Research: Funded Publications
Explore publications and preprints from SFARI-funded investigators and researchers using SFARI-supported data and resources.
Results
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Bias in measurement of autism symptoms by spoken language level and non-verbal mental age in minimally verbal children with neurodevelopmental disorders.
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Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.
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Deep embedded clustering by relevant scales and genome-wide association study in autism.
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Psychometric validation of a brief self-report measure of misophonia symptoms and functional impairment: The duke-vanderbilt misophonia screening questionnaire.
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Psychometric validation of a brief self-report measure of misophonia symptoms and functional impairment: The duke-vanderbilt misophonia screening questionnaire.
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Synaptic hyperexcitability of cytomegalic pyramidal neurons contributes to epileptogenesis in tuberous sclerosis complex.
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Polygenic architecture of rare coding variation across 400,000 exomes.
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Epilepsy-related CDKL5 deficiency slows synaptic vesicle endocytosis in central nerve terminals.
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Imbalance of flight-freeze responses and their cellular correlates in the Nlgn3−/y rat model of autism.
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Abnormal whisker-dependent behaviors and altered cortico-hippocampal connectivity in Shank3b-/- mice.
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Human iPSC-derived neuron of 16p11.2 deletion reveals haplotype-specific expression of MAPK3 and its contribution to variable NDD phenotypes.
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Copy number variation at the 22q11.2 locus influences prevalence, severity, and psychiatric impact of sleep disturbance.
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Heterogeneity of resting-state EEG features in juvenile myoclonic epilepsy and controls.
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The longitudinal bidirectional relationship between autistic traits and brain morphology from childhood to adolescence: A population-based cohort study.
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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
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Telehealth diagnosis of autism spectrum disorder through clinical cases.
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Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism.
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Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.
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Age-related central gain with degraded neural synchrony in the auditory brainstem of mice and humans.
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Controlling for spurious nonlinear dependence in connectivity analyses.
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Subgrouping school-aged children with autism spectrum disorder based on co-occurring psychopathology.
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Co-occurring attention-deficit/hyperactivity disorder and anxiety disorders differentially affect males and females with autism.
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The early start Denver model intervention and Mu rhythm attenuation in autism spectrum disorders.
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Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in congenital heart disease.
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Consistency of parent-report SLC6A1 data in Simons Searchlight with provider-based publications.
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Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses.
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Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data.
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Fate mapping of neural stem cell niches reveals distinct origins of human cortical astrocytes.
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Biophysical Kv3 channel alterations dampen excitability of cortical PV interneurons and contribute to network hyperexcitability in early Alzheimer's.
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Opposite expression patterns of Spry3 and p75NTR in cerebellar vermis suggest a male-specific mechanism of autism pathogenesis.
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Disrupted computations of social control in individuals with obsessive-compulsive and misophonia symptoms.
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SFARI genes and where to find them; modelling autism spectrum disorder specific gene expression dysregulation with RNA-seq data.
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Deficiency of autism-related Scn2a gene in mice disrupts sleep patterns and circadian rhythms.
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Abnormal sensory perception masks behavioral performance of Grin1 knockdown mice.
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Using child-friendly movie stimuli to study the development of face, place, and object regions from age 3 to 12 years.
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Video-evoked fMRI BOLD responses are highly consistent across different data acquisition sites.
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Clinical autism subscales have common genetic liabilities that are heritable, pleiotropic, and generalizable to the general population.
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Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.
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Excess ribosomal protein production unbalances translation in a model of fragile X syndrome.
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Association between resting-state functional brain connectivity and gene expression is altered in autism spectrum disorder.
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The female protective effect against autism spectrum disorder.
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Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders.
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Peripheral auditory nerve impairment in a mouse model of syndromic autism.
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Contrastive machine learning reveals the structure of neuroanatomical variation within autism.
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Ankyrin-B is lipid-modified by S-palmitoylation to promote dendritic membrane scaffolding of voltage-gated sodium channel Nav1.2 in neurons.
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DeepND: Deep multitask learning of gene risk for comorbid neurodevelopmental disorders.
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Spatiotemporal dynamics of noradrenaline during learned behaviour.
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Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites.