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Author: Giulio Genovese

Rankings

  • All-time downloads: 33,264 (rank: 6,044 )
  • Categories:
    • epidemiology: 482 (rank: 19,672 (tie) )
    • genetic and genomic medicine: 8,478 (rank: 118 )
    • genetics: 18,779 (rank: 789 )
    • genomics: 5,149 (rank: 5,101 (tie) )
    • neuroscience: 376 (rank: 62,705 (tie) )

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Preprints

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

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    • Site-wide: 2,318
    • In genetic and genomic medicine: 10
  • Year to date:
    • Site-wide: 961
  • Since beginning of last month:
    • Site-wide: 933

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

genetics more details view paper
  • Downloaded 4,394 times
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    • Site-wide: 3,083
    • In genetics: 97
  • Year to date:
    • Site-wide: 87,600
  • Since beginning of last month:
    • Site-wide: 126,425

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

genetics more details view paper
  • Downloaded 2,351 times
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    • Site-wide: 7,506
    • In genetics: 320
  • Year to date:
    • Site-wide: 118,519
  • Since beginning of last month:
    • Site-wide: 112,655

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

genetics more details view paper
  • Downloaded 1,855 times
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    • Site-wide: 10,628
    • In genetics: 459
  • Year to date:
    • Site-wide: 77,904
  • Since beginning of last month:
    • Site-wide: 105,185

Monogenic and polygenic inheritance become instruments for clonal selection

genetics more details view paper
  • Downloaded 1,555 times
  • Download rankings, all-time:
    • Site-wide: 13,742
    • In genetics: 610
  • Year to date:
    • Site-wide: 87,644
  • Since beginning of last month:
    • Site-wide: 77,937

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

genomics more details view paper
  • Downloaded 1,515 times
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    • Site-wide: 14,335
    • In genomics: 1,425
  • Year to date:
    • Site-wide: 107,390
  • Since beginning of last month:
    • Site-wide: 134,882

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

genomics more details view paper
  • Downloaded 1,495 times
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    • Site-wide: 14,651
    • In genomics: 1,451
  • Year to date:
    • Site-wide: 117,239
  • Since beginning of last month:
    • Site-wide: 111,377

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

genetics more details view paper
  • Downloaded 1,450 times
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    • Site-wide: 15,390
    • In genetics: 687
  • Year to date:
    • Site-wide: 72,859
  • Since beginning of last month:
    • Site-wide: 114,260

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

genetic and genomic medicine more details view paper
  • Downloaded 1,307 times
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    • Site-wide: 17,971
    • In genetic and genomic medicine: 82
  • Year to date:
    • Site-wide: 6,102
  • Since beginning of last month:
    • Site-wide: 14,222

Large mosaic copy number variations confer autism risk

genetic and genomic medicine more details view paper
  • Downloaded 1,264 times
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    • Site-wide: 18,875
    • In genetic and genomic medicine: 84
  • Year to date:
    • Site-wide: 26,089
  • Since beginning of last month:
    • Site-wide: 65,808

Non-crossover gene conversions show strong GC bias and unexpected clustering in humans

genetics more details view paper
  • Downloaded 1,200 times
  • Download rankings, all-time:
    • Site-wide: 20,377
    • In genetics: 914
  • Year to date:
    • Site-wide: 127,801
  • Since beginning of last month:
    • Site-wide: 150,057

Haplotype sharing provides insights into fine-scale population history and disease in Finland

genetics more details view paper
  • Downloaded 1,170 times
  • Download rankings, all-time:
    • Site-wide: 21,173
    • In genetics: 943
  • Year to date:
    • Site-wide: 99,212
  • Since beginning of last month:
    • Site-wide: 136,257

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 1,165 times
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    • Site-wide: 21,298
    • In genetics: 952
  • Year to date:
    • Site-wide: 124,998
  • Since beginning of last month:
    • Site-wide: 141,259

The weighting is the hardest part: on the behavior of the likelihood ratio test and score test under weight misspecification in rare variant association studies

genetics more details view paper
  • Downloaded 1,114 times
  • Download rankings, all-time:
    • Site-wide: 22,760
    • In genetics: 1,012
  • Year to date:
    • Site-wide: 109,617
  • Since beginning of last month:
    • Site-wide: 126,005

Publicly available hiPSC lines with extreme polygenic risk scores for modeling schizophrenia

genomics more details view paper
  • Downloaded 1,033 times
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    • Site-wide: 25,521
    • In genomics: 2,338
  • Year to date:
    • Site-wide: 22,392
  • Since beginning of last month:
    • Site-wide: 17,725

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 893 times
  • Download rankings, all-time:
    • Site-wide: 31,488
    • In genetics: 1,402
  • Year to date:
    • Site-wide: 107,336
  • Since beginning of last month:
    • Site-wide: 121,464

Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers

genetics more details view paper
  • Downloaded 835 times
  • Download rankings, all-time:
    • Site-wide: 34,595
    • In genetics: 1,540
  • Year to date:
    • Site-wide: 159,664
  • Since beginning of last month:
    • Site-wide: 155,513

Leveraging distant relatedness to quantify human mutation and gene conversion rates

genetics more details view paper
  • Downloaded 797 times
  • Download rankings, all-time:
    • Site-wide: 37,009
    • In genetics: 1,636
  • Year to date:
    • Site-wide: 143,476
  • Since beginning of last month:
    • Site-wide: 126,015

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

genomics more details view paper
  • Downloaded 571 times
  • Download rankings, all-time:
    • Site-wide: 57,766
    • In genomics: 4,253
  • Year to date:
    • Site-wide: 65,565
  • Since beginning of last month:
    • Site-wide: 55,416

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

genomics more details view paper
  • Downloaded 535 times
  • Download rankings, all-time:
    • Site-wide: 62,387
    • In genomics: 4,490
  • Year to date:
    • Site-wide: 34,303
  • Since beginning of last month:
    • Site-wide: 32,577

Genetic ancestry contributes to somatic mutations in lung cancers from admixed Latin American populations

epidemiology more details view paper
  • Downloaded 482 times
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    • Site-wide: 70,319
    • In epidemiology: 3,108
  • Year to date:
    • Site-wide: 54,045
  • Since beginning of last month:
    • Site-wide: 122,368

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

neuroscience more details view paper
  • Downloaded 376 times
  • Download rankings, all-time:
    • Site-wide: 89,853
    • In neuroscience: 13,383
  • Year to date:
    • Site-wide: 19,691
  • Since beginning of last month:
    • Site-wide: 1,486

A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program

genetic and genomic medicine more details view paper
  • Downloaded 261 times
  • Download rankings, all-time:
    • Site-wide: 117,861
    • In genetic and genomic medicine: 650
  • Year to date:
    • Site-wide: 32,575
  • Since beginning of last month:
    • Site-wide: None

Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

genetic and genomic medicine more details view paper
  • Downloaded 246 times
  • Download rankings, all-time:
    • Site-wide: 121,748
    • In genetic and genomic medicine: 679
  • Year to date:
    • Site-wide: 35,153
  • Since beginning of last month:
    • Site-wide: 37,806

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