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2023Phenotypic effects of genetic variants associated with autism., Nat Med 2023 Jun; (): .
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2022Insights from an autism imaging biomarker challenge: Promises and threats to biomarker discovery., Neuroimage 2022 Jul; 255(): 119171.
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2021Discriminant value of repetitive behaviors in families with autism spectrum disorder and obsessional compulsive disorder probands., Autism Res 2021 Jul; (): .
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2021Operative list of genes associated with autism and neurodevelopmental disorders based on database review., Mol Cell Neurosci 2021 Jun; 113(): 103623.
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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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2019Synesthesia & Autistic Features in a Large Family:evidence for spatial imagery as a common factor, Behav. Brain Res. 2019 Jan;.
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2019Morning Plasma Melatonin Differences in Autism: Beyond the Impact of Pineal Gland Volume., Front Psychiatry 2019 ; 10(): 11.
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2018Cerebellar Volume in Autism: Literature Meta-analysis and Analysis of the Autism Brain Imaging Data Exchange Cohort., Biol Psychiatry 2018 Apr; 83(7): 579-588.
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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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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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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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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 Mar; 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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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.