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Author: Stephen W. Scherer

Rankings

  • All-time downloads: 21,605 (rank: 8,641 )
  • Categories:
    • bioinformatics: 1,450 (rank: 10,755 (tie) )
    • developmental biology: 814 (rank: 5,532 (tie) )
    • genetic and genomic medicine: 1,248 (rank: 2,604 (tie) )
    • genetics: 15,976 (rank: 895 )
    • genomics: 240 (rank: 46,029 (tie) )
    • neurology: 294 (rank: 3,768 (tie) )
    • neuroscience: 1,583 (rank: 15,299 (tie) )

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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
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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

genetics more details view paper
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    • Site-wide: 6,703
    • In genetics: 310
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

genetics more details view paper
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    • Site-wide: 9,473
    • In genetics: 427
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Complete Disruption of Autism-Susceptibility Genes by Gene-Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

neuroscience more details view paper
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Control iPSC lines with clinically annotated genetic variants for versatile multi-lineage differentiation

developmental biology more details view paper
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    • Site-wide: 30,743
    • In developmental biology: 607
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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
  • Downloaded 789 times
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    • Site-wide: 32,122
    • In bioinformatics: 3,591
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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 763 times
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CNTN5-/+ or EHMT2-/+ iPSC-Derived Neurons from Individuals with Autism Develop Hyperactive Neuronal Networks

neuroscience more details view paper
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Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors

genetic and genomic medicine more details view paper
  • Downloaded 594 times
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    • Site-wide: 46,780
    • In genetic and genomic medicine: 173
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Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

genetics more details view paper
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    • Site-wide: 55,371
    • In genetics: 2,505
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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 464 times
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    • Site-wide: 62,308
    • In bioinformatics: 6,119
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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 434 times
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    • Site-wide: 66,843
    • In genetic and genomic medicine: 255
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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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    • In neurology: 267
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VIKNGS: A C++ VARIANT INTEGRATION KIT FOR NEXT GENERATION SEQUENCING ASSOCIATION ANALYSIS

genetics more details view paper
  • Downloaded 274 times
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    • Site-wide: 98,021
    • In genetics: 4,283
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    • Site-wide: 102,012
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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 240 times
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    • Site-wide: 105,809
    • In genomics: 6,189
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    • Site-wide: 118,303
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    • Site-wide: 112,485

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation

bioinformatics more details view paper
  • Downloaded 197 times
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    • Site-wide: 116,004
    • In bioinformatics: 9,525
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    • Site-wide: 61,458
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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 111 times
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    • Site-wide: 134,606
    • In genetic and genomic medicine: 708
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    • Site-wide: 42,654
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A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

genetic and genomic medicine more details view paper
  • Downloaded 109 times
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    • Site-wide: 134,989
    • In genetic and genomic medicine: 711
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