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 preoptic neuronal population controls fever and appetite during sickness.
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DNA methylation signature associated with Bohring-Opitz syndrome: A new tool for functional classification of variants in ASXL genes.
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A further study of relations between motor impairment and social communication, cognitive, language, functional impairments, and repetitive behavior severity in children with ASD using the SPARK study dataset.
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Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
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Leveraging a translational research approach to drive diagnostic and treatment advances for autism.
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Diagnostic preferences include discussion of etiology for adults with cerebral palsy and their caregivers.
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Parental language input predicts neuroscillatory patterns associated with language development in toddlers at risk of autism.
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Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1.
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Autistic adults have poorer quality healthcare and worse health based on self-report data.
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Combined omic analyses reveal novel loss-of-function NLGN3 variants in GnRH deficiency and autism.
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Variation in glutamate and GABA genes and their association with brain structure and chemistry in autism.
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Evidence of partner similarity for autistic traits, systemizing, and theory of mind via facial expressions.
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Resting state EEG power spectrum and functional connectivity in autism: A cross-sectional analysis.
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Myt1l haploinsufficiency leads to obesity and multifaceted behavioral alterations in mice.
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Saturated reconstruction of living brain tissue.
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Oxytocin attenuates microglial activation and restores social and non-social memory in the APP/PS1 mouse model of Alzheimer's disease.
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Loss-of-function variants in the schizophrenia risk gene SETD1A alter neuronal network activity in human neurons through cAMP/PKA pathway.
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Analysis of a repetitive language coding system: Comparisons between fragile X syndrome, autism, and Down syndrome.
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Clarity increases sensitivity and specificity of fluorescence immunostaining in long-term archived human brain tissue.
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Autism and the criminal justice system: An analysis of 93 cases.
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Neurodevelopmental profile of HIVEP2-related disorder.
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Fine-grained topographic organization within somatosensory cortex during resting-state and emotional face-matching task and its association with ASD traits.
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A bidirectional switch in the Shank3 phosphorylation state biases synapses toward up or down scaling.
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Rare CNVs and phenome-wide profiling: A tale of brain-structural divergence and phenotypical convergence.
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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
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Spatial preferences account for inter-animal variability during the continual learning of a dynamic cognitive task.
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The contributions of rare inherited and polygenic risk to ASD in multiplex families.
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Gut enterochromaffin cells are critical drivers of visceral pain and anxiety.
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Intergenerational trauma: Parental PTSD and parent-reported child abuse subtypes differentially relate to admission characteristics in the autism inpatient collection.
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CRISPR activation rescues abnormalities in SCN2A haploinsufficiency-associated autism spectrum disorder.
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COVID-19 in pregnancy: Implications for fetal brain development.
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Developmental pyrethroid exposure and age influence phenotypes in a Chd8 haploinsufficient autism mouse model.
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Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
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Two distinct types of nodes of Ranvier support auditory nerve function in the mouse cochlea.
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Selective vulnerability of tripartite synapses in amyotrophic lateral sclerosis.
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Current and lifetime somatic symptom burden among transition-aged autistic young adults.
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Comparing fathers’ and mothers’ perspectives about their child’s autism spectrum disorder.
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Glial dysregulation in human brain in fragile X-related disorders.
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Mobile elements in human population-specific genome and phenotype divergence.
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Cortical activation during cooperative joint actions and competition in children with and without an autism spectrum condition (ASC): An fNIRS study.
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Dissociable cellular and genetic mechanisms of cortical thinning at different life stages.
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The link between autism and sex-specific neuroanatomy, and associated cognition and gene expression.
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The relevance of the interpersonal theory of suicide for predicting past-year and lifetime suicidality in autistic adults.
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Multiplexed action-outcome representation by striatal striosome-matrix compartments detected with a novel cost-benefit foraging task.
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The effect of autistic traits on disembedding and mental rotation in neurotypical women and men.
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Dimensional characterizations of gender diversity are associated with higher polygenic propensity for cognitive performance in a neurodiverse sample.
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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
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Visual consciousness dynamics in adults with and without autism.