Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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A longitudinal study of parent gestures, infant responsiveness, and vocabulary development in infants at risk for autism spectrum disorder.
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Precision autism: Genomic stratification of disorders making up the broad spectrum may demystify its "epidemic rates".
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Macrophages on the margin: Choroid plexus immune responses.
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Genetically identified amygdala-striatal circuits for valence-specific behaviors.
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Analysis of the SPARK study COVID-19 parent survey: Early impact of the pandemic on access to services, child/parent mental health, and benefits of online services.
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Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries.
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Development of the pupillary light reflex from 9 to 24 months: Association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis.
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Oestrogen engages brain MC4R signalling to drive physical activity in female mice.
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Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.
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Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.
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De novo variant calling identifies cancer mutation profiles in the 1000 Genomes Project.
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De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
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Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions.
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mTOR-related synaptic pathology causes autism spectrum disorder-associated functional hyperconnectivity.
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Altered inflammatory response in FMRP-deficient microglia.
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Customized de novo mutation detection for any variant calling pipeline: SynthDNM.
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Oligogenic combinations of rare variants influence specific phenotypes in complex disorders.
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Effects of early geometric confinement on the transcriptomic profile of human cerebral organoids.
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Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
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Investigating the structure of trait rumination in autistic adults: A network analysis.
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How rare and common risk variation jointly affect liability for autism spectrum disorder.
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Computational fingerprints: Modeling interactions between brain regions as points in a function space.
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Identification of neural oscillations and epileptiform changes in human brain organoids.
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Brief report: Impact of COVID-19 on individuals with ASD and their caregivers: A perspective from the SPARK cohort.
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Bayesian estimation of cell-type-specific gene expression with prior derived from single-cell data.
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Analysis of gait synchrony and balance in neurodevelopmental disorders using computer vision techniques.
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Probing mechanisms of visual spatial attention in mice.
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Single-cell epigenomics reveals mechanisms of human cortical development.
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Regulation of prefrontal patterning and connectivity by retinoic acid.
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Psychological distress among caregivers raising a child with autism spectrum disorder during the COVID-19 pandemic.
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Placental endocrine function shapes cerebellar development and social behavior.
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Systemic enhancement of serotonin signaling reverses social deficits in multiple mouse models for ASD.
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Social and non-social sensory responsivity in toddlers at high-risk for autism spectrum disorder.
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A human pleiotropic multiorgan condition caused by deficient Wnt secretion.
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Spatial modulation of dark versus bright stimulus responses in the mouse visual system.
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Adaptation and serial choice bias are unaltered in autism.
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Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution.
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Genetic counseling as preventive intervention: Toward individual specification of transgenerational autism risk.
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Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro.
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SUPERGNOVA: Local genetic correlation analysis reveals heterogeneous etiologic sharing of complex traits.
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Translating polygenic risk scores for clinical use by estimating the confidence bounds of risk prediction.
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Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity.
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Mapping the research domain criteria social processes constructs to the social responsiveness scale.
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utr.annotation: A tool for annotating genomic variants that could influence post-transcriptional regulation.
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Atypical genomic cortical patterning in autism with poor early language outcome.
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Distinct ensembles in the noradrenergic locus coeruleus evoke diverse cortical states.
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Developmental and temporal characteristics of clonal sperm mosaicism.
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Reduced sensory habituation in autism and its correlation with behavioral measures.