| Walking the interactome for prioritization of candidate disease genes S Köhler, S Bauer, D Horn, PN Robinson The American Journal of Human Genetics 82 (4), 949-958, 2008 | 1359 | 2008 |
| The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease PN Robinson, S Köhler, S Bauer, D Seelow, D Horn, S Mundlos The American Journal of Human Genetics 83 (5), 610-615, 2008 | 1076 | 2008 |
| The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ... Nucleic acids research 42 (D1), D966-D974, 2014 | 940 | 2014 |
| Ontologizer 2.0—a multifunctional tool for GO term enrichment analysis and data exploration S Bauer, S Grossmann, M Vingron, PN Robinson Bioinformatics 24 (14), 1650-1651, 2008 | 576 | 2008 |
| Clinical diagnostics in human genetics with semantic similarity searches in ontologies S Köhler, MH Schulz, P Krawitz, S Bauer, S Dölken, CE Ott, C Mundlos, ... The American Journal of Human Genetics 85 (4), 457-464, 2009 | 572 | 2009 |
| Improved detection of overrepresentation of Gene-Ontology annotations with parent–child analysis S Grossmann, S Bauer, PN Robinson, M Vingron Bioinformatics 23 (22), 3024-3031, 2007 | 427 | 2007 |
| Improved exome prioritization of disease genes through cross-species phenotype comparison PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ... Genome research, 2013 | 389 | 2013 |
| Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome PM Krawitz, MR Schweiger, C Rödelsperger, C Marcelis, U Kölsch, ... Nature genetics 42 (10), 827-829, 2010 | 380 | 2010 |
| GOing Bayesian: model-based gene set analysis of genome-scale data S Bauer, J Gagneur, PN Robinson Nucleic acids research 38 (11), 3523-3532, 2010 | 197 | 2010 |
| Microindel detection in short-read sequence data P Krawitz, C Rödelsperger, M Jäger, L Jostins, S Bauer, PN Robinson Bioinformatics 26 (6), 722-729, 2010 | 123 | 2010 |
| Introduction to Bio-ontologies PN Robinson, S Bauer Taylor & Francis US, 2011 | 114 | 2011 |
| Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research S Köhler, SC Doelken, BJ Ruef, S Bauer, N Washington, M Westerfield, ... F1000Research 2, 2013 | 93 | 2013 |
| Bayesian ontology querying for accurate and noise-tolerant semantic searches S Bauer, S Köhler, MH Schulz, PN Robinson Bioinformatics 28 (19), 2502-2508, 2012 | 77 | 2012 |
| Model-based gene set analysis for Bioconductor S Bauer, PN Robinson, J Gagneur Bioinformatics 27 (13), 1882-1883, 2011 | 65 | 2011 |
| Improving ontologies by automatic reasoning and evaluation of logical definitions S Köhler, S Bauer, C Mungall, G Carletti, C Smith, P Schofield, G Gkoutos, ... BMC bioinformatics 12 (1), 418, 2011 | 63 | 2011 |
| The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process V Heinrich, J Stange, T Dickhaus, P Imkeller, U Krüger, S Bauer, ... Nucleic acids research 40 (6), 2426-2431, 2012 | 58 | 2012 |
| An improved statistic for detecting over-represented gene ontology annotations in gene sets S Grossmann, S Bauer, P Robinson, M Vingron Research in Computational Molecular Biology, 85-98, 2006 | 58 | 2006 |
| 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 … SC Doelken, S Köhler, CJ Mungall, GV Gkoutos, BJ Ruef, C Smith, ... Disease models & mechanisms 6 (2), 358-372, 2013 | 54 | 2013 |
| Methods for searching with semantic similarity scores in one or more ontologies PN Robinson, MH Schulz, S Bauer, S Köhler US Patent App. 12/461,517, 2009 | 52* | 2009 |
| Identity-by-descent filtering of exome sequence data for disease–gene identification in autosomal recessive disorders C Rödelsperger, P Krawitz, S Bauer, J Hecht, AW Bigham, M Bamshad, ... Bioinformatics 27 (6), 829-836, 2011 | 45 | 2011 |
