Sebastian Bauer
Helmholtz Centre Potsdam - GFZ German Research Centre for Geosciences(DE)
Publications by Year
Research Areas
Bioinformatics and Genomic Networks, Biomedical Text Mining and Ontologies, Genomics and Rare Diseases, Gene expression and cancer classification, Genomics and Phylogenetic Studies
Most-Cited Works
- → Walking the Interactome for Prioritization of Candidate Disease Genes(2008)1,288 cited
- → The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease(2008)1,043 cited
- → The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data(2013)837 cited
- → Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies(2009)612 cited
- → Improved detection of overrepresentation of Gene-Ontology annotations with parent–child analysis(2007)385 cited
- → Improved exome prioritization of disease genes through cross-species phenotype comparison(2013)381 cited
- → Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome(2010)299 cited
- → Deletions of chromosomal regulatory boundaries are associated with congenital disease(2014)148 cited
- → Microindel detection in short-read sequence data(2010)113 cited
- → Jannovar: A Java Library for Exome Annotation(2014)81 cited