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Author: Stephen W. Scherer

Rankings

  • All-time downloads: 22,100 (rank: 9,016 (tie) )
  • Categories:
    • bioinformatics: 1,484 (rank: 10,968 (tie) )
    • developmental biology: 829 (rank: 5,693 (tie) )
    • genetic and genomic medicine: 1,402 (rank: 2,608 )
    • genetics: 16,148 (rank: 901 )
    • genomics: 253 (rank: 46,947 (tie) )
    • neurology: 372 (rank: 3,582 (tie) )
    • neuroscience: 1,612 (rank: 15,954 (tie) )

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Preprints

Disruption of the autism-associated gene SCN2A alters synaptic development and neuronal signaling in patient iPSC-glutamatergic neurons

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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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    • In genetics: 23
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Length of uninterrupted CAG repeats, independent of polyglutamine size, results in increased somatic instability and hastened age of onset in Huntington disease

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

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Complete Disruption of Autism-Susceptibility Genes by Gene-Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

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Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation

developmental biology more details view paper
  • Downloaded 829 times
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    • In developmental biology: 616
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ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data

bioinformatics more details view paper
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    • In bioinformatics: 3,691
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Shared Genetic Risk between Eating Disorder- and Substance-Use-Related Phenotypes: Evidence from Genome-Wide Association Studies

genetics more details view paper
  • Downloaded 775 times
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Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors

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CNTN5-/+ or EHMT2-/+ iPSC-Derived Neurons from Individuals with Autism Develop Hyperactive Neuronal Networks

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  • Downloaded 610 times
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Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

genetics more details view paper
  • Downloaded 518 times
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    • In genetics: 2,593
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Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

genetic and genomic medicine more details view paper
  • Downloaded 478 times
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    • In genetic and genomic medicine: 259
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Matching drug transcriptional signatures to rare losses disrupting synaptic gene networks identifies known and novel candidate drugs for schizophrenia

bioinformatics more details view paper
  • Downloaded 475 times
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    • In bioinformatics: 6,307
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

neurology more details view paper
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    • Site-wide: 82,264
    • In neurology: 233
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VIKNGS: A C++ VARIANT INTEGRATION KIT FOR NEXT GENERATION SEQUENCING ASSOCIATION ANALYSIS

genetics more details view paper
  • Downloaded 277 times
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Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences

genomics more details view paper
  • Downloaded 253 times
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    • Site-wide: 108,790
    • In genomics: 6,324
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    • Site-wide: 118,386
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GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation

bioinformatics more details view paper
  • Downloaded 205 times
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    • Site-wide: 120,681
    • In bioinformatics: 9,831
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    • Site-wide: 75,174
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Clinical genetic risk variants inform a functional protein interaction network for tetralogy of Fallot

genetic and genomic medicine more details view paper
  • Downloaded 139 times
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    • Site-wide: 136,044
    • In genetic and genomic medicine: 743
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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

genetic and genomic medicine more details view paper
  • Downloaded 133 times
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    • In genetic and genomic medicine: 751
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