Author: Stephan Sanders

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Preprints

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

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  • Site-wide: 910
  • In genetics: 23
• Year to date:
  • Site-wide: 8,382
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  • Site-wide: 50,509

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

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  • Site-wide: 6,085
  • In genomics: 637
• Year to date:
  • Site-wide: 101,597
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  • Site-wide: None

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • Site-wide: 10,933
  • In genomics: 1,124
• Year to date:
  • Site-wide: 85,637
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Frequency and complexity of de novo structural mutation in autism

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  • Site-wide: 11,278
  • In genomics: 1,160
• Year to date:
  • Site-wide: 110,559
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  • Site-wide: None

The autism-associated gene Scn2a plays an essential role in synaptic stability and learning

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  • Site-wide: 11,792
  • In neuroscience: 1,256
• Year to date:
  • Site-wide: 67,111
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  • Site-wide: 17,060

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

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  • Site-wide: 12,824
  • In neuroscience: 1,396
• Year to date:
  • Site-wide: 75,329
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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

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  • Site-wide: 13,509
  • In genetics: 618
• Year to date:
  • Site-wide: 106,553
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A Chromatin Accessibility Atlas of the Developing Human Telencephalon

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  • Site-wide: 17,971
  • In neuroscience: 2,170
• Year to date:
  • Site-wide: 19,105
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  • Site-wide: 62,421

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

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  • Site-wide: 28,575
  • In genomics: 2,556
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  • Site-wide: 19,711
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  • Site-wide: 41,786

The female protective effect against autism spectrum disorder

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  • Site-wide: 33,769
  • In genetic and genomic medicine: 133
• Year to date:
  • Site-wide: 4,320
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  • Site-wide: 25,048

Coordinated Interaction: A model and test for globally signed epistasis in complex traits

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  • Site-wide: 35,740
  • In genetics: 1,623
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  • Site-wide: 58,526
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  • Site-wide: 52,765

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

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  • Site-wide: 38,712
  • In bioinformatics: 4,189
• Year to date:
  • Site-wide: 44,954
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  • Site-wide: 53,145

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

• Downloaded 625 times
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  • Site-wide: 46,675
  • In genomics: 3,674
• Year to date:
  • Site-wide: 27,859
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  • Site-wide: 73,006

A Cre-dependent massively parallel reporter assay allows for cell-type specific assessment of the functional effects of genetic variants in vivo

• Downloaded 564 times
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  • Site-wide: 53,223
  • In genetics: 2,347
• Year to date:
  • Site-wide: 7,173
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  • Site-wide: 3,271

Homeostatic Plasticity Commonly Fails at the Intersection of Autism-Gene Mutations and a Novel Class of Common Phenotypic Modifier

• Downloaded 508 times
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  • Site-wide: 60,105
  • In neuroscience: 8,795
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  • Site-wide: 92,488
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  • Site-wide: None

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

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  • Site-wide: 68,214
  • In genetics: 3,010
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  • Site-wide: 22,627
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  • Site-wide: 74,086

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

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  • Site-wide: 109,807
  • In developmental biology: 2,943
• Year to date:
  • Site-wide: 22,902
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  • Site-wide: 79,836

Milestone Development in Genetic Conditions from SFARI Registries

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  • Site-wide: 137,304
  • In psychiatry and clinical psychology: 729
• Year to date:
  • Site-wide: 47,871
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  • Site-wide: 78,480