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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Kummeling J, Stremmelaar DE, Raun N, Reijnders MRF, Willemsen MH, Ruiterkamp-Versteeg M, Schepens M, Man CCO, Gilissen C, Cho MT, McWalter K, Sinnema M, Wheless JW, Simon MEH, Genetti CA, Casey AM, Terhal PA, van der Smagt JJ, van Gassen KLI, Joset P, Bahr A, Steindl K, Rauch A, Keller E, Raas-Rothschild A, Koolen DA, Agrawal PB, Hoffman TL, Powell-Hamilton NN, Thiffault I, Engleman K, Zhou D, Bodamer O, Hoefele J, Riedhammer KM, Schwaibold EMC, Tasic V, Schubert D, Top D, Pfundt R, Higgs MR, Kramer JM, Kleefstra T. Kummeling J, et al. Among authors: kramer jm. Mol Psychiatry. 2021 Jun;26(6):2013-2024. doi: 10.1038/s41380-020-0725-5. Epub 2020 Apr 28. Mol Psychiatry. 2021. PMID: 32346159
Epigenetic regulation of learning and memory by Drosophila EHMT/G9a.
Kramer JM, Kochinke K, Oortveld MA, Marks H, Kramer D, de Jong EK, Asztalos Z, Westwood JT, Stunnenberg HG, Sokolowski MB, Keleman K, Zhou H, van Bokhoven H, Schenck A. Kramer JM, et al. Among authors: kramer d. PLoS Biol. 2011 Jan 4;9(1):e1000569. doi: 10.1371/journal.pbio.1000569. PLoS Biol. 2011. PMID: 21245904 Free PMC article.
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB. Koolen DA, et al. Among authors: kramer jm. Nat Genet. 2012 Apr 29;44(6):639-41. doi: 10.1038/ng.2262. Nat Genet. 2012. PMID: 22544363
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Kleefstra T, Kramer JM, Neveling K, Willemsen MH, Koemans TS, Vissers LE, Wissink-Lindhout W, Fenckova M, van den Akker WM, Kasri NN, Nillesen WM, Prescott T, Clark RD, Devriendt K, van Reeuwijk J, de Brouwer AP, Gilissen C, Zhou H, Brunner HG, Veltman JA, Schenck A, van Bokhoven H. Kleefstra T, et al. Among authors: kramer jm. Am J Hum Genet. 2012 Jul 13;91(1):73-82. doi: 10.1016/j.ajhg.2012.05.003. Epub 2012 Jun 21. Am J Hum Genet. 2012. PMID: 22726846 Free PMC article.
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L. Iqbal Z, et al. Among authors: kramer jm. Hum Mol Genet. 2013 May 15;22(10):1960-70. doi: 10.1093/hmg/ddt043. Epub 2013 Feb 5. Hum Mol Genet. 2013. PMID: 23390136 Free article.
The genetics of cognitive epigenetics.
Kleefstra T, Schenck A, Kramer JM, van Bokhoven H. Kleefstra T, et al. Among authors: kramer jm. Neuropharmacology. 2014 May;80:83-94. doi: 10.1016/j.neuropharm.2013.12.025. Epub 2014 Jan 13. Neuropharmacology. 2014. PMID: 24434855 Review.
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
Farhan SMK, Nixon KCJ, Everest M, Edwards TN, Long S, Segal D, Knip MJ, Arts HH, Chakrabarti R, Wang J, Robinson JF, Lee D, Mirsattari SM, Rupar CA, Siu VM; FORGE Canada Consortium; Poulter MO, Hegele RA, Kramer JM. Farhan SMK, et al. Among authors: kramer jm. Hum Mol Genet. 2017 Nov 1;26(21):4278-4289. doi: 10.1093/hmg/ddx316. Hum Mol Genet. 2017. PMID: 28973161 Free PMC article.
314 results