Clara van Karnebeek

Prof. MD PhD

Affiliatie UvA Amsterdam Gastroenterology Endocrinology Metabolism Amsterdam Reproduction & Development (AR&D) Pediatric Metabolic Diseases Full Professor, Pediatrics

Specialization

Focus of research

Key publications
Latest publications

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
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
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
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Clara van Karnebeek

Specialization

Focus of research

Exome Sequencing and the Management of Neurometabolic Disorders

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

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

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort

What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study

Research Institutes

Researchers

About Amsterdam UMC Research

News

Research Roadmap

Core facilities

Research Support

Doctoral school

Clara van Karnebeek

Specialization

Focus of research

Exome Sequencing and the Management of Neurometabolic Disorders

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

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

A Novel Gain-of-Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort

What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study

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