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Page 1
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.
PCR-Free Shallow Whole Genome Sequencing for Chromosomal Copy Number Detection from Plasma of Cancer Patients Is an Efficient Alternative to the Conventional PCR-Based Approach.
Beagan JJ, Drees EEE, Stathi P, Eijk PP, Meulenbroeks L, Kessler F, Middeldorp JM, Pegtel DM, Zijlstra JM, Sie D, Heideman DAM, Thunnissen E, Smit L, de Jong D, Mouliere F, Ylstra B, Roemer MGM, van Dijk E. Beagan JJ, et al. Among authors: sie d. J Mol Diagn. 2021 Nov;23(11):1553-1563. doi: 10.1016/j.jmoldx.2021.08.008. Epub 2021 Aug 26. J Mol Diagn. 2021. PMID: 34454114 Free article.
Publisher Correction: BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia.
Roohollahi K, de Jong Y, Pai G, Zaini MA, de Lint K, Sie D, Rooimans MA, Rockx D, Hoskins EE, Ameziane N, Wolthuis R, Joenje H, Wells SI, Dorsman J. Roohollahi K, et al. Among authors: sie d. Sci Rep. 2022 Apr 6;12(1):5768. doi: 10.1038/s41598-022-09471-8. Sci Rep. 2022. PMID: 35388046 Free PMC article. No abstract available.
Fusion transcripts and their genomic breakpoints in polyadenylated and ribosomal RNA-minus RNA sequencing data.
Hoogstrate Y, Komor MA, Böttcher R, van Riet J, van de Werken HJG, van Lieshout S, Hoffmann R, van den Broek E, Bolijn AS, Dits N, Sie D, van der Meer D, Pepers F, Bangma CH, van Leenders GJLH, Smid M, French PJ, Martens JWM, van Workum W, van der Spek PJ, Janssen B, Caldenhoven E, Rausch C, de Jong M, Stubbs AP, Meijer GA, Fijneman RJA, Jenster GW. Hoogstrate Y, et al. Among authors: sie d. Gigascience. 2021 Dec 9;10(12):giab080. doi: 10.1093/gigascience/giab080. Gigascience. 2021. PMID: 34891161 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.
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.
[No title available]
[No authors listed] [No authors listed] PMID: 35109061
Large-scale mutagenesis in p19(ARF)- and p53-deficient mice identifies cancer genes and their collaborative networks.
Uren AG, Kool J, Matentzoglu K, de Ridder J, Mattison J, van Uitert M, Lagcher W, Sie D, Tanger E, Cox T, Reinders M, Hubbard TJ, Rogers J, Jonkers J, Wessels L, Adams DJ, van Lohuizen M, Berns A. Uren AG, et al. Among authors: sie d. Cell. 2008 May 16;133(4):727-41. doi: 10.1016/j.cell.2008.03.021. Cell. 2008. PMID: 18485879 Free PMC article.
60 results