Research output per year
Research output per year
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Dive into the research topics where Shimriet Zeidler is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies
Absalom, N. L., Liao, V. W. Y., Johannesen, K. M. H., Gardella, E., Jacobs, J., Lesca, G., Gokce-Samar, Z., Arzimanoglou, A., Zeidler, S., Striano, P., Meyer, P., Benkel-Herrenbrueck, I., Mero, I. L., Rummel, J., Chebib, M., Møller, R. S. & Ahring, P. K., 5 Apr 2022, In: Nature Communications. 13, 1, 1822.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile12 Citations (Scopus)6 Downloads (Pure) -
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
Dingemans, A. J. M., Truijen, K. M. G., van de Ven, S., Bernier, R., Bongers, E. M. H. F., Bouman, A., de Graaff – Herder, L., Eichler, E. E., Gerkes, E. H., De Geus, C. M., van Hagen, J. M., Jansen, P. R., Kerkhof, J., Kievit, A. J. A., Kleefstra, T., Maas, S. M., de Man, S. A., McConkey, H., Patterson, W. G., Dobson, A. T., & 15 others, 1 Oct 2022, In: Translational Psychiatry. 12, 1, 421.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Citations (Scopus)5 Downloads (Pure) -
A missense variant in the nuclear export signal of the FMR1 gene causes intellectual disability
Zeidler, S., Severijnen, L., Boer, H., van der Toorn, E., Ruivenkamp, CAL., Bijlsma, EK. & Willemsen, R., 5 Feb 2021, In: Gene. 768, 145298.Research output: Contribution to journal › Article › Academic › peer-review
4 Citations (Scopus) -
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability
Verkerk, A., Zeidler, S., Breedveld, G., Overbeek, L., Huigh, D., Koster, L., Zondervan - van der Linde, H., Esch, C., Severijnen, LA., de Vries, BBA., Swagemakers, S., Willemsen, R., Hoogeboom, J., van der Spek, P. & Oostra, B., 2018, In: European Journal of Human Genetics. 26, 4, p. 552-560 9 p.Research output: Contribution to journal › Article › Academic › peer-review
10 Citations (Scopus) -
Fragiele-X-syndroom: Nieuwe therapeutische strategieën
Translated title of the contribution :Fragile X syndrome: New therapeutic strategies Research output: Contribution to journal › Article › Academic › peer-review