Robinson PN - Search Results

1

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN. Köhler S, et al. Among authors: robinson pn. Nucleic Acids Res. 2014 Jan;42(Database issue):D966-74. doi: 10.1093/nar/gkt1026. Epub 2013 Nov 11. Nucleic Acids Res. 2014. PMID: 24217912 Free PMC article.

2

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

3

A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.

Guo G, Bauer S, Hecht J, Schulz MH, Busche A, Robinson PN. Guo G, et al. Among authors: robinson pn. Int J Biochem Cell Biol. 2008;40(4):638-50. doi: 10.1016/j.biocel.2007.09.004. Epub 2007 Oct 2. Int J Biochem Cell Biol. 2008. PMID: 17996480

4

The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences.

Schulz MH, Bauer S, Robinson PN. Schulz MH, et al. Among authors: robinson pn. Int J Bioinform Res Appl. 2008;4(1):81-95. doi: 10.1504/IJBRA.2008.017165. Int J Bioinform Res Appl. 2008. PMID: 18283030

5

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.

6

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

7

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.

8

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.

9

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.

10

Entity/quality-based logical definitions for the human skeletal phenome using PATO.

Gkoutos GV, Mungall C, Dolken S, Ashburner M, Lewis S, Hancock J, Schofield P, Kohler S, Robinson PN. Gkoutos GV, et al. Among authors: robinson pn. Annu Int Conf IEEE Eng Med Biol Soc. 2009;2009:7069-72. doi: 10.1109/IEMBS.2009.5333362. Annu Int Conf IEEE Eng Med Biol Soc. 2009. PMID: 19964203 Free PMC article.

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