Diderich KEM - Search Results

1

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Among authors: diderich kem. Genet Med. 2022 Aug;24(8):1753-1760. doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18. Genet Med. 2022. PMID: 35579625 Free PMC article.

2

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. Mol Cytogenet. 2012 Mar 13;5(1):14. doi: 10.1186/1755-8166-5-14. Mol Cytogenet. 2012. PMID: 22413963 Free PMC article.

3

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. 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.

4

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. Clin Genet. 2015 Jul;88(1):25-31. doi: 10.1111/cge.12479. Epub 2014 Oct 28. Clin Genet. 2015. PMID: 25134982

5

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. 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.

6

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. Hum Mutat. 2015 Mar;36(3):319-26. doi: 10.1002/humu.22742. Hum Mutat. 2015. PMID: 25504762

7

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. 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.

8

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. J Clin Med. 2014 Jul 3;3(3):713-23. doi: 10.3390/jcm3030713. J Clin Med. 2014. PMID: 26237473 Free PMC article. Review.

9

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. 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.

10

False Negative NIPT Results: Risk Figures for Chromosomes 13, 18 and 21 Based on Chorionic Villi Results in 5967 Cases and Literature Review.

Van Opstal D, Srebniak MI, Polak J, de Vries F, Govaerts LC, Joosten M, Go AT, Knapen MF, van den Berg C, Diderich KE, Galjaard RJ. Van Opstal D, et al. PLoS One. 2016 Jan 15;11(1):e0146794. doi: 10.1371/journal.pone.0146794. eCollection 2016. PLoS One. 2016. PMID: 26771677 Free PMC article. Review.

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