BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

162 related articles for article (PubMed ID: 31808782)

  • 1. Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases.
    Michels M; Matte U; Fraga LR; Mancuso ACB; Ligabue-Braun R; Berneira EFR; Siebert M; Sanseverino MTV
    Genet Mol Biol; 2019; 42(3):560-570. PubMed ID: 31808782
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
    McDonald EF; Oliver KE; Schlebach JP; Meiler J; Plate L
    bioRxiv; 2024 Jan; ():. PubMed ID: 37873426
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A Novel Pathogenic Variant of the
    Arslan AB; Zamani AG; Pekcan S; Yıldırım MS
    J Pediatr Genet; 2020 Mar; 9(1):40-43. PubMed ID: 31976142
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses.
    Sosnay PR; Salinas DB; White TB; Ren CL; Farrell PM; Raraigh KS; Girodon E; Castellani C
    J Pediatr; 2017 Feb; 181S():S27-S32.e1. PubMed ID: 28129809
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.
    Hannah WB; Truty R; Gonzales V; Kithcart GP; Ouyang K; Zeman MK; Li C; Drumm M; Nykamp K; Gaston BM
    J Pediatr; 2019 Dec; 215():172-177.e2. PubMed ID: 31610925
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome.
    Mohammed EEA; Fayez AG; Abdelfattah NM; Fateen E
    Sci Rep; 2024 May; 14(1):12148. PubMed ID: 38802532
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
    Han ST; Rab A; Pellicore MJ; Davis EF; McCague AF; Evans TA; Joynt AT; Lu Z; Cai Z; Raraigh KS; Hong JS; Sheppard DN; Sorscher EJ; Cutting GR
    JCI Insight; 2018 Jul; 3(14):. PubMed ID: 30046002
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of AlphaMissense data in different protein groups and structural context.
    Tordai H; Torres O; Csepi M; Padányi R; Lukács GL; Hegedűs T
    Sci Data; 2024 May; 11(1):495. PubMed ID: 38744964
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation.
    Farrell PM; White TB; Ren CL; Hempstead SE; Accurso F; Derichs N; Howenstine M; McColley SA; Rock M; Rosenfeld M; Sermet-Gaudelus I; Southern KW; Marshall BC; Sosnay PR
    J Pediatr; 2017 Feb; 181S():S4-S15.e1. PubMed ID: 28129811
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.
    Giorgi G; Casarin A; Trevisson E; Donà M; Cassina M; Graziano C; Picci L; Clementi M; Salviati L
    Clin Chem Lab Med; 2015 Oct; 53(11):1719-23. PubMed ID: 25781545
    [TBL] [Abstract][Full Text] [Related]  

  • 20. N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel.
    Gené GG; Llobet A; Larriba S; de Semir D; Martínez I; Escalada A; Solsona C; Casals T; Aran JM
    Hum Mutat; 2008 May; 29(5):738-49. PubMed ID: 18306312
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.