Research output per year
Research output per year
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Dive into the research topics where Rachel Schot is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment
Smits, D. J., Dekker, J., Schot, R., Tabarki, B., Alhashem, A., Demmers, J. A. A., Dekkers, D. H. W., Romito, A., van der Spek, P. J., van Ham, T. J., Bertoli-Avella, A. M., Mancini, G. M. S. & Verrijzer, P., Mar 2023, In: Human Genetics. 142, 3, p. 379-397 19 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)2 Downloads (Pure) -
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Dekker, J., Schot, R., Bongaerts, M., de Valk, W. G., van Veghel-Plandsoen, M. M., Monfils, K., Douben, H., Elfferich, P., Kasteleijn, E., van Unen, L. M. A., Geeven, G., Saris, J. J., van Ierland, Y., Verheijen, F. W., van der Sterre, M. L. T., Sadeghi Niaraki, F., Smits, D. J., Huidekoper, H. H., Williams, M., Wilke, M., & 9 others, 2 Feb 2023, In: American Journal of Human Genetics. 110, 2, p. 251-272 22 p.Research output: Contribution to journal › Article › Academic › peer-review
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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
Küry, S., Ebstein, F., Undiagnosed Diseases Network, Mollé, A., Besnard, T., Lee, M. K., Vignard, V., Hery, T., Nizon, M., Mancini, G. M. S., Giltay, J. C., Cogné, B., McWalter, K., Deb, W., Mor-Shaked, H., Li, H., Schnur, R. E., Wentzensen, I. M., Denommé-Pichon, A. S., Fourgeux, C., & 31 others, 3 Feb 2022, In: American Journal of Human Genetics. 109, 2, p. 361-372 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)51 Downloads (Pure) -
A novel family illustrating the mild phenotypic spectrum of TUBB2B variants
Dekker, J., Diderich, K. E. M., Schot, R., Husen, S. C., Dremmen, M. H. G., Go, A. T. J. I., Weerts, M. J. A., van Slegtenhorst, M. A. & Mancini, G. M. S., Nov 2021, In: European Journal of Paediatric Neurology. 35, p. 35-39 5 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)36 Downloads (Pure) -
Defining the phenotypical spectrum associated with variants in TUBB2A
Brock, S., Vanderhasselt, T., Vermaning, S., Keymolen, K., Régal, L., Romaniello, R., Wieczorek, D., Storm, TM., Schaeferhoff, K., Hehr, U., Kuechler, A., Krägeloh-Mann, I., Haack, TB., Kasteleijn, E., Schot, R., Verheijen - Mancini, G., Webster, R., Mohammad, S., Leventer, RJ., Mirzaa, G., & 5 others, Jan 2021, In: Journal of Medical Genetics. 58, 1, p. 33-40 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Citations (Scopus)5 Downloads (Pure)