Sikkema-Raddatz B - Search Results

1

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.

Veldman A, Kiewiet MBG, Heiner-Fokkema MR, Nelen MR, Sinke RJ, Sikkema-Raddatz B, Voorhoeve E, Westra D, Dollé MET, Schielen PCJI, van Spronsen FJ. Veldman A, et al. Among authors: sikkema raddatz b. Int J Neonatal Screen. 2022 Feb 24;8(1):17. doi: 10.3390/ijns8010017. Int J Neonatal Screen. 2022. PMID: 35323196 Free PMC article.

2

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.

Hanemaaijer NM, Sikkema-Raddatz B, van der Vries G, Dijkhuizen T, Hordijk R, van Essen AJ, Veenstra-Knol HE, Kerstjens-Frederikse WS, Herkert JC, Gerkes EH, Leegte LK, Kok K, Sinke RJ, van Ravenswaaij-Arts CM. Hanemaaijer NM, et al. Eur J Hum Genet. 2012 Feb;20(2):161-5. doi: 10.1038/ejhg.2011.174. Epub 2011 Sep 21. Eur J Hum Genet. 2012. PMID: 21934709 Free PMC article.

3

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. van den Oever JM, et al. Clin Chem. 2013 Apr;59(4):705-9. doi: 10.1373/clinchem.2012.196212. Epub 2013 Jan 11. Clin Chem. 2013. PMID: 23315481 Free article.

4

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. Hum Mutat. 2013 Jul;34(7):1035-42. doi: 10.1002/humu.22332. Epub 2013 Apr 29. Hum Mutat. 2013. PMID: 23568810

5

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.

de Koning TJ, Jongbloed JD, Sikkema-Raddatz B, Sinke RJ. de Koning TJ, et al. Expert Rev Mol Diagn. 2015 Jan;15(1):61-70. doi: 10.1586/14737159.2015.976555. Epub 2014 Nov 4. Expert Rev Mol Diagn. 2015. PMID: 25367078

6

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Jazayeri O, Liu X, van Diemen CC, Bakker-van Waarde WM, Sikkema-Raddatz B, Sinke RJ, Zhang J, van Ravenswaaij-Arts CM. Jazayeri O, et al. Eur J Med Genet. 2015 Dec;58(12):642-9. doi: 10.1016/j.ejmg.2015.11.001. Epub 2015 Nov 6. Eur J Med Genet. 2015. PMID: 26548497 Review.

7

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. Rump P, et al. BMC Med Genomics. 2016 Feb 4;9:7. doi: 10.1186/s12920-016-0167-8. BMC Med Genomics. 2016. PMID: 26846091 Free PMC article.

8

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

9

Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation.

Berger G, van den Berg E, Sikkema-Raddatz B, Abbott KM, Sinke RJ, Bungener LB, Mulder AB, Vellenga E. Berger G, et al. Leukemia. 2017 Feb;31(2):520-522. doi: 10.1038/leu.2016.310. Epub 2016 Oct 31. Leukemia. 2017. PMID: 27795557 No abstract available.

10

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. Sikkema-Raddatz B, et al. Sci Rep. 2016 Dec 5;6:38359. doi: 10.1038/srep38359. Sci Rep. 2016. PMID: 27917919 Free PMC article.

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