Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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Reciprocal copy number variations at 22q11.2 produce distinct and convergent neurobehavioral impairments relevant for schizophrenia and autism spectrum disorder.
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Symmetric neural progenitor divisions require chromatin-mediated homologous recombination DNA repair by Ino80.
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Genome-wide detection of tandem DNA repeats that are expanded in autism.
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Vaccine hesitancy and attributions for autism among racially and ethnically diverse groups of parents of children with autism spectrum disorder: A pilot study.
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Cross-species regulatory sequence activity prediction.
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A psychometrically robust screening tool to rapidly identify socially impaired monkeys in the general population.
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Cortico-basal ganglia circuits underlying dysfunctional control of motor behaviors in neuropsychiatric disorders.
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DAS-II cognitive profiles are not diagnostically meaningful for autism: A ROC analysis.
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Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders.
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Tauopathy in the young autistic brain: Novel biomarker and therapeutic target.
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Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice.
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The genetic control of stoichiometry underlying autism.
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Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder.
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Mapping and characterization of structural variation in 17,795 human genomes.
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A multiplex human pluripotent stem cell platform defines molecular and functional subclasses of autism-related genes.
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Measuring robustness of brain networks in autism spectrum disorder with Ricci curvature.
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Reciprocal influences between parent input and child language skills in dyads involving high- and low-risk infants for autism spectrum disorder.
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The role of somatic mosaicism in brain disease.
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Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers.
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Kalirin and Trio: RhoGEFs in synaptic transmission, plasticity, and complex brain disorders.
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Does the factor structure of IQ differ between the differential ability scales (DAS-II) normative sample and autistic children?
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Gesture development, caregiver responsiveness, and language and diagnostic outcomes in infants at high and low risk for autism.
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A selective inference approach for false discovery rate control using multiomics covariates yields insights into disease risk.
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Neuronal inactivity co-opts LTP machinery to drive potassium channel splicing and homeostatic spike widening.
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Parallel RNA and DNA analysis after deep-sequencing (PRDD-seq) reveals cell type specific lineage patterns in human brain.
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Cortical neurons derived from human pluripotent stem cells lacking FMRP display altered spontaneous firing patterns.
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Dissecting autism genetic risk using single-cell RNA-seq data.
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Social attention: What is it, how can we measure it, and what can it tell us about autism and ADHD?
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GABA A Rα2 is decreased in the axon initial segment of pyramidal cells in specific areas of the prefrontal cortex in autism.
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Reduced sleep pressure in young children with autism.
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De novo damaging DNA coding mutations are associated with obsessive-compulsive disorder and overlap with Tourette’s disorder and autism.
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Microexons: At the nexus of nervous system development, behaviour and autism spectrum disorder.
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Mutational bias and the protein code shape the evolution of splicing enhancers.
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Autism-associated Shank3 is essential for homeostatic compensation in rodent V1.
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Neural and behavioural indices of face processing in siblings of children with autism spectrum disorder (ASD): A longitudinal study from infancy to mid-childhood.
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Neuroinflammatory gene expression alterations in anterior cingulate cortical white and gray matter of males with autism spectrum disorder.
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Insulin-like growth factor and insulin-like growth factor receptor expression in human idiopathic autism fusiform gyrus tissue.
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Identification of amygdala-expressed genes associated with autism spectrum disorder.
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A structural variation reference for medical and population genetics.
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Saccade dysmetria indicates attenuated visual exploration in autism spectrum disorder.
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Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome.
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Increased variability but intact integration during visual navigation in autism spectrum disorder.
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Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1.
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Insufficient evidence for “autism-specific” genes.
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Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.
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Observed emotional reactivity in response to frustration tasks in psychiatrically hospitalized youth with autism spectrum disorder.
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N-terminal variant Asp14Asn of the human p70 S6 Kinase 1 enhances translational signaling causing different effects in developing and mature neuronal cells.
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A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness.