Thusberg J - Search Results

1

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

2

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.

3

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

4

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.

5

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

6

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

7

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

8

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.

9

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.

10

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Ackerman C, Locke AE, Feingold E, Reshey B, Espana K, Thusberg J, Mooney S, Bean LJ, Dooley KJ, Cua CL, Reeves RH, Sherman SL, Maslen CL. Ackerman C, et al. Among authors: thusberg j. Am J Hum Genet. 2012 Oct 5;91(4):646-59. doi: 10.1016/j.ajhg.2012.08.017. Am J Hum Genet. 2012. PMID: 23040494 Free PMC article.

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