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Items: 20

1.

Genetics in an isolated population like Finland: a different basis for genomic medicine?

Kääriäinen H, Muilu J, Perola M, Kristiansson K.

J Community Genet. 2017 Oct;8(4):319-326. doi: 10.1007/s12687-017-0318-4. Epub 2017 Jul 20.

2.

Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data.

McMurry JA, Juty N, Blomberg N, Burdett T, Conlin T, Conte N, Courtot M, Deck J, Dumontier M, Fellows DK, Gonzalez-Beltran A, Gormanns P, Grethe J, Hastings J, Hériché JK, Hermjakob H, Ison JC, Jimenez RC, Jupp S, Kunze J, Laibe C, Le Novère N, Malone J, Martin MJ, McEntyre JR, Morris C, Muilu J, Müller W, Rocca-Serra P, Sansone SA, Sariyar M, Snoep JL, Soiland-Reyes S, Stanford NJ, Swainston N, Washington N, Williams AR, Wimalaratne SM, Winfree LM, Wolstencroft K, Goble C, Mungall CJ, Haendel MA, Parkinson H.

PLoS Biol. 2017 Jun 29;15(6):e2001414. doi: 10.1371/journal.pbio.2001414. eCollection 2017 Jun.

3.

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. Epub 2016 Oct 18.

4.

The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era.

Polvi A, Linturi H, Varilo T, Anttonen AK, Byrne M, Fokkema IF, Almusa H, Metzidis A, Avela K, Aula P, Kestilä M, Muilu J.

Hum Mutat. 2013 Nov;34(11):1458-66. doi: 10.1002/humu.22389. Epub 2013 Sep 13.

PMID:
23904198
5.

A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.

Surakka I, Whitfield JB, Perola M, Visscher PM, Montgomery GW, Falchi M, Willemsen G, de Geus EJ, Magnusson PK, Christensen K, Sørensen TI, Pietiläinen KH, Rantanen T, Silander K, Widén E, Muilu J, Rahman I, Liljedahl U, Syvänen AC, Palotie A, Kaprio J, Kyvik KO, Pedersen NL, Boomsma DI, Spector T, Martin NG, Ripatti S, Peltonen L; GenomEUtwin Project.

Twin Res Hum Genet. 2012 Dec;15(6):691-9. doi: 10.1017/thg.2012.63. Epub 2012 Oct 3.

6.

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.

7.

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information.

Adamusiak T, Parkinson H, Muilu J, Roos E, van der Velde KJ, Thorisson GA, Byrne M, Pang C, Gollapudi S, Ferretti V, Hillege H, Brookes AJ, Swertz MA.

Hum Mutat. 2012 May;33(5):867-73. doi: 10.1002/humu.22070. Epub 2012 Apr 4.

PMID:
22416047
8.

The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button.

Swertz MA, Dijkstra M, Adamusiak T, van der Velde JK, Kanterakis A, Roos ET, Lops J, Thorisson GA, Arends D, Byelas G, Muilu J, Brookes AJ, de Brock EO, Jansen RC, Parkinson H.

BMC Bioinformatics. 2010 Dec 21;11 Suppl 12:S12. doi: 10.1186/1471-2105-11-S12-S12.

9.

NordicDB: a Nordic pool and portal for genome-wide control data.

Leu M, Humphreys K, Surakka I, Rehnberg E, Muilu J, Rosenström P, Almgren P, Jääskeläinen J, Lifton RP, Kyvik KO, Kaprio J, Pedersen NL, Palotie A, Hall P, Grönberg H, Groop L, Peltonen L, Palmgren J, Ripatti S.

Eur J Hum Genet. 2010 Dec;18(12):1322-6. doi: 10.1038/ejhg.2010.112. Epub 2010 Jul 28.

10.

The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation.

Brookes AJ, Lehvaslaiho H, Muilu J, Shigemoto Y, Oroguchi T, Tomiki T, Mukaiyama A, Konagaya A, Kojima T, Inoue I, Kuroda M, Mizushima H, Thorisson GA, Dash D, Rajeevan H, Darlison MW, Woon M, Fredman D, Smith AV, Senger M, Naito K, Sugawara H.

Hum Mutat. 2009 Jun;30(6):968-77. doi: 10.1002/humu.20973.

PMID:
19479963
11.

Geographical structure and differential natural selection among North European populations.

McEvoy BP, Montgomery GW, McRae AF, Ripatti S, Perola M, Spector TD, Cherkas L, Ahmadi KR, Boomsma D, Willemsen G, Hottenga JJ, Pedersen NL, Magnusson PK, Kyvik KO, Christensen K, Kaprio J, Heikkilä K, Palotie A, Widen E, Muilu J, Syvänen AC, Liljedahl U, Hardiman O, Cronin S, Peltonen L, Martin NG, Visscher PM.

Genome Res. 2009 May;19(5):804-14. doi: 10.1101/gr.083394.108. Epub 2009 Mar 5.

12.

Genotype-phenotype databases: challenges and solutions for the post-genomic era.

Thorisson GA, Muilu J, Brookes AJ.

Nat Rev Genet. 2009 Jan;10(1):9-18. doi: 10.1038/nrg2483. Review.

PMID:
19065136
13.
14.

ASD: the Alternative Splicing Database.

Thanaraj TA, Stamm S, Clark F, Riethoven JJ, Le Texier V, Muilu J.

Nucleic Acids Res. 2004 Jan 1;32(Database issue):D64-9.

15.

Data modeling and data communication in GenomEUtwin.

Litton JE, Muilu J, Björklund A, Leinonen A, Pedersen NL.

Twin Res. 2003 Oct;6(5):383-90.

PMID:
14624722
16.

Conservation of human alternative splice events in mouse.

Thanaraj TA, Clark F, Muilu J.

Nucleic Acids Res. 2003 May 15;31(10):2544-52.

17.

Paradigm shifts in the approaches for gene annotation.

Thanaraj TA, Robinson A, Muilu J, Riethoven JJ.

Brief Bioinform. 2000 Nov;1(4):324-9. Review. No abstract available.

PMID:
11465050
18.

GBuilder--an application for the visualization and integration of EST cluster data.

Muilu J, Rodriguez-Tomé P, Robinson A.

Genome Res. 2001 Jan;11(1):179-84.

19.

Functional conformational changes of endo-1,4-xylanase II from Trichoderma reesei: a molecular dynamics study.

Muilu J, Törrönen A, Peräkylä M, Rouvinen J.

Proteins. 1998 Jun 1;31(4):434-44.

PMID:
9626702
20.

Ab initio models for ZnS surfaces: Influence of cluster size on surface properties.

Muilu J, Pakkanen TA.

Phys Rev B Condens Matter. 1994 Apr 15;49(16):11185-11190. No abstract available.

PMID:
10009968

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