Sikkema-Raddatz B - Search Results

1

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.

Alimohamed MZ, Westers H, Vos YJ, Van der Velde KJ, Sijmons RH, Van der Zwaag PA, Sikkema-Raddatz B, Jongbloed JDH. Alimohamed MZ, et al. Among authors: sikkema raddatz b. Front Genet. 2022 Mar 1;13:824510. doi: 10.3389/fgene.2022.824510. eCollection 2022. Front Genet. 2022. PMID: 35299955 Free PMC article.

2

Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case.

Sikkema-Raddatz B, Sijmons RH, Tan-Sindhunata MB, van der Veen AY, Brunsting R, de Vries B, Beekhuis JR, Bekedam DJ, van Aken B, de Jong B. Sikkema-Raddatz B, et al. Prenat Diagn. 1995 May;15(5):467-73. doi: 10.1002/pd.1970150510. Prenat Diagn. 1995. PMID: 7644437

3

46,XY,dup(10q) in direct CVS preparation and mosaic 48,XXXY,dup(10q) in CVS long-term culture and fetal tissue.

Sijmons RH, Sikkema-Raddatz B, Kloosterman MD, Briet JW, De Jong B, Leschot NJ. Sijmons RH, et al. Prenat Diagn. 1995 Mar;15(3):285-90. doi: 10.1002/pd.1970150314. Prenat Diagn. 1995. PMID: 7784389

4

Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).

Rump P, Dijkhuizen T, Sikkema-Raddatz B, Lemmink HH, Vos YJ, Verheij JB, van Ravenswaaij CM. Rump P, et al. Clin Genet. 2008 Nov;74(5):455-62. doi: 10.1111/j.1399-0004.2008.01064.x. Epub 2008 Jul 21. Clin Genet. 2008. PMID: 18651844

5

Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.

Rump P, Jongbloed JD, Sikkema-Raddatz B, Mundlos S, Klopocki E, van der Luijt RB. Rump P, et al. Am J Med Genet A. 2011 Oct;155A(10):2566-70. doi: 10.1002/ajmg.a.34218. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910239

6

The use of arrays to detect copy-number variations in clinical practice.

Sikkema-Raddatz B, Sijmons RH. Sikkema-Raddatz B, et al. Hum Mutat. 2012 Jun;33(6):905. doi: 10.1002/humu.22084. Hum Mutat. 2012. PMID: 22570302 Free article. No abstract available.

7

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

8

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

9

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

Vlaskamp DR, Rump P, Callenbach PM, Vos YJ, Sikkema-Raddatz B, van Ravenswaaij-Arts CM, Brouwer OF. Vlaskamp DR, et al. Eur J Paediatr Neurol. 2016 May;20(3):489-92. doi: 10.1016/j.ejpn.2015.12.014. Epub 2016 Jan 8. Eur J Paediatr Neurol. 2016. PMID: 26818399

10

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

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