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Author: Giulio Genovese

  • ORCiD: http://orcid.org/0000-0003-3066-5575
  • Most recently observed institution: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Stanley Center, Broad Institute of Harvard and MIT, Cambridge, MA, USA; Department of Genetics, Harvard Medical School, Boston, MA, USA

Rankings

  • All-time downloads: 44,560 (rank: 5,893 )
  • Categories:
    • epidemiology: 586 (rank: 24,460 (tie) )
    • genetic and genomic medicine: 16,700 (rank: 33 )
    • genetics: 20,001 (rank: 885 (tie) )
    • genomics: 5,987 (rank: 5,370 (tie) )
    • neuroscience: 885 (rank: 45,761 (tie) )

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Preprints

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

genetic and genomic medicine more details view paper

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

genetic and genomic medicine more details view paper
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    • Site-wide: 1,516
    • In genetic and genomic medicine: 8
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    • Site-wide: 1,209

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

genetics more details view paper
  • Downloaded 4,517 times
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    • Site-wide: 4,016
    • In genetics: 112
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

genetics more details view paper
  • Downloaded 2,468 times
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A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

genetics more details view paper
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Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

genetic and genomic medicine more details view paper
  • Downloaded 1,913 times
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    • Site-wide: 14,413
    • In genetic and genomic medicine: 89
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Monogenic and polygenic inheritance become instruments for clonal selection

genetics more details view paper
  • Downloaded 1,682 times
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    • In genetics: 707
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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 1,674 times
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Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

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

genomics more details view paper
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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

genetics more details view paper
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    • Site-wide: 18,978
    • In genetics: 766
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Large mosaic copy number variations confer autism risk

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    • In genetic and genomic medicine: 137
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Non-crossover gene conversions show strong GC bias and unexpected clustering in humans

genetics more details view paper
  • Downloaded 1,317 times
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    • Site-wide: 26,024
    • In genetics: 1,034
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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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    • In genetics: 1,087
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The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 1,267 times
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    • Site-wide: 27,692
    • In genetics: 1,094
  • Year to date:
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    • Site-wide: 176,732

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

genomics more details view paper
  • Downloaded 1,213 times
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    • Site-wide: 29,647
    • In genomics: 2,489
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    • Site-wide: 133,580
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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 1,204 times
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    • Site-wide: 29,959
    • In genetics: 1,192
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    • Site-wide: 59,600
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    • Site-wide: 145,447

Schizophrenia risk conferred by protein-coding de novo mutations

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  • Downloaded 1,001 times
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    • Site-wide: 39,873
    • In genetics: 1,576
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    • Site-wide: 167,152
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    • Site-wide: 90,253

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

neuroscience more details view paper
  • Downloaded 889 times
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    • Site-wide: 47,979
    • In neuroscience: 6,300
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Mosaic Mutations in Blood DNA Sequence Are Associated with Solid Tumor Cancers

genetics more details view paper
  • Downloaded 888 times
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    • In genetics: 1,878
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Leveraging distant relatedness to quantify human mutation and gene conversion rates

genetics more details view paper
  • Downloaded 872 times
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    • Site-wide: 49,366
    • In genetics: 1,933
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Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

genomics more details view paper
  • Downloaded 815 times
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    • Site-wide: 54,701
    • In genomics: 3,971
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Biological insights from the whole genome analysis of human embryonic stem cells

genomics more details view paper
  • Downloaded 774 times
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    • Site-wide: 59,067
    • In genomics: 4,175
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Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions

genetic and genomic medicine more details view paper
  • Downloaded 726 times
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    • Site-wide: 64,971
    • In genetic and genomic medicine: 420
  • Year to date:
    • Site-wide: 24,023
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Germline genomic and phenomic landscape of clonal hematopoiesis in 323,112 individuals

genetic and genomic medicine more details view paper
  • Downloaded 709 times
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    • Site-wide: 67,140
    • In genetic and genomic medicine: 464
  • Year to date:
    • Site-wide: 9,063
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    • Site-wide: 11,126

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

epidemiology more details view paper
  • Downloaded 604 times
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    • Site-wide: 83,178
    • In epidemiology: 3,770
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    • Site-wide: 18,182
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Genetic variant in SPDL1 reveals novel mechanism linking pulmonary fibrosis risk and cancer protection

genetic and genomic medicine more details view paper
  • Downloaded 492 times
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    • Site-wide: 106,279
    • In genetic and genomic medicine: 716
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The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

genetic and genomic medicine more details view paper
  • Downloaded 433 times
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    • Site-wide: 121,084
    • In genetic and genomic medicine: 812
  • Year to date:
    • Site-wide: 189,116
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Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia, Bipolar Disorder, and Depression in the VA Health Care System

genetic and genomic medicine more details view paper
  • Downloaded 314 times
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    • Site-wide: 155,911
    • In genetic and genomic medicine: 1,120
  • Year to date:
    • Site-wide: 51,596
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