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Results: 1 to 20 of 32

1.

Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'

Deelen P, Menelaou A, van Leeuwen EM, Kanterakis A, van Dijk F, Medina-Gomez C, Francioli LC, Hottenga JJ, Karssen LC, Estrada K, Kreiner-Møller E, Rivadeneira F, van Setten J, Gutierrez-Achury J, Westra HJ, Franke L, van Enckevort D, Dijkstra M, Byelas H, van Duijn CM; Genome of the Netherlands Consortium, de Bakker PI, Wijmenga C, Swertz MA.

Eur J Hum Genet. 2014 Jun 4. doi: 10.1038/ejhg.2014.19. [Epub ahead of print]

PMID:
24896149
[PubMed - as supplied by publisher]
2.

Worm variation made accessible: Take your shopping cart to store, link, and investigate!

Snoek LB, Joeri van der Velde K, Li Y, Jansen RC, Swertz MA, Kammenga JE.

Worm. 2014 Jan 1;3(1):e28357. doi: 10.4161/worm.28357. Epub 2014 Mar 6.

PMID:
24843834
[PubMed]
3.

The prevalence of metabolic syndrome and metabolically healthy obesity in Europe: a collaborative analysis of ten large cohort studies.

van Vliet-Ostaptchouk JV, Nuotio ML, Slagter SN, Doiron D, Fischer K, Foco L, Gaye A, Gögele M, Heier M, Hiekkalinna T, Joensuu A, Newby C, Pang C, Partinen E, Reischl E, Schwienbacher C, Tammesoo ML, Swertz MA, Burton P, Ferretti V, Fortier I, Giepmans L, Harris JR, Hillege HL, Holmen J, Jula A, Kootstra-Ros JE, Kvaløy K, Holmen TL, Männistö S, Metspalu A, Midthjell K, Murtagh MJ, Peters A, Pramstaller PP, Saaristo T, Salomaa V, Stolk RP, Uusitupa M, van der Harst P, van der Klauw MM, Waldenberger M, Perola M, Wolffenbuttel BH.

BMC Endocr Disord. 2014 Feb 1;14(1):9. doi: 10.1186/1472-6823-14-9.

PMID:
24484869
[PubMed]
Free PMC Article
4.

Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant.

Almeida R, Ricaño-Ponce I, Kumar V, Deelen P, Szperl A, Trynka G, Gutierrez-Achury J, Kanterakis A, Westra HJ, Franke L, Swertz MA, Platteel M, Bilbao JR, Barisani D, Greco L, Mearin L, Wolters VM, Mulder C, Mazzilli MC, Sood A, Cukrowska B, Núñez C, Pratesi R, Withoff S, Wijmenga C.

Hum Mol Genet. 2014 May 1;23(9):2481-9. doi: 10.1093/hmg/ddt619. Epub 2013 Dec 11.

PMID:
24334606
[PubMed - in process]
Free PMC Article
5.

WormQTLHD--a web database for linking human disease to natural variation data in C. elegans.

van der Velde KJ, de Haan M, Zych K, Arends D, Snoek LB, Kammenga JE, Jansen RC, Swertz MA, Li Y.

Nucleic Acids Res. 2014 Jan;42(Database issue):D794-801. doi: 10.1093/nar/gkt1044. Epub 2013 Nov 11.

PMID:
24217915
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.

van der Velde KJ, Dhekne HS, Swertz MA, Sirigu S, Ropars V, Vinke PC, Rengaw T, van den Akker PC, Rings EH, Houdusse A, van Ijzendoorn SC.

Hum Mutat. 2013 Dec;34(12):1597-605. doi: 10.1002/humu.22440. Epub 2013 Oct 16. Review.

PMID:
24014347
[PubMed - indexed for MEDLINE]
7.

Consensus and conflict cards for metabolic pathway databases.

Stobbe MD, Swertz MA, Thiele I, Rengaw T, van Kampen AH, Moerland PD.

BMC Syst Biol. 2013 Jun 26;7:50. doi: 10.1186/1752-0509-7-50.

PMID:
23803311
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The Genome of the Netherlands: design, and project goals.

Boomsma DI, Wijmenga C, Slagboom EP, Swertz MA, Karssen LC, Abdellaoui A, Ye K, Guryev V, Vermaat M, van Dijk F, Francioli LC, Hottenga JJ, Laros JF, Li Q, Li Y, Cao H, Chen R, Du Y, Li N, Cao S, van Setten J, Menelaou A, Pulit SL, Hehir-Kwa JY, Beekman M, Elbers CC, Byelas H, de Craen AJ, Deelen P, Dijkstra M, den Dunnen JT, de Knijff P, Houwing-Duistermaat J, Koval V, Estrada K, Hofman A, Kanterakis A, Enckevort Dv, Mai H, Kattenberg M, van Leeuwen EM, Neerincx PB, Oostra B, Rivadeneira F, Suchiman EH, Uitterlinden AG, Willemsen G, Wolffenbuttel BH, Wang J, de Bakker PI, van Ommen GJ, van Duijn CM.

Eur J Hum Genet. 2014 Feb;22(2):221-7. doi: 10.1038/ejhg.2013.118. Epub 2013 May 29.

PMID:
23714750
[PubMed - in process]
Free PMC Article
9.

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Küsters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS.

Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700.

PMID:
23280838
[PubMed - indexed for MEDLINE]
10.

WormQTL--public archive and analysis web portal for natural variation data in Caenorhabditis spp.

Snoek LB, Van der Velde KJ, Arends D, Li Y, Beyer A, Elvin M, Fisher J, Hajnal A, Hengartner MO, Poulin GB, Rodriguez M, Schmid T, Schrimpf S, Xue F, Jansen RC, Kammenga JE, Swertz MA.

Nucleic Acids Res. 2013 Jan;41(Database issue):D738-43. doi: 10.1093/nar/gks1124. Epub 2012 Nov 24.

PMID:
23180786
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
12.

Workshop on laboratory protocol standards for the Molecular Methods Database.

Klingström T, Soldatova L, Stevens R, Roos TE, Swertz MA, Müller KM, Kalaš M, Lambrix P, Taussig MJ, Litton JE, Landegren U, Bongcam-Rudloff E.

N Biotechnol. 2013 Jan 25;30(2):109-13. doi: 10.1016/j.nbt.2012.05.019. Epub 2012 Jun 2.

PMID:
22687389
[PubMed - indexed for MEDLINE]
13.

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.

Hum Mutat. 2012 Aug;33(8):1149-60. doi: 10.1002/humu.22086. Epub 2012 Apr 16. Review.

PMID:
22461308
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Bioinformatics tools and database resources for systems genetics analysis in mice--a short review and an evaluation of future needs.

Durrant C, Swertz MA, Alberts R, Arends D, Möller S, Mott R, Prins P, van der Velde KJ, Jansen RC, Schughart K.

Brief Bioinform. 2012 Mar;13(2):135-42. doi: 10.1093/bib/bbr026. Epub 2011 Jul 8. Review.

PMID:
22396485
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

xQTL workbench: a scalable web environment for multi-level QTL analysis.

Arends D, van der Velde KJ, Prins P, Broman KW, Möller S, Jansen RC, Swertz MA.

Bioinformatics. 2012 Apr 1;28(7):1042-4. doi: 10.1093/bioinformatics/bts049. Epub 2012 Feb 3.

PMID:
22308096
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

ontoCAT: an R package for ontology traversal and search.

Kurbatova N, Adamusiak T, Kurnosov P, Swertz MA, Kapushesky M.

Bioinformatics. 2011 Sep 1;27(17):2468-70. doi: 10.1093/bioinformatics/btr375. Epub 2011 Jun 22.

PMID:
21697126
[PubMed - indexed for MEDLINE]
Free Article
18.

The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.

van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA.

Hum Mutat. 2011 Oct;32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9.

PMID:
21681854
[PubMed - indexed for MEDLINE]
19.

OntoCAT--simple ontology search and integration in Java, R and REST/JavaScript.

Adamusiak T, Burdett T, Kurbatova N, Joeri van der Velde K, Abeygunawardena N, Antonakaki D, Kapushesky M, Parkinson H, Swertz MA.

BMC Bioinformatics. 2011 May 29;12:218. doi: 10.1186/1471-2105-12-218.

PMID:
21619703
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

PeakML/mzMatch: a file format, Java library, R library, and tool-chain for mass spectrometry data analysis.

Scheltema RA, Jankevics A, Jansen RC, Swertz MA, Breitling R.

Anal Chem. 2011 Apr 1;83(7):2786-93. doi: 10.1021/ac2000994. Epub 2011 Mar 14.

PMID:
21401061
[PubMed - indexed for MEDLINE]

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