Köhler S - Search Results

1

Plain-language medical vocabulary for precision diagnosis.

Vasilevsky NA, Foster ED, Engelstad ME, Carmody L, Might M, Chambers C, Dawkins HJS, Lewis J, Della Rocca MG, Snyder M, Boerkoel CF, Rath A, Terry SF, Kent A, Searle B, Baynam G, Jones E, Gavin P, Bamshad M, Chong J, Groza T, Adams D, Resnick AC, Heath AP, Mungall C, Holm IA, Rageth K, Brownstein CA, Shefchek K, McMurry JA, Robinson PN, Köhler S, Haendel MA. Vasilevsky NA, et al. Among authors: kohler s. Nat Genet. 2018 Apr;50(4):474-476. doi: 10.1038/s41588-018-0096-x. Nat Genet. 2018. PMID: 29632381 Free PMC article. No abstract available.

2

Walking the interactome for prioritization of candidate disease genes.

Köhler S, Bauer S, Horn D, Robinson PN. Köhler S, et al. 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. Among authors: kohler s. 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: kohler s. 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. 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: kohler s. 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

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: kohler s. Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29. Nat Genet. 2010. PMID: 20802478

8

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: kohler s. 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.

9

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. BMC Bioinformatics. 2011 Oct 27;12:418. doi: 10.1186/1471-2105-12-418. BMC Bioinformatics. 2011. PMID: 22032770 Free PMC article.

10

Exact score distribution computation for ontological similarity searches.

Schulz MH, Köhler S, Bauer S, Robinson PN. Schulz MH, et al. Among authors: kohler s. BMC Bioinformatics. 2011 Nov 12;12:441. doi: 10.1186/1471-2105-12-441. BMC Bioinformatics. 2011. PMID: 22078312 Free PMC article.

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