Author: Joseph D Buxbaum

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Preprints

Expansion of RNA sequence diversity and RNA editing rates throughout human cortical development

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Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

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Common risk variants identified in autism spectrum disorder

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New mutations, old statistical challenges

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EXCEPTIONALLY LOW LIKELIHOOD OF ALZHEIMER'S DEMENTIA IN APOE2 HOMOZYGOTES

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Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

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Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex

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Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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FUN-LDA: A latent Dirichlet allocation model for predicting tissue-specific functional effects of noncoding variation

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Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders

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Behavioral phenotyping of an improved mouse model of Phelan-McDermid Syndrome with a complete deletion of the Shank3 gene

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PTSD Blood Transcriptome Mega-Analysis: Shared Inflammatory Pathways Across Biological Sex And Modes Of Trauma

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Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy genes

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Temporal proteomic profiling of postnatal human cortical development

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MOSAIC EPIGENETIC DYSREGULATION OF ECTODERMAL CELLS IN AUTISM SPECTRUM DISORDER

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Dynamic landscape and genetic regulation of RNA editing in schizophrenia

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Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

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Disruption of the KH1 domain of Fmr1 leads to transcriptional alterations and attentional deficits in rats

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Gene expression in cord blood links genetic risk for neurodevelopmental disorders with maternal psychological distress and adverse childhood outcomes

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Identification of rare de novo epigenetic variations in congenital disorders

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Effects of gene by microbiome interactions on behavioral and neurobiological phenotypes in a mouse model for autism spectrum disorder

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Developmental and behavioral phenotypes in a new mouse model of DDX3X syndrome

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Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan McDermid syndrome and autism

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Identification of shared and differentiating genetic risk for autism spectrum disorder, attention deficit hyperactivity disorder and case subgroups.

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Episignatures stratifying ADNP syndrome show modest correlation with phenotype

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Maternal health around pregnancy and autism risk: a population-based study.

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Unperturbed Expression Bias of Imprinted Genes in Schizophrenia

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How rare and common risk variation jointly affect liability for autism spectrum disorder

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Reduced axonal caliber and white matter changes in a rat model of Fragile X syndrome with a deletion of a K Homology domain of Fmr1.

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The genetic architecture of obsessive-compulsive disorder: alleles across the frequency spectrum contribute liability to OCD

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Systematic Review and Meta-Analysis Identifies Significant Relationships Between Anxiety Disorders and Daytime Lower Urinary Tract Symptoms

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Systematic Review and Meta-Analysis: Relationships Between Attention-Deficit/Hyperactivity Disorder and Daytime Urinary Symptoms in Children

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Maternal psychiatric diagnosis and comorbidities around pregnancy

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Genetic maternal effects contributes to the risk of Tourette's disorder

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