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Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J. Brownstein CA, et al. Among authors: kleiman rj. Am J Med Genet A. 2016 May;170A(5):1165-73. doi: 10.1002/ajmg.a.37595. Epub 2016 Feb 16. Am J Med Genet A. 2016. PMID: 26887912 Free PMC article.
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, Agrawal PB, Gonzalez-Heydrich J. Smedemark-Margulies N, et al. Among authors: kleiman rj. Cold Spring Harb Mol Case Stud. 2016 Sep;2(5):a001008. doi: 10.1101/mcs.a001008. Cold Spring Harb Mol Case Stud. 2016. PMID: 27626066 Free PMC article.
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.
Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J. Torres A, et al. Among authors: kleiman rj. Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 29922587 Free PMC article.
Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy.
Chahrour M, O'Roak BJ, Santini E, Samaco RC, Kleiman RJ, Manzini MC. Chahrour M, et al. Among authors: kleiman rj. J Neurosci. 2016 Nov 9;36(45):11402-11410. doi: 10.1523/JNEUROSCI.2335-16.2016. J Neurosci. 2016. PMID: 27911742 Free PMC article. Review.
Translating genetic and preclinical findings into autism therapies.
Chahrour M, Kleiman RJ, Manzini MC. Chahrour M, et al. Among authors: kleiman rj. Dialogues Clin Neurosci. 2017 Dec;19(4):335-343. doi: 10.31887/DCNS.2017.19.4/cmanzini. Dialogues Clin Neurosci. 2017. PMID: 29398929 Free PMC article. Review.
Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A.
Alexander MS, Gasperini MJ, Tsai PT, Gibbs DE, Spinazzola JM, Marshall JL, Feyder MJ, Pletcher MT, Chekler EL, Morris CA, Sahin M, Harms JF, Schmidt CJ, Kleiman RJ, Kunkel LM. Alexander MS, et al. Among authors: kleiman rj. Transl Psychiatry. 2016 Sep 27;6(9):e901. doi: 10.1038/tp.2016.174. Transl Psychiatry. 2016. PMID: 27676442 Free PMC article.
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