ZFIN ID: ZDB-PERS-160405-2
Robinson, Peter N.
Email: peter.robinson@charite.de
URL: http://compbio.charite.de
Affiliation:
Address: Professor of Medical Genomics Professor in the Bioinformatics Division of the Department of Mathematics and Computer Science of the Freie Universität Berlin Institut für Medizinische Genetik und Humangenetik Charité - Universitätsmedizin Berlin Augustenburger Platz 1 13353 Berlin Germany
Country:
Phone: +4930 450566006
Fax:
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS
The CBB group at the Institute for Medical Genetics and Human Genetics at Charité-Universitätsmedizin Berlin develops algorithms and applications in the field of Gene Ontology, Phenotypic Analysis, Machine Learning, and modeling of biological networks with the tools of linear algebra and graph theory. We also collaborate on the computational analysis of wetlab biological data, especially in the fields of human hereditary disease and the molecular basis of bone development and fracture healing.


PUBLICATIONS
Bone, W.P., Washington, N.L., Buske, O.J., Adams, D.R., Davis, J., Draper, D., Flynn, E.D., Girdea, M., Godfrey, R., Golas, G., Groden, C., Jacobsen, J., Köhler, S., Lee, E.M., Links, A.E., Markello, T.C., Mungall, C.J., Nehrebecky, M., Robinson, P.N., Sincan, M., Soldatos, A.G., Tifft, C.J., Toro, C., Trang, H., Valkanas, E., Vasilevsky, N., Wahl, C., Wolfe, L.A., Boerkoel, C.F., Brudno, M., Haendel, M.A., Gahl, W.A., Smedley, D. (2016) Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genetics in medicine : official journal of the American College of Medical Genetics. 18:608-17
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., Robinson, P.N. (2014) Clinical interpretation of CNVs with cross-species phenotype data. Journal of Medical Genetics. 51(11):766-72
Robinson, P.N., Webber, C. (2014) Phenotype ontologies and cross-species analysis for translational research. PLoS Genetics. 10:e1004268
Köhler, 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., Fitzpatrick, D.R., Eppig, J.T., Jackson, A.P., Freson, K., Girdea, M., Helbig, I., Hurst, J.A., Jähn, J., Jackson, L.G., Kelly, A.M., Ledbetter, D.H., Mansour, S., Martin, C.L., Moss, C., Mumford, A., Ouwehand, W.H., Park, S.M., Riggs, E.R., Scott, R.H., Sisodiya, S., Vooren, S.V., Wapner, R.J., Wilkie, A.O., Wright, C.F., Vulto-van Silfhout, A.T., Leeuw, N.D., de Vries, B.B., Washingthon, N.L., Smith, C.L., Westerfield, M., Schofield, P., Ruef, B.J., Gkoutos, G.V., Haendel, M., Smedley, D., Lewis, S.E., and Robinson, P.N. (2014) The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic acids research. 42(1):D966-74
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., Westerfield, M., Robinson, P.N., and Lewis, S.E. (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. Disease models & mechanisms. 6(2):358-372
Köhler, S., Doelken, S.C., Ruef, B.J., Bauer, S., Washington, N., Westerfield, M., Gkoutos, G., Schofield, P., Smedley, D., Lewis, S.E., Robinson, P.N., and Mungall, C.J. (2013) Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research. F1000 Research. 2:30

NON-ZEBRAFISH PUBLICATIONS