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Items: 1 to 20 of 239

1.

PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.

Niroula A, Vihinen M.

Hum Mutat. 2017 Feb 22. doi: 10.1002/humu.23199. [Epub ahead of print]

PMID:
28224672
2.

One Gene, Several Diseases: The Characteristics of Pleiotropic Proteins.

Vihinen M.

Hum Mutat. 2017 Mar;38(3):241. doi: 10.1002/humu.23180. No abstract available.

PMID:
28178384
3.

Predicting Severity of Disease-Causing Variants.

Niroula A, Vihinen M.

Hum Mutat. 2017 Jan 9. doi: 10.1002/humu.23173. [Epub ahead of print]

PMID:
28070986
4.

Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies.

Viennas E, Komianou A, Mizzi C, Stojiljkovic M, Mitropoulou C, Muilu J, Vihinen M, Grypioti P, Papadaki S, Pavlidis C, Zukic B, Katsila T, van der Spek PJ, Pavlovic S, Tzimas G, Patrinos GP.

Nucleic Acids Res. 2017 Jan 4;45(D1):D846-D853. doi: 10.1093/nar/gkw949.

5.

How to Define Pathogenicity, Health, and Disease?

Vihinen M.

Hum Mutat. 2017 Feb;38(2):129-136. doi: 10.1002/humu.23144.

PMID:
27862583
6.

Establishment of an international database for genetic variants in esophageal cancer.

Vihinen M.

Ann N Y Acad Sci. 2016 Oct;1381(1):45-49. doi: 10.1111/nyas.13152.

PMID:
27442983
7.

Both Generic and Protein-Specific Tolerance Predictors Are Needed.

Vihinen M.

Hum Mutat. 2016 Oct;37(10):989. doi: 10.1002/humu.23069. No abstract available.

PMID:
27623403
8.

Substitution scanning identifies a novel, catalytically active ibrutinib-resistant BTK cysteine 481 to threonine (C481T) variant.

Hamasy A, Wang Q, Blomberg KE, Mohammad DK, Yu L, Vihinen M, Berglöf A, Smith CI.

Leukemia. 2017 Jan;31(1):177-185. doi: 10.1038/leu.2016.153.

9.

PON-Sol: prediction of effects of amino acid substitutions on protein solubility.

Yang Y, Niroula A, Shen B, Vihinen M.

Bioinformatics. 2016 Jul 1;32(13):2032-4. doi: 10.1093/bioinformatics/btw066.

PMID:
27153720
10.

Variation Interpretation Predictors: Principles, Types, Performance, and Choice.

Niroula A, Vihinen M.

Hum Mutat. 2016 Jun;37(6):579-97. doi: 10.1002/humu.22987. Review.

PMID:
26987456
11.

Human Variome Project Quality Assessment Criteria for Variation Databases.

Vihinen M, Hancock JM, Maglott DR, Landrum MJ, Schaafsma GC, Taschner P.

Hum Mutat. 2016 Jun;37(6):549-58. doi: 10.1002/humu.22976.

PMID:
26919176
12.

PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations.

Niroula A, Vihinen M.

Nucleic Acids Res. 2016 Mar 18;44(5):2020-7. doi: 10.1093/nar/gkw046.

13.

VariOtator, a Software Tool for Variation Annotation with the Variation Ontology.

Schaafsma GC, Vihinen M.

Hum Mutat. 2016 Apr;37(4):344-9. doi: 10.1002/humu.22954.

PMID:
26773573
14.

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Niroula A, Vihinen M.

Hum Mutat. 2015 Dec;36(12):1128-34. doi: 10.1002/humu.22900.

PMID:
26333163
15.

Harmful somatic amino acid substitutions affect key pathways in cancers.

Niroula A, Vihinen M.

BMC Med Genomics. 2015 Aug 19;8:53. doi: 10.1186/s12920-015-0125-x.

16.

Specific autoantibody profiles and disease subgroups correlate with circulating micro-RNA in systemic sclerosis.

Wuttge DM, Carlsen AL, Teku G, Steen SO, Wildt M, Vihinen M, Hesselstrand R, Heegaard NH.

Rheumatology (Oxford). 2015 Nov;54(11):2100-7. doi: 10.1093/rheumatology/kev234.

PMID:
26163687
17.

Muddled genetic terms miss and mess the message.

Vihinen M.

Trends Genet. 2015 Aug;31(8):423-5. doi: 10.1016/j.tig.2015.05.008. Review.

PMID:
26091961
18.

No more hidden solutions in bioinformatics.

Vihinen M.

Nature. 2015 May 21;521(7552):261. doi: 10.1038/521261a. No abstract available.

PMID:
25993922
19.

Standard development at the Human Variome Project.

Smith TD, Vihinen M; Human Variome Project..

Database (Oxford). 2015 Mar 27;2015. pii: bav024. doi: 10.1093/database/bav024.

20.

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.

Hum Mutat. 2015 Jun;36(6):638-47. doi: 10.1002/humu.22791.

PMID:
25777788
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