Publications

2010

Bauer S, Gagneur J, and Robinson PN

Krawitz P, Rödelsperger C, Jäger M, Jostins L, Bauer S, Robinson PN
Microindel detection in short-read sequence data.
Bioinformatics, 26(6) 722-729 (2010) [pubmed]

2009

Köhler S, Schulz MH, Krawitz P, Bauer S, Dölken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies.
The American Journal of Human Genetics 85, 457-64, October 2009 [pubmed]

Rödelsperger C, Köhler S, Schulz MH, Manke T, Bauer S, Robinson PN (2009)
Short Ultraconserved Promoter Regions Deliniate a Class of Preferentially Expressed Alternatively Spliced Transcripts.
Genomics 94:308-316 [pubmed]

Schulz MH, Köhler S, Bauer S, Vingron M, Robinson PN
Exact Score Distribution Computation for Similarity Searches in Ontologies.
WABI 2009, LNBI 5724, pp. 298-309, 2009 [scholar]

Gkoutos GV, Mungall C, Dölken S, Ashburner M, Lewis S, Hancock J, Schofield P, Köhler S, and  Robinson PN
Entity/Quality-Based Logical Definitions for the Human Skeletal Phenome using PATO
Proceedings of the 31st Annual International Conference of the IEEE Engineering in
Medicine and Biology Society (EMBC)

Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN (2009)

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. 

PLoS Genet. 5:e1000487. [PLoS Genet].

Ott CE, Bauer S, Manke T, Ahrens S, Rödelsperger C, Grünhagen J, KornakU, Duda G, Mundlos S, Robinson PN (2009) 

2008

Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. (November 2008) 

Bauer S, Grossmann S, Vingron M, Robinson PN. (May 2008)  Ontologizer 2.0 - A Multifunctional Tool for GO Term Enrichment Analysis and Data Exploration.
Bioinformatics 24(14):1650-1 [pubmed] [Software]

Köhler S*, Bauer S*, Horn D, Robinson PN (April 2008) Walking the Interactome for Prioritization of Candidate Disease Genes.
The American Journal of Human Genetics 82, 949-958. [pubmed] [Software]
_{* both authors contributed equally}

Schulz MH*, Bauer S*, Robinson PN (2008) The Generalized k-Truncated Suffix Tree for Time- and Space-Efficient Searches in Multiple DNA or Protein Sequences.
International Journal of Bioinformatics Research and Applications (IJBRA), 4:81-95. [pubmed] [Software]
_{* both authors contributed equally}

2007

Guo G, Bauer S, Hecht J, Schulz MH, Busche A, Robinson PN (2007) A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.
Int J Biochem Cell Biol 2007 Oct 2; [Epub ahead of print] [pubmed]

Grossmann S, Bauer S, Robinson PN, Vingron M (2007) Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis.
Bioinformatics 23:3024–3031. [pubmed] [software]

Hecht J, Seitz V, Urban M, Wagner F, Robinson PN, Stiege A, Dieterich C, Kornak U, Wilkening U, Brieske N, Zwingman C, Kidess A, Stricker S, Mundlos S (2007) Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model.
Gene Expr Patterns 7:102-12. [pubmed]

2006

Jochen Hecht, Heiner Kuhl, Stefan A Haas, Sebastian Bauer, Albert J Poustka, Jasmin Lienau, Hanna Schell, Asita C Stiege, Volkhard Seitz, Richard Reinhardt, Georg N Duda, Stefan Mundlos, Robinson PN (2006) Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep.
BMC Genomics 7:172. [pubmed]

Beattie BJ, Robinson PN (2006) Binary State Pattern Clustering: A Digital Paradigm for Class and Biomarker Discovery.
Journal of Computational Biology 13:1114-1130. [pubmed]

Vanita V, Singh D, Robinson PN, Sperling K, Singh JR (2006) A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family.
Am J Med Genet A. 140:558-66. [pubmed]

Wenzel K, Carl M, Perrot A, Zabojszcza J, Assadi M, Ebeling M, Geier C, Robinson PN, Kress W, Osterziel KJ, Spuler S (2006) Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA
decay and possible C2-domain misfolding
Hum Mutat 27:599-600. [pubmed]

Booms P, Ney A, Barthel F, Moroy G, Counsell D, Gille C, Guo G, Pregla R, Mundlos S, Alix AJ, Robinson PN (2006) A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis.
J Mol Cell Cardiol 40:234-46. [pubmed] [Software]

Gille C, Robinson PN (2006) HotSwap for bioinformatics: a STRAP tutorial.
BMC Bioinformatics 7:64. [pubmed] [STRAP Homepage]

2004

Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S (2004) A molecular pathogenesis for transcription factor associated poly-alanine tractexpansions.
Hum Mol Genet 13:2351-9. [pubmed]

Robinson PN, Böhme U, Lopez R, Mundlos S, Nürnberg P (2004) Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.
Hum Mol Genet 13:1969-78. [pubmed]

Robinson PN, Wollstein A, Böhme U, Beattie B (2004) Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology.
Bioinformatics 20:979-81. [pubmed]