Hoehndorf R - Search Results

1

DeepPVP: phenotype-based prioritization of causative variants using deep learning.

Boudellioua I, Kulmanov M, Schofield PN, Gkoutos GV, Hoehndorf R. Boudellioua I, et al. Among authors: hoehndorf r. BMC Bioinformatics. 2019 Feb 6;20(1):65. doi: 10.1186/s12859-019-2633-8. BMC Bioinformatics. 2019. PMID: 30727941 Free PMC article.

2

A common layer of interoperability for biomedical ontologies based on OWL EL.

Hoehndorf R, Dumontier M, Oellrich A, Wimalaratne S, Rebholz-Schuhmann D, Schofield P, Gkoutos GV. Hoehndorf R, et al. Bioinformatics. 2011 Apr 1;27(7):1001-8. doi: 10.1093/bioinformatics/btr058. Epub 2011 Feb 21. Bioinformatics. 2011. PMID: 21343142 Free PMC article.

3

PhenomeNET: a whole-phenome approach to disease gene discovery.

Hoehndorf R, Schofield PN, Gkoutos GV. Hoehndorf R, et al. Nucleic Acids Res. 2011 Oct;39(18):e119. doi: 10.1093/nar/gkr538. Epub 2011 Jul 6. Nucleic Acids Res. 2011. PMID: 21737429 Free PMC article.

4

Interoperability between biomedical ontologies through relation expansion, upper-level ontologies and automatic reasoning.

Hoehndorf R, Dumontier M, Oellrich A, Rebholz-Schuhmann D, Schofield PN, Gkoutos GV. Hoehndorf R, et al. PLoS One. 2011;6(7):e22006. doi: 10.1371/journal.pone.0022006. Epub 2011 Jul 18. PLoS One. 2011. PMID: 21789201 Free PMC article.

5

Integrating systems biology models and biomedical ontologies.

Hoehndorf R, Dumontier M, Gennari JH, Wimalaratne S, de Bono B, Cook DL, Gkoutos GV. Hoehndorf R, et al. BMC Syst Biol. 2011 Aug 11;5:124. doi: 10.1186/1752-0509-5-124. BMC Syst Biol. 2011. PMID: 21835028 Free PMC article.

6

PIDO: the primary immunodeficiency disease ontology.

Adams N, Hoehndorf R, Gkoutos GV, Hansen G, Hennig C. Adams N, et al. Among authors: hoehndorf r. Bioinformatics. 2011 Nov 15;27(22):3193-9. doi: 10.1093/bioinformatics/btr531. Epub 2011 Sep 22. Bioinformatics. 2011. PMID: 21949270

7

New approaches to the representation and analysis of phenotype knowledge in human diseases and their animal models.

Schofield PN, Sundberg JP, Hoehndorf R, Gkoutos GV. Schofield PN, et al. Among authors: hoehndorf r. Brief Funct Genomics. 2011 Sep;10(5):258-65. doi: 10.1093/bfgp/elr031. Brief Funct Genomics. 2011. PMID: 21987712 Free PMC article. Review.

8

An infrastructure for ontology-based information systems in biomedicine: RICORDO case study.

Wimalaratne SM, Grenon P, Hoehndorf R, Gkoutos GV, de Bono B. Wimalaratne SM, et al. Among authors: hoehndorf r. Bioinformatics. 2012 Feb 1;28(3):448-50. doi: 10.1093/bioinformatics/btr662. Epub 2011 Nov 29. Bioinformatics. 2012. PMID: 22130590

9

Linking PharmGKB to phenotype studies and animal models of disease for drug repurposing.

Hoehndorf R, Oellrich A, Rebholz-Schuhmann D, Schofield PN, Gkoutos GV. Hoehndorf R, et al. Pac Symp Biocomput. 2012:388-99. Pac Symp Biocomput. 2012. PMID: 22174294 Free article.

10

Mouse genetic and phenotypic resources for human genetics.

Schofield PN, Hoehndorf R, Gkoutos GV. Schofield PN, et al. Among authors: hoehndorf r. Hum Mutat. 2012 May;33(5):826-36. doi: 10.1002/humu.22077. Hum Mutat. 2012. PMID: 22422677 Free PMC article. Review.

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