Research output per year
Research output per year
Fingerprint
Dive into the research topics where Christophe Debuy is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Research output
- 3 Article
-
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET
Shi, Y., Silva, A., Debuy, C., Ghosh, S., McConkey, H., Schot, R., Deng, R., Nikoncuk, A., van Slegtenhorst, M., Hoefsloot, L. H., van Ham, T. J., Simpson, B. N., Miller, D., Pillai, N. R., Holder-Espinasse, M., Almoguera, B., Blanco-Kelly, F., Clowes, V., Yoon, G. & Monteleone, B. & 39 others, , Sept 2026, In: Genetics in Medicine. 28, 9, 102637.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure) -
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, , Jan 2026, In: European journal of human genetics : EJHG. 34, 1, p. 108-118 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile4 Citations (Scopus)40 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, , Oct 2025, In: European Journal of Human Genetics. 33, 10, p. 1281-1289 9 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Web of Science)13 Downloads (Pure)