Peter N. Robinson
Department of Molecular Medicine and Surgery
Karolinska Institutet
Stockholm
Sweden
Name/email consistency: high
- Bioinformatics for human genetics: promises and challenges. Lindblom, A., Robinson, P.N. Hum. Mutat. (2011)
- Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Krawitz, P.M., Schweiger, M.R., Rödelsperger, C., Marcelis, C., Kölsch, U., Meisel, C., Stephani, F., Kinoshita, T., Murakami, Y., Bauer, S., Isau, M., Fischer, A., Dahl, A., Kerick, M., Hecht, J., Köhler, S., Jäger, 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. Nat. Genet. (2010)
- The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. Robinson, P.N., Köhler, S., Bauer, S., Seelow, D., Horn, D., Mundlos, S. Am. J. Hum. Genet. (2008)
- The molecular genetics of Marfan syndrome and related disorders. Robinson, P.N., Arteaga-Solis, E., Baldock, C., Collod-Béroud, G., Booms, P., De Paepe, A., Dietz, H.C., Guo, G., Handford, P.A., Judge, D.P., Kielty, C.M., Loeys, B., Milewicz, D.M., Ney, A., Ramirez, F., Reinhardt, D.P., Tiedemann, K., Whiteman, P., Godfrey, M. J. Med. Genet. (2006)
- Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology. Robinson, P.N., Wollstein, A., Böhme, U., Beattie, B. Bioinformatics (2004)
- Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis. Robinson, P.N., Böhme, U., Lopez, R., Mundlos, S., Nürnberg, P. Hum. Mol. Genet. (2004)
- Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Robinson, P.N., Booms, P., Katzke, S., Ladewig, M., Neumann, L., Palz, M., Pregla, R., Tiecke, F., Rosenberg, T. Hum. Mutat. (2002)
- The molecular pathogenesis of the Marfan syndrome. Robinson, P.N., Booms, P. Cell. Mol. Life Sci. (2001)