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Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
Thusberg J, Vihinen M. Thusberg J, et al. Hum Mutat. 2009 May;30(5):703-14. doi: 10.1002/humu.20938. Hum Mutat. 2009. PMID: 19267389 Review.
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L, Bakolitsa C, Hu Z, Yu C, Rine J, Dimster-Denk DF, Pandey G, De Baets G, Bromberg Y, Cao C, Capriotti E, Casadio R, Van Durme J, Giollo M, Karchin R, Katsonis P, Leonardi E, Lichtarge O, Martelli PL, Masica D, Mooney SD, Olatubosun A, Radivojac P, Rousseau F, Pal LR, Savojardo C, Schymkowitz J, Thusberg J, Tosatto SCE, Vihinen M, Väliaho J, Repo S, Moult J, Brenner SE, Friedberg I. Kasak L, et al. Among authors: thusberg j. Hum Mutat. 2019 Sep;40(9):1530-1545. doi: 10.1002/humu.23868. Epub 2019 Sep 3. Hum Mutat. 2019. PMID: 31301157 Free PMC article.
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
Thusberg J, Vihinen M. Thusberg J, et al. Hum Mutat. 2006 Dec;27(12):1230-43. doi: 10.1002/humu.20407. Hum Mutat. 2006. PMID: 16986121
Genome wide analysis of pathogenic SH2 domain mutations.
Lappalainen I, Thusberg J, Shen B, Vihinen M. Lappalainen I, et al. Among authors: thusberg j. Proteins. 2008 Aug;72(2):779-92. doi: 10.1002/prot.21970. Proteins. 2008. PMID: 18260110
In silico comparative characterization of pharmacogenomic missense variants.
Li B, Seligman C, Thusberg J, Miller JL, Auer J, Whirl-Carrillo M, Capriotti E, Klein TE, Mooney SD. Li B, et al. Among authors: thusberg j. BMC Genomics. 2014;15 Suppl 4(Suppl 4):S4. doi: 10.1186/1471-2164-15-S4-S4. Epub 2014 May 20. BMC Genomics. 2014. PMID: 25057096 Free PMC article.
Performance of mutation pathogenicity prediction methods on missense variants.
Thusberg J, Olatubosun A, Vihinen M. Thusberg J, et al. Hum Mutat. 2011 Apr;32(4):358-68. doi: 10.1002/humu.21445. Epub 2011 Feb 22. Hum Mutat. 2011. PMID: 21412949
PON-P: integrated predictor for pathogenicity of missense variants.
Olatubosun A, Väliaho J, Härkönen J, Thusberg J, Vihinen M. Olatubosun A, et al. Among authors: thusberg j. Hum Mutat. 2012 Aug;33(8):1166-74. doi: 10.1002/humu.22102. Epub 2012 May 7. Hum Mutat. 2012. PMID: 22505138
The structural basis of hyper IgM deficiency - CD40L mutations.
Thusberg J, Vihinen M. Thusberg J, et al. Protein Eng Des Sel. 2007 Mar;20(3):133-41. doi: 10.1093/protein/gzm004. Epub 2007 Feb 16. Protein Eng Des Sel. 2007. PMID: 17307885
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.
Cai B, Li B, Kiga N, Thusberg J, Bergquist T, Chen YC, Niknafs N, Carter H, Tokheim C, Beleva-Guthrie V, Douville C, Bhattacharya R, Yeo HTG, Fan J, Sengupta S, Kim D, Cline M, Turner T, Diekhans M, Zaucha J, Pal LR, Cao C, Yu CH, Yin Y, Carraro M, Giollo M, Ferrari C, Leonardi E, Tosatto SCE, Bobe J, Ball M, Hoskins RA, Repo S, Church G, Brenner SE, Moult J, Gough J, Stanke M, Karchin R, Mooney SD. Cai B, et al. Among authors: thusberg j. Hum Mutat. 2017 Sep;38(9):1266-1276. doi: 10.1002/humu.23265. Epub 2017 Jun 19. Hum Mutat. 2017. PMID: 28544481 Free PMC article.
Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death.
Fan YM, Karhunen PJ, Levula M, Ilveskoski E, Mikkelsson J, Kajander OA, Järvinen O, Oksala N, Thusberg J, Vihinen M, Salenius JP, Kytömäki L, Soini JT, Laaksonen R, Lehtimäki T. Fan YM, et al. Among authors: thusberg j. Thromb J. 2008 Dec 30;6:17. doi: 10.1186/1477-9560-6-17. Thromb J. 2008. PMID: 19116028 Free PMC article.
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