Found: 5

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  • 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

  • Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations.

    Published in:
    2016
    By:
    • Neveling, Kornelia;
    • Tjwan Thung, Djie;
    • Beulen, Lean;
    • Rens‐Buijsman, Wendy;
    • Gomes, Ingrid;
    • Heuvel, Simone;
    • Mieloo, Hanneke;
    • Derks‐Prinsen, Irma;
    • Kater‐Baats, Ellen;
    • Faas, Brigitte H. W.
    Publication type:
    journal article

  • Genome sequencing identifies major causes of severe intellectual disability.

    Published in:
    Nature, 2014, v. 511, n. 7509, p. 344, doi. 10.1038/nature13394
    By:
    • Gilissen, Christian;
    • Hehir-Kwa, Jayne Y.;
    • Thung, Djie Tjwan;
    • van de Vorst, Maartje;
    • van Bon, Bregje W. M.;
    • Willemsen, Marjolein H.;
    • Kwint, Michael;
    • Janssen, Irene M.;
    • Hoischen, Alexander;
    • Schenck, Annette;
    • Leach, Richard;
    • Klein, Robert;
    • Tearle, Rick;
    • Bo, Tan;
    • Pfundt, Rolph;
    • Yntema, Helger G.;
    • de Vries, Bert B. A.;
    • Kleefstra, Tjitske;
    • Brunner, Han G.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article

  • BRCA Testing by Single-Molecule Molecular Inversion Probes.

    Published in:
    Clinical Chemistry, 2017, v. 63, n. 2, p. 503, doi. 10.1373/clinchem.2016.263897
    By:
    • Neveling, Kornelia;
    • Mensenkamp, Arjen R.;
    • Derks, Ronny;
    • Kwint, Michael;
    • Ouchene, Hicham;
    • Steehouwer, Marloes;
    • van Lier, Bart;
    • Bosgoed, Ermanno;
    • Rikken, Alwin;
    • Tychon, Marloes;
    • Zafeiropoulou, Dimitra;
    • Castelein, Steven;
    • Hehir-Kwa, Jayne;
    • Thung, Djie Tjwan;
    • Hofste, Tom;
    • Lelieveld, Stefan H.;
    • Bertens, Stijn M. M.;
    • Adan, Ivo B. J. F.;
    • Eijkelenboom, Astrid;
    • Tops, Bastiaan B.
    Publication type:
    Article

  • Mobster: accurate detection of mobile element insertions in next generation sequencing data.

    Published in:
    Genome Biology, 2014, v. 15, n. 10, p. 2, doi. 10.1186/s13059-014-0488-x
    By:
    • Djie Tjwan Thung;
    • Ligt, Joep de;
    • Vissers, Lisenka E. M.;
    • Steehouwer, Marloes;
    • Kroon, Mark;
    • de Vries, Petra;
    • Slagboom, Eline P.;
    • Kai Ye;
    • Veltman, Joris A.;
    • Hehir-Kwa, Jayne Y.
    Publication type:
    Article