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Fetal fraction evaluation in non-invasive prenatal screening (NIPS).
Hestand MS, Bessem M, van Rijn P, de Menezes RX, Sie D, Bakker I, Boon EMJ, Sistermans EA, Weiss MM. Hestand MS, et al. Among authors: sie d. Eur J Hum Genet. 2019 Feb;27(2):198-202. doi: 10.1038/s41431-018-0271-7. Epub 2018 Sep 25. Eur J Hum Genet. 2019. PMID: 30254213 Free PMC article.
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing.
Ameziane N, Sie D, Dentro S, Ariyurek Y, Kerkhoven L, Joenje H, Dorsman JC, Ylstra B, Gille JJ, Sistermans EA, de Winter JP. Ameziane N, et al. Among authors: sie d. Anemia. 2012;2012:132856. doi: 10.1155/2012/132856. Epub 2012 Jun 3. Anemia. 2012. PMID: 22720145 Free PMC article.
Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis.
Holstege H, Pfeiffer W, Sie D, Hulsman M, Nicholas TJ, Lee CC, Ross T, Lin J, Miller MA, Ylstra B, Meijers-Heijboer H, Brugman MH, Staal FJ, Holstege G, Reinders MJ, Harkins TT, Levy S, Sistermans EA. Holstege H, et al. Among authors: sie d. Genome Res. 2014 May;24(5):733-42. doi: 10.1101/gr.162131.113. Epub 2014 Apr 23. Genome Res. 2014. PMID: 24760347 Free PMC article.
Circular RNA Sequencing of Maternal Platelets: A Novel Tool for the Identification of Pregnancy-Specific Biomarkers.
Oudejans C, Manders V, Visser A, Keijser R, Min N, Poutsma A, Mulders J, van den Berkmortel T, Wigman DJ, Blanken B, Jongejan A, Pajkrt E, de Boer M, Sistermans EA, Sie D, Best MG, Würdinger T, Afink G. Oudejans C, et al. Among authors: sie d. Clin Chem. 2021 Mar 1;67(3):508-517. doi: 10.1093/clinchem/hvaa249. Clin Chem. 2021. PMID: 33257975
The bivariate NRIP1/ZEB2 RNA marker permits non-invasive presymptomatic screening of pre-eclampsia.
Manders V, Visser A, Keijser R, Min N, Poutsma A, Mulders J, van den Berkmortel T, Hortensius M, Jongejan A, Pajkrt E, Sistermans EA, Sie D, Best MG, Würdinger T, de Boer M, Afink G, Oudejans C. Manders V, et al. Among authors: sie d. Sci Rep. 2020 Dec 14;10(1):21857. doi: 10.1038/s41598-020-79008-4. Sci Rep. 2020. PMID: 33318568 Free PMC article. Clinical Trial.
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, W… See abstract for full author list ➔ Holstege H, et al. Among authors: sie d. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 35109061
Copy number signatures and mutational processes in ovarian carcinoma.
Macintyre G, Goranova TE, De Silva D, Ennis D, Piskorz AM, Eldridge M, Sie D, Lewsley LA, Hanif A, Wilson C, Dowson S, Glasspool RM, Lockley M, Brockbank E, Montes A, Walther A, Sundar S, Edmondson R, Hall GD, Clamp A, Gourley C, Hall M, Fotopoulou C, Gabra H, Paul J, Supernat A, Millan D, Hoyle A, Bryson G, Nourse C, Mincarelli L, Sanchez LN, Ylstra B, Jimenez-Linan M, Moore L, Hofmann O, Markowetz F, McNeish IA, Brenton JD. Macintyre G, et al. Among authors: sie d. Nat Genet. 2018 Sep;50(9):1262-1270. doi: 10.1038/s41588-018-0179-8. Epub 2018 Aug 13. Nat Genet. 2018. PMID: 30104763 Free PMC article.
60 results