prof. dr. V.V.A.M. Knoers

Research

Publications
  1. 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.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

    Gilissen, C., Arts, H. H., Hoischen, A., Spruijt, L., Mans, D. A., Arts, P., van Lier, B., Steehouwer, M., van Reeuwijk, J., Kant, S. G., Roepman, R., Knoers, N. V. A. M., Veltman, J. A. & Brunner, H. G., 10-Sep-2010, In : American Journal of Human Genetics. 87, 3, p. 418-423 6 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Common variants in DGKK are strongly associated with risk of hypospadias

    van der Zanden, L. F. M., van Rooij, I. A. L. M., Feitz, W. F. J., Knight, J., Donders, A. R. T., Renkema, K. Y., Bongers, E. M. H. F., Vermeulen, S. H. H. M., Kiemeney, L. A. L. M., Veltman, J. A., Arias-Vásquez, A., Zhang, X., Markljung, E., Qiao, L., Baskin, L. S., Nordenskjöld, A., Roeleveld, N., Franke, B. & Knoers, N. V. A. M., Jan-2011, In : Nature Genetics. 43, 1, p. 48-50 3 p.

    Research output: Contribution to journalLetterAcademicpeer-review

  4. Clinical utility gene card for: Gitelman syndrome

    Knoers, N. V., Devuyst, O. & Kamsteeg, E-J., Aug-2011, In : EJHG. 19, 8, 3 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. Mutations in the pre-replication complex cause Meier-Gorlin syndrome

    Bicknell, L. S., Bongers, E. M. H. F., Leitch, A., Brown, S., Schoots, J., Harley, M. E., Aftimos, S., Al-Aama, J. Y., Bober, M., Brown, P. A. J., van Bokhoven, H., Dean, J., Edrees, A. Y., Feingold, M., Fryer, A., Hoefsloot, L. H., Kau, N., Knoers, N. V. A. M., Mackenzie, J., Opitz, J. M., Sarda, P., Ross, A., Temple, I. K., Toutain, A., Wise, C. A., Wright, M. & Jackson, A. P., 27-Feb-2011, In : Nature Genetics. 43, 4, p. 356-359 4 p.

    Research output: Contribution to journalArticleAcademicpeer-review

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