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1. Bell S, Maussion G, Jefri M, Peng H, Theroux JF, Silveira H, Soubannier V, Wu H, Hu P, Galat E, Torres-Platas SG, Boudreau-Pinsonneault C, O'Leary LA, Galat V,Turecki G, Durcan TM, Fon EA, Mechawar N, Ernst C. Disruption of GRIN2B ImpairsDifferentiation in Human Neurons. Stem Cell Reports. 2018 Jul 10;11(1):183-196.doi: 10.1016/j.stemcr.2018.05.018.
2. Fedele L, Newcombe J, Topf M, Gibb A, Harvey RJ, Smart TG. Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ionchannel properties. Nat Commun. 2018 Mar 6;9(1):957. doi:10.1038/s41467-018-02927-4.
3. Freunscht I, Popp B, Blank R, Endele S, Moog U, Petri H, Prott EC, Reis A,Rübo J, Zabel B, Zenker M, Hebebrand J, Wieczorek D. Behavioral phenotype in fiveindividuals with de novo mutations within the GRIN2B gene. Behav Brain Funct.2013 May 29;9:20. doi: 10.1186/1744-9081-9-20.
4. Hu C, Chen W, Myers SJ, Yuan H, Traynelis SF. Human GRIN2B variants inneurodevelopmental disorders. J Pharmacol Sci. 2016 Oct;132(2):115-121. doi:10.1016/j.jphs.2016.10.002.Sci. 2017 Apr;133(4):280.
5. Platzer K, Lemke JR. GRIN2B-Related Neurodevelopmental Disorder. 2018 May 31. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK501979/
6. Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO,Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, MignotC, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, MuirAM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der SmagtJJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I,Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, LawsonJA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, LinnankiviT, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA,Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, FranzDN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. GRIN2B encephalopathy: novel findings on phenotype, variant clustering,functional consequences and treatment aspects. J Med Genet. 2017Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509.
7. Swanger SA, Chen W, Wells G, Burger PB, Tankovic A, Bhattacharya S, Strong KL,Hu C, Kusumoto H, Zhang J, Adams DR, Millichap JJ, Petrovski S, Traynelis SF,Yuan H. Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. Am J Hum Genet. 2016 Dec1;99(6):1261-1280. doi: 10.1016/j.ajhg.2016.10.002.