Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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Accelerated hyper-maturation of parvalbumin circuits in the absence of MeCP2.
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Cell-type-specific regulation of neuronal intrinsic excitability by macroautophagy.
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Distinct pathogenic genes causing intellectual disability and autism exhibit a common neuronal network hyperactivity phenotype.
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Systematic phenomics analysis of ASD-associated genes reveals shared functions and parallel networks underlying reversible impairments in habituation learning.
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Ketamine disinhibits dendrites and enhances calcium signals in prefrontal dendritic spines.
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Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
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IL-17a promotes sociability in mouse models of neurodevelopmental disorders.
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Signatures of sex: Sex differences in gene expression in the vertebrate brain.
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Prenatal treatment path for Angelman syndrome and other neurodevelopmental disorders.
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Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome.
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FMRP has a cell-type-specific role in CA1 pyramidal neurons to regulate autism-related transcripts and circadian memory.
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Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.
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A MEG study of acute arbaclofen (STX-209) administration.
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Massively parallel disruption of enhancers active during human corticogenesis.
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Distinct patterns of neural habituation and generalization in children and adolescents with autism with low and high sensory overresponsivity.
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VariCarta: A comprehensive database of harmonized genomic variants found in autism spectrum disorder sequencing studies.
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Dynamics of social representation in the mouse prefrontal cortex.
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T-lymphocytes and cytotoxic astrocyte blebs correlate across autism brains.
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Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.
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Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 copy number variations.
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Brief report: Pupillometry, visual perception, and ASD features in a task-switching paradigm.
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Purkinje cell-specific Grip1/2 knockout mice show increased repetitive self-grooming and enhanced mGluR5 signaling in cerebellum.
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Early language exposure supports later language skills in infants with and without autism.
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Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants.
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Deciphering the biological mechanisms underlying the genome-wide associations between computerized device use and psychiatric disorders.
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G-graph: An interactive genomic graph viewer.
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The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism individuals.
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Combinatorial targeting of distributed forebrain networks reverses noise hypersensitivity in a model of autism spectrum disorder.
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Engineering of human brain organoids with a functional vascular-like system.
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Home-cage hypoactivity in mouse genetic models of autism spectrum disorder.
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A unified circuit for social behavior.
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Critical period inhibition of NKCC1 rectifies synapse plasticity in the somatosensory cortex and restores adult tactile response maps in fragile X mice.
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Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
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Quantitative gait assessment in children with 16p11.2 syndrome.
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Altered dendritic spine function and integration in a mouse model of fragile X syndrome.
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Monosynaptic tracing maps brain-wide afferent oligodendrocyte precursor cell connectivity.
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A GluN2B mutation identified in autism prevents NMDA receptor trafficking and interferes with dendrite growth.
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Optical pooled screens in human cells.
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GABAergic inhibition gates perceptual awareness during binocular rivalry.
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
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Impaired regulation of KCC2 phosphorylation leads to neuronal network dysfunction and neurodevelopmental pathology.
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Developmentally regulated KCC2 phosphorylation is essential for dynamic GABA-mediated inhibition and survival.
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Developmental trajectories of infants with multiplex family risk for autism: A Baby Siblings Research Consortium study.
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Complex oscillatory waves emerging from cortical organoids model early human brain network development.
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Altered neural connectivity in females, but not males with autism: Preliminary evidence for the female protective effect from a quality-controlled diffusion tensor imaging study.
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Gaining insights into aggressive behaviour in autism spectrum disorder using latent profile analysis.
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Functional flexibility in cortical circuits.
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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.