Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
-
Perception of cry characteristics in 1-month-old infants later diagnosed with autism spectrum disorder.
-
A longitudinal study of parent-reported sensory responsiveness in toddlers at-risk for autism.
-
Impaired voice processing in reward and salience circuits predicts social communication in children with autism.
-
Modeling autism-related disorders in mice with maternal immune activation (MIA).
-
Aberrant somatosensory processing and connectivity in mice lacking Engrailed-2.
-
Differential NOVA2-mediated splicing in excitatory and inhibitory neurons regulates cortical development and cerebellar function.
-
Increased excitation-inhibition ratio stabilizes synapse and circuit excitability in four autism mouse models.
-
Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP.
-
Recessive rare variants in deoxyhypusine synthase, an enzyme involved in the synthesis of hypusine, are associated with a neurodevelopmental disorder.
-
Establishing cerebral organoids as models of human-specific brain evolution.
-
mTOR suppresses macroautophagy during postnatal development of the striatum.
-
Predicting splicing from primary sequence with deep learning.
-
Disentangling polygenic associations between attention-deficit/hyperactivity disorder, educational attainment, literacy and language.
-
Both rare and common genetic variants contribute to autism in the Faroe Islands.
-
An interaction-based model for neuropsychiatric features of copy-number variants.
-
Psychiatric disorders in children with 16p11.2 deletion and duplication.
-
Dendritic spines in early postnatal fragile X mice are insensitive to novel sensory experience.
-
Single-cell RNA sequencing of microglia throughout the mouse lifespan and in the injured brain reveals complex cell-state changes.
-
Single-cell transcriptomic analysis of mouse neocortical development.
-
Customized head molds reduce motion during resting state fMRI scans.
-
Nucleosome turnover regulates histone methylation patterns over the genome.
-
The NeuroDev study: Phenotypic and genetic characterization of neurodevelopmental disorders in Kenya and South Africa.
-
Spectrum or subtypes? A latent profile analysis of restricted and repetitive behaviours in autism.
-
Outgroup machine learning approach identifies single nucleotide variants in noncoding DNA associated with autism spectrum disorder.
-
Early motor abilities in infants at heightened versus low risk for ASD: A Baby Siblings Research Consortium (BSRC) study.
-
Interacting neural ensembles in orbitofrontal cortex for social and feeding behaviour.
-
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
-
The ASD living biology: From cell proliferation to clinical phenotype.
-
Deregulation of synaptic plasticity in autism.
-
Integrative functional genomic analysis of human brain development and neuropsychiatric risks.
-
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder.
-
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.
-
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
-
Cellular-resolution imaging of vestibular processing across the larval zebrafish brain.
-
Diffuse light-sheet microscopy for stripe-free calcium imaging of neural populations.
-
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
-
Neural coding of sex-specific social information in the mouse brain.
-
Psychometric properties of the Simons Simplex Collection sleep interview.
-
Brain organoids and the study of neurodevelopment.
-
Thalamic regulation of switching between cortical representations enables cognitive flexibility.
-
Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes.
-
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.
-
Partial loss of psychiatric risk gene Mir137 in mice causes repetitive behavior and impairs sociability and learning via increased Pde10a.
-
Regulation of cell-type-specific transcriptomes by microRNA networks during human brain development.
-
Rbfox1 mediates cell-type-specific splicing in cortical interneurons.
-
Problem behaviors in autism spectrum disorder: Association with verbal ability and adapting/coping skills.
-
Genome-wide CRISPR-Cas9 interrogation of splicing networks reveals a mechanism for recognition of autism-misregulated neuronal microexons.
-
m6A facilitates hippocampus-dependent learning and memory through YTHDF1.