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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: sistermans ea. Anemia. 2012;2012:132856. doi: 10.1155/2012/132856. Epub 2012 Jun 3. Anemia. 2012. PMID: 22720145 Free PMC article.
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.
Menko FH, Kneepkens CM, de Leeuw N, Peeters EA, Van Maldergem L, Kamsteeg EJ, Davidson R, Rozendaal L, Lasham CA, Peeters-Scholte CM, Jansweijer MC, Hilhorst-Hofstee Y, Gille JJ, Heins YM, Nieuwint AW, Sistermans EA. Menko FH, et al. Among authors: sistermans ea. Clin Genet. 2008 Aug;74(2):145-54. doi: 10.1111/j.1399-0004.2008.01026.x. Epub 2008 May 28. Clin Genet. 2008. PMID: 18510548 Free article.
Smoothing waves in array CGH tumor profiles.
van de Wiel MA, Brosens R, Eilers PH, Kumps C, Meijer GA, Menten B, Sistermans E, Speleman F, Timmerman ME, Ylstra B. van de Wiel MA, et al. Bioinformatics. 2009 May 1;25(9):1099-104. doi: 10.1093/bioinformatics/btp132. Epub 2009 Mar 10. Bioinformatics. 2009. PMID: 19276148
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: sistermans ea. 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.
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: sistermans ea. 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.
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: sistermans ea. 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: sistermans ea. 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: sistermans ea. 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.
161 results