Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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The roles of sensory hyperreactivity and hyporeactivity in understanding infant fearfulness and emerging autistic traits.
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Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.
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Perception and adaptation of receptive prosody in autistic adolescents.
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Discovering the gene-brain-behavior link in autism via generative machine learning.
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Sex-biasing influence of autism-associated Ube3a gene overdosage at connectomic, behavioral, and transcriptomic levels.
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Reduced precision of motor and perceptual rhythmic timing in autistic adults.
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A critical review of the impact of candidate copy number variants on autism spectrum disorder.
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iPSC-derived astrocytes and neurons replicate brain gene expression, epigenetic, cell morphology and connectivity alterations found in autism.
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Aging well and autism: A narrative review and recommendations for future research.
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Early developmental origins of cortical disorders modeled in human neural stem cells.
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Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder.
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Phenotypic and ancestry-related assortative mating in autism.
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Genetic and phenotypic heterogeneity in early neurodevelopmental traits in the Norwegian Mother, Father and Child Cohort Study.
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Relationship between sex biases in gene expression and sex biases in autism and Alzheimer’s disease.
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The neural bases of language processing during social and non-social contexts: A fNIRS study of autistic and neurotypical preschool-aged children.
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Using organoids to model sex differences in the human brain.
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Beyond the diagnosis: Evaluation of quality-of-life measures and family functioning in SLC6A1-related neurodevelopmental disorder.
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Caregiver greeting to infants under 6 months already reflects emerging differences in those later diagnosed with autism.
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Compensation between FOXP transcription factors maintains proper striatal function.
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Assessment of social connection among autistic and non-autistic adults: A proof of concept study for the Connections with Others Scales.
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Molecular cascades and cell-type specific signatures in ASD revealed by single cell genomics.
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Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms.
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Putting the spotlight back onto the flanker task in autism: Autistic adults show increased interference from foils compared with non-autistic adults.
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CWAS-Plus: estimating category-wide association of rare noncoding variation from whole-genome sequencing data with cell-type-specific functional data.
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Leveraging polygenic scores to go beyond examinations of pathology among gender-diverse individuals.
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Moral foundations in autistic people and people with systemizing minds.
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Factors associated with receptive and expressive language in autistic children and siblings: A systematic review.
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Phenotypical divergence between self-reported and clinically ascertained autism.
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Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability.
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The social shapes test as a self-administered, online measure of social intelligence: Two studies with typically developing adults and adults with autism spectrum disorder.
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Dissociation between linguistic and nonlinguistic statistical learning in children with autism.
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Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
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Motor difficulties in 16p11.2 copy number variation.
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Effects of gene dosage and development on subcortical nuclei volumes in individuals with 22q11.2 copy number variations.
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Fewer children with autism spectrum disorder with motor challenges receive physical and recreational therapies compared to standard therapies: A SPARK data set analysis.
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Fewer children with autism spectrum disorder with motor challenges receive physical and recreational therapies compared to standard therapies: A SPARK data set analysis.
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No differences in auditory steady-state responses in children with autism spectrum disorder and typically developing children.
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Frequency and correlates of augmentative and alternative communication use in an autistic inpatient sample.
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Demographic differences in access to health/therapeutic services over first year of the pandemic: a SPARK COVID-19 impact survey analysis.
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Ketamine induces multiple individually distinct whole-brain functional connectivity signatures.
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Male-dominant effects of Chd8 haploinsufficiency on synaptic phenotypes during development in mouse prefrontal cortex.
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Contribution of autosomal rare and de novo variants to sex differences in autism.
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Improvement of variant reclassification in genetic neurodevelopmental conditions.
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Pathogenic gating pore current conducted by autism-related mutations in the NaV1.2 brain sodium channel.
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Impact of a genetic diagnosis for a child's autism on parental perceptions.
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A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
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Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach.
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Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.