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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 1
2002 2
2003 2
2005 1
2006 3
2007 2
2009 1
2010 3
2012 3
2013 2
2014 2
2015 4
2016 3
2017 4
2018 4
2019 1
2020 1
2021 0
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31 results
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Page 1
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: van maarle 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.
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Van Opstal D, van Maarle MC, Lichtenbelt K, Weiss MM, Schuring-Blom H, Bhola SL, Hoffer MJV, Huijsdens-van Amsterdam K, Macville MV, Kooper AJA, Faas BHW, Govaerts L, Tan-Sindhunata GM, den Hollander N, Feenstra I, Galjaard RH, Oepkes D, Ghesquiere S, Brouwer RWW, Beulen L, Bollen S, Elferink MG, Straver R, Henneman L, Page-Christiaens GC, Sistermans EA. Van Opstal D, et al. Among authors: van maarle mc. Genet Med. 2018 Apr;20(5):480-485. doi: 10.1038/gim.2017.132. Epub 2017 Sep 28. Genet Med. 2018. PMID: 29121006 Free PMC article.
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K, Knoers NV, Roepman R, Mitchison HM. Schmidts M, et al. Among authors: van maarle mc. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1. J Med Genet. 2013. PMID: 23456818 Free PMC article.
Genetics of early miscarriage.
van den Berg MM, van Maarle MC, van Wely M, Goddijn M. van den Berg MM, et al. Among authors: van maarle mc. Biochim Biophys Acta. 2012 Dec;1822(12):1951-9. doi: 10.1016/j.bbadis.2012.07.001. Epub 2012 Jul 13. Biochim Biophys Acta. 2012. PMID: 22796359 Free article. Review.
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden C, Neveling K, Zafeiropopoulou D, Gilissen C, Pfundt R, Rinne T, de Leeuw N, Faas B, Gardeitchik T, Sallevelt SCEH, Paulussen A, Stevens SJC, Sikkel E, Elting MW, van Maarle MC, Diderich KEM, Corsten-Janssen N, Lichtenbelt KD, Lachmeijer G, Vissers LELM, Yntema HG, Nelen M, Feenstra I, van Zelst-Stams WAG. Deden C, et al. Among authors: van maarle mc. Prenat Diagn. 2020 Jul;40(8):972-983. doi: 10.1002/pd.5717. Epub 2020 May 5. Prenat Diagn. 2020. PMID: 32333414 Free PMC article.
An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality.
Ferrer CM, Alders M, Postma AV, Park S, Klein MA, Cetinbas M, Pajkrt E, Glas A, van Koningsbruggen S, Christoffels VM, Mannens MMAM, Knegt L, Etchegaray JP, Sadreyev RI, Denu JM, Mostoslavsky G, van Maarle MC, Mostoslavsky R. Ferrer CM, et al. Among authors: van maarle mc. Genes Dev. 2018 Mar 1;32(5-6):373-388. doi: 10.1101/gad.307330.117. Epub 2018 Mar 19. Genes Dev. 2018. PMID: 29555651 Free PMC article.
Women's Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results.
van Schendel RV, Page-Christiaens GCML, Beulen L, Bilardo CM, de Boer MA, Coumans ABC, Faas BHW, van Langen IM, Lichtenbelt KD, van Maarle MC, Macville MVE, Oepkes D, Pajkrt E, Henneman L; Dutch NIPT Consortium. van Schendel RV, et al. Among authors: van maarle mc. J Genet Couns. 2017 Dec;26(6):1348-1356. doi: 10.1007/s10897-017-0118-3. Epub 2017 Jun 30. J Genet Couns. 2017. PMID: 28667567 Free PMC article.
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