Publikationen von P. N. Robinson

Horn, D.; Robinson, P. N.: Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. Am J Med Genet A 155A (4), S. 721 - 4 (2011)

Huang, J.; Mirel, D.; Pugh, E.; Xing, C.; Robinson, P. N.; Pertsemlidis, A.; Ding, L.; Kozlitina, J.; Maher, J.; Rios, J. et al.; Story, M.; Marthandan, N.; Scheuermann, R. H.: Minimum Information about a Genotyping Experiment (MIGEN). Stand Genomic Sci 5 (2), S. 224 - 9 (2011)

Jager, M.; Ott, C. E.; Grunhagen, J.; Hecht, J.; Schell, H.; Mundlos, S.; Duda, G. N.; Robinson, P. N.; Lienau, J.: Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing. BMC Genomics 12, S. 158 (2011)

Kohler, S.; Bauer, S.; Mungall, C. J.; Carletti, G.; Smith, C. L.; Schofield, P.; Gkoutos, G. V.; Robinson, P. N.: Improving ontologies by automatic reasoning and evaluation of logical definitions. BMC Bioinformatics 12, S. 418 (2011)

Kossler, N.; Stricker, S.; Rodelsperger, C.; Robinson, P. N.; Kim, J.; Dietrich, C.; Osswald, M.; Kuhnisch, J.; Stevenson, D. A.; Braun, T. et al.; Mundlos, S.; Kolanczyk, M.: Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet 20 (14), S. 2697 - 709 (2011)

Lindblom, A.; Robinson, P. N.: Bioinformatics for human genetics: promises and challenges. Hum Mutat 32 (5), S. 495 - 500 (2011)

Ott, C. E.; Grunhagen, J.; Jager, M.; Horbelt, D.; Schwill, S.; Kallenbach, K.; Guo, G.; Manke, T.; Knaus, P.; Mundlos, S. et al.; Robinson, P. N.: MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS ONE 6 (1), S. e16250 (2011)

Robinson, P. N.; Krawitz, P.; Mundlos, S.: Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin Genet 80 (2), S. 127 - 32 (2011)

Rodelsperger, C.; Guo, G.; Kolanczyk, M.; Pletschacher, A.; Kohler, S.; Bauer, S.; Schulz, M. H.; Robinson, P. N.: Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Res 39 (7), S. 2492 - 502 (2011)

Rodelsperger, C.; Krawitz, P.; Bauer, S.; Hecht, J.; Bigham, A. W.; Bamshad, M.; de Condor, B. J.; Schweiger, M. R.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 27 (6), S. 829 - 36 (2011)

Rodelsperger, C.; Krawitz, P.; Bauer, S.; Hecht, J.; Bigham, A. W.; Bamshad, M.; de Condor, B. J.; Schweiger, M. R.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 27 (6), S. 829 - 36 (2011)

Rybczynski, M.; Treede, H.; Sheikhzadeh, S.; Groene, E. F.; Bernhardt, A. M.; Hillebrand, M.; Mir, T. S.; Kuhne, K.; Koschyk, D.; Robinson, P. N. et al.; Berger, J.; Reichenspurner, H.; Meinertz, T.; von Kodolitsch, Y.: Predictors of outcome of mitral valve prolapse in patients with the Marfan syndrome. Am J Cardiol 107 (2), S. 268 - 74 (2011)

Schulz, M. H.; Kohler, S.; Bauer, S.; Robinson, P. N.: Exact score distribution computation for ontological similarity searches. BMC Bioinformatics 12, S. 441 (2011)

Sheikhzadeh, S.; Rybczynski, M.; Habermann, C. R.; Bernhardt, A. M.; Arslan-Kirchner, M.; Keyser, B.; Kaemmerer, H.; Mir, T. S.; Staebler, A.; Oezdal, N. et al.; Robinson, P. N.; Berger, J.; Meinertz, T.; von Kodolitsch, Y.: Dural ectasia in individuals with Marfan-like features but exclusion of mutations in the genes FBN1, TGFBR1 and TGFBR2. Clin Genet 79 (6), S. 568 - 74 (2011)

Robinson, P. N.: Whole-exome sequencing for finding de novo mutations in sporadic mental retardation. Genome Biology 11 (12), S. 11:144 - 11:144 (2010)

Horbelt, D.; Guo, G.; Robinson, P. N.; Knaus, P.: Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. Journal of Cell Science 123 (Pt 24), S. 4340 - 4350 (2010)

Rödelsperger, C.; Guo, G.; Kolanczyk, M.; Pletschacher, A.; Köhler, S.; Bauer, S.; Schulz, M. H.; Robinson, P. N.: Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Research 24 (2), S. 1 - 11 (2010)

Graul-Neumann, L. M.; Kienitz, T.; Robinson, P. N.; Baasanjav, S.; Karow, B.; Gillessen-Kaesbach, G.; Fahsold, R.; Schmidt, H.; Hoffmann, K.; Passarge, E.: Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. American Journal of Medical Genetics Part A 152A (11), S. 2749 - 2755 (2010)

Rybczynski, M.; Mir, T. S.; Sheikhzadeh, S.; Bernhardt, A. M.; Schad, C.; Treede, H.; Veldhoen, S.; Groene, E. F.; Kühne, K.; Koschyk, D. et al.; Robinson, P. N.; Berger, J.; Reichenspurner, H.; Meinertz, T.; von Kodolitsch, Y.: Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. American Journal of Cardiol 106 (7), S. 1048 - 1053 (2010)

Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S. et al.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N.: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 42 (10), S. 827 - 829 (2010)