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Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing.
Johansson LF, de Boer EN, de Weerd HA, van Dijk F, Elferink MG, Schuring-Blom GH, Suijkerbuijk RF, Sinke RJ, Te Meerman GJ, Sijmons RH, Swertz MA, Sikkema-Raddatz B. Johansson LF, et al. Sci Rep. 2017 May 12;7(1):1838. doi: 10.1038/s41598-017-02031-5. Sci Rep. 2017. PMID: 28500333 Free PMC article.
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.
Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts KY, van Tintelen JP, Sijmons RH, Jongbloed JD, Sinke RJ. Sikkema-Raddatz B, et al. Among authors: johansson lf. Hum Mutat. 2013 Jul;34(7):1035-42. doi: 10.1002/humu.22332. Epub 2013 Apr 29. Hum Mutat. 2013. PMID: 23568810
A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.
van der Velde KJ, van den Hoek S, van Dijk F, Hendriksen D, van Diemen CC, Johansson LF, Abbott KM, Deelen P, Sikkema-Raddatz B, Swertz MA. van der Velde KJ, et al. Among authors: johansson lf. Adv Genet (Hoboken). 2020 Aug 10;1(1):e10023. doi: 10.1002/ggn2.10023. eCollection 2020 Dec. Adv Genet (Hoboken). 2020. PMID: 36619248 Free PMC article.
CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.
Johansson LF, van Dijk F, de Boer EN, van Dijk-Bos KK, Jongbloed JD, van der Hout AH, Westers H, Sinke RJ, Swertz MA, Sijmons RH, Sikkema-Raddatz B. Johansson LF, et al. Hum Mutat. 2016 May;37(5):457-64. doi: 10.1002/humu.22969. Epub 2016 Feb 24. Hum Mutat. 2016. PMID: 26864275
24 results