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Page 1
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, de Graaff-Herder L, Eichler EE, Gerkes EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, Kleefstra T, Maas SM, de Man SA, McConkey H, Patterson WG, Dobson AT, Prijoles EJ, Sadikovic B, Relator R, Stevenson RE, Stumpel CTRM, Heijligers M, Stuurman KE, Löhner K, Zeidler S, Lee JA, Lindy A, Zou F, Tedder ML, Vissers LELM, de Vries BBA. Dingemans AJM, et al. Among authors: zeidler s. Transl Psychiatry. 2022 Oct 1;12(1):421. doi: 10.1038/s41398-022-02189-1. Transl Psychiatry. 2022. PMID: 36182950 Free PMC article.
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.
Deb W, Rosenfelt C, Vignard V, Papendorf JJ, Möller S, Wendlandt M, Studencka-Turski M, Cogné B, Besnard T, Ruffier L, Toutain B, Poirier L, Cuinat S, Kritzer A, Crunk A, diMonda J, Vengoechea J, Mercier S, Kleinendorst L, van Haelst MM, Zuurbier L, Sulem T, Katrínardóttir H, Friðriksdóttir R, Sulem P, Stefansson K, Jonsdottir B, Zeidler S, Sinnema M, Stegmann APA, Naveh N, Skraban CM, Gray C, Murrell JR, Isikay S, Pehlivan D, Calame DG, Posey JE, Nizon M, McWalter K, Lupski JR, Isidor B, Bolduc FV, Bézieau S, Krüger E, Küry S, Ebstein F. Deb W, et al. Among authors: zeidler s. Am J Hum Genet. 2024 Jul 11;111(7):1352-1369. doi: 10.1016/j.ajhg.2024.05.016. Epub 2024 Jun 11. Am J Hum Genet. 2024. PMID: 38866022 Free PMC article.
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.
Verkerk AJMH, Zeidler S, Breedveld G, Overbeek L, Huigh D, Koster L, van der Linde H, de Esch C, Severijnen LA, de Vries BBA, Swagemakers SMA, Willemsen R, Hoogeboom AJM, van der Spek PJ, Oostra BA. Verkerk AJMH, et al. Among authors: zeidler s. Eur J Hum Genet. 2018 Apr;26(4):552-560. doi: 10.1038/s41431-017-0051-9. Epub 2018 Jan 26. Eur J Hum Genet. 2018. PMID: 29374277 Free PMC article.
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N, Jansen FE, Ockeloen CW, van Kempen MJA, Zeidler S, Willemsen MH, Scarano E, Monticone S, Zonneveld-Huijssoon E, Low KJ, Bayat A, Sisodiya SM, Samanta D, Lesca G, de Jong D, Giltay JC, Verbeek NE, Kleefstra T, Brilstra EH, Vlaskamp DRM. Buijsse N, et al. Among authors: zeidler s. Epilepsia Open. 2023 Dec;8(4):1300-1313. doi: 10.1002/epi4.12799. Epub 2023 Aug 18. Epilepsia Open. 2023. PMID: 37501353 Free PMC article.
Translational endpoints in fragile X syndrome.
de Esch CE, Zeidler S, Willemsen R. de Esch CE, et al. Among authors: zeidler s. Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:256-69. doi: 10.1016/j.neubiorev.2013.10.012. Epub 2013 Oct 30. Neurosci Biobehav Rev. 2014. PMID: 24184744 Review.
The quest for targeted therapy in fragile X syndrome.
Zeidler S, Hukema RK, Willemsen R. Zeidler S, et al. Expert Opin Ther Targets. 2015;19(10):1277-81. doi: 10.1517/14728222.2015.1079176. Epub 2015 Aug 14. Expert Opin Ther Targets. 2015. PMID: 26294013
51 results