Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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Autistic mothers' perinatal well-being and parenting styles.
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The primary ciliary deficits in cerebellar Bergmann glia of the mouse model of fragile X syndrome.
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Mapping the time course of overt emotion dysregulation, self-injurious behavior, and aggression in psychiatrically hospitalized autistic youth: A naturalistic study.
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Genome-wide by environment interaction study of stressful life events and hospital-treated depression in the iPSYCH2012 sample.
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Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models.
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High body mass polygenic risk in mothers enhances de novo functional mutations in epigenetic and microtubule gene pathways in their offspring with autism spectrum disorder.
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Dopaminergic gene dosage reveals distinct biological partitions between autism and developmental delay as revealed by complex network analysis and machine learning approaches.
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Atypical gaze patterns in autistic adults are heterogeneous across but reliable within individuals.
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Cell-type specific transcriptomic signatures of neocortical circuit organization and their relevance to autism.
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Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders.
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Multi-site normative modeling of diffusion tensor imaging metrics using hierarchical Bayesian regression.
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Focus on your locus with a massively parallel reporter assay.
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Autism is associated with interindividual variations of gray and white matter morphology.
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A capabilities approach to understanding and supporting autistic adulthood.
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Developmental variability in autism across 17000 autistic individuals and 4000 siblings without an autism diagnosis: Comparisons by cohort, intellectual disability, genetic etiology, and age at diagnosis.
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Rare variants and the oligogenic architecture of autism.
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A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
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Examining the factor structure and discriminative utility of the infant behavior questionnaire-revised in infant siblings of autistic children.
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Altered theta-beta ratio in infancy associates with family history of ADHD and later ADHD-relevant temperamental traits.
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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.
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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
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The impact of birth order on language development in autistic children from Simplex families.
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Genetic correlates of phenotypic heterogeneity in autism.
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Measuring transcription factor binding and gene expression using barcoded self-reporting transposon calling cards and transcriptomes.
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Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.
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Early life sleep disruption potentiates lasting sex-specific changes in behavior in genetically vulnerable Shank3 heterozygous autism model mice.
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GATK-gCNV: A rare copy number variant discovery algorithm and its application to exome sequencing in the UK Biobank.
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Rapid specification of human pluripotent stem cells to functional astrocytes.
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Isoform-level transcriptome-wide association uncovers extensive novel genetic risk mechanisms for neuropsychiatric disorders in the human brain.
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Measuring the response to visually presented faces in the human lateral prefrontal cortex.
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Evaluation of data imputation strategies in complex, deeply-phenotyped data sets: The case of the EU-AIMS Longitudinal European Autism Project.
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Convergent coexpression of autism associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies.
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Temporal analysis of enhancers during mouse cerebellar development reveals dynamic and novel regulatory functions.
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Digit ratio (2D:4D) and maternal testosterone-to-estradiol ratio measured in early pregnancy.
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Postmitotic accumulation of histone variant H3.3 in new cortical neurons establishes neuronal chromatin, transcriptome, and identity.
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Temporal analysis of enhancers during mouse cerebellar development reveals dynamic and novel regulatory functions.
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Clinical characteristics of seizures and epilepsy in individuals with recurrent deletions and duplications in the 16p11.2 region.
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Magnetoencephalography and electroencephalography can both detect differences in cortical responses to vibrotactile stimuli in individuals on the autism spectrum.
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Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice.
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Ca2+ imaging of self and other in medial prefrontal cortex during social dominance interactions in a tube test.
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Increased perceived stress is negatively associated with activities of daily living and subjective quality of life in younger, middle, and older autistic adults.
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A cross-disorder dosage sensitivity map of the human genome.
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D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans.
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Parental experiences with early identification and initial care for their child with autism: Tailored improvement strategies.
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"I don't do much without researching things myself": A mixed methods study exploring the role of parent health literacy in autism services use for young children.
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Recording gene expression order in DNA by CRISPR addition of retron barcodes.
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Validation of autism diagnosis and clinical data in the SPARK cohort.
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FMRP-dependent production of large dosage-sensitive proteins is highly conserved.