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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium; Church GM, Scherer SW, Buxbaum JD, Walsh CA. Lim ET, et al. Among authors: buxbaum jd. Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17. Nat Neurosci. 2017. PMID: 28714951 Free PMC article.
Association between a GABRB3 polymorphism and autism.
Buxbaum JD, Silverman JM, Smith CJ, Greenberg DA, Kilifarski M, Reichert J, Cook EH Jr, Fang Y, Song CY, Vitale R. Buxbaum JD, et al. Mol Psychiatry. 2002;7(3):311-6. doi: 10.1038/sj.mp.4001011. Mol Psychiatry. 2002. PMID: 11920158
Sodium channels SCN1A, SCN2A and SCN3A in familial autism.
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH. Weiss LA, et al. Among authors: buxbaum jd. Mol Psychiatry. 2003 Feb;8(2):186-94. doi: 10.1038/sj.mp.4001241. Mol Psychiatry. 2003. PMID: 12610651
Disease susceptibility genes for autism.
Bespalova IN, Buxbaum JD. Bespalova IN, et al. Among authors: buxbaum jd. Ann Med. 2003;35(4):274-81. doi: 10.1080/07853890310005966. Ann Med. 2003. PMID: 12846270 Review.
Familial symptom domains in monozygotic siblings with autism.
Kolevzon A, Smith CJ, Schmeidler J, Buxbaum JD, Silverman JM. Kolevzon A, et al. Among authors: buxbaum jd. Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129B(1):76-81. doi: 10.1002/ajmg.b.30011. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15274045
Family-based association study of TPH1 and TPH2 polymorphisms in autism.
Ramoz N, Cai G, Reichert JG, Corwin TE, Kryzak LA, Smith CJ, Silverman JM, Hollander E, Buxbaum JD. Ramoz N, et al. Among authors: buxbaum jd. Am J Med Genet B Neuropsychiatr Genet. 2006 Dec 5;141B(8):861-7. doi: 10.1002/ajmg.b.30356. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16958027
476 results