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2020HyPyP: a Hyperscanning Python Pipeline for inter-brain connectivity analysis., Soc Cogn Affect Neurosci 2020 Oct; (): .
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2020Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles., Sci Transl Med 2020 Jun; 12(547): .
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2019Morning Plasma Melatonin Differences in Autism: Beyond the Impact of Pineal Gland Volume, Front Psychiatry. 2019 Feb 6;10:11.
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2019Synesthesia & Autistic Features in a Large Family:evidence for spatial imagery as a common factor, Behav. Brain Res. 2019 Jan;.
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2017A framework to identify contributing genes in patients with Phelan-McDermid syndrome, NPJ Genom Med 2017;2:32.
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2016CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders, Mol. Psychiatry 2017 04;22(4):625-633.
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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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201511q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures, Am. J. Med. Genet. A 2015 Dec;167A(12):3019-30.
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2014Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments, PLoS Genet. 2014 Sep;10(9):e1004580.
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2014Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission, Nature 2014 Jul;511(7508):236-40.
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2014Convergence of genes and cellular pathways dysregulated in autism spectrum disorders, Am. J. Hum. Genet. 2014 May;94(5):677-94.
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2014Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders, PLoS ONE 2014;9(3):e88600.
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2013Heterozygous FA2H mutations in autism spectrum disorders, BMC Med. Genet. 2013;14:124.
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2013The emerging role of SHANK genes in neuropsychiatric disorders, Dev Neurobiol 2014 Feb;74(2):113-22.
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2013Progress toward treatments for synaptic defects in autism, Nat. Med. 2013 Jun;19(6):685-94.
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2012High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters, Mol Autism 2012;3(1):5.
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2012Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders, PLoS Genet. 2012 Feb;8(2):e1002521.
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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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2011Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations, PLoS ONE 2011;6(3):e17289.
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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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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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2010Key role for gene dosage and synaptic homeostasis in autism spectrum disorders, Trends Genet. 2010 Aug;26(8):363-72.
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2010Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls, BMC Med. Genet. 2010;11:108.
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2009[Autism: more evidence of a genetic cause], Bull. Acad. Natl. Med. 2009 Feb;193(2):299-304; discussion 304-5.
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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.