Bauer S - Search Results

1

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

2

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: bauer s. Bioinformatics. 2011 Mar 15;27(6):829-36. doi: 10.1093/bioinformatics/btr022. Epub 2011 Jan 28. Bioinformatics. 2011. PMID: 21278187 Free PMC article.

3

Walking the interactome for prioritization of candidate disease genes.

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

4

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: bauer 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.

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: bauer s. 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

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: bauer s. Bioinformatics. 2010 Mar 15;26(6):722-9. doi: 10.1093/bioinformatics/btq027. Epub 2010 Feb 9. Bioinformatics. 2010. PMID: 20144947

7

Exact score distribution computation for ontological similarity searches.

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

9

Bayesian ontology querying for accurate and noise-tolerant semantic searches.

Bauer S, Köhler S, Schulz MH, Robinson PN. Bauer S, et al. Bioinformatics. 2012 Oct 1;28(19):2502-8. doi: 10.1093/bioinformatics/bts471. Epub 2012 Jul 26. Bioinformatics. 2012. PMID: 22843981 Free PMC article.

10

Jannovar: a java library for exome annotation.

Jäger M, Wang K, Bauer S, Smedley D, Krawitz P, Robinson PN. Jäger M, et al. Among authors: bauer s. Hum Mutat. 2014 May;35(5):548-55. doi: 10.1002/humu.22531. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24677618

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