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Selected publications
  1. Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, Bone WP, Haendel MA, Robinson PN. (2015). Next-generation diagnostics and disease-gene discovery with the Exomiser. Nature Protocols, . Link
  2. Brookes AJ, Robinson PN (2015). Human genotype-phenotype databases: aims, challenges and opportunities. Nature Reviews Genetics, . Link
  3. Yang H, Robinson PN, Wang K. (2015). Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. Nature Methods, . Link
  4. Groza, T., Kohler, S., Moldenhauer, D., Vasilevsky, N., Baynam, G., Zemojtel, T., Schriml, L. M., Kibbe, W. A., Schofield, P. N., Beck, T., et al. (2015). The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. The American Journal of Human Genetics, . Link
  5. Haendel, M. A., Vasilevsky, N., Brush, M., Hochheiser, H. S., Jacobsen, J., Oellrich, A., Mungall, C. J., Washington, N., Kohler, S., Lewis, S. E., et al. (2015). Disease insights through cross-species phenotype comparisons. Mamm. Genome, . Link
  6. Kuchenbecker, L., Nienen, M., Hecht, J., Neumann, A. U., Babel, N., Reinert, K., and Robinson, P. N. (2015). IMSEQ - a fast and error aware approach to immunogenetic sequence analysis. Bioinformatics, . Link
  7. Ibn-Salem, J., Kohler, S., Love, M. I., Chung, H. R., Huang, N., Hurles, M. E., Haendel, M., Washington, N. L., Smedley, D., Mungall, C. J., et al. (2014). Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biol. 15, 423. Link
  8. Robinson, P. N. (2014). Genomic data sharing for translational research and diagnostics. Genome Med 6, 78. Link
  9. Kohler, S., Schoeneberg, U., Czeschik, J. C., Doelken, S. C., Hehir-Kwa, J. Y., Ibn-Salem, J., Mungall, C. J., Smedley, D., Haendel, M. A., and Robinson, P. N. (2014). Clinical interpretation of CNVs with cross-species phenotype data. J. Med. Genet. 51, 766–772. Link
  10. Zemojtel, T., Kohler, S., Mackenroth, L., Jager, M., Hecht, J., Krawitz, P., Graul-Neumann, L., Doelken, S., Ehmke, N., Spielmann, M., et al. (2014). Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci Transl Med 6, 252ra123. Link
  11. Smedley, D., Kohler, S., Czeschik, J. C., Amberger, J., Bocchini, C., Hamosh, A., Veldboer, J., Zemojtel, T., and Robinson, P. N. (2014). Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases. Bioinformatics 30, 3215–3222. Link
  12. Robinson, P. N., and Webber, C. (2014). Phenotype ontologies and cross-species analysis for translational research. PLoS Genet. 10, e1004268. Link
  13. Jager, M., Wang, K., Bauer, S., Smedley, D., Krawitz, P., and Robinson, P. N. (2014). Jannovar: a java library for exome annotation. Hum. Mutat. 35, 548–555. Link
  14. Horn, D., Wieczorek, D., Metcalfe, K., Bari, I., Paleac, L., Cuk, M., Petkovic Ramada, D., Kruger, U., Demuth, S., Heinritz, W., et al. (2014). Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome. Eur. J. Hum. Genet. 22, 762–767. Link
  15. Robinson, P. N., Kohler, S., Oellrich, A., Wang, K., Mungall, C. J., Lewis, S. E., Washington, N., Bauer, S., Seelow, D., Krawitz, P., et al. (2014). Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Res. 24, 340–348. Link
  16. Kohler, S., Doelken, S. C., Mungall, C. J., Bauer, S., Firth, H. V., Bailleul-Forestier, I., Black, G. C., Brown, D. L., Brudno, M., Campbell, J., et al. (2014). The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 42, D966–974. Link
  17. Dziubianau, M., Hecht, J., Kuchenbecker, L., Sattler, A., Stervbo, U., Rodelsperger, C., Nickel, P., Neumann, A. U., Robinson, P. N., Mundlos, S., et al. (2013). TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathology. Am. J. Transplant. 13, 2842–2854. Link
  18. Doelken, S. C., Kohler, S., Mungall, C. J., Gkoutos, G. V., Ruef, B. J., Smith, C., Smedley, D., Bauer, S., Klopocki, E., Schofield, P. N., et al. (2013). Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Dis Model Mech 6, 358–372. Link
  19. Aydin, A., Desai, N., Bernhardt, A. M., Treede, H., Detter, C., Sheikhzadeh, S., Rybczynski, M., Hillebrand, M., Lorenzen, V., Mortensen, K., et al. (2013). Ascending aortic aneurysm and aortic valve dysfunction in bicuspid aortic valve disease. Int. J. Cardiol. 164, 301–305. Link
  20. Bauer, S., Kohler, S., Schulz, M. H., and Robinson, P. N. (2012). Bayesian ontology querying for accurate and noise-tolerant semantic searches. Bioinformatics 28, 2502–2508. Link
  21. Kohler, S., Doelken, S. C., Rath, A., Ayme, S., and Robinson, P. N. (2012). Ontological phenotype standards for neurogenetics. Hum. Mutat. 33, 1333–1339. Link
  22. Robinson, P. N. (2012). Deep phenotyping for precision medicine. Hum. Mutat. 33, 777–780. Link
  23. Shaikh, A., and Robinson, P. N. (2012). An ADEPT apology. Anaesthesia 67, 432–433. Link
  24. Chen, C. K., Mungall, C. J., Gkoutos, G. V., Doelken, S. C., Kohler, S., Ruef, B. J., Smith, C., Westerfield, M., Robinson, P. N., Lewis, S. E., et al. (2012). MouseFinder: Candidate disease genes from mouse phenotype data. Hum. Mutat. 33, 858–866. Link
  25. Lucas, D. N., Robinson, P. N., and Nel, M. R. (2012). Sepsis in obstetrics and the role of the anaesthetist. Int J Obstet Anesth 21, 56–67. Link
  26. Heinrich, V., Stange, J., Dickhaus, T., Imkeller, P., Kruger, U., Bauer, S., Mundlos, S., Robinson, P. N., Hecht, J., and Krawitz, P. M. (2012). The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Res. 40, 2426–2431. Link
  27. Bauer, S., Robinson, P. N., and Gagneur, J. (2011). Model-based gene set analysis for Bioconductor. Bioinformatics 27, 1882–1883. Link
  28. Jager, M., Ott, C. E., Grunhagen, J., Hecht, J., Schell, H., Mundlos, S., Duda, G. N., Robinson, P. N., and Lienau, J. (2011). Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing. BMC Genomics 12, 158. Link
  29. Ott, C. E., Grunhagen, J., Jager, M., Horbelt, D., Schwill, S., Kallenbach, K., Guo, G., Manke, T., Knaus, P., Mundlos, S., et al. (2011). MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3’ UTR and coding-sequence binding sites. PLoS ONE 6, e16250. Link
  30. Rodelsperger, C., Krawitz, P., Bauer, S., Hecht, J., Bigham, A. W., Bamshad, M., Condor, B. J. de, Schweiger, M. R., and Robinson, P. N. (2011). Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 27, 829–836. Link
  31. Rodelsperger, C., Guo, G., Kolanczyk, M., Pletschacher, A., Kohler, S., Bauer, S., Schulz, M. H., and Robinson, P. N. (2011). Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Res. 39, 2492–2502. Link
  32. Krawitz, P. M., Schweiger, M. R., Rodelsperger, C., Marcelis, C., Kolsch, U., Meisel, C., Stephani, F., Kinoshita, T., Murakami, Y., Bauer, S., et al. (2010). Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat. Genet. 42, 827–829. Link
  33. Robinson, P. N., and Mundlos, S. (2010). The human phenotype ontology. Clin. Genet. 77, 525–534. Link
  34. Bauer, S., Gagneur, J., and Robinson, P. N. (2010). GOing Bayesian: model-based gene set analysis of genome-scale data. Nucleic Acids Res. 38, 3523–3532. Link
  35. Krawitz, P., Rodelsperger, C., Jager, M., Jostins, L., Bauer, S., and Robinson, P. N. (2010). Microindel detection in short-read sequence data. Bioinformatics 26, 722–729. Link
  36. Kohler, S., Schulz, M. H., Krawitz, P., Bauer, S., Dolken, S., Ott, C. E., Mundlos, C., Horn, D., Mundlos, S., and Robinson, P. N. (2009). Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am. J. Hum. Genet. 85, 457–464. Link
  37. Bieler, F. H., Ott, C. E., Thompson, M. S., Seidel, R., Ahrens, S., Epari, D. R., Wilkening, U., Schaser, K. D., Mundlos, S., and Duda, G. N. (2009). Biaxial cell stimulation: A mechanical validation. J Biomech 42, 1692–1696. Link
  38. Robinson, P. N., Kohler, S., Bauer, S., Seelow, D., Horn, D., and Mundlos, S. (2008). The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Am. J. Hum. Genet. 83, 610–615. Link
  39. Bauer, S., Grossmann, S., Vingron, M., and Robinson, P. N. (2008). Ontologizer 2.0–a multifunctional tool for GO term enrichment analysis and data exploration. Bioinformatics 24, 1650–1651. Link
  40. Kohler, S., Bauer, S., Horn, D., and Robinson, P. N. (2008). Walking the interactome for prioritization of candidate disease genes. Am. J. Hum. Genet. 82, 949–958. Link
  41. Grossmann, S., Bauer, S., Robinson, P. N., and Vingron, M. (2007). Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis. Bioinformatics 23, 3024–3031. Link