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Author: Joseph D Buxbaum

Rankings

  • All-time downloads: 55,358 (rank: 2,715 )
  • Categories:
    • animal behavior and cognition: 840 (rank: 1,534 (tie) )
    • bioinformatics: 1,403 (rank: 11,045 (tie) )
    • developmental biology: 881 (rank: 4,989 (tie) )
    • genetics: 30,866 (rank: 201 )
    • genomics: 9,719 (rank: 2,097 )
    • neuroscience: 5,899 (rank: 3,120 )
    • pathology: 4,171 (rank: 300 (tie) )
    • psychiatry and clinical psychology: 1,579 (rank: 675 )

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Preprints

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

developmental biology more details view paper

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

genetics more details view paper
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    • Site-wide: 843
    • In genetics: 23
  • Year to date:
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Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 8,302 times
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    • Site-wide: 1,112
    • In genetics: 31
  • Year to date:
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New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,156 times
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    • Site-wide: 1,333
    • In genetics: 43
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EXCEPTIONALLY LOW LIKELIHOOD OF ALZHEIMER'S DEMENTIA IN APOE2 HOMOZYGOTES

pathology more details view paper
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Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families

genomics more details view paper
  • Downloaded 2,547 times
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    • Site-wide: 5,690
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Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

genomics more details view paper
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    • Site-wide: 8,126
    • In genomics: 865
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

genetics more details view paper
  • Downloaded 1,817 times
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    • Site-wide: 9,376
    • In genetics: 426
  • Year to date:
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Whole-genome and RNA sequencing reveal variation and transcriptomic coordination in the developing human prefrontal cortex

neuroscience more details view paper
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    • Site-wide: 12,165
    • In neuroscience: 1,339
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Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

genomics more details view paper
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    • Site-wide: 12,609
    • In genomics: 1,331
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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

genetics more details view paper
  • Downloaded 1,477 times
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    • Site-wide: 12,705
    • In genetics: 600
  • Year to date:
    • Site-wide: 95,182
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
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    • In genomics: 1,351
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FUN-LDA: A latent Dirichlet allocation model for predicting tissue-specific functional effects of noncoding variation

bioinformatics more details view paper
  • Downloaded 1,403 times
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    • Site-wide: 13,777
    • In bioinformatics: 1,623
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Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders

genetics more details view paper
  • Downloaded 1,179 times
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    • Site-wide: 17,836
    • In genetics: 850
  • Year to date:
    • Site-wide: 5,183
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Behavioral phenotyping of an improved mouse model of Phelan-McDermid Syndrome with a complete deletion of the Shank3 gene

animal behavior and cognition more details view paper
  • Downloaded 840 times
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    • Site-wide: 29,200
    • In animal behavior and cognition: 247
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    • Site-wide: 49,610
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PTSD Blood Transcriptome Mega-Analysis: Shared Inflammatory Pathways Across Biological Sex And Modes Of Trauma

neuroscience more details view paper
  • Downloaded 791 times
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    • Site-wide: 31,716
    • In neuroscience: 4,212
  • Year to date:
    • Site-wide: 118,462
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    • Site-wide: 139,391

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

genomics more details view paper
  • Downloaded 773 times
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    • Site-wide: 32,745
    • In genomics: 2,864
  • Year to date:
    • Site-wide: 85,336
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    • Site-wide: 110,066

Temporal proteomic profiling of postnatal human cortical development

neuroscience more details view paper
  • Downloaded 720 times
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    • Site-wide: 36,087
    • In neuroscience: 4,934
  • Year to date:
    • Site-wide: 71,254
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MOSAIC EPIGENETIC DYSREGULATION OF ECTODERMAL CELLS IN AUTISM SPECTRUM DISORDER

genomics more details view paper
  • Downloaded 688 times
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    • Site-wide: 38,387
    • In genomics: 3,210
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    • Site-wide: 130,319
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    • Site-wide: 102,056

Dynamic landscape and genetic regulation of RNA editing in schizophrenia

neuroscience more details view paper
  • Downloaded 637 times
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    • Site-wide: 42,417
    • In neuroscience: 5,982
  • Year to date:
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Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

genetics more details view paper
  • Downloaded 624 times
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    • Site-wide: 43,556
    • In genetics: 2,017
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    • Site-wide: 122,331
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Disruption of the KH1 domain of Fmr1 leads to transcriptional alterations and attentional deficits in rats

neuroscience more details view paper
  • Downloaded 598 times
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    • Site-wide: 45,876
    • In neuroscience: 6,552
  • Year to date:
    • Site-wide: 114,353
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    • Site-wide: 97,851

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

developmental biology more details view paper
  • Downloaded 547 times
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    • Site-wide: 51,183
    • In developmental biology: 1,201
  • Year to date:
    • Site-wide: 111,392
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    • Site-wide: 82,384

Identification of rare de novo epigenetic variations in congenital disorders

genomics more details view paper
  • Downloaded 519 times
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    • Site-wide: 54,505
    • In genomics: 4,137
  • Year to date:
    • Site-wide: 118,265
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    • Site-wide: 126,736

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

neuroscience more details view paper
  • Downloaded 499 times
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    • Site-wide: 57,107
    • In neuroscience: 8,397
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    • Site-wide: 32,620
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    • Site-wide: 39,739

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

neuroscience more details view paper
  • Downloaded 476 times
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    • Site-wide: 60,010
    • In neuroscience: 8,831
  • Year to date:
    • Site-wide: 6,128
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    • Site-wide: 20,426

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

neuroscience more details view paper
  • Downloaded 461 times
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    • Site-wide: 62,214
    • In neuroscience: 9,216
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    • Site-wide: 79,048
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    • Site-wide: 92,525

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

psychiatry and clinical psychology more details view paper
  • Downloaded 413 times
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    • Site-wide: 69,642
    • In psychiatry and clinical psychology: 235
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    • Site-wide: 7,559
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    • Site-wide: 931

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

developmental biology more details view paper
  • Downloaded 334 times
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    • Site-wide: 84,258
    • In developmental biology: 2,217
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    • Site-wide: 55,018
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    • Site-wide: 35,670

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

psychiatry and clinical psychology more details view paper
  • Downloaded 262 times
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    • Site-wide: 99,973
    • In psychiatry and clinical psychology: 393
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Unperturbed Expression Bias of Imprinted Genes in Schizophrenia

genomics more details view paper
  • Downloaded 244 times
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    • Site-wide: 104,051
    • In genomics: 6,121
  • Year to date:
    • Site-wide: 135,027
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How rare and common risk variation jointly affect liability for autism spectrum disorder

psychiatry and clinical psychology more details view paper
  • Downloaded 238 times
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    • Site-wide: 105,432
    • In psychiatry and clinical psychology: 433
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    • Site-wide: 27,489
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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.

neuroscience more details view paper
  • Downloaded 199 times
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    • Site-wide: 114,797
    • In neuroscience: 17,571
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The genetic architecture of obsessive-compulsive disorder: alleles across the frequency spectrum contribute liability to OCD

psychiatry and clinical psychology more details view paper
  • Downloaded 192 times
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    • Site-wide: 116,429
    • In psychiatry and clinical psychology: 508
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    • Site-wide: 21,651
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Systematic Review and Meta-Analysis Identifies Significant Relationships Between Anxiety Disorders and Daytime Lower Urinary Tract Symptoms

psychiatry and clinical psychology more details view paper
  • Downloaded 164 times
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Systematic Review and Meta-Analysis: Relationships Between Attention-Deficit/Hyperactivity Disorder and Daytime Urinary Symptoms in Children

psychiatry and clinical psychology more details view paper
  • Downloaded 117 times
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    • Site-wide: 132,533
    • In psychiatry and clinical psychology: 681
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    • Site-wide: 77,969

Maternal psychiatric diagnosis and comorbidities around pregnancy

psychiatry and clinical psychology more details view paper
  • Downloaded 106 times
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    • Site-wide: 134,586
    • In psychiatry and clinical psychology: 716
  • Year to date:
    • Site-wide: 42,195
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Genetic maternal effects contributes to the risk of Tourette's disorder

psychiatry and clinical psychology more details view paper
  • Downloaded 87 times
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    • Site-wide: 137,816
    • In psychiatry and clinical psychology: 757
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