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From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care.
de Koning MA, Haak MC, Adama van Scheltema PN, Peeters-Scholte CMPCD, Koopmann TT, Nibbeling EAR, Aten E, den Hollander NS, Ruivenkamp CAL, Hoffer MJV, Santen GWE. de Koning MA, et al. Among authors: haak mc. Genet Med. 2019 Oct;21(10):2303-2310. doi: 10.1038/s41436-019-0499-9. Epub 2019 Mar 28. Genet Med. 2019. PMID: 30918357 Free article.
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, Bilardo CM, Boon EMJ, Boter M, Diderich KEM, de Die-Smulders CEM, Duin LK, Faas BHW, Feenstra I, Haak MC, Hoffer MJV, den Hollander NS, Hollink IHIM, Jehee FS, Knapen MFCM, Kooper AJA, van Langen IM, Lichtenbelt KD, Linskens IH, van Maarle MC, Oepkes D, Pieters MJ, Schuring-Blom GH, Sikkel E, Sikkema-Raddatz B, Smeets DFCM, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Ven AJEM, van Zelderen-Bhola SL, Henneman L, Galjaard RH, Van Opstal D, Weiss MM; Dutch NIPT Consortium. van der Meij KRM, et al. Among authors: haak mc. Am J Hum Genet. 2019 Dec 5;105(6):1091-1101. doi: 10.1016/j.ajhg.2019.10.005. Epub 2019 Nov 7. Am J Hum Genet. 2019. PMID: 31708118 Free PMC article.
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
van Nisselrooij AEL, Lugthart MA, Clur SA, Linskens IH, Pajkrt E, Rammeloo LA, Rozendaal L, Blom NA, van Lith JMM, Knegt AC, Hoffer MJV, Aten E, Santen GWE, Haak MC. van Nisselrooij AEL, et al. Among authors: haak mc. Genet Med. 2020 Jul;22(7):1206-1214. doi: 10.1038/s41436-020-0791-8. Epub 2020 Apr 28. Genet Med. 2020. PMID: 32341573 Free PMC article.
207 results