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Author: Steven A McCarroll

Rankings

  • All-time downloads: 68,281 (rank: 2,235 )
  • Categories:
    • genetic and genomic medicine: 5,795 (rank: 154 )
    • genetics: 26,166 (rank: 275 )
    • genomics: 11,232 (rank: 1,782 )
    • infectious diseases: 1,057 (rank: 23,981 (tie) )
    • neuroscience: 24,031 (rank: 242 )

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Preprints

Single-nucleus sequencing reveals enriched expression of genetic risk factors sensitises Motor Neurons to degeneration in ALS

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

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    • Site-wide: 885
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Evolution of cellular diversity in primary motor cortex of human, marmoset monkey, and mouse

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  • Downloaded 5,512 times
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    • Site-wide: 2,005
    • In neuroscience: 107
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    • Site-wide: 1,373
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Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

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    • In genetic and genomic medicine: 11
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Regulatory variants explain much more heritability than coding variants across 11 common diseases

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A multimodal cell census and atlas of the mammalian primary motor cortex

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  • Downloaded 4,194 times
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Innovations in Primate Interneuron Repertoire

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    • Site-wide: 5,042
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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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  • Downloaded 2,552 times
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Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection

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Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

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

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    • Site-wide: 6,348
    • In genetics: 280
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Mapping genetic effects on cellular phenotypes with "cell villages"

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    • Site-wide: 6,447
    • In genetics: 288
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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    • Site-wide: 6,834
    • In genetics: 306
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    • Site-wide: 103,386
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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

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  • Downloaded 2,068 times
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    • Site-wide: 8,094
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    • Site-wide: 54,990
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Insights about variation in meiosis from 31,228 human sperm genomes

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    • Site-wide: 8,716
    • In genomics: 906
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    • Site-wide: 68,015
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    • Site-wide: 94,649

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

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  • Downloaded 1,823 times
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    • Site-wide: 9,781
    • In genetics: 441
  • Year to date:
    • Site-wide: 64,228
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    • Site-wide: 105,036

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • Downloaded 1,721 times
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    • Site-wide: 10,637
    • In genomics: 1,107
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    • Site-wide: 77,666
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    • Site-wide: 115,454

Monogenic and polygenic inheritance become instruments for clonal selection

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  • Downloaded 1,519 times
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    • Site-wide: 12,731
    • In genetics: 587
  • Year to date:
    • Site-wide: 78,871
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Downloaded 1,476 times
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    • Site-wide: 13,318
    • In genomics: 1,379
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    • Site-wide: 96,509
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    • Site-wide: 106,026

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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  • Downloaded 1,423 times
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    • Site-wide: 14,107
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    • Site-wide: 56,553
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Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses

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  • Downloaded 1,264 times
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    • Site-wide: 16,854
    • In genetics: 800
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    • Site-wide: 70,761
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The Genetic Landscape of Diamond-Blackfan Anemia

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    • Site-wide: 19,577
    • In genetics: 921
  • Year to date:
    • Site-wide: 111,882
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Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

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  • Downloaded 1,062 times
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    • Site-wide: 21,786
    • In genetic and genomic medicine: 83
  • Year to date:
    • Site-wide: 6,132
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    • Site-wide: 8,569

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

infectious diseases more details view paper
  • Downloaded 1,057 times
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    • Site-wide: 21,958
    • In infectious diseases: 1,941
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    • Site-wide: 19,469
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    • Site-wide: 52,679

Schizophrenia risk conferred by protein-coding de novo mutations

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  • Downloaded 870 times
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    • Site-wide: 29,074
    • In genetics: 1,348
  • Year to date:
    • Site-wide: 89,236
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    • Site-wide: 79,495

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

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  • Downloaded 735 times
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    • Site-wide: 36,704
    • In genetics: 1,687
  • Year to date:
    • Site-wide: 132,230
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    • Site-wide: 126,233

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

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  • Downloaded 724 times
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    • Site-wide: 37,499
    • In neuroscience: 5,121
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    • Site-wide: 22,608
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The genomic landscape of clonal hematopoiesis in Japan

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  • Downloaded 641 times
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    • Site-wide: 44,005
    • In genetics: 1,994
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Contribution of rare copy number variants to bipolar disorder risk is limited to schizoaffective cases

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  • Downloaded 532 times
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    • Site-wide: 55,381
    • In genetics: 2,480
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Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

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  • Downloaded 516 times
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    • Site-wide: 57,416
    • In genomics: 4,276
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    • Site-wide: 63,773
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Biological insights from the whole genome analysis of human embryonic stem cells

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  • Downloaded 455 times
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    • In genomics: 4,676
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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 363 times
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    • Site-wide: 81,814
    • In neuroscience: 12,322
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    • Site-wide: 52,439
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Polygenic risk scores lack prognostic value for adults with severe mental illness

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  • Downloaded 221 times
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    • Site-wide: 114,043
    • In genetic and genomic medicine: 575
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