Autism Rat Models Consortium: Publications
From ARC
Results
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Cellular and synaptic network defects in autism.
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Unreliable evoked responses in autism.
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The emerging biology of autism spectrum disorders.
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The E3 ubiquitin ligase protein associated with Myc (PAM) regulates mammalian/mechanistic target of rapamycin complex 1 (mTORC1) signaling in vivo through N- and C-terminal domains.
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Optogenetic control of phosphoinositide metabolism.
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Neurexin and neuroligin mediate retrograde synaptic inhibition in Celegans.
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Utility of the Social Communication Questionnaire-Current and Social Responsiveness Scale as teacher-report screening tools for autism spectrum disorders.
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Modeling human cortical development in vitro using induced pluripotent stem cells.
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Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorder.
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Emotional and behavioral adjustment in typically developing siblings of children with autism spectrum disorders.
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Activity-dependent phosphorylation of GABA A receptors regulates receptor insertion and tonic current.
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Exome sequencing can improve diagnosis and alter patient management.
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Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects.
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Differences in white matter fiber tract development present from 6 to 24 months in infants with autism.
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Brain volume findings in 6-month-old infants at high familial risk for autism.
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Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.
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Functional regulation of GABAA receptors in nervous system pathologies.
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Synapse adhesion: A dynamic equilibrium conferring stability and flexibility.
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Abnormal microglial-neuronal spatial organization in the dorsolateral prefrontal cortex in autism.
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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
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KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
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Rett syndrome: Genes, synapses, circuits, and therapeutics.
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Distinct plasma profile of polar neutral amino acids, leucine, and glutamate in children with autism spectrum disorders.
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Developmental trajectories of resting EEG power: An endophenotype of autism spectrum disorder.
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High‐throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism
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De novo gene disruptions in children on the autistic spectrum.
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The emerging role of microRNAs in schizophrenia and autism spectrum disorders.
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Functional consequences of mutations in postsynaptic scaffolding proteins and relevance to psychiatric disorders.
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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
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The pathophysiology of fragile X (and what it teaches us about synapses)
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
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De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
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Relationship between the social functioning of children with autism spectrum disorders and their siblings’ competencies/problem behaviors.
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Age-associated DNA methylation in pediatric populations.
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Tympanostomy tube placement in children with autism.
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Synaptic cell adhesion.
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Simons Variation in Individuals Project (Simons VIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders.
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Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.
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Neurocognitive and behavioral outcomes of younger siblings of children with autism spectrum disorder at age five.
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A multisite study of the clinical diagnosis of different autism spectrum disorders.
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Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities.
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Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
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Preprocessing and quality control strategies for Illumina DASL assay-based brain gene expression studies with semi-degraded samples.
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PtdIns4P synthesis by PI4KIII-alpha at the plasma membrane and its impact on plasma membrane identity.
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Accuracy of phenotyping children with autism based on parent report: What specifically do we gain phenotyping ‘rapidly’?
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Postmortem cardiac tissue maintains gene expression profile even after late harvesting.
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CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
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Predicting improvement in social-communication symptoms of autism spectrum disorders using retrospective treatment data.