Abnormal Neurological Development; Early Diagnosis and Intervention (ANDDI)

University of Groningen > Faculty of Medical Sciences > Research Institute for Neurosciences and Healthy Ageing (BCN-BRAIN) > Abnormal Neurological Development; Early Diagnosis and Intervention (ANDDI)

Contact information

Netherlands
Publications
  1. Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy

    Almomani, R., Herkert, J. C., Posafalvi, A., Post, J. G., Boven, L. G., van der Zwaag, P. A., Willems, P. H. G. M., van Veen-Hof, I. H., Verhagen, J. M. A., Wessels, M. W., Nikkels, P. G. J., Wintjes, L. T., van den Berg, M. P., Sinke, R. J., Rodenburg, R. J., Niezen-Koning, K. E., van Tintelen, J. P. & Jongbloed, J. D. H., 7-Sep-2019, In : JOURNAL OF MEDICAL GENETICS. 8 p.

    Research output: Contribution to journalArticleAcademicpeer-review

  2. WHAT IS THE ORIGIN OF SEVERE HYPERCHOLESTEROLEMIA IN A LARGE COHORT OF EMIRATIS WITH A HIGH PREVALANCE OF TYPE 2 DIABETES

    Rimbert, A., Kuivenhoven, J. A., Lansberg, P., Viel, M., Kanninga, R., Johansson, L., Kuipers, F., Bloks, V., van Faassen, M., Koehorst, M., Sinke, R., Daggag, H., Al Tikriti, A. & Barakat, M. T., Aug-2019, In : ATHEROSCLEROSIS. 287, p. E198-E199 2 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  3. GENDER-SPECIFIC DIFFERENCES AT BOTH EXTREME ENDS OF THE LDL CHOLESTEROL DISTRIBUTION CURVE

    Rimbert, A., Balder, J. W., Zhang, X., Wolters, K., Lansberg, P., Viel, M., Kanninga, R., Johansson, L., Bloks, V., van Daasen, M., Koehorst, M., Kuipers, F., Sinke, R., Groen, A., Dallinga-Thie, G. & Kuivenhoven, J. A., Aug-2019, In : ATHEROSCLEROSIS. 287, p. E64-E64 1 p.

    Research output: Contribution to journalMeeting AbstractAcademic

  4. Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

    Fokkema, I. F. A. C., van der Velde, K. J., Slofstra, M. K., Ruivenkamp, C. A. L., Vogel, M. J., Pfundt, R., Blok, M. J., Lekanne Deprez, R. H., Waisfisz, Q., Abbott, K. M., Sinke, R. J., Rahman, R., Nijman, I. J., de Koning, B., Thijs, G., Wieskamp, N., Moritz, R. J. G., Charbon, B., Saris, J. J., den Dunnen, J. T., Laros, J. F. J., Swertz, M. A. & van Gijn, M. E., 21-Aug-2019, In : Human Mutation.

    Research output: Contribution to journalArticleAcademicpeer-review

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Datasets
  1. Replication Data for: Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU)

    Bruinenberg, V. M. (Creator), van Vliet, D. (Creator), Goot, van der, E. (Creator), de Vries, M. (Creator), Counotte, D. S. (Creator), Kuhn, M. (Creator), Spronsen, van, F. (Creator), Zee, van der, E. (Creator), University of Groningen, 25-Jan-2019

    Dataset

  2. 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

View all (2) »

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

  3. NWO-VIDI Laureate

    Marina Koning-Tijssen, de (Recipient), 2004

    PrizeAcademic

View all (7) »

Activities
  1. From whole genome to diagnosis for critically ill newborns in 5 days

    Birgit Sikkema-Raddatz (Speaker)
    16-Apr-2015

    Activity: Talk or presentationAcademic

  2. Next-generation diagnostics.

    Birgit Sikkema-Raddatz (Speaker)
    14-May-2014

    Activity: Talk or presentationAcademic

View all (95) »

Press / Media
  1. DMCN Author Podcast - Deborah Sival (February 2016)

    Deborah Sival

    01/02/2016

    1 media contribution

    Press/Media: ResearchPopular

  2. Video chromosoom 6 Project

    Conny Ravenswaaij-Arts, van

    01/08/2015

    1 media contribution

    Press/Media: Expert CommentPopular

  3. Interview with Conny van Ravenswaaij

    Conny Ravenswaaij-Arts, van

    18/06/2015

    1 media contribution

    Press/Media: Expert CommentPopular

View all (9) »

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