Research output per year
Research output per year
Personal profile
Research interests
My PhD projects focuses on genetic modifiers for Charcot-Marie-Tooth disease.
Specialisation
Neurogenetics - Clinical Genetics
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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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
Open Access -
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
Open Access -
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
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PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
van Paassen, B. W., van der Kooi, A. J., van Spaendonck-Zwarts, K. Y., Verhamme, C., Baas, F. & de Visser, M., 2014, In: Orphanet Journal of Rare Diseases. 9, 1, p. 38Research output: Contribution to Journal › Review article › Academic › peer-review
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Severe fatigue and reduced quality of life in children with hereditary motor and sensory neuropathy 1A
Jagersma, E., Jeukens-Visser, M., van Paassen, B. W., Meester-Delver, A. & Nollet, F., 2013, In: Journal of Child Neurology. 28, 4, p. 429-434Research output: Contribution to Journal › Article › Academic › peer-review