Author: Stephan J Sanders

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Preprints

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

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

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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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Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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Frequency and complexity of de novo structural mutation in autism

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

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

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

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A Chromatin Accessibility Atlas of the Developing Human Telencephalon

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The female protective effect against autism spectrum disorder

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

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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

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CRISPR activation rescues abnormalities in SCN2A haploinsufficiency-associated autism spectrum disorder

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

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

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

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

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

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

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Milestone Development in Genetic Conditions from SFARI Registries

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