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2019Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations, Sci Rep 2019 Jan;9(1):94.
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2015Three-dimensional Quantification of Dendritic Spines from Pyramidal Neurons Derived from Human Induced Pluripotent Stem Cells, J Vis Exp 2015 Oct;(104).
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2015A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability, Eur. J. Hum. Genet. 2016 Jun;24(6):838-43.
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2012Crystal structure and functional mapping of human ASMT, the last enzyme of the melatonin synthesis pathway, J. Pineal Res. 2013 Jan;54(1):46-57.
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2011Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders, J. Pineal Res. 2011 Nov;51(4):394-9.
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2011Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disability, BMC Med. Genet. 2011;12:17.
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2010Production of soluble, active acetyl serotonin methyl transferase in Leishmania tarentolae, Protein Expr. Purif. 2011 Jan;75(1):114-8.
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2010Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population, PLoS ONE 2010;5(7):e11495.
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2009An investigation of ribosomal protein L10 gene in autism spectrum disorders, BMC Med. Genet. 2009;10:7.
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2008Analysis of X chromosome inactivation in autism spectrum disorders, Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008 Sep;147B(6):830-5.
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