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CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
Li S, van der Velde KJ, de Ridder D, van Dijk ADJ, Soudis D, Zwerwer LR, Deelen P, Hendriksen D, Charbon B, van Gijn ME, Abbott K, Sikkema-Raddatz B, van Diemen CC, Kerstjens-Frederikse WS, Sinke RJ, Swertz MA. Li S, et al. Among authors: swertz ma. Genome Med. 2020 Aug 24;12(1):75. doi: 10.1186/s13073-020-00775-w. Genome Med. 2020. PMID: 32831124 Free PMC article.
XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments.
Swertz MA, Velde KJ, Tesson BM, Scheltema RA, Arends D, Vera G, Alberts R, Dijkstra M, Schofield P, Schughart K, Hancock JM, Smedley D, Wolstencroft K, Goble C, de Brock EO, Jones AR, Parkinson HE; Coordination of Mouse Informatics Resources (CASIMIR); Genotype-To-Phenotype (GEN2PHEN) Consortiums; Jansen RC. Swertz MA, et al. Genome Biol. 2010;11(3):R27. doi: 10.1186/gb-2010-11-3-r27. Epub 2010 Mar 9. Genome Biol. 2010. PMID: 20214801 Free PMC article.
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. Szperl AM, et al. Clin Genet. 2011 Aug;80(2):138-47. doi: 10.1111/j.1399-0004.2011.01714.x. Epub 2011 Jun 21. Clin Genet. 2011. PMID: 21627641
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. Arends D, et al. Among authors: swertz ma. Bioinformatics. 2012 Apr 1;28(7):1042-4. doi: 10.1093/bioinformatics/bts049. Epub 2012 Feb 3. Bioinformatics. 2012. PMID: 22308096 Free PMC article.
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. Snoek LB, et al. Among authors: swertz ma. Nucleic Acids Res. 2013 Jan;41(Database issue):D738-43. doi: 10.1093/nar/gks1124. Epub 2012 Nov 24. Nucleic Acids Res. 2013. PMID: 23180786 Free PMC article.
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. Duarri A, et al. Among authors: swertz ma. Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700. Ann Neurol. 2012. PMID: 23280838
226 results