prof. dr. C.M.A. (Conny M.A.) van Ravenswaaij-Arts

Clinical Geneticist

Research

Publications
  1. Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach

    Dijk, D. R., Bocca, G. & van Ravenswaaij-Arts, C. M., 2019, In : Journal of multidisciplinary healthcare. 12, p. 607-620 14 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  2. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

    Vissers, L. E. L. M., de Vries, B. B. A., Osoegawa, K., Janssen, I. M., Feuth, T., Choy, C. O., Straatman, H., van der Vliet, W., Huys, E. H. L. P. G., van Rijk, A., Smeets, D., van Ravenswaaij-Arts, C. M. A., Knoers, N. V., van der Burgt, I., de Jong, P. J., Brunner, H. G., van Kessel, A. G., Schoenmakers, E. F. P. M. & Veltman, J. A., Dec-2003, In : American Journal of Human Genetics. 73, 6, p. 1261-70 10 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

    Koolen, D. A., Nillesen, W. M., Versteeg, M. H. A., Merkx, G. F. M., Knoers, N. V. A. M., Kets, M., Vermeer, S., van Ravenswaaij, C. M. A., de Kovel, C. G., Brunner, H. G., Smeets, D., de Vries, B. B. A. & Sistermans, E. A., Dec-2004, In : JOURNAL OF MEDICAL GENETICS. 41, 12, p. 892-9 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

    Deelen, P., van Dam, S., Herkert, J. C., Karjalainen, J. M., Brugge, H., Abbott, K. M., van Diemen, C. C., van der Zwaag, P. A., Gerkes, E. H., Zonneveld-Huijssoon, E., Boer-Bergsma, J. J., Folkertsma, P., Gillett, T., van der Velde, K. J., Kanninga, R., van den Akker, P. C., Jan, S. Z., Hoorntje, E. T., Te Rijdt, W. P., Vos, Y. J., Jongbloed, J. D. H., van Ravenswaaij-Arts, C. M. A., Sinke, R., Sikkema-Raddatz, B., Kerstjens-Frederikse, W. S., Swertz, M. A. & Franke, L., 28-Jun-2019, In : Nature Communications. 10, 1, 13 p., 2837.

    Research output: Contribution to journalArticleAcademicpeer-review

  5. An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry

    Penders, B., Dijk, D. R., Bocca, G., Zimmermann, L. J. I., van Ravenswaaij-Arts, C. M. A. & Gerver, W-J. M., Aug-2019, In : American Journal of Medical Genetics. Part A. 179, 8, p. 1459-1465 7 p.

    Research output: Contribution to journalArticleAcademicpeer-review

View all (132) »

Datasets
  1. Data from: SYNGAP1 encephalopathy: a distinctive generalized developmental and epileptic encephalopathy

    Vlaskamp, D. (Creator), Shaw, B. J. (Creator), Burgess, R. (Creator), Mei, D. (Creator), Montomoli, M. (Creator), Xie, H. (Creator), Myers, C. T. (Creator), Bennett, M. (Creator), XiangWei, W. (Creator), Williams, D. (Creator), Maas, S. M. (Creator), Brooks, A. S. (Creator), Mancini, G. (Creator), van de Laar, I. M. B. H. (Creator), Hagen, J. M. (Creator), Ware, T. (Creator), Webster, R. (Creator), MALONE, S. (Creator), Berkovic, S. F. (Creator), Kalnins, R. M. (Creator), Sicca, F. (Creator), Korenke, G. C. (Creator), Ravenswaaij-Arts, van, C. (Creator), Hildebrand, M. S. (Creator), Mefford, H. C. (Creator), Jiang, Y. (Creator), Guerrini, R. (Creator), Scheffer, I. E. (Creator), University of Groningen, 18-Dec-2018

    Dataset

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Prizes
  1. Honorary Membership

    Conny Ravenswaaij-Arts, van (Recipient), Jun-2016

    Prize: National/international honourAcademic

  2. Star in CHARGE Award

    Conny Ravenswaaij-Arts, van (Recipient), Aug-2015

    PrizeAcademic

View all (2) »

Activities
  1. American Journal of Medical Genetics (Journal)

    Cornelia Arts (Guest editor)
    Dec-2017

    Activity: Publication peer-review and editorial workEditorial activityAcademic

  2. European Society of Human Genetics (External organisation)

    Cornelia Arts (Member)
    20102016

    Activity: MembershipMembership of committeeAcademic

  3. Stichting Fonds Doctor Catharine van Tussenbroek (External organisation)

    Cornelia Arts (Chair)
    20102016

    Activity: MembershipMembership of boardAcademic

View all (11) »

Press / Media
  1. Video chromosoom 6 Project

    Conny Ravenswaaij-Arts, van

    01/08/2015

    1 media contribution

    Press/Media: Expert CommentPopular

  2. Interview with Conny van Ravenswaaij

    Conny Ravenswaaij-Arts, van

    18/06/2015

    1 media contribution

    Press/Media: Expert CommentPopular

  3. Expertisecentra zeldzame aandoeningen: op weg naar Europees keurmerk

    Conny Ravenswaaij-Arts, van

    01/03/2015

    1 media contribution

    Press/Media: Expert CommentPopular

View all (3) »

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