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Author: Joseph D. Buxbaum

Rankings

  • All-time downloads: 57,003 (rank: 2,895 )
  • Categories:
    • animal behavior and cognition: 867 (rank: 1,587 (tie) )
    • bioinformatics: 1,421 (rank: 11,505 (tie) )
    • developmental biology: 1,160 (rank: 3,653 (tie) )
    • genetics: 31,378 (rank: 200 )
    • genomics: 9,794 (rank: 2,146 )
    • neuroscience: 6,101 (rank: 3,212 (tie) )
    • pathology: 4,220 (rank: 305 (tie) )
    • psychiatry and clinical psychology: 2,062 (rank: 604 )

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Preprints

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

genetics more details view paper
  • Downloaded 10,415 times
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    • Site-wide: 921
    • In genetics: 23
  • Year to date:
    • Site-wide: 8,684
  • Since beginning of last month:
    • Site-wide: 71,671

Common risk variants identified in autism spectrum disorder

genetics more details view paper
  • Downloaded 8,485 times
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    • Site-wide: 1,187
    • In genetics: 30
  • Year to date:
    • Site-wide: 2,788
  • Since beginning of last month:
    • Site-wide: 22,433

New mutations, old statistical challenges

genetics more details view paper
  • Downloaded 7,183 times
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    • Site-wide: 1,453
    • In genetics: 44
  • Year to date:
    • Site-wide: 74,360
  • Since beginning of last month:
    • Site-wide: 121,450

EXCEPTIONALLY LOW LIKELIHOOD OF ALZHEIMER'S DEMENTIA IN APOE2 HOMOZYGOTES

pathology more details view paper
  • Downloaded 4,220 times
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    • Site-wide: 3,031
    • In pathology: 20
  • Year to date:
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    • Site-wide: 35,411

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 2,560 times
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    • Site-wide: 6,139
    • In genomics: 645
  • Year to date:
    • Site-wide: 104,740
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    • Site-wide: None

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

genomics more details view paper
  • Downloaded 2,006 times
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    • Site-wide: 8,781
    • In genomics: 901
  • Year to date:
    • Site-wide: 108,052
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    • Site-wide: None

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

genetics more details view paper
  • Downloaded 1,830 times
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    • Site-wide: 10,060
    • In genetics: 446
  • Year to date:
    • Site-wide: 70,187
  • Since beginning of last month:
    • Site-wide: 70,379

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

neuroscience more details view paper
  • Downloaded 1,538 times
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    • Site-wide: 12,919
    • In neuroscience: 1,398
  • Year to date:
    • Site-wide: 77,500
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    • Site-wide: None

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

genomics more details view paper
  • Downloaded 1,491 times
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    • Site-wide: 13,589
    • In genomics: 1,392
  • Year to date:
    • Site-wide: 104,727
  • Since beginning of last month:
    • Site-wide: 81,805

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

genetics more details view paper
  • Downloaded 1,489 times
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    • Site-wide: 13,604
    • In genetics: 620
  • Year to date:
    • Site-wide: 109,126
  • Since beginning of last month:
    • Site-wide: None

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,487 times
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    • Site-wide: 13,635
    • In genomics: 1,395
  • Year to date:
    • Site-wide: 97,822
  • Since beginning of last month:
    • Site-wide: 29,316

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

bioinformatics more details view paper
  • Downloaded 1,421 times
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    • Site-wide: 14,639
    • In bioinformatics: 1,696
  • Year to date:
    • Site-wide: 103,357
  • Since beginning of last month:
    • Site-wide: 71,391

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

genetics more details view paper
  • Downloaded 1,339 times
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    • Site-wide: 16,006
    • In genetics: 735
  • Year to date:
    • Site-wide: 5,518
  • Since beginning of last month:
    • Site-wide: 26,185

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 867 times
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    • Site-wide: 30,233
    • In animal behavior and cognition: 257
  • Year to date:
    • Site-wide: 56,838
  • Since beginning of last month:
    • Site-wide: 31,924

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

neuroscience more details view paper
  • Downloaded 808 times
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    • Site-wide: 33,331
    • In neuroscience: 4,417
  • Year to date:
    • Site-wide: 119,851
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    • Site-wide: None

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 785 times
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    • Site-wide: 34,739
    • In genomics: 2,941
  • Year to date:
    • Site-wide: 101,511
  • Since beginning of last month:
    • Site-wide: None

Temporal proteomic profiling of postnatal human cortical development

neuroscience more details view paper
  • Downloaded 727 times
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    • Site-wide: 38,666
    • In neuroscience: 5,260
  • Year to date:
    • Site-wide: 92,104
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    • Site-wide: None

MOSAIC EPIGENETIC DYSREGULATION OF ECTODERMAL CELLS IN AUTISM SPECTRUM DISORDER

genomics more details view paper
  • Downloaded 690 times
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    • Site-wide: 41,402
    • In genomics: 3,349
  • Year to date:
    • Site-wide: 147,642
  • Since beginning of last month:
    • Site-wide: 123,023

Dynamic landscape and genetic regulation of RNA editing in schizophrenia

neuroscience more details view paper
  • Downloaded 646 times
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    • Site-wide: 45,174
    • In neuroscience: 6,314
  • Year to date:
    • Site-wide: 120,200
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    • Site-wide: None

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

genetics more details view paper
  • Downloaded 637 times
  • Download rankings, all-time:
    • Site-wide: 45,968
    • In genetics: 2,050
  • Year to date:
    • Site-wide: 128,030
  • Since beginning of last month:
    • Site-wide: 55,240

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

neuroscience more details view paper
  • Downloaded 628 times
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    • Site-wide: 46,850
    • In neuroscience: 6,582
  • Year to date:
    • Site-wide: 101,183
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    • Site-wide: None

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 596 times
  • Download rankings, all-time:
    • Site-wide: 49,916
    • In psychiatry and clinical psychology: 179
  • Year to date:
    • Site-wide: 6,851
  • Since beginning of last month:
    • Site-wide: 2,569

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 559 times
  • Download rankings, all-time:
    • Site-wide: 54,184
    • In developmental biology: 1,267
  • Year to date:
    • Site-wide: 120,837
  • Since beginning of last month:
    • Site-wide: 53,453

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

neuroscience more details view paper
  • Downloaded 538 times
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    • Site-wide: 56,640
    • In neuroscience: 8,172
  • Year to date:
    • Site-wide: 8,011
  • Since beginning of last month:
    • Site-wide: 63,975

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 534 times
  • Download rankings, all-time:
    • Site-wide: 57,201
    • In neuroscience: 8,264
  • Year to date:
    • Site-wide: 37,937
  • Since beginning of last month:
    • Site-wide: 57,814

Identification of rare de novo epigenetic variations in congenital disorders

genomics more details view paper
  • Downloaded 526 times
  • Download rankings, all-time:
    • Site-wide: 58,338
    • In genomics: 4,305
  • Year to date:
    • Site-wide: 133,407
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    • Site-wide: None

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 482 times
  • Download rankings, all-time:
    • Site-wide: 64,240
    • In neuroscience: 9,369
  • Year to date:
    • Site-wide: 86,949
  • Since beginning of last month:
    • Site-wide: 106,989

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

developmental biology more details view paper
  • Downloaded 351 times
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    • Site-wide: 87,398
    • In developmental biology: 2,315
  • Year to date:
    • Site-wide: 67,643
  • Since beginning of last month:
    • Site-wide: 117,901

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

psychiatry and clinical psychology more details view paper
  • Downloaded 332 times
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    • Site-wide: 91,336
    • In psychiatry and clinical psychology: 360
  • Year to date:
    • Site-wide: 23,572
  • Since beginning of last month:
    • Site-wide: 14,178

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

psychiatry and clinical psychology more details view paper
  • Downloaded 284 times
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    • Site-wide: 102,389
    • In psychiatry and clinical psychology: 429
  • Year to date:
    • Site-wide: 91,061
  • Since beginning of last month:
    • Site-wide: 47,068

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

developmental biology more details view paper
  • Downloaded 250 times
  • Download rankings, all-time:
    • Site-wide: 110,582
    • In developmental biology: 2,976
  • Year to date:
    • Site-wide: 23,728
  • Since beginning of last month:
    • Site-wide: 89,935

Unperturbed Expression Bias of Imprinted Genes in Schizophrenia

genomics more details view paper
  • Downloaded 249 times
  • Download rankings, all-time:
    • Site-wide: 110,746
    • In genomics: 6,381
  • Year to date:
    • Site-wide: 148,067
  • Since beginning of last month:
    • Site-wide: None

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 239 times
  • Download rankings, all-time:
    • Site-wide: 113,253
    • In psychiatry and clinical psychology: 496
  • Year to date:
    • Site-wide: 25,146
  • Since beginning of last month:
    • Site-wide: 15,160

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 200 times
  • Download rankings, all-time:
    • Site-wide: 123,128
    • In neuroscience: 18,661
  • Year to date:
    • Site-wide: 148,887
  • Since beginning of last month:
    • Site-wide: 107,429

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 187 times
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    • Site-wide: 126,309
    • In psychiatry and clinical psychology: 603
  • Year to date:
    • Site-wide: 74,728
  • Since beginning of last month:
    • Site-wide: 34,092

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 128 times
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    • Site-wide: 139,623
    • In psychiatry and clinical psychology: 759
  • Year to date:
    • Site-wide: 109,943
  • Since beginning of last month:
    • Site-wide: 50,738

Maternal psychiatric diagnosis and comorbidities around pregnancy

psychiatry and clinical psychology more details view paper
  • Downloaded 123 times
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    • Site-wide: 140,505
    • In psychiatry and clinical psychology: 774
  • Year to date:
    • Site-wide: 54,431
  • Since beginning of last month:
    • Site-wide: 84,223

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

psychiatry and clinical psychology more details view paper
  • Downloaded 110 times
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    • Site-wide: 143,007
    • In psychiatry and clinical psychology: 817
  • Year to date:
    • Site-wide: 94,413
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OCD symptom severity and comorbid psychiatric diagnoses in a Swedish genetic epidemiological obsessive-compulsive disorder cohort

psychiatry and clinical psychology more details view paper
  • Downloaded 63 times
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    • Site-wide: 149,987
    • In psychiatry and clinical psychology: 930
  • Year to date:
    • Site-wide: 95,926
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    • Site-wide: 8,497

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