Human Mutation, 1059-7794

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Related Publications
  1. Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?

    Keppens, C., Tack, V., Dufraing, K., Rouleau, E., Ligtenberg, M. J. L., Schuuring, E. & Dequeker, E. M. C., 14-Oct-2019, In : Human Mutation. 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

    Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Lekanne Deprez, R. H., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T., Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., Dec-2019, In : Human Mutation. 40, 12, p. 2230-2238 9 p.

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  3. Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants

    Granadillo, J. L., Chung, W. K., Hecht, L., Corsten-Janssen, N., Wegner, D., Bijvank, S. W. A. N., Toler, T. L., Pineda-Alvarez, D. E., Douglas, G., Murphy, J. J., Shimony, J. & Shinawi, M., Dec-2018, In : Human Mutation. 39, 12, p. 1875-1884 10 p.

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  4. Massively parallel sequencing of ataxia genes after array-based enrichment

    Hoischen, A., Gilissen, C., Arts, P., Wieskamp, N., van der Vliet, W., Vermeer, S., Steehouwer, M., de Vries, P., Meijer, R., Seiqueros, J., Knoers, N. V. A. M., Buckley, M. F., Scheffer, H. & Veltman, J. A., Apr-2010, In : Human Mutation. 31, 4, p. 494-499 6 p.

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  5. Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

    Overwater, E., Marsili, L., Baars, M. J. H., Baas, A. F., van de Beek, I., Dulfer, E., van Hagen, J. M., Hilhorst-Hofstee, Y., Kempers, M., Krapels, I. P., Menke, L. A., Verhagen, J. M. A., Yeung, K. K., Zwijnenburg, P. J. G., Groenink, M., van Rijn, P., Weiss, M. M., Voorhoeve, E., van Tintelen, J. P., Houweling, A. C. & Maugeri, A., Sep-2018, In : Human Mutation. 39, 9, p. 1173-1192 20 p.

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