Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome - PubMed (original) (raw)

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  Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
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  Ciptasari U, van Bokhoven H. Ciptasari U, et al. Hum Mol Genet. 2020 Sep 30;29(R1):R42-R50. doi: 10.1093/hmg/ddaa175. Hum Mol Genet. 2020. PMID: 32766754 Free PMC article. Review.
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  Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P. Tzschach A, et al. Eur J Hum Genet. 2015 Nov;23(11):1513-8. doi: 10.1038/ejhg.2015.5. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649377 Free PMC article.
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  Reed EG, Keller-Norrell PR. Reed EG, et al. Int J Mol Sci. 2023 Dec 12;24(24):17377. doi: 10.3390/ijms242417377. Int J Mol Sci. 2023. PMID: 38139206 Free PMC article. Review.
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  Ratbi I, Fejjal N, Micale L, Augello B, Fusco C, Lyahyai J, Merla G, Sefiani A. Ratbi I, et al. Mol Syndromol. 2013 Mar;4(3):152-6. doi: 10.1159/000346798. Epub 2013 Jan 30. Mol Syndromol. 2013. PMID: 23653588 Free PMC article.