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Author: Stephan J Sanders

Rankings

  • All-time downloads: 34,703 (rank: 7,206 )
  • Categories:
    • bioinformatics: 837 (rank: 22,021 (tie) )
    • developmental biology: 419 (rank: 16,026 (tie) )
    • genetic and genomic medicine: 1,159 (rank: 4,703 (tie) )
    • genetics: 14,649 (rank: 1,149 )
    • genomics: 7,964 (rank: 3,209 (tie) )
    • neurology: 1,323 (rank: 1,535 (tie) )
    • neuroscience: 5,242 (rank: 4,880 )
    • psychiatry and clinical psychology: 242 (rank: 6,726 (tie) )

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Preprints

Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites

neuroscience 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: 1,154
    • In genetics: 23
  • Year to date:
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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 2,657 times
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    • Site-wide: 7,766
    • In genomics: 703
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Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

neurology more details view paper
  • Downloaded 2,198 times
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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

genomics more details view paper
  • Downloaded 1,814 times
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    • Site-wide: 13,661
    • In genomics: 1,240
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Frequency and complexity of de novo structural mutation in autism

genomics more details view paper
  • Downloaded 1,743 times
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    • Site-wide: 14,531
    • In genomics: 1,293
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The autism-associated gene Scn2a plays an essential role in synaptic stability and learning

neuroscience more details view paper
  • Downloaded 1,731 times
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    • Site-wide: 14,681
    • In neuroscience: 1,483
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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
  • Downloaded 1,599 times
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    • Site-wide: 16,528
    • In neuroscience: 1,669
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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 1,563 times
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    • Site-wide: 17,156
    • In genetics: 680
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A Chromatin Accessibility Atlas of the Developing Human Telencephalon

neuroscience more details view paper
  • Downloaded 1,434 times
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    • Site-wide: 19,576
    • In neuroscience: 2,139
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The female protective effect against autism spectrum disorder

genetic and genomic medicine more details view paper
  • Downloaded 1,413 times
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    • Site-wide: 20,014
    • In genetic and genomic medicine: 132
  • Year to date:
    • Site-wide: 8,156
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    • Site-wide: 4,188

Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

genomics more details view paper
  • Downloaded 1,263 times
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    • Site-wide: 23,824
    • In genomics: 2,249
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A Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of genetic variants in vivo

genetics more details view paper
  • Downloaded 1,037 times
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    • Site-wide: 32,122
    • In genetics: 1,403
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    • Site-wide: 27,303
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CRISPR activation rescues abnormalities in SCN2A haploinsufficiency-associated autism spectrum disorder

neuroscience more details view paper
  • Downloaded 942 times
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    • Site-wide: 37,097
    • In neuroscience: None
  • Year to date:
    • Site-wide: 1,838
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    • Site-wide: 1,501

Constructing and Optimizing 3D Atlases From 2D Data With Application to the Developing Mouse Brain

bioinformatics more details view paper
  • Downloaded 882 times
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    • Site-wide: 40,876
    • In bioinformatics: 4,209
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    • Site-wide: 71,358
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Coordinated Interaction: A model and test for globally signed epistasis in complex traits

genetics more details view paper
  • Downloaded 863 times
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    • Site-wide: 42,248
    • In genetics: 1,670
  • Year to date:
    • Site-wide: 126,280
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    • Site-wide: 134,329

De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families

genomics more details view paper
  • Downloaded 702 times
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    • Site-wide: 56,883
    • In genomics: 3,989
  • Year to date:
    • Site-wide: 125,110
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    • Site-wide: 102,169

Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse neocortex

genetics more details view paper
  • Downloaded 590 times
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    • Site-wide: 71,669
    • In genetics: 2,856
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    • Site-wide: 111,479
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Homeostatic Plasticity Commonly Fails at the Intersection of Autism-Gene Mutations and a Novel Class of Common Phenotypic Modifier

neuroscience more details view paper
  • Downloaded 581 times
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    • Site-wide: 73,030
    • In neuroscience: 9,756
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    • Site-wide: 158,961

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

developmental biology more details view paper
  • Downloaded 480 times
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    • Site-wide: 91,539
    • In developmental biology: 2,523
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Milestone Development in Genetic Conditions from SFARI Registries

psychiatry and clinical psychology more details view paper
  • Downloaded 334 times
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    • Site-wide: 128,097
    • In psychiatry and clinical psychology: 793
  • Year to date:
    • Site-wide: 40,849
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