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

Clinical Geneticist

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  1. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

    Vissers, L. E. L. M., van Ravenswaaij, C. M. A., Admiraal, R., Hurst, J. A., de Vries, B. B. A., Janssen, I. M., van der Vliet, W. A., Huys, E. H. L. P. G., de Jong, P. J., Hamel, B. C. J., Schoenmakers, E. F. P. M., Brunner, H. G., Veltman, J. A. & van Kessel, A. G., Sep-2004, In : Nature Genetics. 36, 9, p. 955-957 3 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Exome sequencing identifies the first genetic determinants of sirenomelia in humans

    Lecoquierre, F., Brehin, A-C., Coutant, S., Coursimault, J., Bazin, A., Finck, W., Benoist, G., Begorre, M., Beneteau, C., Cailliez, D., Chenal, P., De Jong, M., Degre, S., Devisme, L., Francannet, C., Gerard, B., Jeanne, C., Joubert, M., Journel, H., Laurichesse Delmas, H., Layet, V., Liquier, A., Mangione, R., Patrier, S., Pelluard, F., Petit, F., Tillouche, N., Van Ravenswaaij-Arts, C., Frebourg, T., Saugier-Veber, P., Gruchy, N., Nicolas, G. & Gerard, M., May-2020, In : Human Mutation. 41, 5, p. 926-933 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  3. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    SYNAPS Study Grp & Ravenswaaij-Arts, van, C., 6-Aug-2020, In : American Journal of Human Genetics. 107, 2, p. 311-324 14 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  4. 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., Sep-2020, In : JOURNAL OF MEDICAL GENETICS. 57, 9, p. 581-589 9 p.

    Research output: Contribution to journalReview articleAcademicpeer-review

  5. 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., Jun-2020, In : European journal of medical genetics. 63, 6, 5 p., 103922.

    Research output: Contribution to journalArticleAcademicpeer-review

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  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


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  1. Honorary Membership

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

    Prize: National/international honourAcademic

  2. Star in CHARGE Award

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


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  1. Smell and puberty in CHARGE syndrome

    Jorieke Kammen-Bergman, van (Speaker) & Conny Ravenswaaij-Arts, van (Speaker)


    Activity: Talk or presentationProfessional

  2. Genetic testing in CHARGE syndrome

    Conny Ravenswaaij-Arts, van (Speaker) & Jorieke Kammen-Bergman, van (Speaker)


    Activity: Talk or presentationProfessional

  3. American Journal of Medical Genetics (Journal)

    Cornelia Arts (Guest editor)


    Activity: Publication peer-review and editorial workEditorial activityAcademic

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Press / Media
  1. Zorgen voor Indy

    Conny Ravenswaaij-Arts, van


    1 Media contribution

    Press/Media: Expert CommentProfessional

  2. Video chromosoom 6 Project

    Cornelia Arts


    1 Media contribution

    Press/Media: Expert CommentPopular

  3. Interview with Conny van Ravenswaaij

    Cornelia Arts


    1 Media contribution

    Press/Media: Expert CommentPopular

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