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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.
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.
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.
16 results