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Author: Steven A McCarroll

Rankings

  • All-time downloads: 75,169 (rank: 2,337 )
  • Categories:
    • genetic and genomic medicine: 6,985 (rank: 157 )
    • genetics: 27,585 (rank: 260 )
    • genomics: 11,517 (rank: 1,847 )
    • infectious diseases: 1,187 (rank: 25,601 (tie) )
    • neuroscience: 27,895 (rank: 211 )

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Preprints

A Single-Cell Atlas of Cell Types, States, and Other Transcriptional Patterns from Nine Regions of the Adult Mouse Brain

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Evolution of cellular diversity in primary motor cortex of human, marmoset monkey, and mouse

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    • Site-wide: 1,859
    • In neuroscience: 90
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Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

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    • Site-wide: 2,317
    • In genetic and genomic medicine: 10
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A multimodal cell census and atlas of the mammalian primary motor cortex

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  • Downloaded 4,850 times
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    • In neuroscience: 157
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Regulatory variants explain much more heritability than coding variants across 11 common diseases

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    • Site-wide: 2,963
    • In genetics: 92
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Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

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  • Downloaded 3,180 times
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Innovations in Primate Interneuron Repertoire

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Mapping genetic effects on cellular phenotypes with "cell villages"

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  • Downloaded 2,775 times
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    • Site-wide: 5,877
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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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Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection

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Phenotypic landscape of schizophrenia-associated genes defines candidates and their shared functions

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    • Site-wide: 6,980
    • In genetics: 296
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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    • Site-wide: 7,497
    • In genetics: 320
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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

genetics more details view paper
  • Downloaded 2,098 times
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    • Site-wide: 8,855
    • In genetics: 373
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    • Site-wide: 69,735
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Insights about variation in meiosis from 31,228 human sperm genomes

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    • Site-wide: 9,390
    • In genomics: 937
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

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    • Site-wide: 10,622
    • In genetics: 459
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    • Site-wide: 77,816
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    • Site-wide: 101,977

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • Downloaded 1,745 times
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    • Site-wide: 11,628
    • In genomics: 1,167
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    • Site-wide: 146,806

Monogenic and polygenic inheritance become instruments for clonal selection

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  • Downloaded 1,555 times
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    • Site-wide: 13,720
    • In genetics: 608
  • Year to date:
    • Site-wide: 87,412
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    • Site-wide: 76,073

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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    • Site-wide: 14,637
    • In genomics: 1,451
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    • Site-wide: 116,220
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    • Site-wide: 108,665

Ascertaining cells' synaptic connections and RNA expression simultaneously with massively barcoded rabies virus libraries

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    • Site-wide: 15,347
    • In neuroscience: 1,730
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    • Site-wide: 2,659
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    • Site-wide: 256

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

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    • Site-wide: 15,361
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Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

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  • Downloaded 1,307 times
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    • Site-wide: 17,939
    • In genetic and genomic medicine: 82
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    • Site-wide: 13,649

Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses

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    • Site-wide: 17,961
    • In genetics: 811
  • Year to date:
    • Site-wide: 77,134
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    • Site-wide: 58,781

Absolute quantification and degradation evaluation of SARS-CoV-2 RNA by droplet digital PCR

infectious diseases more details view paper
  • Downloaded 1,187 times
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    • Site-wide: 20,715
    • In infectious diseases: 2,036
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    • Site-wide: 18,854
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    • Site-wide: 36,537

The Genetic Landscape of Diamond-Blackfan Anemia

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    • Site-wide: 21,279
    • In genetics: 951
  • Year to date:
    • Site-wide: 125,085
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Schizophrenia risk conferred by protein-coding de novo mutations

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  • Downloaded 893 times
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    • Site-wide: 31,472
    • In genetics: 1,400
  • Year to date:
    • Site-wide: 107,141
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    • Site-wide: 117,987

CUB and Sushi Multiple Domains 1 (CSMD1) opposes the complement cascade in neural tissues

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  • Downloaded 809 times
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    • Site-wide: 36,141
    • In neuroscience: 4,787
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    • Site-wide: 25,364
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    • Site-wide: 31,040

Higher genetic risk of schizophrenia is associated with lower cognitive performance in healthy individuals

genetics more details view paper
  • Downloaded 761 times
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    • Site-wide: 39,452
    • In genetics: 1,737
  • Year to date:
    • Site-wide: 134,868
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    • Site-wide: 133,630

The genomic landscape of clonal hematopoiesis in Japan

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  • Downloaded 666 times
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    • Site-wide: 47,243
    • In genetics: 2,069
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Single-nucleus sequencing reveals enriched expression of genetic risk factors sensitises Motor Neurons to degeneration in ALS

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    • Site-wide: 55,313
    • In neuroscience: 7,808
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    • Site-wide: 8,943

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

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  • Downloaded 571 times
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    • Site-wide: 57,600
    • In genomics: 4,245
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    • Site-wide: 65,062
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Contribution of rare copy number variants to bipolar disorder risk is limited to schizoaffective cases

genetics more details view paper
  • Downloaded 546 times
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    • Site-wide: 60,702
    • In genetics: 2,623
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    • Site-wide: 145,562
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Biological insights from the whole genome analysis of human embryonic stem cells

genomics more details view paper
  • Downloaded 535 times
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    • In genomics: 4,485
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    • Site-wide: 34,121
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Role for the Na+/K+ ATPase pump alpha 3 (ATP1A3) subunit in folding and lamination of the human neocortex

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  • Downloaded 394 times
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    • Site-wide: 86,084
    • In neuroscience: 12,753
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    • Site-wide: 105,298

Polygenic risk scores lack prognostic value for adults with severe mental illness

genetic and genomic medicine more details view paper
  • Downloaded 278 times
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    • Site-wide: 113,302
    • In genetic and genomic medicine: 596
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