Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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Motor impairment increases in children with autism spectrum disorder as a function of social communication, cognitive and functional impairment, repetitive behavior severity, and comorbid diagnoses: A SPARK study report.
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Neuronal correlates of strategic cooperation in monkeys.
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SCN2A-developmental and epileptic encephalopathies: Challenges to trial-readiness for non-seizure outcomes.
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A genetics-first approach to dissecting the heterogeneity of autism: Phenotypic comparison of autism risk copy number variants.
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Eliciting language samples for analysis (ELSA): A new protocol for assessing expressive language and communication in autism.
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Transcriptomic insight into the polygenic mechanisms underlying psychiatric disorders.
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Emotion dysregulation is substantially elevated in autism compared to the general population: Impact on psychiatric services.
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H-MAGMA, inheriting a shaky statistical foundation, yields excess false positives.
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CLIP and massively parallel functional analysis of CELF6 reveal a role in destabilizing synaptic gene mRNAs through interaction with 3′ UTR elements.
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The parvalbumin hypothesis of autism spectrum disorder.
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Detection of eye contact with deep neural networks is as accurate as human experts.
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Developmental loss of ErbB4 in PV interneurons disrupts state-dependent cortical circuit dynamics.
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Missense variant contribution to USP9X-female syndrome.
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Inflammation of the embryonic choroid plexus barrier following maternal immune activation.
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Serotonin differentially modulates the temporal dynamics of the limbic response to facial emotions in male adults with and without autism spectrum disorder (ASD): A randomised placebo-controlled single-dose crossover trial.
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Acute social isolation evokes midbrain craving responses similar to hunger.
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Early motor differences in infants at elevated likelihood of autism spectrum disorder and/or attention deficit hyperactivity disorder.
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FMRP links optimal codons to mRNA stability in neurons.
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Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome.
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Sound generation in zebrafish with bio-opto-acoustics.
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'There and back again'-forward genetics and reverse phenotyping in pulmonary arterial hypertension.
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Distinct prefrontal top-down circuits differentially modulate sensorimotor behavior.
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DNMT3A haploinsufficiency results in behavioral deficits and global epigenomic dysregulation shared across neurodevelopmental disorders.
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The stability flexibility tradeoff and the dark side of detail.
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Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.
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Identifying cell type specific driver genes in autism-associated copy number loci from cerebral organoids.
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Phenotypic subtyping and re-analyses of existing transcriptomic data from autistic probands in simplex families reveal differentially expressed and ASD trait-associated genes.
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16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development.
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TRAP-based allelic translation efficiency imbalance analysis to identify genetic regulation of ribosome occupancy in specific cell types in vivo.
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Altered hippocampal-prefrontal communication during anxiety-related avoidance in mice deficient for the autism-associated gene Pogz.
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Fractionating autism based on neuroanatomical normative modeling.
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Mapping the research domain criteria social processes constructs to the social responsiveness scale.
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Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA.
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Atypical development of attentional control associates with later adaptive functioning, autism and ADHD traits.
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Revealing the structure of pharmacobehavioral space through motion sequencing.
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A configurable model of the synaptic proteome reveals the molecular mechanisms of disease co-morbidity.
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Brunner syndrome associated MAOA dysfunction in human dopaminergic neurons results in NMDAR hyperfunction and increased network activity.
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Modeling flexible behavior in childhood to adulthood shows age-dependent learning mechanisms and less optimal learning in autism in each age group.
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Gamete simulation improves polygenic transmission disequilibrium analysis.
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Regulation of neural gene expression by estrogen receptor alpha.
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Accurate brain age prediction with lightweight deep neural networks.
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Mutations associated with neuropsychiatric conditions delineate functional brain connectivity dimensions contributing to autism and schizophrenia.
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Heterozygous deletion of SYNGAP enzymatic domains in rats causes selective learning, social and seizure phenotypes.
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Human cerebral organoids reveal early spatiotemporal dynamics and pharmacological responses of UBE3A.
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Characterization of special interests in autism spectrum disorder: A brief review and pilot study using the special interests survey.
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Developmental paths to anxiety in an autism-enriched infant cohort: The role of temperamental reactivity and regulation.
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Alexithymia in autism: Cross-sectional and longitudinal associations with social-communication difficulties, anxiety and depression symptoms.
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De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.