Specialization
Clinical Geneticist
Amsterdam Reproduction & Development
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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators & ABCTB Investigators, 1 Dec 2021, In: Nature communications. 12, 1, 1078.Research output: Contribution to journal › Article* › Academic › peer-review
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Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells
Glykofridis, I. E., Knol, J. C., Balk, J. A., Westland, D., Pham, T. V., Piersma, S. R., Lougheed, S. M., Derakhshan, S., Veen, P., Rooimans, M. A., van Mil, S. E., Böttger, F., Poddighe, P. J., van de Beek, I., Drost, J., Zwartkruis, F. J. T., de Menezes, R. X., Meijers-Heijboer, H. E. J., Houweling, A. C. & Jimenez, C. R. & 1 others, , 1 Jan 2021, In: eLife. 10, p. 1-71 71 p., e61630.Research output: Contribution to journal › Article* › Academic › peer-review
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Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
van Walree, E. S., Dombrowsky, G., Jansen, I. E., Mirkov, M. U., Zwart, R., Ilgun, A., Guo, D., Clur, S.-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu’Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E. & Christoffels, V. M. & 6 others, , Jan 2021, In: Genetics in medicine. 23, 1, p. 103-110 8 p.Research output: Contribution to journal › Article* › Academic › peer-review
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