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Author: Mafalda Barbosa

  • Most recently observed institution: Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA

Rankings

  • All-time downloads: 14,484 (rank: 21,279 (tie) )
  • Categories:
    • developmental biology: 480 (rank: 14,166 (tie) )
    • genetics: 10,736 (rank: 1,738 (tie) )
    • genomics: 541 (rank: 41,001 (tie) )
    • neurology: 1,323 (rank: 1,535 (tie) )

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Preprints

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

genetics more details view paper
  • Downloaded 10,921 times
  • Download rankings, all-time:
    • Site-wide: 1,171
    • In genetics: 23
  • Year to date:
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Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

neurology more details view paper
  • Downloaded 2,454 times
  • Download rankings, all-time:
    • Site-wide: 8,964
    • In neurology: 52
  • Year to date:
    • Site-wide: 864
  • Since beginning of last month:
    • Site-wide: 1,156

Identification of rare de novo epigenetic variations in congenital disorders

genomics more details view paper
  • Downloaded 563 times
  • Download rankings, all-time:
    • Site-wide: 79,473
    • In genomics: 4,893
  • Year to date:
    • Site-wide: 159,570
  • Since beginning of last month:
    • Site-wide: 164,684

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

developmental biology more details view paper
  • Downloaded 546 times
  • Download rankings, all-time:
    • Site-wide: 82,753
    • In developmental biology: 2,131
  • Year to date:
    • Site-wide: 48,918
  • Since beginning of last month:
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