journal 9 (9), pp. 1104 - 1114 (2014)
46.
Journal Article
Krawitz, P. M.; Schiska, D.; Krüger, U.; Appelt, S.; Heinrich, V.; Parkhomchuk, D.; Timmermann, B.; Millan, J. M.; Robinson, P. N.; Mundlos, S. et al.; Hecht, J.; Gross, M.: Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. Molecular Genetics and Genomic Medicine 2 (5), pp. 393 - 401 (2014)
47.
Journal Article
Kühnisch, J.; Seto, J.; Lange, C.; Stumpp, S.; Kobus, K.; Grohmann, J.; Elefteriou, F.; Fratzl, P.; Mundlos, S.; Kolanczyk, M.: Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models. Bone 66, pp. 155 - 162 (2014)
48.
Journal Article
Misra, N.; Szczurek, E.; Vingron, M.: Inferring the paths of somatic evolution in cancer. Bioinformatics 30 (17), pp. 2456 - 2463 (2014)
49.
Journal Article
Nalls, M. A.; Pankratz, N.; Lill, C. M.; Do, C. B.; Hernandez, D. G.; Saad, M.; DeStefano, A. L.; Kara, E.; Bras, J.; Sharma, M. et al.; Schulte, C.; Keller, M. F.; Arepalli, S.; Letson, C.; Edsall, C.; Stefansson, H.; Liu, X.; Pliner, H.; Lee, J. H.; Cheng, R.; Ikram, M. A.; Ioannidis, J. P.A.; Hadjigeorgiou, G. M.; Bis, J. C.; Martinez, M.; Perlmutter, J. S.; Goate, A.; Marder, K.; Fiske, B.; Sutherland, M.; Xiromerisiou, G.; Myers, R. H.; Clark, L. N.; Stefansson, K.; Hardy, J. A.; Heutink, P.; Chen, H.; Wood, N. W.; Houlden, H.; Payami, H.; Brice, A.; Scott, W. K.; Gasser, T.; Bertram, L.; Eriksson, N.; Foroud, T.; Singleton, A. B.: Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease. Nature Genetics 46 (9), pp. 989 - 993 (2014)
50.
Journal Article
Jun, K. R.; Ullmann, R.; Khan, S.; Layman, L. C.; Kim, H.-G.: Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up. Molecular Cytogenetics 2014, 7:52 (2014)
51.
Journal Article
Luge, T.; Kube, M.; Freiwald, A.; Meierhofer, D.; Seemüller, E.; Sauer, S.: Transcriptomics assisted proteomic analysis of Nicotiana occidentalis infected by Candidatus Phytoplasma mali strain AT. Proteomics 14 (16), pp. 1882 - 1889 (2014)
52.
Journal Article
Riemer, P.; Sreekumar, A.; Reinke, S.; Rad, R.; Schäfer, R.; Sers, C.; Bläker, H.; Herrmann, B. G.; Morkel, M.: Transgenic expression of oncogenic BRAF induces loss of stem cells in the mouse intestine, which is antagonized by β-Catenin activity. Oncogene 2014, pp. 1 - 12 (2014)
53.
Journal Article
Sultan, M.; Amstislavskiy, V.; Risch, T.; Schütte, M.; Dökel, S.; Ralser, M.; Balzereit, D.; Lehrach, H.; Yaspo, M. L.: Influence of RNA extraction methods and library selection schemes on RNA-seq data. BMC Genomics 15, 15:675 (2014)
54.
Journal Article
Bhagavath, B.; Layman, L. C.; Ullmann, R.; Shen, Y.; Ha, K.; Rehman, K.; Looney, S.; McDonough, P. G.; Kim, H. G.; Carr, B. R.: Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene. Molecular and Cellular Endocrinology 393 (1-2), pp. 1 - 7 (2014)
55.
Journal Article
Fischer, B.; Callewaert, B.; Schroter, P.; Coucke, P. J.; Schlack, C.; Ott, C. E.; Morroni, M.; Homann, W.; Mundlos, S.; Morava, E. et al.; Ficcadenti, A.; Kornak, U.: Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Molecular Genetics and Metabolism 112 (4), pp. 310 - 316 (2014)
56.
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Huang, X.; Zi, Z.: Inferring cellular regulatory networks with Bayesian model averaging for linear regression (BMALR). Molecular BioSystems 10 (8), pp. 2023 - 2030 (2014)
57.
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Maatz, H.; Jens, M.; Liss, M.; Schafer, S.; Heinig, M.; Kirchner, M.; Adami, E.; Rintisch, C.; Dauksaite, V.; Radke, M. H. et al.; Selbach, M.; Barton, P. J.; Cook, S. A.; Rajewsky, N.; Gotthardt, M.; Landthaler, M.; Hubner, N.: RNA-binding protein RBM20 represses splicing to orchestrate cardiac pre-mRNA processing. The Journal of Clinical Investigation 124 (8), pp. 3419 - 3430 (2014)
58.
Journal Article
Rasche, A.; Lienhard, M.; Yaspo, M.-L.; Lehrach, H.; Herwig, R.: ARH-seq: identification of differential splicing in RNA-seq data. Nucleic Acids Research (London) 42 (14), e110 (2014)
59.
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Schwartz, B.; Marks, M.; Wittler, L.; Werber, M.; Währisch, S.; Nordheim, A.; Herrmann, B. G.; Grote, P.: SRF is essential for mesodermal cell migration during elongation of the embryonic body axis. Mechanisms of Development 133, pp. 23 - 35 (2014)
60.
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Seumois, G.; Chavez, L.; Gerasimova, A.; Lienhard, M.; Omran, N.; Kalinke, L.; Vedanayagam, M.; Ganesan, A. P. V.; Chawla, A.; Djukanović, R. et al.; Ansel, K. M.; Peters, B.; Rao, A.; Vijayanand, P.: Epigenomic analysis of primary human T cells reveals enhancers associated with TH2 memory cell differentiation and asthma susceptibility. Nature Immunology 15 (8), pp. 777 - 788 (2014)
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