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: 784
  • In neuroscience: 32
• Year to date:
  • Site-wide: 11,719
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  • Site-wide: 19,640

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

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  • Site-wide: 2,256
  • In neuroscience: 142
• Year to date:
  • Site-wide: 1,758
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  • Site-wide: 2,191

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

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  • Site-wide: 2,320
  • In genetics: 87
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  • Site-wide: 86,717
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A multimodal cell census and atlas of the mammalian primary motor cortex

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  • Site-wide: 3,240
  • In neuroscience: 254
• Year to date:
  • Site-wide: 1,604
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  • Site-wide: 2,212

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

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  • Site-wide: 3,493
  • In genetic and genomic medicine: 11
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  • Site-wide: 845

Innovations in Primate Interneuron Repertoire

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  • Site-wide: 4,566
  • In neuroscience: 414
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  • Site-wide: 35,001
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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: 5,217
  • In genomics: 587
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  • Site-wide: 73,576
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  • Site-wide: 103,046

Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection

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  • Site-wide: 5,297
  • In genomics: 604
• Year to date:
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  • Site-wide: 93,333

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

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  • Site-wide: 5,617
  • In genetics: 262
• Year to date:
  • Site-wide: 80,429
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  • Site-wide: 74,680

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

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  • Site-wide: 6,051
  • In genetics: 285
• Year to date:
  • Site-wide: 111,432
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  • Site-wide: 97,603

Mapping genetic effects on cellular phenotypes with "cell villages"

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  • Site-wide: 7,265
  • In genetics: 345
• Year to date:
  • Site-wide: 4,849
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  • Site-wide: 4,546

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

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  • Site-wide: 7,297
  • In genetics: 348
• Year to date:
  • Site-wide: 46,316
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  • Site-wide: 65,540

Insights about variation in meiosis from 31,228 human sperm genomes

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  • Site-wide: 7,795
  • In genomics: 850
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  • Site-wide: 52,764
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  • Site-wide: 93,123

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

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  • Site-wide: 8,370
  • In genetics: 394
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  • Site-wide: 498
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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: 8,795
  • In genetics: 417
• Year to date:
  • Site-wide: 48,615
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  • Site-wide: 64,952

Whole Genome Sequencing in Psychiatric Disorders: the WGSPD Consortium

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  • Site-wide: 9,535
  • In genomics: 1,045
• Year to date:
  • Site-wide: 56,068
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  • Site-wide: 54,000

Monogenic and polygenic inheritance become instruments for clonal selection

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  • Site-wide: 11,656
  • In genetics: 568
• Year to date:
  • Site-wide: 98,725
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  • Site-wide: 72,742

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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  • Site-wide: 11,864
  • In genomics: 1,294
• Year to date:
  • Site-wide: 74,173
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  • Site-wide: 80,381

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: 13,260
  • In genetics: 651
• Year to date:
  • Site-wide: 68,655
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  • Site-wide: 91,963

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

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  • Site-wide: 15,282
  • In genetics: 757
• Year to date:
  • Site-wide: 50,472
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  • Site-wide: 29,854

The Genetic Landscape of Diamond-Blackfan Anemia

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  • Site-wide: 17,631
  • In genetics: 864
• Year to date:
  • Site-wide: 103,746
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  • Site-wide: 101,639

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

• Downloaded 939 times
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  • Site-wide: 22,849
  • In infectious diseases: 1,774
• Year to date:
  • Site-wide: 16,713
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  • Site-wide: 11,791

Schizophrenia risk conferred by protein-coding de novo mutations

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  • Site-wide: 26,886
  • In genetics: 1,307
• Year to date:
  • Site-wide: 90,588
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  • Site-wide: 83,503

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

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  • Site-wide: 28,006
  • In genetic and genomic medicine: 88
• Year to date:
  • Site-wide: 5,125
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  • Site-wide: 5,837

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

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  • Site-wide: 32,828
  • In genetics: 1,594
• Year to date:
  • Site-wide: 107,771
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  • Site-wide: 101,939

The genomic landscape of clonal hematopoiesis in Japan

• Downloaded 608 times
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  • Site-wide: 41,440
  • In genetics: 1,966
• Year to date:
  • Site-wide: 92,498
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  • Site-wide: 80,413

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

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  • Site-wide: 42,184
  • In neuroscience: 6,032
• Year to date:
  • Site-wide: 23,664
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  • Site-wide: 44,807

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

• Downloaded 522 times
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  • Site-wide: 49,866
  • In genetics: 2,336
• Year to date:
  • Site-wide: 102,437
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  • Site-wide: 83,040

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

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  • Site-wide: 55,437
  • In genomics: 4,200
• Year to date:
  • Site-wide: 50,452
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  • Site-wide: 70,062

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

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  • Site-wide: 71,599
  • In genomics: 4,934
• Year to date:
  • Site-wide: 29,179
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  • Site-wide: 39,810

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

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  • Site-wide: 82,865
  • In neuroscience: 12,744
• Year to date:
  • Site-wide: 45,306
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  • Site-wide: 42,259

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

• Downloaded 151 times
• Download rankings, all-time:
  • Site-wide: 116,952
  • In genetic and genomic medicine: 543
• Year to date:
  • Site-wide: 14,695
• Since beginning of last month:
  • Site-wide: 3,785