BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

223 related articles for article (PubMed ID: 31674704)

  • 1. 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]  

  • 2. Application of DETECTER, an evolutionary genomic tool to analyze genetic variation, to the cystic fibrosis gene family.
    Gaucher EA; De Kee DW; Benner SA
    BMC Genomics; 2006 Mar; 7():44. PubMed ID: 16522197
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
    Claustres M; Thèze C; des Georges M; Baux D; Girodon E; Bienvenu T; Audrezet MP; Dugueperoux I; Férec C; Lalau G; Pagin A; Kitzis A; Thoreau V; Gaston V; Bieth E; Malinge MC; Reboul MP; Fergelot P; Lemonnier L; Mekki C; Fanen P; Bergougnoux A; Sasorith S; Raynal C; Bareil C
    Hum Mutat; 2017 Oct; 38(10):1297-1315. PubMed ID: 28603918
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants.
    Masica DL; Karchin R
    PLoS Comput Biol; 2016 May; 12(5):e1004725. PubMed ID: 27171182
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.
    Masica DL; Sosnay PR; Cutting GR; Karchin R
    Hum Mutat; 2012 Aug; 33(8):1267-74. PubMed ID: 22573477
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.
    Pereira SV; Ribeiro JD; Ribeiro AF; Bertuzzo CS; Marson FAL
    Sci Rep; 2019 Apr; 9(1):6234. PubMed ID: 30996306
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
    Lee M; Roos P; Sharma N; Atalar M; Evans TA; Pellicore MJ; Davis E; Lam AN; Stanley SE; Khalil SE; Solomon GM; Walker D; Raraigh KS; Vecchio-Pagan B; Armanios M; Cutting GR
    Am J Hum Genet; 2017 May; 100(5):751-765. PubMed ID: 28475858
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pitfalls in the interpretation of CFTR variants in the context of incidental findings.
    Boussaroque A; Bergougnoux A; Raynal C; Audrézet MP; Sasorith S; Férec C; Bienvenu T; Girodon E
    Hum Mutat; 2019 Dec; 40(12):2239-2246. PubMed ID: 31350925
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.
    Poulou M; Fylaktou I; Fotoulaki M; Kanavakis E; Tzetis M
    J Cyst Fibros; 2012 Jul; 11(4):344-8. PubMed ID: 22326559
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Structural dynamics is a determinant of the functional significance of missense variants.
    Ponzoni L; Bahar I
    Proc Natl Acad Sci U S A; 2018 Apr; 115(16):4164-4169. PubMed ID: 29610305
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
    Dorfman R; Nalpathamkalam T; Taylor C; Gonska T; Keenan K; Yuan XW; Corey M; Tsui LC; Zielenski J; Durie P
    Clin Genet; 2010 May; 77(5):464-73. PubMed ID: 20059485
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
    Chen JM; Cutler C; Jacques C; Boeuf G; Denamur E; Lecointre G; Mercier B; Cramb G; Férec C
    Mol Biol Evol; 2001 Sep; 18(9):1771-88. PubMed ID: 11504857
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
    McDonald EF; Oliver KE; Schlebach JP; Meiler J; Plate L
    PLoS One; 2024; 19(1):e0297560. PubMed ID: 38271453
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evaluation of the disease liability of CFTR variants.
    Sosnay PR; Castellani C; Corey M; Dorfman R; Zielenski J; Karchin R; Penland CM; Cutting GR
    Methods Mol Biol; 2011; 742():355-72. PubMed ID: 21547743
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Transformative therapies for rare CFTR missense alleles.
    Oliver KE; Han ST; Sorscher EJ; Cutting GR
    Curr Opin Pharmacol; 2017 Jun; 34():76-82. PubMed ID: 29032041
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.
    Masica DL; Sosnay PR; Raraigh KS; Cutting GR; Karchin R
    Hum Mol Genet; 2015 Apr; 24(7):1908-17. PubMed ID: 25489051
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Spectrum of CFTR gene sequence variants in a northern Portugal population.
    Grangeia A; Alves S; Gonçalves L; Gregório I; Santos AC; Barros H; Barros A; Carvalho F; Moura C
    Pulmonology; 2018; 24(1):3-9. PubMed ID: 29589582
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.
    Grimm DG; Azencott CA; Aicheler F; Gieraths U; MacArthur DG; Samocha KE; Cooper DN; Stenson PD; Daly MJ; Smoller JW; Duncan LE; Borgwardt KM
    Hum Mutat; 2015 May; 36(5):513-23. PubMed ID: 25684150
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.