Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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The emergence of network inefficiencies in infants with autism spectrum disorder.
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Post-zygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.
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Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.
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Differing developmental trajectories in heart rate responses to speech stimuli in infants at high and low risk for autism spectrum disorder.
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Opposing effects on Nav1.2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures.
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Targeted interneuron depletion in the dorsal striatum produces autism-like behavioral abnormalities in male but not female mice.
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The autism-linked UBE3AT485A mutant E3 ubiquitin ligase activates the Wnt/beta-catenin pathway by inhibiting the proteasome.
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Pupil adaptation corresponds to quantitative measures of autism traits in children.
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Retrograde synaptic inhibition is mediated by alpha-neurexin binding to the alpha2delta subunits of N-type calcium channels.
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Evolution of the human nervous system function, structure, and development.
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Measuring shared variants in cohorts of discordant siblings with applications to autism.
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A rapid chemical-genetic screen utilizing impaired movement phenotypes in C. elegans: Input into genetics of neurodevelopmental disorders.
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Shorter sleep duration is associated with social impairment and comorbidities in ASD.
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Multisensory speech perception in autism spectrum disorder: From phoneme to whole-word perception.
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UBE3A loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice.
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
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Mapping 22q11.2 gene dosage effects on brain morphometry.
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Neuroanatomy in mouse models of Rett syndrome is related to the severity of Mecp2 mutation and behavioral phenotypes.
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Epidemiological and serological investigation into the role of gestational maternal influenza virus infection and autism spectrum disorders.
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Hierarchical cortical transcriptome disorganization in autism.
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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
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Pathogenic variants that alter protein code often disrupt splicing.
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Developmental trajectories for young children with 16p11.2 copy number variation.
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Arbaclofen in children and adolescents with autism spectrum disorder: A randomized, controlled, phase 2 trial.
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Identification of developmental and behavioral markers associated with genetic abnormalities in autism spectrum disorder.
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Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism.
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De novo indels within introns contribute to ASD incidence.
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Predictors of inpatient psychiatric hospitalization for children and adolescents with autism spectrum disorder.
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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
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Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levels in patients with autism spectrum disorders.
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Oxytocin under opioid antagonism leads to supralinear enhancement of social attention.
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High-risk autism spectrum disorder Utah pedigrees: a novel shared genomic segments analysis.
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Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: A parallel mouse and human analysis.
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Shank is a dose-dependent regulator of Cav1 calcium current and CREB target expression.
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De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females.
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The placental interleukin-6 signaling controls fetal brain development and behavior.
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CHD8 mutation leads to autistic-like behaviors and impaired striatal circuits.
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Neurogenetic analysis of childhood disintegrative disorder.
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De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
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Hyperactivity and male-specific sleep deficits in the 16p11.2 deletion mouse model of autism.
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Auditory processing in noise is associated with complex patterns of disrupted functional connectivity in autism spectrum disorder.
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
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Striatal cholinergic interneurons modulate spike-timing in striosomes and matrix by an amphetamine-sensitive mechanism.
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Diverse non-genetic, allele-specific expression effects shape genetic architecture at the cellular level in the mammalian brain.
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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
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Neural circuitry at age 6 months associated with later repetitive behavior and sensory responsiveness in autism.
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RNA sequencing of transformed lymphoblastoid cells from siblings discordant for autism spectrum disorders reveals transcriptomic and functional alterations: Evidence for sex-specific effects.