Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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Advancing methodologies to improve RRB outcome measures in autism research: Evaluation of the RBS-R.
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Cognitive profiles of children with autism spectrum disorder with parent-reported extraordinary talents and personal strengths.
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Superior colliculus drives stimulus-evoked directionally biased saccades and attempted head movements in head-fixed mice.
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Excitatory/inhibitory imbalance in autism: The role of glutamate and GABA gene-sets in symptoms and cortical brain structure.
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FMRP regulates mRNAs encoding distinct functions in the cell body and dendrites of CA1 pyramidal neurons.
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Environmental carcinogens disproportionally mutate genes implicated in neurodevelopmental disorders.
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Virally encoded connectivity transgenic overlay RNA sequencing (VECTORseq) defines projection neurons involved in sensorimotor integration.
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SCEPTRE improves calibration and sensitivity in single-cell CRISPR screen analysis.
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Neurodevelopmental outcomes at one year in offspring of mothers who test positive for SARS-CoV-2 during pregnancy.
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Restoring Shank3 in the rostral brainstem of shank3ab-/- zebrafish autism models rescues sensory deficits.
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Methods for inferring neural circuit interactions and neuromodulation from local field potential and electroencephalogram measures.
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Preference for biological motion is reduced in ASD: Implications for clinical trials and the search for biomarkers.
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PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.
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De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies.
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Autism risk gene POGZ promotes chromatin accessibility and expression of clustered synaptic genes.
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Cortical interneurons in autism.
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16pdel lipid changes in iPSC-derived neurons and function of FAM57B in lipid metabolism and synaptogenesis.
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Human microglia states are conserved across experimental models and regulate neural stem cell responses in chimeric organoids.
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The diagnosis of autism: From Kanner to DSM-III to DSM-5 and beyond.
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Brain mapping across 16 autism mouse models reveals a spectrum of functional connectivity subtypes.
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Pivotal response treatment for school-aged children and adolescents with autism spectrum disorder: A randomized controlled trial.
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"You must become a chameleon to survive": Adolescent experiences of camouflaging.
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The impact of COVID-19 on the mental health and wellbeing of caregivers of autistic children and youth: A scoping review.
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Exploring the genetic overlap of suicide-related behaviors and substance use disorders.
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Autism severity aggregates with family psychiatric history in a community-based autism sample.
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PTEN mutations in autism spectrum disorder and congenital hydrocephalus: Developmental pleiotropy and therapeutic targets.
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Auditory hypersensitivity and processing deficits in a rat model of fragile X syndrome.
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Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism.
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Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism.
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Social behavior in prepubertal neurexin 1α deficient rats: A model of neurodevelopmental disorders.
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Prediction of autism spectrum disorder diagnosis using nonlinear measures of language-related EEG at 6 and 12 months.
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The Mouse Action Recognition System (MARS) software pipeline for automated analysis of social behaviors in mice.
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The PAIR-R24M dataset for multi-animal 3D pose estimation.
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Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder.
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Patient brain organoids identify a link between the 16p11.2 copy number variant and the RBFOX1 gene.
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Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
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The meaning of significant mean group differences for biomarker discovery.
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Full-length transcript sequencing of human and mouse cerebral cortex identifies widespread isoform diversity and alternative splicing.
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Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants.
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Discordant associations of educational attainment with ASD and ADHD implicate a polygenic form of pleiotropy.
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The organization and developmental establishment of cortical interneuron presynaptic circuits.
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Sex significantly impacts the function of major depression-linked variants in vivo.
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S100B dysregulation during brain development affects synaptic SHANK protein networks via alteration of zinc homeostasis.
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An approach to gene-based testing accounting for dependence of tests among nearby genes.
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A recurrent SHANK3 frameshift variant in autism spectrum disorder.
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Neuronal and glial cell number is altered in a cortical layer-specific manner in autism.
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Bottom-up inputs are required for establishment of top-down connectivity onto cortical layer 1 neurogliaform cells.