Found: 15

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  • Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.

    Published in:
    Journal of Pathology, 2021, v. 255, n. 2, p. 202, doi. 10.1002/path.5755
    By:
    • Sabatella, Mariangela;
    • Mantere, Tuomo;
    • Waanders, Esmé;
    • Neveling, Kornelia;
    • Mensenkamp, Arjen R;
    • van Dijk, Freerk;
    • Hehir‐Kwa, Jayne Y;
    • Derks, Ronnie;
    • Kwint, Michael;
    • O'Gorman, Luke;
    • Tropa Martins, Madalena;
    • Gidding, Corrie EM;
    • Lequin, Maarten H;
    • Küsters, Benno;
    • Wesseling, Pieter;
    • Nelen, Marcel;
    • Biegel, Jacklyn A;
    • Hoischen, Alexander;
    • Jongmans, Marjolijn C;
    • Kuiper, Roland P
    Publication type:
    Article

  • Minimal residual disease (MRD) detection in acute lymphoblastic leukaemia based on fusion genes and genomic deletions: towards MRD for all.

    Published in:
    British Journal of Haematology, 2021, v. 194, n. 5, p. 888, doi. 10.1111/bjh.17744
    By:
    • Kuiper, Roland P.;
    • Hoogeveen, Patricia G.;
    • Bladergroen, Reno;
    • van Dijk, Freerk;
    • Sonneveld, Edwin;
    • van Leeuwen, Frank N.;
    • Boer, Judith;
    • Sergeeva, Irina;
    • Feitsma, Harma;
    • den Boer, Monique L.;
    • van der Velden, Vincent H. J.
    Publication type:
    Article

  • A common variant in CCDC93 protects against myocardial infarction and cardiovascular mortality by regulating endosomal trafficking of low-density lipoprotein receptor.

    Published in:
    European Heart Journal, 2020, v. 41, n. 9, p. 1040, doi. 10.1093/eurheartj/ehz727
    By:
    • Rimbert, Antoine;
    • Dalila, Nawar;
    • Wolters, Justina C;
    • Huijkman, Nicolette;
    • Smit, Marieke;
    • Kloosterhuis, Niels;
    • Riemsma, Marijn;
    • van der Veen, Ydwine;
    • Singla, Amika;
    • Dijk, Freerk van;
    • Consortium, Biobank-Based Integrative Omics Studies;
    • Frikke-Schmidt, Ruth;
    • Burstein, Ezra;
    • Tybjærg-Hansen, Anne;
    • van de Sluis, Bart;
    • Kuivenhoven, Jan Albert
    Publication type:
    Article

  • Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1321, doi. 10.1038/ejhg.2014.19
    By:
    • Deelen, Patrick;
    • Menelaou, Androniki;
    • van Leeuwen, Elisabeth M;
    • Kanterakis, Alexandros;
    • van Dijk, Freerk;
    • Medina-Gomez, Carolina;
    • Francioli, Laurent C;
    • Hottenga, Jouke Jan;
    • Karssen, Lennart C;
    • Estrada, Karol;
    • Kreiner-Møller, Eskil;
    • Rivadeneira, Fernando;
    • van Setten, Jessica;
    • Gutierrez-Achury, Javier;
    • Westra, Harm-Jan;
    • Franke, Lude;
    • van Enckevort, David;
    • Dijkstra, Martijn;
    • Byelas, Heorhiy;
    • van Duijn, Cornelia M
    Publication type:
    Article

  • The Genome of the Netherlands: design, and project goals.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 2, p. 221, doi. 10.1038/ejhg.2013.118
    By:
    • Boomsma, Dorret I;
    • Wijmenga, Cisca;
    • Slagboom, Eline P;
    • Swertz, Morris A;
    • Karssen, Lennart C;
    • Abdellaoui, Abdel;
    • Ye, Kai;
    • Guryev, Victor;
    • Vermaat, Martijn;
    • van Dijk, Freerk;
    • Francioli, Laurent C;
    • Hottenga, Jouke Jan;
    • Laros, Jeroen F J;
    • Li, Qibin;
    • Li, Yingrui;
    • Cao, Hongzhi;
    • Chen, Ruoyan;
    • Du, Yuanping;
    • Li, Ning;
    • Cao, Sujie
    Publication type:
    Article

  • Molgenis-impute: imputation pipeline in a box.

    Published in:
    BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-1309-3
    By:
    • Kanterakis, Alexandros;
    • Deelen, Patrick;
    • van Dijk, Freerk;
    • Byelas, Heorhiy;
    • Dijkstra, Martijn;
    • Swertz, Morris A.
    Publication type:
    Article

  • A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.

    Published in:
    Nature Communications, 2016, v. 7, n. 10, p. 12989, doi. 10.1038/ncomms12989
    By:
    • Hehir-Kwa, Jayne Y.;
    • Marschall, Tobias;
    • Kloosterman, Wigard P.;
    • Francioli, Laurent C.;
    • Baaijens, Jasmijn A.;
    • Dijkstra, Louis J.;
    • Abdellaoui, Abdel;
    • Koval, Vyacheslav;
    • Thung, Djie Tjwan;
    • Wardenaar, René;
    • Renkens, Ivo;
    • Coe, Bradley P.;
    • Deelen, Patrick;
    • de Ligt, Joep;
    • Lameijer, Eric-Wubbo;
    • van Dijk, Freerk;
    • Hormozdiari, Fereydoun;
    • Uitterlinden, André G.;
    • van Duijn, Cornelia M.;
    • Eichler, Evan E.
    Publication type:
    Article

  • Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.

    Published in:
    Nature Communications, 2015, v. 6, n. 3, p. 1, doi. 10.1038/ncomms7065
    By:
    • van Leeuwen, Elisabeth M.;
    • Karssen, Lennart C.;
    • Deelen, Joris;
    • Isaacs, Aaron;
    • Medina-Gomez, Carolina;
    • Mbarek, Hamdi;
    • Kanterakis, Alexandros;
    • Trompet, Stella;
    • Postmus, Iris;
    • Verweij, Niek;
    • van Enckevort, David J.;
    • Huffman, Jennifer E.;
    • White, Charles C.;
    • Feitosa, Mary F.;
    • Bartz, Traci M.;
    • Manichaikul, Ani;
    • Joshi, Peter K.;
    • Peloso, Gina M.;
    • Deelen, Patrick;
    • van Dijk, Freerk
    Publication type:
    Article

  • Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

    Published in:
    Annals of Neurology, 2012, v. 72, n. 6, p. 870, doi. 10.1002/ana.23700
    By:
    • Duarri, Anna;
    • Jezierska, Justyna;
    • Fokkens, Michiel;
    • Meijer, Michel;
    • Schelhaas, Helenius J.;
    • den Dunnen, Wilfred F. A.;
    • van Dijk, Freerk;
    • Verschuuren-Bemelmans, Corien;
    • Hageman, Gerard;
    • van de Vlies, Pieter;
    • Küsters, Benno;
    • van de Warrenburg, Bart P.;
    • Kremer, Berry;
    • Wijmenga, Cisca;
    • Sinke, Richard J.;
    • Swertz, Morris A.;
    • Kampinga, Harm H.;
    • Boddeke, Erik;
    • Verbeek, Dineke S.
    Publication type:
    Article

  • Feasibility of predicting allele specific expression from DNA sequencing using machine learning.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89904-y
    By:
    • Zhang, Zhenhua;
    • van Dijk, Freerk;
    • de Klein, Niek;
    • van Gijn, Mariëlle E;
    • Franke, Lude H;
    • Sinke, Richard J;
    • Swertz, Morris A;
    • van der Velde, K Joeri
    Publication type:
    Article

  • Genome-wide analysis of constitutional DNA methylation in familial melanoma.

    Published in:
    Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00831-7
    By:
    • Salgado, Catarina;
    • Gruis, Nelleke;
    • BIOS Consortium;
    • Bonder, Marc Jan;
    • Luijk, René;
    • Zhernakova, Dasha V.;
    • Moed, Matthijs;
    • Deelen, Patrick;
    • Vermaat, Martijn;
    • van Iterson, Maarten;
    • van Dijk, Freerk;
    • van Galen, Michiel;
    • Bot, Jan;
    • Jhamai, P. Mila;
    • Verbiest, Michael;
    • Suchiman, H. Eka D.;
    • Verkerk, Marijn;
    • van der Breggen, Ruud;
    • van Rooij, Jeroen;
    • Lakenberg, Nico
    Publication type:
    Article

  • Meta-GWAS and Meta-Analysis of Exome Array Studies Do Not Reveal Genetic Determinants of Serum Hepcidin.

    Published in:
    PLoS ONE, 2016, v. 11, n. 11, p. 1, doi. 10.1371/journal.pone.0166628
    By:
    • Galesloot, Tessel E.;
    • Verweij, Niek;
    • Traglia, Michela;
    • Barbieri, Caterina;
    • van Dijk, Freerk;
    • Geurts-Moespot, Anneke J.;
    • Girelli, Domenico;
    • Kiemeney, Lambertus A. L. M.;
    • Sweep, Fred C. G. J.;
    • Swertz, Morris A.;
    • van der Meer, Peter;
    • Camaschella, Clara;
    • Toniolo, Daniela;
    • Vermeulen, Sita H.;
    • van der Harst, Pim;
    • Swinkels, Dorine W.
    Publication type:
    Article

  • NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.

    Published in:
    BMC Bioinformatics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12859-018-2557-8
    By:
    • Johansson, Lennart F.;
    • de Weerd, Hendrik A.;
    • de Boer, Eddy N.;
    • van Dijk, Freerk;
    • te Meerman, Gerard J.;
    • Sijmons, Rolf H.;
    • Sikkema-Raddatz, Birgit;
    • Swertz, Morris A.
    Publication type:
    Article

  • Deleterious Alleles in the Human Genome Are on Average Younger Than Neutral Alleles of the Same Frequency.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003301
    By:
    • Kiezun, Adam;
    • Pulit, Sara L.;
    • Francioli, Laurent C.;
    • van Dijk, Freerk;
    • Swertz, Morris;
    • Boomsma, Dorret I.;
    • van Duijn, Cornelia M.;
    • Slagboom, P. Eline;
    • van Ommen, G. J. B.;
    • Wijmenga, Cisca;
    • de Bakker, Paul I. W.;
    • Sunyaev, Shamil R.
    Publication type:
    Article

  • Cohort Profile: LifeLines, a three-generation cohort study and biobank.

    Published in:
    2015
    By:
    • Scholtens, Salome;
    • Smidt, Nynke;
    • Swertz, Morris A.;
    • Bakker, Stephan J. L.;
    • Dotinga, Aafje;
    • Vonk, Judith M.;
    • van Dijk, Freerk;
    • van Zon, Sander K. R.;
    • Wijmenga, Cisca;
    • Wolffenbuttel, Bruce H. R.;
    • Stolk, Ronald P.;
    • Bakker, Stephan Jl;
    • van Zon, Sander Kr;
    • Wolffenbuttel, Bruce Hr
    Publication type:
    journal article