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Results: 1 to 20 of 221

1.

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. Print 2015.

2.

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 Mar 16. doi: 10.1002/humu.22791. [Epub ahead of print]

PMID:
25777788
3.

PON-P2: prediction method for fast and reliable identification of harmful variants.

Niroula A, Urolagin S, Vihinen M.

PLoS One. 2015 Feb 3;10(2):e0117380. doi: 10.1371/journal.pone.0117380. eCollection 2015.

4.

Types and effects of protein variations.

Vihinen M.

Hum Genet. 2015 Apr;134(4):405-21. doi: 10.1007/s00439-015-1529-6. Epub 2015 Jan 24.

PMID:
25616435
5.

Finding our way through phenotypes.

Deans AR, Lewis SE, Huala E, Anzaldo SS, Ashburner M, Balhoff JP, Blackburn DC, Blake JA, Burleigh JG, Chanet B, Cooper LD, Courtot M, Csösz S, Cui H, Dahdul W, Das S, Dececchi TA, Dettai A, Diogo R, Druzinsky RE, Dumontier M, Franz NM, Friedrich F, Gkoutos GV, Haendel M, Harmon LJ, Hayamizu TF, He Y, Hines HM, Ibrahim N, Jackson LM, Jaiswal P, James-Zorn C, Köhler S, Lecointre G, Lapp H, Lawrence CJ, Le Novère N, Lundberg JG, Macklin J, Mast AR, Midford PE, Mikó I, Mungall CJ, Oellrich A, Osumi-Sutherland D, Parkinson H, Ramírez MJ, Richter S, Robinson PN, Ruttenberg A, Schulz KS, Segerdell E, Seltmann KC, Sharkey MJ, Smith AD, Smith B, Specht CD, Squires RB, Thacker RW, Thessen A, Fernandez-Triana J, Vihinen M, Vize PD, Vogt L, Wall CE, Walls RL, Westerfeld M, Wharton RA, Wirkner CS, Woolley JB, Yoder MJ, Zorn AM, Mabee P.

PLoS Biol. 2015 Jan 6;13(1):e1002033. doi: 10.1371/journal.pbio.1002033. eCollection 2015 Jan.

6.

VariSNP, a benchmark database for variations from dbSNP.

Schaafsma GC, Vihinen M.

Hum Mutat. 2015 Feb;36(2):161-6. doi: 10.1002/humu.22727. Epub 2015 Jan 8.

PMID:
25385275
7.

Proper reporting of predictor performance.

Vihinen M.

Nat Methods. 2014 Aug;11(8):781. doi: 10.1038/nmeth.3032. No abstract available.

PMID:
25075900
8.

Clustering of gene ontology terms in genomes.

Tiirikka T, Siermala M, Vihinen M.

Gene. 2014 Oct 25;550(2):155-64. doi: 10.1016/j.gene.2014.06.060. Epub 2014 Jul 1.

PMID:
24995610
9.

Majority vote and other problems when using computational tools.

Vihinen M.

Hum Mutat. 2014 Aug;35(8):912-4. doi: 10.1002/humu.22600. Epub 2014 Jun 28.

PMID:
24915749
10.

Contribution of pseudogenes to sequence diversity.

Vihinen M.

Methods Mol Biol. 2014;1167:15-24. doi: 10.1007/978-1-4939-0835-6_2. Review.

PMID:
24823768
11.

Performance of protein disorder prediction programs on amino acid substitutions.

Ali H, Urolagin S, Gurarslan Ö, Vihinen M.

Hum Mutat. 2014 Jul;35(7):794-804. doi: 10.1002/humu.22564. Epub 2014 May 21.

PMID:
24753228
12.

Variation ontology: annotator guide.

Vihinen M.

J Biomed Semantics. 2014 Feb 17;5(1):9. doi: 10.1186/2041-1480-5-9.

13.

Identification of core T cell network based on immunome interactome.

Teku GN, Ortutay C, Vihinen M.

BMC Syst Biol. 2014 Feb 15;8:17. doi: 10.1186/1752-0509-8-17.

14.

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML.

Am J Med Genet A. 2014 Mar;164A(3):579-87. doi: 10.1002/ajmg.a.36313. Epub 2013 Dec 19.

PMID:
24357598
15.

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

Lee YN, Frugoni F, Dobbs K, Walter JE, Giliani S, Gennery AR, Al-Herz W, Haddad E, LeDeist F, Bleesing JH, Henderson LA, Pai SY, Nelson RP, El-Ghoneimy DH, El-Feky RA, Reda SM, Hossny E, Soler-Palacin P, Fuleihan RL, Patel NC, Massaad MJ, Geha RS, Puck JM, Palma P, Cancrini C, Chen K, Vihinen M, Alt FW, Notarangelo LD.

J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28.

16.

Proteomic changes during B cell maturation: 2D-DIGE approach.

Salonen J, Rönnholm G, Kalkkinen N, Vihinen M.

PLoS One. 2013 Oct 29;8(10):e77894. doi: 10.1371/journal.pone.0077894. eCollection 2013.

17.

Variation Ontology for annotation of variation effects and mechanisms.

Vihinen M.

Genome Res. 2014 Feb;24(2):356-64. doi: 10.1101/gr.157495.113. Epub 2013 Oct 25.

18.

Gene expression profiles in human and mouse primary cells provide new insights into the differential actions of vitamin D3 metabolites.

Tuohimaa P, Wang JH, Khan S, Kuuslahti M, Qian K, Manninen T, Auvinen P, Vihinen M, Lou YR.

PLoS One. 2013 Oct 8;8(10):e75338. doi: 10.1371/journal.pone.0075338. eCollection 2013. Erratum in: PLoS One. 2013;8(11). doi:10.1371/annotation/9cb2000b-a962-453c-ad8b-088f91095f6d.

19.

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.

PLoS One. 2013 Aug 13;8(8):e71802. doi: 10.1371/journal.pone.0071802. eCollection 2013.

20.

Guidelines for reporting and using prediction tools for genetic variation analysis.

Vihinen M.

Hum Mutat. 2013 Feb;34(2):275-82. doi: 10.1002/humu.22253. Epub 2013 Jan 18.

PMID:
23169447
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