Research output per year
Research output per year
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Dive into the research topics where Frank Sleutels 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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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 AccessFile -
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
3 Citations (Scopus) -
Mutations in the small nuclear RNA gene <i>RNU2</i>-<i>2</i> cause a severe neurodevelopmental disorder with prominent epilepsy
Greene, D., De Wispelaere, K., Lees, J., Codina-Sola, M., Jensson, B. O., Hales, E., Katrinecz, A., Molina, E. N., Pascoal, S., Pfundt, R., Schot, R., Porras, M. S., Sleutels, F., Valenzuela, I., Wijngaard, R., Carrera, I. A., Atton, G., Casas-Alba, D., Donnelly, D. & Rodriguez, A. D. & 32 others, , 10 Apr 2025, In: Nature Genetics. 57, 6, p. 1367-1373 7 p., 8718.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Citations (Scopus)83 Downloads (Pure) -
BRCC3-Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing
Venema, M., Albuainain, F., Schot, R., Roozenbeek, B., Sleutels, F., van Ham, T. & Barakat, T. S., Mar 2025, In: Clinical Genetics. 107, 3, p. 341-347 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile36 Downloads (Pure) -
The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies
Diderich, K. E. M., Bruggenwirth, H. T., Joosten, M., Thurik, F., Mijalkovic, J., Polak, M., Kromosoeto, J., Somers-Bolman, G. M., van den Born, M., Drost, M., Galjaard, R. J. H., Galjaard, S., Hoefsloot, L. H., Knapen, M. F. C. M., van Minkelen, R., van der Schoot, V., van Slegtenhorst, M. A., Sleutels, F., Stuurman, K. E. & Weerts, M. J. A. & 3 others, , Nov 2024, In: Prenatal Diagnosis. 44, 12, p. 1444-1450 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Scopus)63 Downloads (Pure)