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Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity
Ghaleb, Y. E., Fernández-Quintero, M. L., Campiglio, M., Tuluc, P., Höing, A.-S., Kortüm, F., Motazacker, M. M., Jansen, I. E., Elting, M. W., Plomp, A. S., Fischer, A.-L. M., Siu, V. M., Kutsche, K. & Flucher, B. E., 18 Aug 2025, In: PLoS genetics. 21, 8 August, e1011828.Research output: Contribution to journal › Article › Academic › peer-review
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Connecting dementia risk loci to the CSF proteome identifies pathophysiological leads for dementia
The Alzheimer's Disease Neuroimaging Initiative, Alice Chen-Plotkin, Reus, L. M., Jansen, I. E., Tijms, B. M., Visser, P. J., Tesi, N., van der Lee, S. J., Vermunt, L., Peeters, C. F. W., De Groot, L. A., Hok-A-Hin, Y. S., Chen-Plotkin, A., Irwin, D. J., Hu, W. T., Meeter, L. H., van Swieten, J. C., Holstege, H., Hulsman, M., Lemstra, A. W. & Pijnenburg, Y. A. L. & 2 others, , 1 Oct 2024, In: Brain. 147, 10, p. 3522-3533 12 p.Research output: Contribution to journal › Article › Academic › peer-review
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Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia
Wightman, D. P., Savage, J. E., de Leeuw, C. A., Jansen, I. E. & Posthuma, D., 1 Dec 2023, In: Scientific reports. 13, 1, p. 1-10 10 p., 2179.Research output: Contribution to journal › Article › Academic › peer-review
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