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Author: Steven A McCarroll

Rankings

  • All-time downloads: 87,069 (rank: 2,577 )
  • Categories:
    • genetic and genomic medicine: 9,134 (rank: 150 )
    • genetics: 29,212 (rank: 265 )
    • genomics: 12,383 (rank: 1,769 )
    • infectious diseases: 1,292 (rank: 28,618 (tie) )
    • neuroscience: 30,827 (rank: 204 )

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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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Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

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    • Site-wide: 1,692
    • In genetic and genomic medicine: 10
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Evolution of cellular diversity in primary motor cortex of human, marmoset monkey, and mouse

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

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Regulatory variants explain much more heritability than coding variants across 11 common diseases

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Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

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    • Site-wide: 4,648
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Mapping genetic effects on cellular phenotypes with "cell villages"

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Innovations in Primate Interneuron Repertoire

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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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    • In genetics: 315
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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    • In genetics: 343
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Ascertaining cells' synaptic connections and RNA expression simultaneously with massively barcoded rabies virus libraries

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    • In neuroscience: 965
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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

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    • Site-wide: 10,248
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Insights about variation in meiosis from 31,228 human sperm genomes

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    • Site-wide: 10,999
    • In genomics: 982
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    • Site-wide: 96,399
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    • Site-wide: 93,284

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

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  • Downloaded 1,928 times
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    • Site-wide: 12,513
    • In genetics: 470
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    • Site-wide: 153,374
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Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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    • Site-wide: 13,647
    • In genomics: 1,240
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Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

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  • Downloaded 1,697 times
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    • Site-wide: 15,132
    • In genetic and genomic medicine: 88
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    • Site-wide: 28,613

Monogenic and polygenic inheritance become instruments for clonal selection

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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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    • In genomics: 1,529
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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: 17,613
    • In genetics: 708
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    • Site-wide: 107,224
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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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  • Downloaded 1,393 times
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    • In neuroscience: 2,921
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    • Site-wide: 7,118
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Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses

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  • Downloaded 1,386 times
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    • In genetics: 823
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Absolute quantification and degradation evaluation of SARS-CoV-2 RNA by droplet digital PCR

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    • Site-wide: 21,755
    • In infectious diseases: 2,271
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The Genetic Landscape of Diamond-Blackfan Anemia

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    • In genetics: 993
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    • Site-wide: 121,208
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CUB and Sushi Multiple Domains 1 (CSMD1) opposes the complement cascade in neural tissues

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Schizophrenia risk conferred by protein-coding de novo mutations

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  • Downloaded 956 times
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    • Site-wide: 36,362
    • In genetics: 1,439
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Higher genetic risk of schizophrenia is associated with lower cognitive performance in healthy individuals

genetics more details view paper
  • Downloaded 802 times
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    • In genetics: 1,819
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Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

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    • In genomics: 4,226
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The genomic landscape of clonal hematopoiesis in Japan

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    • In genetics: 2,152
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Biological insights from the whole genome analysis of human embryonic stem cells

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    • In genomics: 4,200
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Natural variation in gene expression and Zika virus susceptibility revealed by villages of neural progenitor cells

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    • In genomics: 5,591
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Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions

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Efficient generation of lower induced Motor Neurons by coupling Ngn2 expression with developmental cues

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    • In neuroscience: 18,077
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Contribution of rare copy number variants to bipolar disorder risk is limited to schizoaffective cases

genetics more details view paper
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    • In genetics: 2,882
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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 464 times
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Polygenic risk scores lack prognostic value for adults with severe mental illness

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  • Downloaded 398 times
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    • In genetic and genomic medicine: 708
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