Research output per year
Research output per year
Personal profile
Research interests
Emma Center for Personalized Medicine
Therapy for rare genetic disorders
Single-case experimental designs (SCEDs), specifically N-of-1 design
Outcome measures for rare and heterogeneous patient populations
Specialisation
Rare genetic and congenital neurodevelopmental disorders
Education/Academic qualification
PhD, The power of 1: Interventions and outcome measures for rare genetic neurodevelopmental disorders, Amsterdam UMC
Award Date: 26 Jan 2024
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Collaborations and top research areas from the last five years
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Research output
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Drug repurposing of glycerol phenylbutyrate for children with SLC6A1-related neurodevelopmental disorder: A prospective open-label case series
van Walree, E. S., Dekker, D. Z., Sprengers, J. J., Boussaad, I., van Muilekom, M. M., Smits, M. J., Alders, M. A., van Haelst, M. M., Altinbas, A., Gunning, W. B., Haaxma, C. A., van der Vegt, J. P. M., Verhoeven, J. S., Grinspan, Z. M., Schieving, J. H., Müller, A. R. & van Karnebeek, C. D., 1 Sept 2026, In: Molecular genetics and metabolism. 149, 1-2, p. 110256 110256.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs
Müller, A. R., den Hollander, B., van Eeghen, A. M., van de Ven, P. M., Cornel, M., van Haelst, M., Sprengers, J. J., Bruining, H., Brands, M. M. & van Karnebeek, C. D., 1 Dec 2025, In: Genetics in medicine. 27, 12, 101592.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile56 Downloads (Pure) -
Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials
den Hollander, B., Rothuizen-Lindenschot, M., Le, H. L., Ramautar, J. R., Müller, A. R., Geertjens, L., Vaz, F. M., van Eeghen, A. M., Cornel, M. C., Jacobs, B. A. W., Bruining, H., van de Ven, P. M., Brands, M. M. & van Karnebeek, C. D., Dec 2025, In: Molecular genetics and metabolism. 146, 4, p. 109268 109268.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Downloads (Pure) -
SIMPATHIC: Accelerating drug repurposing for rare diseases by exploiting SIMilarities in clinical and molecular PATHology
van Karnebeek, C. D. M., Müller, A. R., Benkemoun, L., Boussaad, I., Cornel, M. C., IntHout, J., de Kort, M., de Oliveira Martins, S., Prigione, A., Rigter, T., Roes, K. C. B., Sanchez, A., Schipper, R., Wilkinson, M. D. & ’t Hoen, P. A. C., 1 Apr 2025, In: Molecular genetics and metabolism. 144, 4, 109073.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile34 Downloads (Pure) -
The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!
den Hollander, B., Hoytema van Konijnenburg, E. M. M., Hewitson, B., van der Meijden, J. C., Balfoort, B. M., Winter, B., Müller, A. R., Wasserman, W. W., Ferreira, C. R. & van Karnebeek, C. D., 1 Jan 2025, In: Journal of inherited metabolic disease. 48, 1, e12835.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile54 Downloads (Pure)