Robinson PN - Search Results

1

Disease insights through cross-species phenotype comparisons.

Haendel MA, Vasilevsky N, Brush M, Hochheiser HS, Jacobsen J, Oellrich A, Mungall CJ, Washington N, Köhler S, Lewis SE, Robinson PN, Smedley D. Haendel MA, et al. Among authors: robinson pn. Mamm Genome. 2015 Oct;26(9-10):548-55. doi: 10.1007/s00335-015-9577-8. Epub 2015 Jun 20. Mamm Genome. 2015. PMID: 26092691 Free PMC article. Review.

2

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.

3

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.

4

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.

5

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.

6

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.

7

Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions.

Rödelsperger C, Guo G, Kolanczyk M, Pletschacher A, Köhler S, Bauer S, Schulz MH, Robinson PN. Rödelsperger C, et al. Among authors: robinson pn. Nucleic Acids Res. 2011 Apr;39(7):2492-502. doi: 10.1093/nar/gkq1081. Epub 2010 Nov 24. Nucleic Acids Res. 2011. PMID: 21109530 Free PMC article.

8

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation.

Robinson PN. Robinson PN. Genome Biol. 2010;11(12):144. doi: 10.1186/gb-2010-11-12-144. Epub 2010 Dec 21. Genome Biol. 2010. PMID: 21172032 Free PMC article.

9

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.

Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, de Condor BJ, Schweiger MR, Robinson PN. Rödelsperger C, et al. Among authors: robinson pn. Bioinformatics. 2011 Mar 15;27(6):829-36. doi: 10.1093/bioinformatics/btr022. Epub 2011 Jan 28. Bioinformatics. 2011. PMID: 21278187 Free PMC article.

10

Improving ontologies by automatic reasoning and evaluation of logical definitions.

Köhler S, Bauer S, Mungall CJ, Carletti G, Smith CL, Schofield P, Gkoutos GV, Robinson PN. Köhler S, et al. Among authors: robinson pn. BMC Bioinformatics. 2011 Oct 27;12:418. doi: 10.1186/1471-2105-12-418. BMC Bioinformatics. 2011. PMID: 22032770 Free PMC article.

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