Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

180 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Towards a standard benchmark for variant and gene prioritisation algorithms: PhEval - Phenotypic inference Evaluation framework.
Bridges Y, de Souza V, Cortes KG, Haendel M, Harris NL, Korn DR, Marinakis NM, Matentzoglu N, McLaughlin JA, Mungall CJ, Osumi-Sutherland D, Robinson PN, Smedley D, Jacobsen JO. Bridges Y, et al. Among authors: mungall cj. bioRxiv [Preprint]. 2024 Jun 16:2024.06.13.598672. doi: 10.1101/2024.06.13.598672. bioRxiv. 2024. PMID: 38915571 Free PMC article. Preprint.
Integrating phenotype ontologies across multiple species.
Mungall CJ, Gkoutos GV, Smith CL, Haendel MA, Lewis SE, Ashburner M. Mungall CJ, et al. Genome Biol. 2010 Jan 8;11(1):R2. doi: 10.1186/gb-2010-11-1-r2. Genome Biol. 2010. PMID: 20064205 Free PMC article.
Uberon, an integrative multi-species anatomy ontology.
Mungall CJ, Torniai C, Gkoutos GV, Lewis SE, Haendel MA. Mungall CJ, et al. Genome Biol. 2012 Jan 31;13(1):R5. doi: 10.1186/gb-2012-13-1-r5. Genome Biol. 2012. PMID: 22293552 Free PMC article.
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish.
Doelken SC, Köhler S, Mungall CJ, Gkoutos GV, Ruef BJ, Smith C, Smedley D, Bauer S, Klopocki E, Schofield PN, Westerfield M, Robinson PN, Lewis SE. Doelken SC, et al. Among authors: mungall cj. Dis Model Mech. 2013 Mar;6(2):358-72. doi: 10.1242/dmm.010322. Epub 2012 Oct 25. Dis Model Mech. 2013. PMID: 23104991 Free PMC article.
Improved exome prioritization of disease genes through cross-species phenotype comparison.
Robinson PN, Köhler S, Oellrich A; Sanger Mouse Genetics Project; Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D. Robinson PN, et al. Among authors: mungall cj. Genome Res. 2014 Feb;24(2):340-8. doi: 10.1101/gr.160325.113. Epub 2013 Oct 25. Genome Res. 2014. PMID: 24162188 Free PMC article.
Clinical interpretation of CNVs with cross-species phenotype data.
Köhler S, Schoeneberg U, Czeschik JC, Doelken SC, Hehir-Kwa JY, Ibn-Salem J, Mungall CJ, Smedley D, Haendel MA, Robinson PN. Köhler S, et al. Among authors: mungall cj. J Med Genet. 2014 Nov;51(11):766-772. doi: 10.1136/jmedgenet-2014-102633. Epub 2014 Oct 3. J Med Genet. 2014. PMID: 25280750 Free PMC article.
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: mungall cj. 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.
180 results