Research output per year
Research output per year
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Dive into the research topics where Anneke Kievit is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Research output
- 41 Article
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Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy
de Muijnck, C., Haer-Wigman, L., van Everdingen, J. A. M., Lushchyk, T., Heutinck, P. A. T., van Dooren, M. F., Kievit, A. J. A., Verhoeven, V. J. M., Simon, M. E. H., Wasmann, R. A., Notting, I. C., De Baere, E., Walraedt, S., De Zaeytijd, J., Van den Broeck, F., Leroy, B. P., Boon, C. J. F. & van Genderen, M. M., Dec 2024, In: Scientific Reports. 14, 1, 1 p., 22956.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)6 Downloads (Pure) -
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Bassani, S., Chrast, J., Ambrosini, G., Voisin, N., Schütz, F., Brusco, A., Sirchia, F., Turban, L., Schubert, S., Abou Jamra, R., Schlump, J. U., DeMille, D., Bayrak-Toydemir, P., Nelson, G. R., Wong, K. N., Duncan, L., Mosera, M., Gilissen, C., Vissers, L. E. L. M. & Pfundt, R. & 34 others, , 30 May 2024, In: Genome Medicine. 16, 1, 72.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure) -
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project
Vollstedt, E. J., Madoev, H., Aasly, A., Ahmad-Annuar, A., Al-Mubarak, B., Alcalay, R. N., Alvarez, V., Amorin, I., Annesi, G., Arkadir, D., Bardien, S., Barker, R. A., Barkhuizen, M., Basak, A. N., Bonifati, V., Boon, A., Brighina, L., Brockmann, K., Carmine Belin, A. & Carr, J. & 63 others, , 3 Oct 2023, In: PLoS ONE. 18, 10 October, e0292180.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)13 Downloads (Pure) -
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal
West, H. D., Nellist, M., Brouwer, R. W. W., Van Den Hout-Van Vroonhoven, M. C. G. N., De Almeida, L. G. D., Hendriks, F., Elfferich, P., Raja, M., Giles, P., Alfano, R. M., Peron, A., Sznajer, Y., De Waele, L., Jansen, A., Koopmans, M., Kievit, A., Farach, L. S., Northrup, H., Sampson, J. R. & Thomas, L. E. & 1 others, , 13 Jul 2023, In: Human Mutation. 2023, 4899372.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)7 Downloads (Pure) -
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability
Fevga, C., Tesson, C., International Parkinsonism Genetics Network, Mediterranean Parkinson disease Genetics Study Group, Carreras Mascaro, A., Courtin, T., Van Coller, R., Sakka, S., Ferraro, F., Farhat, N., Bardien, S., Damak, M., Carr, J., Boumeester, V., Hundscheid, J., Grillenzoni, N., Kuipers, D. J. S., Quadri, M., Bonifati, V. & Mandemakers, W. & 2 others, , Apr 2023, In: Brain. 146, 4, p. 1496-1510 15 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile13 Citations (Scopus)15 Downloads (Pure)