BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 29775997)

  • 1. Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants.
    Fortuno C; James PA; Young EL; Feng B; Olivier M; Pesaran T; Tavtigian SV; Spurdle AB
    Hum Mutat; 2018 Aug; 39(8):1061-1069. PubMed ID: 29775997
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A quantitative model to predict pathogenicity of missense variants in the TP53 gene.
    Fortuno C; Cipponi A; Ballinger ML; Tavtigian SV; Olivier M; Ruparel V; Haupt Y; Haupt S; Study ISK; Tucker K; Spurdle AB; Thomas DM; James PA
    Hum Mutat; 2019 Jun; 40(6):788-800. PubMed ID: 30840781
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
    Ernst C; Hahnen E; Engel C; Nothnagel M; Weber J; Schmutzler RK; Hauke J
    BMC Med Genomics; 2018 Mar; 11(1):35. PubMed ID: 29580235
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods.
    Mathe E; Olivier M; Kato S; Ishioka C; Hainaut P; Tavtigian SV
    Nucleic Acids Res; 2006; 34(5):1317-25. PubMed ID: 16522644
    [TBL] [Abstract][Full Text] [Related]  

  • 5. REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
    Ioannidis NM; Rothstein JH; Pejaver V; Middha S; McDonnell SK; Baheti S; Musolf A; Li Q; Holzinger E; Karyadi D; Cannon-Albright LA; Teerlink CC; Stanford JL; Isaacs WB; Xu J; Cooney KA; Lange EM; Schleutker J; Carpten JD; Powell IJ; Cussenot O; Cancel-Tassin G; Giles GG; MacInnis RJ; Maier C; Hsieh CL; Wiklund F; Catalona WJ; Foulkes WD; Mandal D; Eeles RA; Kote-Jarai Z; Bustamante CD; Schaid DJ; Hastie T; Ostrander EA; Bailey-Wilson JE; Radivojac P; Thibodeau SN; Whittemore AS; Sieh W
    Am J Hum Genet; 2016 Oct; 99(4):877-885. PubMed ID: 27666373
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed.
    Hicks S; Wheeler DA; Plon SE; Kimmel M
    Hum Mutat; 2011 Jun; 32(6):661-8. PubMed ID: 21480434
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.
    Fortuno C; Pesaran T; Dolinsky J; Yussuf A; McGoldrick K; Tavtigian SV; Goldgar D; Spurdle AB; James PA
    Hum Mutat; 2021 Oct; 42(10):1351-1361. PubMed ID: 34273903
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
    Guidugli L; Shimelis H; Masica DL; Pankratz VS; Lipton GB; Singh N; Hu C; Monteiro ANA; Lindor NM; Goldgar DE; Karchin R; Iversen ES; Couch FJ
    Am J Hum Genet; 2018 Feb; 102(2):233-248. PubMed ID: 29394989
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
    Montenegro LR; Lerário AM; Nishi MY; Jorge AAL; Mendonca BB
    Clinics (Sao Paulo); 2021; 76():e2052. PubMed ID: 33503178
    [TBL] [Abstract][Full Text] [Related]  

  • 10. REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
    Tian Y; Pesaran T; Chamberlin A; Fenwick RB; Li S; Gau CL; Chao EC; Lu HM; Black MH; Qian D
    Sci Rep; 2019 Sep; 9(1):12752. PubMed ID: 31484976
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.
    Terui H; Akagi K; Kawame H; Yura K
    J Biomed Sci; 2013 Apr; 20(1):25. PubMed ID: 23621914
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Association between Predicted Effects of
    Liu Y; Axell O; van Leeuwen T; Konrat R; Kharaziha P; Larsson C; Wright APH; Bajalica-Lagercrantz S
    Int J Mol Sci; 2021 Jun; 22(12):. PubMed ID: 34198491
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Comparison of Pathogenicity Prediction Tools on Somatic Variants.
    Suybeng V; Koeppel F; Harlé A; Rouleau E
    J Mol Diagn; 2020 Dec; 22(12):1383-1392. PubMed ID: 33011441
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Proposition of adjustments to the ACMG-AMP framework for the interpretation of MEN1 missense variants.
    Romanet P; Odou MF; North MO; Saveanu A; Coppin L; Pasmant E; Mohamed A; Goudet P; Borson-Chazot F; Calender A; Béroud C; Lévy N; Giraud S; Barlier A
    Hum Mutat; 2019 Jun; 40(6):661-674. PubMed ID: 30869828
    [TBL] [Abstract][Full Text] [Related]  

  • 15. In-silico Analysis of
    Accetturo M; Bartolomeo N; Stella A
    Int J Mol Sci; 2020 Jan; 21(3):. PubMed ID: 31979111
    [No Abstract]   [Full Text] [Related]  

  • 16. Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.
    Flanagan SE; Patch AM; Ellard S
    Genet Test Mol Biomarkers; 2010 Aug; 14(4):533-7. PubMed ID: 20642364
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
    Leong IU; Stuckey A; Lai D; Skinner JR; Love DR
    BMC Med Genet; 2015 May; 16():34. PubMed ID: 25967940
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.
    Fortuno C; Mester J; Pesaran T; Weitzel JN; Dolinsky J; Yussuf A; McGoldrick K; Garber JE; Savage SA; Khincha PP; Gareth Evans D; Achatz MI; Nichols KE; Maxwell KN; Schiffman JD; Sandoval R; ; James PA; Spurdle AB
    Hum Mutat; 2020 Sep; 41(9):1555-1562. PubMed ID: 32485079
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis.
    Kratz CP; Freycon C; Maxwell KN; Nichols KE; Schiffman JD; Evans DG; Achatz MI; Savage SA; Weitzel JN; Garber JE; Hainaut P; Malkin D
    JAMA Oncol; 2021 Dec; 7(12):1800-1805. PubMed ID: 34709361
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Suspected clonal hematopoiesis as a natural functional assay of TP53 germline variant pathogenicity.
    Fortuno C; McGoldrick K; Pesaran T; Dolinsky J; Hoang L; Weitzel JN; Beshay V; San Leong H; James PA; Spurdle AB
    Genet Med; 2022 Mar; 24(3):673-680. PubMed ID: 34906512
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.