Works matching AU Hofste, Tom

Results: 11
    1

    Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

    Published in:
    Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00485-5
    By:
    • Yaldiz, Burcu;
    • Kucuk, Erdi;
    • Hampstead, Juliet;
    • Hofste, Tom;
    • Pfundt, Rolph;
    • Corominas Galbany, Jordi;
    • Rinne, Tuula;
    • Yntema, Helger G.;
    • Hoischen, Alexander;
    • Nelen, Marcel;
    • Gilissen, Christian;
    • Solve-RD consortium;
    • Riess, Olaf;
    • Haack, Tobias B.;
    • Graessner, Holm;
    • Zurek, Birte;
    • Ellwanger, Kornelia;
    • Ossowski, Stephan;
    • Demidov, German;
    • Sturm, Marc
    Publication type:
    Article
    2

    Genomic instability in non–breast or ovarian malignancies of individuals with germline pathogenic variants in BRCA1/2.

    Published in:
    JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 12, p. 1904, doi. 10.1093/jnci/djae160
    By:
    • Elze, Lisa;
    • Post, Rachel S van der;
    • Vos, Janet R;
    • Mensenkamp, Arjen R;
    • Naga, Samhita Pamidimarri;
    • Hampstead, Juliet E;
    • Vermeulen, Emma;
    • Oorsprong, Michiel;
    • Hofste, Tom;
    • Simons, Michiel;
    • Nagtegaal, Iris D;
    • Hoogerbrugge, Nicoline;
    • Voer, Richarda M de;
    • Ligtenberg, Marjolijn J L
    Publication type:
    Article
    3

    Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 20, doi. 10.3390/ijns10010020
    By:
    • Kiewiet, Gea;
    • Westra, Dineke;
    • de Boer, Eddy N.;
    • van Berkel, Emma;
    • Hofste, Tom G. J.;
    • van Zweeden, Martine;
    • Derks, Ronny C.;
    • Leijsten, Nico F. A.;
    • Ruiterkamp-Versteeg, Martina H. A.;
    • Charbon, Bart;
    • Johansson, Lennart;
    • Bos-Kruizinga, Janneke;
    • Veenstra, Inge J.;
    • de Sain-van der Velden, Monique G. M.;
    • Voorhoeve, Els;
    • Heiner-Fokkema, M. Rebecca;
    • van Spronsen, Francjan;
    • Sikkema-Raddatz, Birgit;
    • Nelen, Marcel
    Publication type:
    Article
    4

    Presence of Genetic Variants Among Young Men With Severe COVID-19.

    Published in:
    2020
    By:
    • van der Made, Caspar I.;
    • Simons, Annet;
    • Schuurs-Hoeijmakers, Janneke;
    • van den Heuvel, Guus;
    • Mantere, Tuomo;
    • Kersten, Simone;
    • van Deuren, Rosanne C.;
    • Steehouwer, Marloes;
    • van Reijmersdal, Simon V.;
    • Jaeger, Martin;
    • Hofste, Tom;
    • Astuti, Galuh;
    • Corominas Galbany, Jordi;
    • van der Schoot, Vyne;
    • van der Hoeven, Hans;
    • Hagmolen of ten Have, Wanda;
    • Klijn, Eva;
    • van den Meer, Catrien;
    • Fiddelaers, Jeroen;
    • de Mast, Quirijn
    Publication type:
    journal article
    5

    Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

    Published in:
    Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
    By:
    • Schobers, Gaby;
    • Schieving, Jolanda H.;
    • Yntema, Helger G.;
    • Pennings, Maartje;
    • Pfundt, Rolph;
    • Derks, Ronny;
    • Hofste, Tom;
    • de Wijs, Ilse;
    • Wieskamp, Nienke;
    • van den Heuvel, Simone;
    • Galbany, Jordi Corominas;
    • Gilissen, Christian;
    • Nelen, Marcel;
    • Brunner, Han G.;
    • Kleefstra, Tjitske;
    • Kamsteeg, Erik-Jan;
    • Willemsen, Michèl A. A. P.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article
    6

    Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
    By:
    • Schobers, Gaby;
    • Schieving, Jolanda H.;
    • Yntema, Helger G.;
    • Pennings, Maartje;
    • Pfundt, Rolph;
    • Derks, Ronny;
    • Hofste, Tom;
    • de Wijs, Ilse;
    • Wieskamp, Nienke;
    • van den Heuvel, Simone;
    • Galbany, Jordi Corominas;
    • Gilissen, Christian;
    • Nelen, Marcel;
    • Brunner, Han G.;
    • Kleefstra, Tjitske;
    • Kamsteeg, Erik-Jan;
    • Willemsen, Michèl A. A. P.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article
    7

    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
    8

    Genome sequencing as a generic diagnostic strategy for rare disease.

    Published in:
    Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01301-y
    By:
    • Schobers, Gaby;
    • Derks, Ronny;
    • den Ouden, Amber;
    • Swinkels, Hilde;
    • van Reeuwijk, Jeroen;
    • Bosgoed, Ermanno;
    • Lugtenberg, Dorien;
    • Sun, Su Ming;
    • Corominas Galbany, Jordi;
    • Weiss, Marjan;
    • Blok, Marinus J.;
    • Olde Keizer, Richelle A. C. M.;
    • Hofste, Tom;
    • Hellebrekers, Debby;
    • de Leeuw, Nicole;
    • Stegmann, Alexander;
    • Kamsteeg, Erik-Jan;
    • Paulussen, Aimee D. C.;
    • Ligtenberg, Marjolijn J. L.;
    • Bradley, Xiangqun Zheng
    Publication type:
    Article
    9
    10

    Innovative all‐in‐one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10‐month experience.

    Published in:
    Andrology, 2025, v. 13, n. 5, p. 1078, doi. 10.1111/andr.13742
    By:
    • Oud, Manon S.;
    • de Leeuw, Nicole;
    • Smeets, Dominique F. C. M.;
    • Ramos, Liliana;
    • van der Heijden, Godfried W.;
    • Timmermans, Raoul G. J.;
    • van de Vorst, Maartje;
    • Hofste, Tom;
    • Kempers, Marlies J. E.;
    • Stokman, Marijn F.;
    • D'Hauwers, Kathleen W. M.;
    • Faas, Brigitte H. W.;
    • Westra, Dineke
    Publication type:
    Article
    11

    Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

    Published in:
    Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 655, doi. 10.1093/brain/awp336
    By:
    • Leen, Wilhelmina G.;
    • Klepper, Joerg;
    • Verbeek, Marcel M.;
    • Leferink, Maike;
    • Hofste, Tom;
    • van Engelen, Baziel G.;
    • Wevers, Ron A.;
    • Arthur, Todd;
    • Bahi-Buisson, Nadia;
    • Ballhausen, Diana;
    • Bekhof, Jolita;
    • van Bogaert, Patrick;
    • Carrilho, Inês;
    • Chabrol, Brigitte;
    • Champion, Michael P.;
    • Coldwell, James;
    • Clayton, Peter;
    • Donner, Elizabeth;
    • Evangeliou, Athanasios;
    • Ebinger, Friedrich
    Publication type:
    Article