Research output per year
Research output per year
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Dive into the research topics where Laura Donker Kaat 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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Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history
De Houwer, J. F. H., Dopper, E. G. P., Rajicic, A., van Buuren, R., Arcaro, M., Galimberti, D., Breedveld, G. J., Wilke, M., van Minkelen, R., Jiskoot, L. C., van Swieten, J. C., Donker Kaat, L. & Seelaar, H., 16 Dec 2024, In: Journal of Neurology. 272, 1, 64.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure) -
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
Vos, N., Haghshenas, S., van der Laan, L., Russel, P. K. M., Rooney, K., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Maas, S. M., Vissers, L. E. L. M., de Vries, B. B. A., Pfundt, R., Elting, M. W., van Hagen, J. M., Verbeek, N. E., Jongmans, M. C. J., Lakeman, P., Rumping, L. & Bosch, D. G. M. & 40 others, , Jun 2024, In: Human Genetics. 143, 6, p. 761-773 13 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile3 Citations (Scopus)5 Downloads (Pure) -
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Kerkhof, J., Rastin, C., Levy, M. A., Relator, R., McConkey, H., Demain, L., Dominguez-Garrido, E., Kaat, L. D., Houge, S. D., DuPont, B. R., Fee, T., Fletcher, R. S., Gokhale, D., Haukanes, B. I., Henneman, P., Hilton, S., Hilton, B. A., Jenkinson, S., Lee, J. A. & Louie, R. J. & 15 others, , May 2024, In: Genetics in Medicine. 26, 5, 101075.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile26 Citations (Scopus) -
Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B
Fatalska, A., Hodgson, G., Freund, S. M. V., Maslen, S. L., Morgan, T., Thorkelsson, S. R., van Slegtenhorst, M., Lorenz, S., Andreeva, A., Kaat, L. D. & Bertolotti, A., 1 Feb 2024, In: Molecular Cell. 84, 3, p. 506-521.e11Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)26 Downloads (Pure) -
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
Almousa, H., Lewis, S. A., Bakhtiari, S., Nordlie, S. H., Pagnozzi, A., Magee, H., Efthymiou, S., Heim, J. A., Cornejo, P., Zaki, M. S., Anwar, N., Maqbool, S., Rahman, F., Neilson, D. E., Vemuri, A., Jin, S. C., Yang, X. R., Heidari, A., Van Gassen, K. & Trimouille, A. & 40 others, , Jan 2024, In: Brain. 147, 1, p. 311-324 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile5 Citations (Scopus)1 Downloads (Pure)