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

Clinical Geneticist

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

Research

Publications
  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

View all (139) »

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

View all (2) »

Activities
  1. Smell and puberty in CHARGE syndrome

    Jorieke Kammen-Bergman, van (Speaker), Conny Ravenswaaij-Arts, van (Speaker)
    25-Jul-2009

    Activity: Talk or presentationProfessional

  2. Genetic testing in CHARGE syndrome

    Conny Ravenswaaij-Arts, van (Speaker), Jorieke Kammen-Bergman, van (Speaker)
    24-Jul-2009

    Activity: Talk or presentationProfessional

  3. American Journal of Medical Genetics (Journal)

    Cornelia Arts (Guest editor)
    Dec-2017

    Activity: Publication peer-review and editorial workEditorial activityAcademic

View all (13) »

Press / Media
  1. Zorgen voor Indy

    Conny Ravenswaaij-Arts, van

    17/09/2020

    1 Media contribution

    Press/Media: Expert CommentProfessional

  2. Video chromosoom 6 Project

    Cornelia Arts

    01/08/2015

    1 Media contribution

    Press/Media: Expert CommentPopular

  3. Interview with Conny van Ravenswaaij

    Cornelia Arts

    18/06/2015

    1 Media contribution

    Press/Media: Expert CommentPopular

View all (4) »

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