Research output per year
Research output per year
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Dive into the research topics where Tjitske Kleefstra is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Research output
- 18 Article
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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Mirzaa, G. M., Yan, K., Relator, R., Levesque, M., Jayasinghe, P., Timpano, S., Yalcin, B., Collins, S., Ziegler, A., Pao, E., Oyama, N., Brischoux-Boucher, E., Piard, J., Monaghan, K. G., Guillen Sacoto, M. J., Dobyns, W. B., Park, K. L., Fernández-Mayoralas, D. M., Fernández-Jaén, A. & Jayakar, P. & 46 others, , 10 Nov 2025, In: Nature Communications. 16, 1, 9875.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile -
Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making
Smits, D. J., Ferraro, F., Drost, M., van der Linde, H. C., de Graaf, B. M., van Bever, Y., Brooks, A. S., Bardina, L., Brüggenwirth, H. T., Debuy, C., Donker Kaat, L., van Dijk, B. T., van Engelen, N., Geeven, G., van de Graaf, R., van Haaften-Visser, D. Y., van Hasselt, P. M., Heijsman, D., Hendriks, Y. M. C. & Hitti-Malin, R. J. & 25 others, , 20 Oct 2025, In: European journal of human genetics : EJHG.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Downloads (Pure) -
Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study
van Till, S. A. L., Bouman, A., Kleefstra, T. & Bunnik, E. M., Oct 2025, In: European Journal of Medical Genetics. 77, 105037.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile8 Downloads (Pure) -
Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders
Smits, D. J., Debuy, C., Brooks, A. S., Schot, R., Ferraro, F., Rots, D., Bouman, A., Verhoeven, V. J. M., Kaat, L. D., Kant, S. G., van Bever, Y., Demirdas, S., Zeidler, S., van Dooren, M. F., Donze, S. H., Hoefsloot, L. H., van Slegtenhorst, M. A., Wilke, M., Sleutels, F. & Drost, M. & 14 others, , 29 Jul 2025, (E-pub ahead of print) In: European Journal of Human Genetics. 33, 10, p. 1281-1289 9 p.Research output: Contribution to journal › Article › Academic › peer-review
4 Citations (Web of Science) -
“It seems enormously valuable to me.”: Perspectives of Dutch (potential) carriers of genetic FTD on onset-predictive biomarker testing
Graafland, C. H., Seelaar, H., Panman, J. L., Jiskoot, L. C., Kleefstra, T., Poos, J. M., Richard, E., Schermer, M. H. N., van Swieten, J. C., Donker Kaat, L. & Bunnik, E. M., 6 May 2025, (E-pub ahead of print) In: Alzheimer's Research and Therapy. 17, 1, 99.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)15 Downloads (Pure)