Specialization
Neurogenetics - Clinical Genetics
Focus of research
My PhD projects focuses on genetic modifiers for Charcot-Marie-Tooth disease.
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Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
Genomics England Research Consortium, Nov 2021, In: Genetics in Medicine. 23, 11, p. 2122-2137 16 p.Research output: Contribution to Journal › Article › Academic › peer-review
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Families with BAP1-tumor predisposition syndrome in The Netherlands: Path to identification and a proposal for genetic screening guidelines
Chau, C., van Doorn, R., van Poppelen, N. M., van der Stoep, N., Mensenkamp, A. R., Sijmons, R. H., van Paassen, B. W., van den Ouweland, A. M. W., Naus, N. C., van der Hout, A. H., Potjer, T. P., Bleeker, F. E., Wevers, M. R., van Hest, L. P., Jongmans, M. C. J., Marinkovic, M., Bleeker, J. C., Jager, M. J., Luyten, G. P. M. & Nielsen, M., 1 Aug 2019, In: Cancers. 11, 8, 1114.Research output: Contribution to Journal › Article › Academic › peer-review
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Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations
van Paassen, B. W., Bronk, M., Verhamme, C., van Ruissen, F., Baas, F., van Spaendonck-Zwarts, K. Y. & de Visser, M., 2017, In: Journal of the peripheral nervous system. 22, 4, p. 464-467Research output: Contribution to Journal › Article › Academic › peer-review
- All publications