Fingerprint
Dive into the research topics where Dmitrijs Rots 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
- 10 Article
-
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
Ferraro, F., Kühn, N., Rots, D., van der Linde, H. C., Mohseni, B., van Unen, L., Drost, M., Nellist, M., Koekkoek, M., Schot, R., de Gier, H. W., Pleumeekers, M., Barakat, T. S., Kleefstra, T., Weerts, M., van Dooren, M. F. & van Ham, T. J., 15 Jan 2026, In: Human Genetics and Genomics Advances. 7, 1, 100523.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Downloads (Pure) -
Novel GNB4 Gene Variant and the Spectrum of GNB4 Variants in Patients With Charcot-Marie-Tooth Disease
Pretkalnina, D., Jurcenko, M., Rozevska, M., Gailite, L., Kauke, G., Zarina, A., Kenina, V. & Rots, D., 27 Oct 2025, In: Neurology. Genetics. 11, 6, e200310.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 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, , 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)17 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 (Web of Science)5 Downloads (Pure) -
DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review
Kennis, M. G. P., Rots, D., Bouman, A., Ockeloen, C. W., Boelen, C., Marcelis, C. L. M., de Vries, B. B. A., Elting, M. W., Waisfisz, Q., Suri, M., Font-Montgomery, E., Peck, D. S., Donnelly, D. E., Rogers, R. C., Richardson, R., Caumes, R., Chaumette, B., Louveau, C., Sallevelt, S. C. E. H. & Maas, S. M. & 8 others, , 31 Mar 2025, (E-pub ahead of print) In: European Journal of Human Genetics. 33, 8, p. 980-988 9 p., 7702.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Citations (Scopus)32 Downloads (Pure)