These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

332 related articles for article (PubMed ID: 29370821)

  • 1. PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases.
    Adler A; Kirchmeier P; Reinhard J; Brauner B; Dunger I; Fobo G; Frishman G; Montrone C; Mewes HW; Arnold M; Ruepp A
    Orphanet J Rare Dis; 2018 Jan; 13(1):22. PubMed ID: 29370821
    [TBL] [Abstract][Full Text] [Related]  

  • 2. HPO2Vec+: Leveraging heterogeneous knowledge resources to enrich node embeddings for the Human Phenotype Ontology.
    Shen F; Peng S; Fan Y; Wen A; Liu S; Wang Y; Wang L; Liu H
    J Biomed Inform; 2019 Aug; 96():103246. PubMed ID: 31255713
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An ontological foundation for ocular phenotypes and rare eye diseases.
    Sergouniotis PI; Maxime E; Leroux D; Olry A; Thompson R; Rath A; Robinson PN; Dollfus H;
    Orphanet J Rare Dis; 2019 Jan; 14(1):8. PubMed ID: 30626441
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genotype-based databases for variants causing rare diseases.
    Lanthaler B; Wieser S; Deutschmann A; Schossig A; Fauth C; Zschocke J; Witsch-Baumgartner M
    Gene; 2014 Oct; 550(1):136-40. PubMed ID: 25111118
    [TBL] [Abstract][Full Text] [Related]  

  • 5. mGAP: the macaque genotype and phenotype resource, a framework for accessing and interpreting macaque variant data, and identifying new models of human disease.
    Bimber BN; Yan MY; Peterson SM; Ferguson B
    BMC Genomics; 2019 Mar; 20(1):176. PubMed ID: 30841849
    [TBL] [Abstract][Full Text] [Related]  

  • 6. RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases.
    Töpel T; Scheible D; Trefz F; Hofestädt R
    Hum Mutat; 2010 Jan; 31(1):E1081-8. PubMed ID: 19953641
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The Human Phenotype Ontology in 2017.
    Köhler S; Vasilevsky NA; Engelstad M; Foster E; McMurry J; Aymé S; Baynam G; Bello SM; Boerkoel CF; Boycott KM; Brudno M; Buske OJ; Chinnery PF; Cipriani V; Connell LE; Dawkins HJ; DeMare LE; Devereau AD; de Vries BB; Firth HV; Freson K; Greene D; Hamosh A; Helbig I; Hum C; Jähn JA; James R; Krause R; F Laulederkind SJ; Lochmüller H; Lyon GJ; Ogishima S; Olry A; Ouwehand WH; Pontikos N; Rath A; Schaefer F; Scott RH; Segal M; Sergouniotis PI; Sever R; Smith CL; Straub V; Thompson R; Turner C; Turro E; Veltman MW; Vulliamy T; Yu J; von Ziegenweidt J; Zankl A; Züchner S; Zemojtel T; Jacobsen JO; Groza T; Smedley D; Mungall CJ; Haendel M; Robinson PN
    Nucleic Acids Res; 2017 Jan; 45(D1):D865-D876. PubMed ID: 27899602
    [TBL] [Abstract][Full Text] [Related]  

  • 8. eRAM: encyclopedia of rare disease annotations for precision medicine.
    Jia J; An Z; Ming Y; Guo Y; Li W; Liang Y; Guo D; Li X; Tai J; Chen G; Jin Y; Liu Z; Ni X; Shi T
    Nucleic Acids Res; 2018 Jan; 46(D1):D937-D943. PubMed ID: 29106618
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Harmonising phenomics information for a better interoperability in the rare disease field.
    Maiella S; Olry A; Hanauer M; Lanneau V; Lourghi H; Donadille B; Rodwell C; Köhler S; Seelow D; Jupp S; Parkinson H; Groza T; Brudno M; Robinson PN; Rath A
    Eur J Med Genet; 2018 Nov; 61(11):706-714. PubMed ID: 29425702
    [TBL] [Abstract][Full Text] [Related]  

  • 10. RAMEDIS: the rare metabolic diseases database.
    Töpel T; Hofestädt R; Scheible D; Trefz F
    Appl Bioinformatics; 2006; 5(2):115-8. PubMed ID: 16722776
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prot2HG: a database of protein domains mapped to the human genome.
    Stanek D; Bis-Brewer DM; Saghira C; Danzi MC; Seeman P; Lassuthova P; Zuchner S
    Database (Oxford); 2020 Jan; 2020():. PubMed ID: 32293014
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    Nucleic Acids Res; 2019 Jan; 47(D1):D1018-D1027. PubMed ID: 30476213
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The biological coherence of human phenome databases.
    Oti M; Huynen MA; Brunner HG
    Am J Hum Genet; 2009 Dec; 85(6):801-8. PubMed ID: 20004759
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases.
    Díaz-Santiago E; Jabato FM; Rojano E; Seoane P; Pazos F; Perkins JR; Ranea JAG
    PLoS Genet; 2020 Oct; 16(10):e1009054. PubMed ID: 33001999
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
    Köhler S; Doelken SC; Mungall CJ; Bauer S; Firth HV; Bailleul-Forestier I; Black GC; Brown DL; Brudno M; Campbell J; FitzPatrick DR; Eppig JT; Jackson AP; Freson K; Girdea M; Helbig I; Hurst JA; Jähn J; Jackson LG; Kelly AM; Ledbetter DH; Mansour S; Martin CL; Moss C; Mumford A; Ouwehand WH; Park SM; Riggs ER; Scott RH; Sisodiya S; Van Vooren S; Wapner RJ; Wilkie AO; Wright CF; Vulto-van Silfhout AT; de Leeuw N; de Vries BB; Washingthon NL; Smith CL; Westerfield M; Schofield P; Ruef BJ; Gkoutos GV; Haendel M; Smedley D; Lewis SE; Robinson PN
    Nucleic Acids Res; 2014 Jan; 42(Database issue):D966-74. PubMed ID: 24217912
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
    Thompson R; Papakonstantinou Ntalis A; Beltran S; Töpf A; de Paula Estephan E; Polavarapu K; 't Hoen PAC; Missier P; Lochmüller H
    Hum Mutat; 2019 Oct; 40(10):1797-1812. PubMed ID: 31231902
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Ontological phenotype standards for neurogenetics.
    Köhler S; Doelken SC; Rath A; Aymé S; Robinson PN
    Hum Mutat; 2012 Sep; 33(9):1333-9. PubMed ID: 22573485
    [TBL] [Abstract][Full Text] [Related]  

  • 18. PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.
    Fujiwara T; Yamamoto Y; Kim JD; Buske O; Takagi T
    Am J Hum Genet; 2018 Sep; 103(3):389-399. PubMed ID: 30173820
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
    Fang H; Wu Y; Yang H; Yoon M; Jiménez-Barrón LT; Mittelman D; Robison R; Wang K; Lyon GJ
    BMC Med Genomics; 2017 Feb; 10(1):10. PubMed ID: 28228131
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [From symptom to syndrome using modern software support].
    Köhler S
    Internist (Berl); 2018 Aug; 59(8):766-775. PubMed ID: 29995249
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.