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Results: 7

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 Netherlands Consortium, de Bakker PI, Wijmenga C, Swertz MA.

Eur J Hum Genet. 2014 Nov;22(11):1321-6. doi: 10.1038/ejhg.2014.19. Epub 2014 Jun 4.

PMID:
24896149
[PubMed - in process]
Free PMC Article
2.

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 - indexed for MEDLINE]
Free PMC Article
3.

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
4.

Exome sequencing in a family segregating for celiac disease.

Szperl AM, Ricaño-Ponce I, Li JK, Deelen P, Kanterakis A, Plagnol V, van Dijk F, Westra HJ, Trynka G, Mulder CJ, Swertz M, Wijmenga C, Zheng HC.

Clin Genet. 2011 Aug;80(2):138-47. doi: 10.1111/j.1399-0004.2011.01714.x. Epub 2011 Jun 21.

PMID:
21627641
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
21210979
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Scientific discovery workflows in bioinformatics: a scenario for the coupling of molecular regulatory pathways and gene-expression profiles.

Kanterakis A, Potamias G, Zacharioudakis G, Koumakis L, Sfakianakis S, Tsiknakis M.

Stud Health Technol Inform. 2010;160(Pt 2):1304-8.

PMID:
20841895
[PubMed - indexed for MEDLINE]
7.

A semantically aware platform for the authoring and secure enactment of bioinformatics workflows.

Tsiknakis M, Sfakianakis S, Zacharioudakis G, Umakis L, Kanterakis A, Potamias G, Kafetzopoulos D.

Conf Proc IEEE Eng Med Biol Soc. 2009;2009:5625-8. doi: 10.1109/IEMBS.2009.5333787.

PMID:
19964401
[PubMed - indexed for MEDLINE]

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