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Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
Undiagnosed Diseases Network, 6 Apr 2023, In: American journal of human genetics. 110, 4, p. 663-680 18 p.Research output: Contribution to journal › Article › Academic › peer-review
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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
Ferreira, E. A., Veenvliet, A. R. J., Engelke, U. F. H., Kluijtmans, L. A. J., Huigen, M. C. D. G., Hoegen, B., de Boer, L., de Vries, M. C., van Bon, B. W., Leenders, E., Cornelissen, E. A. M., Haaxma, C. A., Schieving, J. H., Rubio-Gozalbo, M. E., Körver-Keularts, I. M. L. W., Marten, L. M., Diegmann, S., Mourmans, J., Rennings, A. J. M., van Karnebeek, C. D. M., & 2 others, Jan 2023, In: Genetics in medicine. 25, 1, p. 125-134 10 p.Research output: Contribution to journal › Article › Academic › peer-review
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Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
Ferreira, E. A., Buijs, M. J. N., Wijngaard, R., Daams, J. G., Datema, M. R., Engelen, M., van Karnebeek, C. D. M., Oud, M. M., Vaz, F. M., Wamelink, M. M. C., van der Crabben, S. N. & Langeveld, M., 2023, In: Frontiers in Neurology. 14, p. 1206106 1206106.Research output: Contribution to journal › Review article › Academic › peer-review
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