Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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In vivo interrogation of gene function in the mammalian brain using CRISPR-Cas9.
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Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome.
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From de novo mutations to personalized therapeutic interventions in autism.
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A highly conserved program of neuronal microexons is misregulated in autistic brains.
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An AUTS2-polycomb complex activates gene expression in the CNS.
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Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism.
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Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
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NPAS1 represses the generation of specific subtypes of cortical interneurons.
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MET receptor tyrosine kinase controls dendritic complexity, spine morphogenesis, and glutamatergic synapse maturation in the hippocampus.
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A multi-rater study on being teased among children/adolescents with autism spectrum disorder (ASD) and their typically developing siblings.
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Topoisomerase 1 inhibition reversibly impairs synaptic function.
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Eating in the absence of hunger but not loss of control behaviors are associated with 16p11.2 deletions.
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Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
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Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism.
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16p11.2 600 kb duplications confer risk for typical and atypical rolandic epilepsy.
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The contribution of de novo coding mutations to autism spectrum disorder.
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Gut microbes and the brain: Paradigm shift in neuroscience.
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Deterministic progenitor behavior and unitary production of neurons in the neocortex.
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Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
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Repetitive behavior in 12-month-olds later classified with autism spectrum disorder.
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The association between epilepsy and autism symptoms and maladaptive behaviors in children with autism spectrum disorder.
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Psychotropic medication use among children with autism spectrum disorders within the Simons Simplex Collection: Are core features of autism spectrum disorder related?
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The construct of the multisensory temporal binding window and its dysregulation in developmental disabilities.
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Decoding neural transcriptomes and epigenomes via high-throughput sequencing.
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Environmental enrichment modulates 5-hydroxymethylcytosine dynamics in hippocampus.
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Reducing indel calling errors in whole genome and exome sequencing data.
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Facilitated sequence counting and assembly by template mutagenesis.
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Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.
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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.
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De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
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CRISPR-CAS9 knockin mice for genome editing and cancer modeling.
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GammaCaMKII shuttles Ca2+/CaM to the nucleus to trigger CREB phosphorylation and gene expression.
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An open-source toolbox for automated phenotyping of mice in behavioral tasks.
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Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.
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Brief report: Impact of child problem behaviors and parental broad autism phenotype traits on substance use among parents of children with ASD.
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Accurate de novo and transmitted indel detection in exome-capture data using microassembly.
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Expression of the broad autism phenotype in simplex autism families from the Simons Simplex Collection.
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Neural systems for cognitive reappraisal in children and adolescents with autism spectrum disorder.
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Coregistering functional near-infrared spectroscopy with underlying cortical areas in infants.
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A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
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DNA modifications in the mammalian brain.
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Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.
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Maturation of cortical circuits requires semaphorin 7A.
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Interactions of innate and adaptive immunity in brain development and function.
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De novo TBR1 mutations in sporadic autism disrupt protein functions.
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Loss of WDFY3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology.
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Electrophysiological measures of low-level vision reveal spatial processing deficits and hemispheric asymmetry in autism spectrum disorder.
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Loss of mTOR-dependent macroautophagy causes autistic-like synaptic pruning deficits