Elise Ferreira

Research output

Research output per year 2021 2021 2023 2023

• 3 Article
• 2 Review article

Research output per year

Research output per year

Search results

• 2023

  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

  Open Access
  1 Citation (Scopus)

• 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

  Open Access
  3 Citations (Scopus)

• 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

  Open Access
  1 Citation (Scopus)
• 2021

  A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)

  Balfoort, B. M., Buijs, M. J. N., ten Asbroek, A. L. M. A., Bergen, A. A. B., Boon, C. J. F., Ferreira, E. A., Houtkooper, R. H., Wagenmakers, M. A. E. M., Wanders, R. J. A., Waterham, H. R., Timmer, C., van Karnebeek, C. D. & Brands, M. M., 1 Sept 2021, In: Molecular Genetics and Metabolism. 134, 1-2, p. 96-116 21 p.

  Research output: Contribution to journal › Review article › Academic › peer-review

  Open Access
  9 Citations (Scopus)

• Treatment of ARS deficiencies with specific amino acids

  Kok, G., Tseng, L., Schene, I. F., Dijsselhof, M. E., Salomons, G., Mendes, M. I., Smith, D. E. C., Wiedemann, A., Canton, M., Feillet, F., de Koning, T. J., Boothe, M., Dean, J., Kassel, R., Ferreira, E. A., van den Born, M., Nieuwenhuis, E. E. S., Rehmann, H., Terheggen-Lagro, S. W. J., van Karnebeek, C. D. M., & 1 othersFuchs, S. A., 1 Nov 2021, In: Genetics in medicine. 23, 11, p. 2202-2207 6 p.

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

  Open Access
  18 Citations (Scopus)