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Page 1
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G, Westra D, de Boer EN, van Berkel E, Hofste TGJ, van Zweeden M, Derks RC, Leijsten NFA, Ruiterkamp-Versteeg MHA, Charbon B, Johansson L, Bos-Kruizinga J, Veenstra IJ, de Sain-van der Velden MGM, Voorhoeve E, Heiner-Fokkema MR, van Spronsen F, Sikkema-Raddatz B, Nelen M. Kiewiet G, et al. Among authors: voorhoeve e. Int J Neonatal Screen. 2024 Mar 7;10(1):20. doi: 10.3390/ijns10010020. Int J Neonatal Screen. 2024. PMID: 38535124 Free PMC article.
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.
de Groot-van der Mooren M, de Graaf G, Weijerman ME, Hoffer MJV, Knijnenburg J, van der Kevie-Kersemaekers AMF, Kooper AJA, Voorhoeve E, Sikkema-Raddatz B, van Zutven LJCM, Srebniak MI, Huijsdens-van Amsterdam K, Engelen JJM, Smeets D, van Kaam AH, Cornel MC. de Groot-van der Mooren M, et al. Among authors: voorhoeve e. Prenat Diagn. 2021 Sep;41(10):1351-1359. doi: 10.1002/pd.6003. Epub 2021 Jul 1. Prenat Diagn. 2021. PMID: 34176145 Free PMC article.
Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands.
de Graaf G, Engelen JJM, Gijsbers ACJ, Hochstenbach R, Hoffer MJV, Kooper AJA, Sikkema-Raddatz B, Srebniak MI, van der Kevie-Kersemaekers AMF, van Zutven LJCM, Voorhoeve E. de Graaf G, et al. Among authors: voorhoeve e. J Intellect Disabil Res. 2017 May;61(5):461-470. doi: 10.1111/jir.12371. Epub 2017 Mar 5. J Intellect Disabil Res. 2017. PMID: 28261902
Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study.
Heesterbeek CJ, Tjan-Heijnen VCG, Heimovaara JH, Lenaerts L, Lok C, Vriens IJH, Van Opstal D, Boon EMJ, Sie D, de Die-Smulders CEM, Amant F, Macville MVE; Dutch NIPT Consortium. Heesterbeek CJ, et al. Lancet Reg Health Eur. 2024 Aug 7;45:101024. doi: 10.1016/j.lanepe.2024.101024. eCollection 2024 Oct. Lancet Reg Health Eur. 2024. PMID: 39220433 Free PMC article.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A. Overwater E, et al. Among authors: voorhoeve e. Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907982 Free PMC article.
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Beunders G, de Munnik SA, Van der Aa N, Ceulemans B, Voorhoeve E, Groffen AJ, Nillesen WM, Meijers-Heijboer EJ, Frank Kooy R, Yntema HG, Sistermans EA. Beunders G, et al. Among authors: voorhoeve e. Eur J Hum Genet. 2015 Jun;23(6):803-7. doi: 10.1038/ejhg.2014.173. Epub 2014 Sep 10. Eur J Hum Genet. 2015. PMID: 25205402 Free PMC article.
Quality management in molecular genetics.
Voorhoeve E, Kneppers AL, Patton S. Voorhoeve E, et al. Methods Mol Med. 2004;92:359-68. doi: 10.1385/1-59259-432-8:359. Methods Mol Med. 2004. PMID: 14733321 No abstract available.
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
Marsili L, Overwater E, Hanna N, Baujat G, Baars MJH, Boileau C, Bonneau D, Brehin AC, Capri Y, Cheung HY, Dulfer E, Gerard M, Gouya L, Hilhorst-Hofstee Y, Houweling AC, Isidor B, Le Gloan L, Menke LA, Odent S, Morice-Picard F, Vanlerberghe C, Voorhoeve E, van Tintelen JP, Maugeri A, Arnaud P. Marsili L, et al. Among authors: voorhoeve e. Clin Genet. 2020 May;97(5):723-730. doi: 10.1111/cge.13700. Epub 2020 Jan 16. Clin Genet. 2020. PMID: 31898322
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