Bauer, Sebastian

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. (2008) · The American Journal of Human Genetics

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 1,034

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

Köhler, S., Schulz, M. H., Krawitz, P., Bauer, S., Dölken, S., Ott, C. E., Mundlos, C., Horn, D., Mundlos, S., & Robinson, P. N. (2009) · The American Journal of Human Genetics

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 590

Improved exome prioritization of disease genes through cross-species phenotype comparison

Robinson, P. N., Köhler, S., Oellrich, A., Sanger Mouse Genetics Project, Wang, K., Mungall, C. J., Lewis, S. E., Washington, N., Bauer, S., Seelow, D., et al. (2014) · Genome Research

Genomics and Rare DiseasesBioinformatics and Genomic Networks

Cited by 375

Deletions of chromosomal regulatory boundaries are associated with congenital disease

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) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenomics and Chromatin Dynamics

Cited by 143

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

Heinrich, V., Stange, J., Dickhaus, T., Imkeller, P., Krüger, U., Bauer, S., Mundlos, S., Robinson, P. N., Hecht, J., & Krawitz, P. M. (2012) · Nucleic Acids Research

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 43