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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
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.
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.
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.
Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?
Srebniak MI, Jehee FS, Joosten M, Boter M, de Valk WG, van der Helm R, Sistermans EA, Voorhoeve E, Bhola S, Hoffer MJV, den Hollander N, Macville MVE, Van Opstal D. Srebniak MI, et al. Among authors: voorhoeve e. Acta Obstet Gynecol Scand. 2021 Nov;100(11):2036-2043. doi: 10.1111/aogs.14256. Epub 2021 Sep 1. Acta Obstet Gynecol Scand. 2021. PMID: 34472080 Free 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.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA. Beunders G, et al. Among authors: voorhoeve e. Am J Hum Genet. 2013 Feb 7;92(2):210-20. doi: 10.1016/j.ajhg.2012.12.011. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332918 Free PMC article.
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
17 results