Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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Comparison of fecal microbiota in children with autism spectrum disorders and neurotypical siblings in the Simons Simplex Collection.
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Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.
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Replication of standardized ADOS domain scores in the Simons Simplex Collection.
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Structural gray matter differences during childhood development in autism spectrum disorder: A multimetric approach.
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16p11.2 deletion syndrome mice display sensory and ultrasonic vocalization deficits during social interactions.
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De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay.
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The tumor suppressor p53 guides GluA1 homeostasis through Nedd4-2 during chronic elevation of neuronal activity.
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Eye-tracking measurements of language processing: Developmental differences in children at high risk for ASD.
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Atypical processing of voice sounds in infants at risk for autism spectrum disorder.
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Characterizing autism spectrum disorders by key biochemical pathways.
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Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci.
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Sex differences in structural organization of motor systems and their dissociable links with repetitive/restricted behaviors in children with autism.
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Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss.
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MeCP2 regulates the timing of critical period plasticity that shapes functional connectivity in primary visual cortex.
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Neuroligins sculpt cerebellar Purkinje-cell circuits by differential control of distinct classes of synapses.
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Altered neuronal and circuit excitability in fragile X syndrome.
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Comprehensive analysis of the 16p11.2 deletion and null CNTNAP2 mouse models of autism spectrum disorder.
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An autism-linked mutation disables phosphorylation control of UBE3A.
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Symmetrical dose-dependent DNA-methylation profiles in children with deletion or duplication of 7q11.23.
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Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling.
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Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression.
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Abnormal auditory and language pathways in children with 16p11.2 deletion.
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Preliminary evidence of neuropathology in nonhuman primates prenatally exposed to maternal immune activation.
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First glimpses of the neurobiology of autism spectrum disorder.
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Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders.
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Immune mediators in the brain and peripheral tissues in autism spectrum disorder.
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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
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A computational perspective on autism.
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Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications.
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Arginine vasopressin is a blood-based biomarker of social functioning in children with autism.
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FOXG1-dependent dysregulation of GABA/glutamate neuron differentiation in autism spectrum disorders.
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Functional connectivity hubs of the mouse brain.
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PTEN mutations alter brain growth trajectory and allocation of cell types through elevated beta-catenin signaling.
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Cerebellar associative sensory learning defects in five mouse autism models.
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Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
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Brain genomics superstruct project initial data release with structural, functional, and behavioral measures.
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Sex differences in cortical volume and gyrification in autism.
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Paired-duplication signatures mark cryptic inversions and other complex structural variation.
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Altered corpus callosum morphology associated with autism over the first 2 years of life.
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In tribute to Bob Blanchard: Divergent behavioral phenotypes of 16p11.2 deletion mice reared in same-genotype versus mixed-genotype cages.
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Shortened telomeres in families with a propensity to autism.
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Children with 7q11.23 duplication syndrome: Psychological characteristics.
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Modeling a model: Mouse genetics, 22q11.2 deletion syndrome, and disorders of cortical circuit development.
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Inactivating mutations in MFSD2A required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
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Early sex differences are not autism-specific: A Baby Siblings Research Consortium (BSRC) study.
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Inside-out radial migration facilitates lineage-dependent neocortical microcircuit assembly.
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Excess of rare, inherited truncating mutations in autism.
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Neural variability: Friend or foe?