Author: Steven A McCarroll

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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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  • Site-wide: 686
  • In neuroscience: 30
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Regulatory variants explain much more heritability than coding variants across 11 common diseases

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  • Site-wide: 2,017
  • In genetics: 82
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Evolution of cellular diversity in primary motor cortex of human, marmoset monkey, and mouse

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  • In neuroscience: 187
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A multimodal cell census and atlas of the mammalian primary motor cortex

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  • Site-wide: 3,678
  • In neuroscience: 316
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  • Site-wide: 951
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  • Site-wide: 1,000

Innovations in Primate Interneuron Repertoire

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  • Site-wide: 4,035
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  • Site-wide: 11,420
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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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  • Site-wide: 4,647
  • In genomics: 565
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Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection

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  • Site-wide: 4,662
  • In genomics: 568
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Phenotypic landscape of schizophrenia-associated genes defines candidates and their shared functions

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  • Site-wide: 4,915
  • In genetics: 240
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  • Site-wide: 46,524
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  • Site-wide: 41,857

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

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  • Site-wide: 4,956
  • In genetic and genomic medicine: 12
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  • Site-wide: 951

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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  • Site-wide: 5,292
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Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

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  • In genetics: 335
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Insights about variation in meiosis from 31,228 human sperm genomes

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  • Site-wide: 7,029
  • In genomics: 803
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  • Site-wide: 67,327

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

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  • Site-wide: 7,974
  • In genetics: 404
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  • Site-wide: 102,100

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • Site-wide: 8,591
  • In genomics: 1,001
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  • Site-wide: 66,143

Mapping genetic effects on cellular phenotypes with "cell villages"

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  • Site-wide: 8,885
  • In genetics: 460
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Monogenic and polygenic inheritance become instruments for clonal selection

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  • Site-wide: 10,305
  • In genetics: 527
• Year to date:
  • Site-wide: 59,889
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  • Site-wide: 51,389

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 10,552
  • In genomics: 1,209
• Year to date:
  • Site-wide: 37,305
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  • Site-wide: 78,544

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: 12,069
  • In genetics: 627
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Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses

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  • Site-wide: 14,184
  • In genetics: 739
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  • Site-wide: 63,461

The Genetic Landscape of Diamond-Blackfan Anemia

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  • Site-wide: 15,488
  • In genetics: 811
• Year to date:
  • Site-wide: 24,476
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  • Site-wide: 57,702

Schizophrenia risk conferred by protein-coding de novo mutations

• Downloaded 809 times
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  • Site-wide: 24,591
  • In genetics: 1,254
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  • Site-wide: 84,096

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

• Downloaded 789 times
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  • Site-wide: 25,452
  • In infectious diseases: 1,631
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  • Site-wide: 38,075

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

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  • Site-wide: 29,383
  • In genetics: 1,493
• Year to date:
  • Site-wide: 50,187
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  • Site-wide: 83,448

The genomic landscape of clonal hematopoiesis in Japan

• Downloaded 593 times
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  • Site-wide: 37,405
  • In genetics: 1,866
• Year to date:
  • Site-wide: 25,857
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  • Site-wide: 41,400

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

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  • Site-wide: 43,380
  • In genetic and genomic medicine: 110
• Year to date:
  • Site-wide: 3,380
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  • Site-wide: 1,614

Contribution of rare copy number variants to bipolar disorder risk is limited to schizoaffective cases

• Downloaded 508 times
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  • Site-wide: 45,171
  • In genetics: 2,213
• Year to date:
  • Site-wide: 39,591
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  • Site-wide: 106,685

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

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  • Site-wide: 48,067
  • In neuroscience: 7,117
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  • Site-wide: 36,480

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

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  • Site-wide: 53,813
  • In genomics: 4,142
• Year to date:
  • Site-wide: 33,442
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  • Site-wide: 30,542

Biological insights from the whole genome analysis of human embryonic stem cells

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  • Site-wide: 74,497
  • In genomics: 5,051
• Year to date:
  • Site-wide: 7,497
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  • Site-wide: 11,114

Role for the Na+/K+ ATPase pump alpha 3 (ATP1A3) subunit in folding and lamination of the human neocortex

• Downloaded 242 times
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  • Site-wide: 86,876
  • In neuroscience: 13,580
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  • Site-wide: 56,646