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 *

159 related articles for article (PubMed ID: 33300982)

  • 1. Prioritizing genes for systematic variant effect mapping.
    Kuang D; Truty R; Weile J; Johnson B; Nykamp K; Araya C; Nussbaum RL; Roth FP
    Bioinformatics; 2021 Apr; 36(22-23):5448-5455. PubMed ID: 33300982
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Multi-objective prioritization of genes for high-throughput functional assays towards improved clinical variant classification.
    Chen Y; Jain S; Zeiberg D; Iakoucheva LM; Mooney SD; Radivojac P; Pejaver V
    Pac Symp Biocomput; 2023; 28():323-334. PubMed ID: 36540988
    [TBL] [Abstract][Full Text] [Related]  

  • 3. MaveQuest: a web resource for planning experimental tests of human variant effects.
    Kuang D; Weile J; Li R; Ouellette TW; Barber JA; Roth FP
    Bioinformatics; 2020 Jun; 36(12):3938-3940. PubMed ID: 32251504
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MaveRegistry: a collaboration platform for multiplexed assays of variant effect.
    Kuang D; Weile J; Kishore N; Nguyen M; Rubin AF; Fields S; Fowler DM; Roth FP
    Bioinformatics; 2021 Oct; 37(19):3382-3383. PubMed ID: 33774657
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A web application and service for imputing and visualizing missense variant effect maps.
    Wu Y; Weile J; Cote AG; Sun S; Knapp J; Verby M; Roth FP
    Bioinformatics; 2019 Sep; 35(17):3191-3193. PubMed ID: 30649215
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Multimodal framework to resolve variants of uncertain significance in
    Biar CG; Pfeifer C; Carvill GL; Calhoun JD
    bioRxiv; 2024 Jun; ():. PubMed ID: 38895336
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.
    Baudhuin LM; Kluge ML; Kotzer KE; Lagerstedt SA
    Eur J Hum Genet; 2019 Oct; 27(10):1550-1560. PubMed ID: 31227806
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Variant Score Ranker-a web application for intuitive missense variant prioritization.
    Du J; Sudarsanam M; Pérez-Palma E; Ganna A; Francioli L; Iqbal S; Niestroj LM; Leu C; Weisburd B; Poterba T; Nürnberg P; Daly MJ; Palotie A; May P; Lal D
    Bioinformatics; 2019 Nov; 35(21):4478-4479. PubMed ID: 31086968
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.
    Fayer S; Horton C; Dines JN; Rubin AF; Richardson ME; McGoldrick K; Hernandez F; Pesaran T; Karam R; Shirts BH; Fowler DM; Starita LM
    Am J Hum Genet; 2021 Dec; 108(12):2248-2258. PubMed ID: 34793697
    [TBL] [Abstract][Full Text] [Related]  

  • 10. RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature.
    Baker EK; Han J; Langley WA; Reott MA; Hallinan BE; Hopkin RJ; Zhang W
    Mol Genet Genomics; 2023 Sep; 298(5):1185-1199. PubMed ID: 37340120
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C.
    Pricolo MR; Herrero-Galán E; Mazzaccara C; Losi MA; Alegre-Cebollada J; Frisso G
    J Cardiovasc Transl Res; 2020 Oct; 13(5):867-877. PubMed ID: 32034629
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance.
    Giudicessi JR; Lieve KVV; Rohatgi RK; Koca F; Tester DJ; van der Werf C; Martijn Bos J; Wilde AAM; Ackerman MJ
    Circ Genom Precis Med; 2019 May; 12(5):e002510. PubMed ID: 31112425
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Assigning credit where it's due: An information content score to capture the clinical value of Multiplexed Assays of Variant Effect.
    Ranola JMO; Horton C; Pesaran T; Fayer S; Starita LM; Shirts BH
    bioRxiv; 2023 Oct; ():. PubMed ID: 37905042
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.
    Hsu JS; Kwan JS; Pan Z; Garcia-Barcelo MM; Sham PC; Li M
    Bioinformatics; 2016 Oct; 32(20):3065-3071. PubMed ID: 27354691
    [TBL] [Abstract][Full Text] [Related]  

  • 18. CRIMEtoYHU: a new web tool to develop yeast-based functional assays for characterizing cancer-associated missense variants.
    Mercatanti A; Lodovichi S; Cervelli T; Galli A
    FEMS Yeast Res; 2017 Dec; 17(8):. PubMed ID: 29069390
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
    van Loggerenberg W; Sowlati-Hashjin S; Weile J; Hamilton R; Chawla A; Gebbia M; Kishore N; Frésard L; Mustajoki S; Pischik E; Di Pierro E; Barbaro M; Floderus Y; Schmitt C; Gouya L; Colavin A; Nussbaum R; Friesema ECH; Kauppinen R; To-Figueras J; Aarsand AK; Desnick RJ; Garton M; Roth FP
    bioRxiv; 2023 Feb; ():. PubMed ID: 36798224
    [TBL] [Abstract][Full Text] [Related]  

  • 20. tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.
    Wei CH; Phan L; Feltz J; Maiti R; Hefferon T; Lu Z
    Bioinformatics; 2018 Jan; 34(1):80-87. PubMed ID: 28968638
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.