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 *

142 related articles for article (PubMed ID: 34906463)

  • 1. Accurate assignment of disease liability to genetic variants using only population data.
    Collaco JM; Raraigh KS; Betz J; Aksit MA; Blau N; Brown J; Dietz HC; MacCarrick G; Nogee LM; Sheridan MB; Vernon HJ; Beaty TH; Louis TA; Cutting GR
    Genet Med; 2022 Jan; 24(1):87-99. PubMed ID: 34906463
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.
    Holland KD; Bouley TM; Horn PS
    Epilepsia; 2017 Jul; 58(7):1190-1198. PubMed ID: 28518218
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions.
    Zhang X; Walsh R; Whiffin N; Buchan R; Midwinter W; Wilk A; Govind R; Li N; Ahmad M; Mazzarotto F; Roberts A; Theotokis PI; Mazaika E; Allouba M; de Marvao A; Pua CJ; Day SM; Ashley E; Colan SD; Michels M; Pereira AC; Jacoby D; Ho CY; Olivotto I; Gunnarsson GT; Jefferies JL; Semsarian C; Ingles J; O'Regan DP; Aguib Y; Yacoub MH; Cook SA; Barton PJR; Bottolo L; Ware JS
    Genet Med; 2021 Jan; 23(1):69-79. PubMed ID: 33046849
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanding ACMG variant classification guidelines into a general framework.
    Masson E; Zou WB; Génin E; Cooper DN; Le Gac G; Fichou Y; Pu N; Rebours V; Férec C; Liao Z; Chen JM
    Hum Genomics; 2022 Aug; 16(1):31. PubMed ID: 35974416
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Evaluating the use of paralogous protein domains to increase data availability for missense variant classification.
    Gunning AC; Wright CF
    Genome Med; 2023 Dec; 15(1):110. PubMed ID: 38087376
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.
    Sivley RM; Sheehan JH; Kropski JA; Cogan J; Blackwell TS; Phillips JA; Bush WS; Meiler J; Capra JA
    BMC Bioinformatics; 2018 Jan; 19(1):18. PubMed ID: 29361909
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
    Dines JN; Shirts BH; Slavin TP; Walsh T; King MC; Fowler DM; Pritchard CC
    Genet Med; 2020 May; 22(5):825-830. PubMed ID: 31911673
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.
    Min BJ; Kang YK; Chung YG; Seo ME; Chang KB; Joo MW
    Clin Orthop Relat Res; 2020 Nov; 478(11):2442-2450. PubMed ID: 32281771
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.
    Karabachev AD; Martini DJ; Hermel DJ; Solcz D; Richardson ME; Pesaran T; Sarkar IN; Greenblatt MS
    PLoS One; 2020; 15(8):e0233673. PubMed ID: 32750050
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
    Walsh R; Mazzarotto F; Whiffin N; Buchan R; Midwinter W; Wilk A; Li N; Felkin L; Ingold N; Govind R; Ahmad M; Mazaika E; Allouba M; Zhang X; de Marvao A; Day SM; Ashley E; Colan SD; Michels M; Pereira AC; Jacoby D; Ho CY; Thomson KL; Watkins H; Barton PJR; Olivotto I; Cook SA; Ware JS
    Genome Med; 2019 Jan; 11(1):5. PubMed ID: 30696458
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Bayesian framework for efficient and accurate variant prediction.
    Qian D; Li S; Tian Y; Clifford JW; Sarver BAJ; Pesaran T; Gau CL; Elliott AM; Lu HM; Black MH
    PLoS One; 2018; 13(9):e0203553. PubMed ID: 30212499
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identifying Mendelian disease genes with the variant effect scoring tool.
    Carter H; Douville C; Stenson PD; Cooper DN; Karchin R
    BMC Genomics; 2013; 14 Suppl 3(Suppl 3):S3. PubMed ID: 23819870
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
    Raraigh KS; Han ST; Davis E; Evans TA; Pellicore MJ; McCague AF; Joynt AT; Lu Z; Atalar M; Sharma N; Sheridan MB; Sosnay PR; Cutting GR
    Am J Hum Genet; 2018 Jun; 102(6):1062-1077. PubMed ID: 29805046
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity.
    Li S; Qian D; Thompson BA; Gutierrez S; Wu S; Pesaran T; LaDuca H; Lu HM; Chao EC; Black MH
    J Med Genet; 2020 Jan; 57(1):62-69. PubMed ID: 31391288
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. DARVIC: Dihedral angle-reliant variant impact classifier for functional prediction of missense VUS.
    Lagniton PNP; Tam B; Wang SM
    Comput Methods Programs Biomed; 2023 Aug; 238():107596. PubMed ID: 37201251
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.
    Sasorith S; Baux D; Bergougnoux A; Paulet D; Lahure A; Bareil C; Taulan-Cadars M; Roux AF; Koenig M; Claustres M; Raynal C
    Hum Mutat; 2020 Feb; 41(2):375-386. PubMed ID: 31674704
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.
    Accetturo M; D'Uggento AM; Portincasa P; Stella A
    Rheumatology (Oxford); 2020 Apr; 59(4):754-761. PubMed ID: 31411330
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.