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Results: 1 to 20 of 217

1.

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.

PMID:
25562316
[PubMed - in process]
Free PMC Article
2.

Varisnp, A Benchmark Database For Variations from dbSNP.

Schaafsma GC, Vihinen M.

Hum Mutat. 2014 Nov 11. doi: 10.1002/humu.22727. [Epub ahead of print]

PMID:
25385275
[PubMed - as supplied by publisher]
3.

Proper reporting of predictor performance.

Vihinen M.

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

PMID:
25075900
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - in process]
6.

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
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
8.

Variation ontology: annotator guide.

Vihinen M.

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

PMID:
24533660
[PubMed]
Free PMC Article
9.

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.

PMID:
24528953
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
24290284
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
24205016
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
24162187
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
24116037
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
23967248
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
[PubMed - indexed for MEDLINE]
17.

Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.

Aspatwar A, Tolvanen ME, Jokitalo E, Parikka M, Ortutay C, Harjula SK, Rämet M, Vihinen M, Parkkila S.

Hum Mol Genet. 2013 Feb 1;22(3):417-32. doi: 10.1093/hmg/dds438. Epub 2012 Oct 18.

PMID:
23087022
[PubMed - indexed for MEDLINE]
Free Article
18.

Structure-based prediction of the effects of a missense variant on protein stability.

Yang Y, Chen B, Tan G, Vihinen M, Shen B.

Amino Acids. 2013 Mar;44(3):847-55. doi: 10.1007/s00726-012-1407-7. Epub 2012 Oct 12.

PMID:
23064876
[PubMed - indexed for MEDLINE]
19.

VarioML framework for comprehensive variation data representation and exchange.

Byrne M, Fokkema IF, Lancaster O, Adamusiak T, Ahonen-Bishopp A, Atlan D, Béroud C, Cornell M, Dalgleish R, Devereau A, Patrinos GP, Swertz MA, Taschner PE, Thorisson GA, Vihinen M, Brookes AJ, Muilu J.

BMC Bioinformatics. 2012 Oct 3;13:254. doi: 10.1186/1471-2105-13-254.

PMID:
23031277
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

VariBench: a benchmark database for variations.

Sasidharan Nair P, Vihinen M.

Hum Mutat. 2013 Jan;34(1):42-9. doi: 10.1002/humu.22204. Epub 2012 Oct 11.

PMID:
22903802
[PubMed - indexed for MEDLINE]
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