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 *

188 related articles for article (PubMed ID: 34350656)

  • 1. A domain damage index to prioritizing the pathogenicity of missense variants.
    Chen HC; Wang J; Liu Q; Shyr Y
    Hum Mutat; 2021 Nov; 42(11):1503-1517. PubMed ID: 34350656
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
    Thai MHN; Gardner A; Redpath L; Mattiske T; Dearsley O; Shaw M; Vulto-van Silfhout AT; Pfundt R; Dixon J; McGaughran J; Pérez-Jurado LA; Gécz J; Shoubridge C
    Hum Mutat; 2020 Aug; 41(8):1407-1424. PubMed ID: 32383243
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Impact of the Mutational Landscape of the Sodium/Iodide Symporter in Congenital Hypothyroidism.
    Martín M; Nicola JP
    Thyroid; 2021 Dec; 31(12):1776-1785. PubMed ID: 34514854
    [No Abstract]   [Full Text] [Related]  

  • 8. MVP predicts the pathogenicity of missense variants by deep learning.
    Qi H; Zhang H; Zhao Y; Chen C; Long JJ; Chung WK; Guan Y; Shen Y
    Nat Commun; 2021 Jan; 12(1):510. PubMed ID: 33479230
    [TBL] [Abstract][Full Text] [Related]  

  • 9. KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses.
    Ying Y; Lu L; Banerjee S; Xu L; Zhao Q; Wu H; Li R; Xu X; Yu H; Neculai D; Xi Y; Yang F; Qin J; Li C
    Hum Genomics; 2020 Dec; 14(1):45. PubMed ID: 33287903
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
    Zhao H; Du H; Zhao S; Chen Z; Li Y; Xu K; Liu B; Cheng X; Wen W; Li G; Chen G; Zhao Z; Qiu G; ; Liu P; Zhang TJ; Wu Z; Wu N
    Cell Rep Methods; 2024 Jan; 4(1):100687. PubMed ID: 38211594
    [TBL] [Abstract][Full Text] [Related]  

  • 12. An expanded phenotype centric benchmark of variant prioritisation tools.
    Anderson D; Lassmann T
    Hum Mutat; 2022 May; 43(5):539-546. PubMed ID: 35224813
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Pathogenic missense protein variants affect different functional pathways and proteomic features than healthy population variants.
    Laddach A; Ng JCF; Fraternali F
    PLoS Biol; 2021 Apr; 19(4):e3001207. PubMed ID: 33909605
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Functional Analyses of Rare Germline Missense
    Hovland HN; Mchaina EK; Høberg-Vetti H; Ariansen SL; Sjursen W; Van Ghelue M; Haukanes BI; Knappskog PM; Aukrust I; Ognedal E
    Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833189
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner.
    Zeng B; Liu DC; Huang JG; Xia XB; Qin B
    Hum Genet; 2024 Mar; 143(3):331-342. PubMed ID: 38478153
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Differential Domain Distribution of gnomAD- and Disease-Linked Connexin Missense Variants.
    Bai D; Wang J; Li T; Chan R; Atalla M; Chen RC; Khazaneh MT; An RJ; Stathopulos PB
    Int J Mol Sci; 2021 Jul; 22(15):. PubMed ID: 34360596
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
    Quinodoz M; Peter VG; Cisarova K; Royer-Bertrand B; Stenson PD; Cooper DN; Unger S; Superti-Furga A; Rivolta C
    Am J Hum Genet; 2022 Mar; 109(3):457-470. PubMed ID: 35120630
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.