Joosten M - Search Results

1

The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.

Diderich KEM, Klapwijk JE, van der Schoot V, van den Born M, Wilke M, Joosten M, Stuurman KE, Hoefsloot LH, Van Opstal D, Brüggenwirth HT, Srebniak MI. Diderich KEM, et al. Among authors: joosten m. Eur J Med Genet. 2023 Oct;66(10):104844. doi: 10.1016/j.ejmg.2023.104844. Epub 2023 Sep 13. Eur J Med Genet. 2023. PMID: 37709011

2

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.

Srebniak M, Boter M, Oudesluijs G, Joosten M, Govaerts L, Van Opstal D, Galjaard RJ. Srebniak M, et al. Among authors: joosten m. Eur J Hum Genet. 2011 Dec;19(12):1230-7. doi: 10.1038/ejhg.2011.119. Epub 2011 Jun 22. Eur J Hum Genet. 2011. PMID: 21694736 Free PMC article.

3

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.

Srebniak MI, Boter M, Oudesluijs GO, Cohen-Overbeek T, Govaerts LC, Diderich KE, Oegema R, Knapen MF, van de Laar IM, Joosten M, Van Opstal D, Galjaard RJ. Srebniak MI, et al. Among authors: joosten m. Mol Cytogenet. 2012 Mar 13;5(1):14. doi: 10.1186/1755-8166-5-14. Mol Cytogenet. 2012. PMID: 22413963 Free PMC article.

4

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.

Srebniak MI, Diderich KE, Govaerts LC, Joosten M, Riedijk S, Galjaard RJ, Van Opstal D. Srebniak MI, et al. Among authors: joosten m. Eur J Hum Genet. 2014 Jul;22(7):856-8. doi: 10.1038/ejhg.2013.254. Epub 2013 Nov 6. Eur J Hum Genet. 2014. PMID: 24193341 Free PMC article. Review. No abstract available.

5

Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing.

van der Steen SL, Diderich KE, Riedijk SR, Verhagen-Visser J, Govaerts LC, Joosten M, Knapen MF, Van Opstal D, Srebniak MI, Tibben A, Galjaard RJ. van der Steen SL, et al. Among authors: joosten m. Clin Genet. 2015 Jul;88(1):25-31. doi: 10.1111/cge.12479. Epub 2014 Oct 28. Clin Genet. 2015. PMID: 25134982

6

Whole-genome array as a first-line cytogenetic test in prenatal diagnosis.

Srebniak MI, Van Opstal D, Joosten M, Diderich KE, de Vries FA, Riedijk S, Knapen MF, Go AT, Govaerts LC, Galjaard RJ. Srebniak MI, et al. Among authors: joosten m. Ultrasound Obstet Gynecol. 2015 Apr;45(4):363-72. doi: 10.1002/uog.14745. Ultrasound Obstet Gynecol. 2015. PMID: 25488734 Free article. No abstract available.

7

Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies.

Van Opstal D, de Vries F, Govaerts L, Boter M, Lont D, van Veen S, Joosten M, Diderich K, Galjaard RJ, Srebniak MI. Van Opstal D, et al. Among authors: joosten m. Hum Mutat. 2015 Mar;36(3):319-26. doi: 10.1002/humu.22742. Hum Mutat. 2015. PMID: 25504762

8

Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder?

Srebniak MI, Govaerts LC, Diderich KE, Joosten M, de Vries FA, Galjaard RJ, Van Opstal D. Srebniak MI, et al. Among authors: joosten m. Genet Med. 2016 Apr;18(4):307-8. doi: 10.1038/gim.2015.95. Epub 2015 Jul 9. Genet Med. 2016. PMID: 26158230 Free article. No abstract available.

9

The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.

Riedijk S, Diderich KE, van der Steen SL, Govaerts LC, Joosten M, Knapen MF, de Vries FA, van Opstal D, Tibben A, Galjaard RJ. Riedijk S, et al. Among authors: joosten m. J Clin Med. 2014 Jul 3;3(3):713-23. doi: 10.3390/jcm3030713. J Clin Med. 2014. PMID: 26237473 Free PMC article. Review.

10

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.

Srebniak MI, Diderich KE, Joosten M, Govaerts LC, Knijnenburg J, de Vries FA, Boter M, Lont D, Knapen MF, de Wit MC, Go AT, Galjaard RJ, Van Opstal D. Srebniak MI, et al. Among authors: joosten m. Eur J Hum Genet. 2016 May;24(5):645-51. doi: 10.1038/ejhg.2015.193. Epub 2015 Sep 2. Eur J Hum Genet. 2016. PMID: 26328504 Free PMC article.

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