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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. Among authors: vihinen m. Hum Mutat. 2009 May;30(5):703-14. doi: 10.1002/humu.20938. Hum Mutat. 2009. PMID: 19267389 Review.
copy number variation analysis in familial BRCA1/2-negative Finnish breast and ovarian cancer.
Kuusisto KM, Akinrinade O, Vihinen M, Kankuri-Tammilehto M, Laasanen SL, Schleutker J. Kuusisto KM, et al. Among authors: vihinen m. PLoS One. 2013 Aug 13;8(8):e71802. doi: 10.1371/journal.pone.0071802. eCollection 2013. PLoS One. 2013. PMID: 23967248 Free PMC article.
PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.
Niroula A, Vihinen M. Niroula A, et al. Among authors: vihinen m. Hum Mutat. 2017 Sep;38(9):1085-1091. doi: 10.1002/humu.23199. Epub 2017 May 2. Hum Mutat. 2017. PMID: 28224672 Free PMC article.
VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.
Schaafsma GC, Vihinen M. Schaafsma GC, et al. Among authors: vihinen m. Hum Mutat. 2016 Apr;37(4):344-9. doi: 10.1002/humu.22954. Epub 2016 Feb 4. Hum Mutat. 2016. PMID: 26773573
Guidelines for reporting and using prediction tools for genetic variation analysis.
Vihinen M. Vihinen M. Hum Mutat. 2013 Feb;34(2):275-82. doi: 10.1002/humu.22253. Epub 2013 Jan 18. Hum Mutat. 2013. PMID: 23169447
Structure-based prediction of the effects of a missense variant on protein stability.
Yang Y, Chen B, Tan G, Vihinen M, Shen B. Yang Y, et al. Among authors: vihinen m. Amino Acids. 2013 Mar;44(3):847-55. doi: 10.1007/s00726-012-1407-7. Epub 2012 Oct 12. Amino Acids. 2013. PMID: 23064876
Performance of protein disorder prediction programs on amino acid substitutions.
Ali H, Urolagin S, Gurarslan Ö, Vihinen M. Ali H, et al. Among authors: vihinen m. Hum Mutat. 2014 Jul;35(7):794-804. doi: 10.1002/humu.22564. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24753228
Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases.
Schaafsma GCP, Vihinen M. Schaafsma GCP, et al. Among authors: vihinen m. Hum Mutat. 2017 Jul;38(7):839-848. doi: 10.1002/humu.23236. Epub 2017 May 30. Hum Mutat. 2017. PMID: 28444810
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: vihinen m. 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.
Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.
Väliaho J, Faisal I, Ortutay C, Smith CI, Vihinen M. Väliaho J, et al. Among authors: vihinen m. Hum Mutat. 2015 Jun;36(6):638-47. doi: 10.1002/humu.22791. Epub 2015 Apr 27. Hum Mutat. 2015. PMID: 25777788
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