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Items: 9

1.

Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification.

Alimohamed MZ, Johansson LF, de Boer EN, Splinter E, Klous P, Yilmaz M, Bosga A, van Min M, Mulder AB, Vellenga E, Sinke RJ, Sijmons RH, van den Berg E, Sikkema-Raddatz B.

Clin Chem. 2018 Jul;64(7):1096-1103. doi: 10.1373/clinchem.2017.286047. Epub 2018 May 24.

PMID:
29794109
2.

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.

Sci Rep. 2017 May 12;7(1):1838. doi: 10.1038/s41598-017-02031-5.

3.

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results.

Sikkema-Raddatz B, Johansson LF, de Boer EN, Boon EM, Suijkerbuijk RF, Bouman K, Bilardo CM, Swertz MA, Dijkstra M, van Langen IM, Sinke RJ, Te Meerman GJ.

Sci Rep. 2016 Dec 5;6:38359. doi: 10.1038/srep38359.

4.

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.

Hum Mutat. 2016 May;37(5):457-64. doi: 10.1002/humu.22969. Epub 2016 Feb 24.

PMID:
26864275
5.

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

Rump P, Jazayeri O, van Dijk-Bos KK, Johansson LF, van Essen AJ, Verheij JB, Veenstra-Knol HE, Redeker EJ, Mannens MM, Swertz MA, Alizadeh BZ, van Ravenswaaij-Arts CM, Sinke RJ, Sikkema-Raddatz B.

BMC Med Genomics. 2016 Feb 4;9:7. doi: 10.1186/s12920-016-0167-8.

6.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Deprez RL, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Weiss JM, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen JT, Veltman JA, Hennekam R, Cuppen E.

Eur J Hum Genet. 2015 Sep;23(9):1270. doi: 10.1038/ejhg.2015.44. No abstract available.

7.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Vrijenhoek T, Kraaijeveld K, Elferink M, de Ligt J, Kranendonk E, Santen G, Nijman IJ, Butler D, Claes G, Costessi A, Dorlijn W, van Eyndhoven W, Halley DJ, van den Hout MC, van Hove S, Johansson LF, Jongbloed JD, Kamps R, Kockx CE, de Koning B, Kriek M, Lekanne Dit Deprez R, Lunstroo H, Mannens M, Mook OR, Nelen M, Ploem C, Rijnen M, Saris JJ, Sinke R, Sistermans E, van Slegtenhorst M, Sleutels F, van der Stoep N, van Tienhoven M, Vermaat M, Vogel M, Waisfisz Q, Marjan Weiss J, van den Wijngaard A, van Workum W, Ijntema H, van der Zwaag B, van IJcken WF, den Dunnen J, Veltman JA, Hennekam R, Cuppen E.

Eur J Hum Genet. 2015 Sep;23(9):1142-50. doi: 10.1038/ejhg.2014.279. Epub 2015 Jan 28. Erratum in: Eur J Hum Genet. 2015 Sep;23(9):1270. Mook, Olaf R [added].

8.

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.

Hum Mutat. 2013 Jul;34(7):1035-42. doi: 10.1002/humu.22332. Epub 2013 Apr 29.

PMID:
23568810
9.

Successful noninvasive trisomy 18 detection using single molecule sequencing.

van den Oever JM, Balkassmi S, Johansson LF, Adama van Scheltema PN, Suijkerbuijk RF, Hoffer MJ, Sinke RJ, Bakker E, Sikkema-Raddatz B, Boon EM.

Clin Chem. 2013 Apr;59(4):705-9. doi: 10.1373/clinchem.2012.196212. Epub 2013 Jan 11.

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