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Dive into the research topics where Daphne Smits is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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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. 34, 1, p. 108-118 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)20 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
Open AccessFile4 Citations (Scopus)5 Downloads (Pure) -
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome
Smits, D. J., Dekker, J., Douben, H., Schot, R., Magee, H., Bakhtiari, S., Koehler, K., Huebner, A., Schuelke, M., Darvish, H., Vosoogh, S., Tafakhori, A., Jameie, M., Taghiabadi, E., Wilson, Y., Shah, M., van Slegtenhorst, M. A., Medici-van den Herik, E. G., van Ham, T. J. & Kruer, M. C. & 1 others, , 10 Oct 2024, In: Human Genetics and Genomics Advances. 5, 4, 100327.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)87 Downloads (Pure) -
Cerebral cortex development: Clinical, genetic, and molecular insights
Smits, D., 3 Sept 2024, Rotterdam. 261 p.Research output: Types of Thesis › Doctoral Thesis › Internal
Open AccessFile201 Downloads (Pure) -
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes
Smits, D. J., Schot, R., Krusy, N., Wiegmann, K., Utermöhlen, O., Mulder, M. T., den Hoedt, S., Yoon, G., Deshwar, A. R., Kresge, C., Pletcher, B., van Mook, M., Ferreira, M. S., Poot, R. A., Slotman, J. A., Kremers, G. J., Ahmad, A., Albash, B., Bastaki, L. & Marafi, D. & 4 others, , 1 Aug 2023, In: Brain : a journal of neurology. 146, 8, p. 3528-3541 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile15 Citations (Scopus)57 Downloads (Pure)