Elise Ferreira

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

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 othersRodenburg, R. J. & Coene, K. L. M., Jan 2023, In: Genetics in medicine. 25, 1, p. 125-134 10 p.

Research output: Contribution to journal › Article › Academic › peer-review

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