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Clara Karnebeek, van

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Clara van Karnebeek

Principal Investigator, Prof. MD PhD

 https://orcid.org/0000-0002-2648-8337
  • 10309
    Citations
1999 …2026

Research activity per year

Personal profile

Education/Academic qualification

hoogleraar Personalized Medicine voor Genetische Metabole Ziekten in de faculteit Geneeskunde bij de Universiteit van Amsterdam., University of Amsterdam, Faculty of Medicine

Award Date: 18 Jan 2022

Fellow Biochemical Genetics, Canadian College of Medical Genetics

Award Date: 1 Jan 2012

Resident Pediatrics, Nederlandse Vereniging voor Kindergeneeskunde

Award Date: 1 Jan 2009

Master, Medicine, Amsterdam UMC - University of Amsterdam

Award Date: 1 Jan 2003

PhD, Genetics of Intellectual disability, Amsterdam UMC - University of Amsterdam

Award Date: 1 Jan 2002

External positions

Chair Science Committee, Nederlandse Vereniging voor Kindergeneeskunde

Editor Physicians Guide to the Diagnosis Treatment and follow-Up of Inherited Metabolic Diseases

Full Affiliate Professor, BC Children’s Hospital, University of British Columbia, Vancouver CA, dept pediatrics

Ass Professor, BC Children’s Hospital, University of British Columbia, Vancouver CA, dept pediatrics

… → 2019

Editorial Board, Frontiers in Neurology

Chair, International PDE Consortium

Co-chair New Technologies Task Force, Diagnostics Scientific Committee, International Rare Diseases Research Consortium

… → 2022

Professor, Radboud University Nijmegen Medical Centre

Head Dept Metabolic Diseases, Amalia Children’s Hospital, Radboud University Nijmegen Medical Centre

Principal Investigator & Theme Leader Metabolic Disorders, Radboud University Nijmegen Medical Centre

Director Radboud Center for Mitochondrial and Metabolic Medicine, Radboud University Nijmegen Medical Centre

Therapy Board & Medical Research Council, Radboud University Nijmegen Medical Centre

Keywords

  • RJ101 Child Health. Child health services

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Collaborations and top research areas from the last five years

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  • Exome Sequencing and the Management of Neurometabolic Disorders

    Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., Abdelsayed, M., Alfadhel, M., Armstrong, L., Baumgartner, M. R., Burda, P., Connolly, M. B., Cameron, J., Demos, M., Dewan, T. & Dionne, J. & 37 others, Evans, A. M., Friedman, J. M., Garber, I., Lewis, S., Ling, J., Mandal, R., Mattman, A., McKinnon, M., Michoulas, A., Metzger, D., Ogunbayo, O. A., Rakic, B., Rozmus, J., Ruben, P., Sayson, B., Santra, S., Schultz, K. R., Selby, K., Shekel, P., Sirrs, S., Skrypnyk, C., Superti-Furga, A., Turvey, S. E., van Allen, M. I., Wishart, D., Wu, J., Wu, J., Zafeiriou, D., Kluijtmans, L., Wevers, R. A., Eydoux, P., Lehman, A. M., Vallance, H., Stockler-Ipsiroglu, S., Sinclair, G., Wasserman, W. W. & van Karnebeek, C. D., 2016, In: New England journal of medicine. 374, 23, p. 2246-2255

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    80 Downloads (Pure)

  • NANS-mediated synthesis of sialic acid is required for brain and skeletal development

    van Karnebeek, C. D. M., Bonafé, L., Wen, X.-Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., Breen, C., Donnai, D., Cormier, V., Heron, D., Nishimura, G., Uchikawa, S., Campos-Xavier, B., Rossi, A., Hennet, T. & Brand-Arzamendi, K. & 26 others, Rozmus, J., Harshman, K., Stevenson, B. J., Girardi, E., Superti-Furga, G., Dewan, T., Collingridge, A., Halparin, J., Ross, C. J., van Allen, M. I., Rossi, A., Engelke, U. F., Kluijtmans, L. A. J., van der Heeft, E., Renkema, H., de Brouwer, A., Huijben, K., Zijlstra, F., Heisse, T., Boltje, T., Wasserman, W. W., Rivolta, C., Unger, S., Lefeber, D. J., Wevers, R. A. & Superti-Furga, A., 2016, In: Nature genetics. 48, 7, p. 777-+

    Research output: Contribution to journal › Article › Academic › peer-review

    Open Access
    File
    63 Downloads (Pure)

  • Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

    van Karnebeek, C. D., Sly, W. S., Ross, C. J., Salvarinova, R., Yaplito-Lee, J., Santra, S., Shyr, C., Horvath, G. A., Eydoux, P., Lehman, A. M., Bernard, V., Newlove, T., Ukpeh, H., Chakrapani, A., Preece, M. A., Ball, S., Pitt, J., Vallance, H. D., Coulter-Mackie, M. & Nguyen, H. & 6 others, Zhang, L.-H., Bhavsar, A. P., Sinclair, G., Waheed, A., Wasserman, W. W. & Stockler-Ipsiroglu, S., 2014, In: American journal of human genetics. 94, 3, p. 453-461

    Research output: Contribution to journal › Article › Academic › peer-review

  • Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

    van Karnebeek, C. D. M., Hartmann, H., Jaggumantri, S., Bok, L. A., Cheng, B., Connolly, M., Coughlin, C. R., Das, A. M., Gospe, S. M., Jakobs, C., van der Lee, J. H., Mercimek-Mahmutoglu, S., Meyer, U., Struys, E., Sinclair, G., van Hove, J., Collet, J.-P., Plecko, B. R., Stockler, S. & Struijs, E. A. & 1 others, ten Hove, J., 2012, In: Molecular genetics and metabolism. 107, 3, p. 335-344

    Research output: Contribution to journal › Article › Academic › peer-review

  • The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource

    van Karnebeek, C. D. M., Shevell, M., Zschocke, J., Moeschler, J. B. & Stockler, S., 2014, In: Molecular genetics and metabolism. 111, 4, p. 428-438

    Research output: Contribution to journal › Review article › Academic › peer-review

View all 316 research outputs
  • 1 Oral presentation