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Author: Giulio Genovese

Rankings

  • All-time downloads: 29,106 (rank: 5,516 (tie) )
  • Categories:
    • epidemiology: 422 (rank: 17,179 (tie) )
    • genetic and genomic medicine: 5,706 (rank: 117 )
    • genetics: 18,285 (rank: 767 )
    • genomics: 4,693 (rank: 5,132 (tie) )

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Preprints

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

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

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    • Site-wide: 2,533
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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: 3,186
    • In genetic and genomic medicine: 11
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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

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    • In genetics: 423
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Monogenic and polygenic inheritance become instruments for clonal selection

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    • Site-wide: 12,037
    • In genetics: 579
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Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

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  • Downloaded 1,474 times
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    • Site-wide: 12,210
    • In genomics: 1,314
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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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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  • Downloaded 1,400 times
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    • Site-wide: 13,231
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Non-crossover gene conversions show strong GC bias and unexpected clustering in humans

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

genetics more details view paper
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    • Site-wide: 18,114
    • In genetics: 878
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The Genetic Landscape of Diamond-Blackfan Anemia

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  • Downloaded 1,128 times
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    • Site-wide: 18,299
    • In genetics: 883
  • Year to date:
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Large mosaic copy number variations confer autism risk

genetic and genomic medicine more details view paper
  • Downloaded 1,123 times
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    • Site-wide: 18,409
    • In genetic and genomic medicine: 67
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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 1,076 times
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    • Site-wide: 19,604
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    • Site-wide: 80,102
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Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

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  • Downloaded 876 times
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    • Site-wide: 26,366
    • In genetic and genomic medicine: 89
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    • Site-wide: 6,186
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    • Site-wide: 10,983

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

genomics more details view paper
  • Downloaded 871 times
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    • Site-wide: 26,606
    • In genomics: 2,476
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    • Site-wide: 17,411
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    • Site-wide: 22,613

Schizophrenia risk conferred by protein-coding de novo mutations

genetics more details view paper
  • Downloaded 848 times
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    • Site-wide: 27,614
    • In genetics: 1,323
  • Year to date:
    • Site-wide: 87,315
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    • Site-wide: 69,899

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

genetics more details view paper
  • Downloaded 823 times
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    • Site-wide: 28,799
    • In genetics: 1,383
  • Year to date:
    • Site-wide: 136,498
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    • Site-wide: 133,471

Leveraging distant relatedness to quantify human mutation and gene conversion rates

genetics more details view paper
  • Downloaded 768 times
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    • Site-wide: 31,761
    • In genetics: 1,513
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    • Site-wide: 126,629
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    • Site-wide: 104,254

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

genomics more details view paper
  • Downloaded 488 times
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    • Site-wide: 56,316
    • In genomics: 4,253
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Genetic ancestry contributes to somatic mutations in lung cancers from admixed Latin American populations

epidemiology more details view paper
  • Downloaded 422 times
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    • Site-wide: 65,740
    • In epidemiology: 2,813
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Biological insights from the whole genome analysis of human embryonic stem cells

genomics more details view paper
  • Downloaded 393 times
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    • Site-wide: 70,479
    • In genomics: 4,877
  • Year to date:
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