Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
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CYFIP1 dosages exhibit divergent behavioral impact via diametric regulation of NMDA receptor complex translation in mouse models of psychiatric disorders.
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Gestationally-dependent immune organization at the maternal-fetal interface.
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Sex-biasing influence of autism-associated Ube3a gene overdosage at connectomic, behavioral and transcriptomic levels.
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Developmental disruption and restoration of brain synaptome architecture in the murine Pax6 neurodevelopmental disease model.
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Genomic architecture of autism from comprehensive whole-genome sequence annotation.
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Mapping human social brain specialisation beyond the neuron using multimodal imaging in human infants.
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Copy number variation and structural genomic findings in 116 cases of sudden unexplained death between 1 and 28 months of age.
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Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD.
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Similar rates of deleterious copy number variants in early-onset psychosis and autism spectrum disorder.
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Patterns of sleep disturbances and associations with depressive symptoms in autistic young adults.
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Associations between co-occurring conditions and age of autism diagnosis: Implications for mental health training and adult autism research.
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Sensory processing in 16p11.2 deletion and 16p11.2 duplication.
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Ketamine induces multiple individually distinct whole-brain functional connectivity signatures.
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Generation of DNA methylation signatures and classification of variants in rare neurodevelopmental disorders using epigencentral.
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Intact amphetamine-induced behavioral sensitization in mice with increased or decreased neuronal glutamate transporter SLC1A1/EAAT3.
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Co-occurring ADHD symptoms in autistic adults are associated with less independence in daily living activities and lower subjective quality of life.
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Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.
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Behavioral responses to fevers and other medical events in children with and without ASD.
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Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.
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Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.
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Clinical characteristics of youth with autism or developmental disability during inpatient psychiatric admission.
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In vivo proximity ligation reveals endogenous candidate interactors of neurexin's intracellular domain.
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Rhesus monkey sociality is stable across time and linked to variation in the initiation but not receipt of prosocial behavior.
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Associations between executive functioning, challenging behavior, and quality of life in children and adolescents with and without neurodevelopmental conditions.
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Hyperexcitable and immature-like neuronal activity in the auditory cortex of adult rats lacking the language-linked CNTNAP2 gene.
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Can the "female protective effect" liability threshold model explain sex differences in autism spectrum disorder?
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Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations.
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Cerebellar atypicalities in autism?
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Stepped-care cognitive behavioral therapy in children on the autism spectrum with co-occurring anxiety.
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Targeted de novo phasing and long-range assembly by template mutagenesis.
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Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.
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Exploring the symptom profiles of intolerance of uncertainty in autistic children.
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Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer.
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Precision psychiatry requires disentangling disorder-specific variation: The case of ASD.
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A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.
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ASD gene Bcl11a regulates subcellular RNA localization, associative circuitry, and social behavior.
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KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design.
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Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
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Exclusion of females in autism research: Empirical evidence for a "leaky" recruitment-to-research pipeline.
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GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
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Oxytocin enhances basolateral amygdala activation and functional connectivity while processing emotional faces: Preliminary findings in autistic vs non-autistic women.
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Investigating the contributions of circadian pathway and insomnia risk genes to autism and sleep disturbances.
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QuNex — An integrative platform for reproducible neuroimaging analytics.
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Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits.
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Reexamining empathy in autism: Empathic disequilibrium as a novel predictor of autism diagnosis and autistic traits.
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Social attention in anorexia nervosa and autism spectrum disorder: Role of social motivation.
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What are you looking at? Gaze following with and without target objects in asd and typical development.