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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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., 17 Nov 2024, (E-pub ahead of print) In: Clinical Genetics. 107, 3, p. 341-347 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure) -
The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants
Furia, F., Levy, A. M., Theunis, M., Bamshad, M. J., Bartos, M. N., Bijlsma, E. K., Brancati, F., Cejudo, L., Chong, J. X., De Luca, C., Dean, S. J., Egense, A., Goel, H., Guenzel, A. J., Hüffmeier, U., Legius, E., Mancini, G. M. S., Marcos-Alcalde, I., Niclass, T. & Planes, M. & 16 others, , Nov 2024, In: Clinical Genetics. 106, 5, p. 574-584 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)6 Downloads (Pure) -
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome
Smits, D. J., Dekker, J., Douben, H., Schot, R., Magee, H., Bakhtiari, S., Koehler, K., Huebner, A., Schuelke, M., Darvish, H., Vosoogh, S., Tafakhori, A., Jameie, M., Taghiabadi, E., Wilson, Y., Shah, M., van Slegtenhorst, M. A., Medici-van den Herik, E. G., van Ham, T. J. & Kruer, M. C. & 1 others, , 10 Oct 2024, In: Human Genetics and Genomics Advances. 5, 4, 100327.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile1 Citation (Scopus)30 Downloads (Pure) -
Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder
Schot, R., Ferraro, F., Geeven, G., Diderich, K. E. M. & Barakat, T. S., 11 Jun 2024, (E-pub ahead of print) In: Clinical Genetics. 106, 4, p. 512-517 6 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile7 Citations (Scopus)49 Downloads (Pure) -
A novel functional genomics atlas coupled with convolutional neural networks facilitates clinical interpretation of disease relevant variants in non-coding regulatory elements
Deng, R., Perenthaler, E., Nikoncuk, A., Yousefi, S., Lanko, K., Schot, R., Maresca, M., Parker, M. J., van Ijcken, W. F. J., Park, J., Sturm, M., Haack, T. B., Roshchupkin, G. V., Mulugeta, E. & Barakat, T. S., 16 Apr 2024, (Submitted) Cold Spring Harbor Laboratory Press.Research output: Other contribution › Academic