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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 2
2006 2
2007 1
2008 5
2009 4
2010 3
2011 3
2012 6
2013 4
2014 10
2015 18
2016 7
2017 15
2018 26
2019 27
2020 9
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Similar Articles for PMID: 29895857

132 results
Results by year
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Page 1
Novel phenotype-disease matching tool for rare genetic diseases.
Chen J, Xu H, Jegga A, Zhang K, White PS, Zhang G. Chen J, et al. Genet Med. 2019 Feb;21(2):339-346. doi: 10.1038/s41436-018-0050-4. Epub 2018 Jun 12. Genet Med. 2019. PMID: 29895857 Free article.
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Pontikos N, Yu J, Moghul I, Withington L, Blanco-Kelly F, Vulliamy T, Wong TLE, Murphy C, Cipriani V, Fiorentino A, Arno G, Greene D, Jacobsen JOB, Clark T, Gregory DS, Nemeth AM, Halford S, Inglehearn CF, Downes S, Black GC, Webster AR, Hardcastle AJ; UKIRDC, Plagnol V. Pontikos N, et al. Bioinformatics. 2017 Aug 1;33(15):2421-2423. doi: 10.1093/bioinformatics/btx147. Bioinformatics. 2017. PMID: 28334266
GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation.
Gottlieb MM, Arenillas DJ, Maithripala S, Maurer ZD, Tarailo Graovac M, Armstrong L, Patel M, van Karnebeek C, Wasserman WW. Gottlieb MM, et al. Hum Mutat. 2015 Apr;36(4):432-8. doi: 10.1002/humu.22772. Epub 2015 Mar 19. Hum Mutat. 2015. PMID: 25703386
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS. Masino AJ, et al. BMC Bioinformatics. 2014 Jul 21;15(1):248. doi: 10.1186/1471-2105-15-248. BMC Bioinformatics. 2014. PMID: 25047600 Free PMC article.
Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.
Jagadeesh KA, Birgmeier J, Guturu H, Deisseroth CA, Wenger AM, Bernstein JA, Bejerano G. Jagadeesh KA, et al. Genet Med. 2019 Feb;21(2):464-470. doi: 10.1038/s41436-018-0072-y. Epub 2018 Jul 12. Genet Med. 2019. PMID: 29997393 Free article.
[From symptom to syndrome using modern software support].
Köhler S. Köhler S. Internist (Berl). 2018 Aug;59(8):766-775. doi: 10.1007/s00108-018-0456-8. Internist (Berl). 2018. PMID: 29995249 Review. German.
VarSight: prioritizing clinically reported variants with binary classification algorithms.
Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A; Undiagnosed Diseases Network, Worthey EA. Holt JM, et al. BMC Bioinformatics. 2019 Oct 15;20(1):496. doi: 10.1186/s12859-019-3026-8. BMC Bioinformatics. 2019. PMID: 31615419 Free PMC article.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN. Köhler S, et al. Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105. Nucleic Acids Res. 2019. PMID: 30476213 Free PMC article.
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.
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Köhler S, Øien NC, Buske OJ, Groza T, Jacobsen JOB, McNamara C, Vasilevsky N, Carmody LC, Gourdine JP, Gargano M, McMurry JA, Danis D, Mungall CJ, Smedley D, Haendel M, Robinson PN. Köhler S, et al. Curr Protoc Hum Genet. 2019 Sep;103(1):e92. doi: 10.1002/cphg.92. Curr Protoc Hum Genet. 2019. PMID: 31479590 Free PMC article.
132 results
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