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

Clinical Geneticist

E-mail:
c.m.a.van.ravenswaaij umcg.nl

Research

Publications
  1. Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

    Bever, Y. V., Brüggenwirth, H. T., Wolffenbuttel, K. P., Dessens, A. B., Groenenberg, I. A. L., Knapen, M. F. C. M., De Baere, E., Cools, M., van Ravenswaaij-Arts, C. M. A., Sikkema-Raddatz, B., Claahsen-van der Grinten, H., Kempers, M., Rinne, T., Hersmus, R., Looijenga, L. & Hannema, S. E., 17-Apr-2020, In : JOURNAL OF MEDICAL GENETICS. 9 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  2. A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of warkany-down syndrome and mechanism of origin

    McGregor-Schuerman, M., Sang, A. L. F., Bihari, S., Ramdajal, N., Suijkerbuijk, R. F. & van Ravenswaaij-Arts, C. M., 30-Mar-2020, In : European journal of medical genetics. 5 p., 103922.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

    Hitzert, M. M., van der Crabben, S. N., Baldewsingh, G., van Amstel, H. K. P., van den Wijngaard, A., van Ravenswaaij-Arts, C. M. A. & Zijlmans, C. W. R., 19-Dec-2019, In : Orphanet journal of rare diseases. 14, 1, 9 p., 294.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. Clinical Genetics Educational external assessment (EQA)-assuring improvement in the Clinical Service

    Hastings, R. H., van Ravenswaaij-Arts, C., van Asperen, C., Garavelli, L., Neilsen, M., Peterlin, B. & Writzl, K., Jul-2019, In : European Journal of Human Genetics. 27, p. 699-700 2 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  5. Neuroradiologic abnormalities in CHARGE syndrome and guidelines for cranial imaging

    de Geus, C. M., Free, R. H., Verbist, B. M., Meiners, L. C. & van Ravenswaaij-Arts, C. M. A., Jul-2019, In : European Journal of Human Genetics. 27, p. 348-349 2 p.

    Research output: Contribution to journalMeeting AbstractAcademic

View all (137) »

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

    Cornelia Arts (Recipient), Jun-2016

    Prize: National/international honourAcademic

  2. Star in CHARGE Award

    Cornelia Arts (Recipient), Aug-2015

    PrizeAcademic

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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

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Press / Media
  1. Video chromosoom 6 Project

    Cornelia Arts

    01/08/2015

    1 Media contribution

    Press/Media: Expert CommentPopular

  2. Interview with Conny van Ravenswaaij

    Cornelia Arts

    18/06/2015

    1 Media contribution

    Press/Media: Expert CommentPopular

  3. Expertisecentra zeldzame aandoeningen: op weg naar Europees keurmerk

    Cornelia Arts

    01/03/2015

    1 Media contribution

    Press/Media: Expert CommentPopular

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