Research output per year
Research output per year
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Dive into the research topics where Silvana van Koningsbruggen 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
- 14 Article
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Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools
Drost, M., Dekker, J., Ferraro, F., Kasteleijn, E., Verschuren, M., Kroon, E., Douben, H. C. W., Vogt, I., van Unen, L., Hoogeveen-Westerveld, M., Elfferich, P., Schot, R., Calandrini, C., Korpershoek, E., Sleutels, F., Brüggenwirth, H. B. R., Hollink, I. R., Meerstein-Kessel, L., Hoefsloot, L. H. & van Slegtenhorst, M. & 32 others, , 15 Jan 2026, In: Human Genetics and Genomics Advances. 7, 1, 100521.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile8 Downloads (Pure) -
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey
ten Dam, L., de Visser, M., Ginjaar, I. B., van Duyvenvoorde, H. A., van Koningsbruggen, S. & van der Kooi, A. J., 2021, In: Journal of neuromuscular diseases. 8, 2, p. 261-272 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile8 Downloads (Pure) -
Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS)
Verhoeven, D., Schonenberg-Meinema, D., Ebstein, F., Papendorf, J. J., Baars, P. A., van Leeuwen, E. M. M., Jansen, M. H., Lankester, A. C., van der Burg, M., Florquin, S., Maas, S. M., van Koningsbruggen, S., Krüger, E., van den Berg, J. M. & Kuijpers, T. W., 2021, (E-pub ahead of print) In: Journal of allergy and clinical immunology.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
Screening for inborn errors of metabolism in psychotic patients using Next Generation Sequencing
van de Burgt, N., van Koningsbruggen, S., Behrens, L., Leibold, N., Martinez-Martinez, P., Mannens, M. & van Amelsvoort, T., 1 Jun 2021, In: Journal of psychiatric research. 138, p. 125-129 5 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access -
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Lehalle, D., Vabres, P., Sorlin, A., Bierhals, T., Avila, M., Carmignac, V., Chevarin, M., Torti, E., Abe, Y., Bartolomaeus, T., Clayton-Smith, J., Cogné, B., Cusco, I., Duplomb, L., de Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal, A. & Geneviève, D. & 31 others, , 1 Dec 2020, In: Journal of medical genetics. 57, 12, p. 808-819 12 p., 106508.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile10 Downloads (Pure)