Robinson PN - Search Results

1

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.

Smedley D, Köhler S, Czeschik JC, Amberger J, Bocchini C, Hamosh A, Veldboer J, Zemojtel T, Robinson PN. Smedley D, et al. Among authors: robinson pn. Bioinformatics. 2014 Nov 15;30(22):3215-22. doi: 10.1093/bioinformatics/btu508. Epub 2014 Jul 30. Bioinformatics. 2014. PMID: 25078397 Free PMC article.

2

Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology.

Robinson PN, Wollstein A, Böhme U, Beattie B. Robinson PN, et al. Bioinformatics. 2004 Apr 12;20(6):979-81. doi: 10.1093/bioinformatics/bth040. Epub 2004 Feb 5. Bioinformatics. 2004. PMID: 14764576

3

Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis.

Grossmann S, Bauer S, Robinson PN, Vingron M. Grossmann S, et al. Among authors: robinson pn. Bioinformatics. 2007 Nov 15;23(22):3024-31. doi: 10.1093/bioinformatics/btm440. Epub 2007 Sep 11. Bioinformatics. 2007. PMID: 17848398

4

Walking the interactome for prioritization of candidate disease genes.

Köhler S, Bauer S, Horn D, Robinson PN. Köhler S, et al. Among authors: robinson pn. Am J Hum Genet. 2008 Apr;82(4):949-58. doi: 10.1016/j.ajhg.2008.02.013. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18371930 Free PMC article.

5

Ontologizer 2.0--a multifunctional tool for GO term enrichment analysis and data exploration.

Bauer S, Grossmann S, Vingron M, Robinson PN. Bauer S, et al. Among authors: robinson pn. Bioinformatics. 2008 Jul 15;24(14):1650-1. doi: 10.1093/bioinformatics/btn250. Epub 2008 May 29. Bioinformatics. 2008. PMID: 18511468

6

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. Robinson PN, et al. Am J Hum Genet. 2008 Nov;83(5):610-5. doi: 10.1016/j.ajhg.2008.09.017. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950739 Free PMC article.

7

Short ultraconserved promoter regions delineate a class of preferentially expressed alternatively spliced transcripts.

Rödelsperger C, Köhler S, Schulz MH, Manke T, Bauer S, Robinson PN. Rödelsperger C, et al. Among authors: robinson pn. Genomics. 2009 Nov;94(5):308-16. doi: 10.1016/j.ygeno.2009.07.005. Epub 2009 Aug 4. Genomics. 2009. PMID: 19660540 Free article.

8

Clinical diagnostics in human genetics with semantic similarity searches in ontologies.

Köhler S, Schulz MH, Krawitz P, Bauer S, Dölken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN. Köhler S, et al. Among authors: robinson pn. Am J Hum Genet. 2009 Oct;85(4):457-64. doi: 10.1016/j.ajhg.2009.09.003. Am J Hum Genet. 2009. PMID: 19800049 Free PMC article.

9

Microindel detection in short-read sequence data.

Krawitz P, Rödelsperger C, Jäger M, Jostins L, Bauer S, Robinson PN. Krawitz P, et al. Among authors: robinson pn. Bioinformatics. 2010 Mar 15;26(6):722-9. doi: 10.1093/bioinformatics/btq027. Epub 2010 Feb 9. Bioinformatics. 2010. PMID: 20144947

10

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Krawitz PM, Schweiger MR, 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 BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN. Krawitz PM, et al. Among authors: robinson pn. Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29. Nat Genet. 2010. PMID: 20802478

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