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Selected Publications
  1. Vasilevsky N, ... , Robinson PN, Köhler S, Haendel MA (2018). Plain-language medical vocabulary for precision diagnosis Nature Genetics . Link
  2. Köhler S (2018). Improved ontology-based similarity calculations using a study-wise annotation model. Database (Oxford) . Link
  3. Köhler S et al. (2017). "Opposite-of"-information improves similarity calculations in phenotype ontologies BioRxiv . Link
  4. Köhler S et al. (2017). The Human Phenotype Ontology in 2017 Nucleic acids research . Link
  5. 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
  6. Groza, T., Köhler, 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
  7. Haendel, M. A., Vasilevsky, N., Brush, M., Hochheiser, H. S., Jacobsen, J., Oellrich, A., Mungall, C. J., Washington, N., Köhler, S., Lewis, S. E., et al. (2015). Disease insights through cross-species phenotype comparisons. Mamm. Genome, . Link
  8. Deans, A. R., Lewis, S. E., Huala, E., Anzaldo, S. S., Ashburner, M., Balhoff, J. P., Blackburn, D. C., Blake, J. A., Burleigh, J. G., Chanet, B., et al. (2015). Finding our way through phenotypes. PLoS Biol. 13, e1002033. Link
  9. 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. (2014). Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biol. 15, 423. Link
  10. Köhler, 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
  11. Zemojtel, T.*, Köhler, 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
  12. Smedley, D.*, Köhler, 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
  13. Robinson, P. N., Köhler, 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
  14. Köhler, S., et al. (2014). The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 42, D966–974. Link
  15. Köhler, S., Doelken, S. C., Ruef, B. J., Bauer, S., Washington, N., Westerfield, M., Gkoutos, G., Schofield, P., Smedley, D., Lewis, S. E., et al. (2013). Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research. F1000Res 2, 30. Link
  16. Doelken, S. C., Köhler, 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
  17. Bauer, S., Köhler, S., Schulz, M. H., and Robinson, P. N. (2012). Bayesian ontology querying for accurate and noise-tolerant semantic searches. Bioinformatics 28, 2502–2508. Link
  18. Köhler, S., Doelken, S. C., Rath, A., Ayme, S., and Robinson, P. N. (2012). Ontological phenotype standards for neurogenetics. Hum. Mutat. 33, 1333–1339. Link
  19. Köhler, 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
  20. Robinson, P. N., Köhler, 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
  21. Köhler, 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