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2020Mass-spectrometry analysis of the human pineal proteome during night and day and in autism., J Pineal Res 2020 Dec; (): e12713.
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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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2006Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders, Nat. Genet. 2007 Jan;39(1):25-7.
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2006Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders, Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006 Jan;141B(1):67-70.