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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. Among authors: de boer en. 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: de boer en. Hum Mutat. 2013 Jul;34(7):1035-42. doi: 10.1002/humu.22332. Epub 2013 Apr 29. Hum Mutat. 2013. PMID: 23568810
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.
Ghorbani F, de Boer EN, Benjamins-Stok M, Verschuuren-Bemelmans CC, Knapper J, de Boer-Bergsma J, de Vries JJ, Sikkema-Raddatz B, Verbeek DS, Westers H, van Diemen CC. Ghorbani F, et al. Among authors: de boer en. Neurol Genet. 2023 Feb 2;9(1):e200050. doi: 10.1212/NXG.0000000000200050. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 38058854 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. Among authors: de boer en. Hum Mutat. 2016 May;37(5):457-64. doi: 10.1002/humu.22969. Epub 2016 Feb 24. Hum Mutat. 2016. PMID: 26864275
GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
van der Velde KJ, de Boer EN, van Diemen CC, Sikkema-Raddatz B, Abbott KM, Knopperts A, Franke L, Sijmons RH, de Koning TJ, Wijmenga C, Sinke RJ, Swertz MA. van der Velde KJ, et al. Among authors: de boer en, de koning tj. Genome Biol. 2017 Jan 16;18(1):6. doi: 10.1186/s13059-016-1141-7. Genome Biol. 2017. PMID: 28093075 Free PMC article.
14 results