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Author: Claudia Gonzaga-Jauregui

Rankings

  • All-time downloads: 20,847 (rank: 9,876 )
  • Categories:
    • bioinformatics: 1,583 (rank: 10,343 (tie) )
    • genetic and genomic medicine: 471 (rank: 6,598 (tie) )
    • genetics: 2,218 (rank: 8,810 )
    • genomics: 16,367 (rank: 958 (tie) )
    • neuroscience: 208 (rank: 76,586 (tie) )

Downloads per author, site-wide

Preprints

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank

genomics more details view paper
  • Downloaded 13,838 times
  • Download rankings, all-time:
    • Site-wide: 628
    • In genomics: 33
  • Year to date:
    • Site-wide: 2,808
  • Since beginning of last month:
    • Site-wide: 1,604

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes

genomics more details view paper
  • Downloaded 1,605 times
  • Download rankings, all-time:
    • Site-wide: 12,277
    • In genomics: 1,261
  • Year to date:
    • Site-wide: 84,531
  • Since beginning of last month:
    • Site-wide: 85,157

KaryoScan: abnormal karyotype detection from whole-exome sequence

bioinformatics more details view paper
  • Downloaded 1,362 times
  • Download rankings, all-time:
    • Site-wide: 15,708
    • In bioinformatics: 1,824
  • Year to date:
    • Site-wide: 42,348
  • Since beginning of last month:
    • Site-wide: None

Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn′s Disease

genetics more details view paper
  • Downloaded 1,081 times
  • Download rankings, all-time:
    • Site-wide: 22,127
    • In genetics: 1,011
  • Year to date:
    • Site-wide: 56,995
  • Since beginning of last month:
    • Site-wide: None

Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes

genomics more details view paper
  • Downloaded 924 times
  • Download rankings, all-time:
    • Site-wide: 27,807
    • In genomics: 2,511
  • Year to date:
    • Site-wide: 100,462
  • Since beginning of last month:
    • Site-wide: None

Novel risk genes and mechanisms implicated by exome sequencing of 2,572 individuals with pulmonary arterial hypertension

genetics more details view paper
  • Downloaded 707 times
  • Download rankings, all-time:
    • Site-wide: 40,417
    • In genetics: 1,815
  • Year to date:
    • Site-wide: 81,197
  • Since beginning of last month:
    • Site-wide: 25,173

Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity

genetics more details view paper
  • Downloaded 430 times
  • Download rankings, all-time:
    • Site-wide: 72,972
    • In genetics: 3,206
  • Year to date:
    • Site-wide: 59,279
  • Since beginning of last month:
    • Site-wide: 14,095

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

genetic and genomic medicine more details view paper
  • Downloaded 265 times
  • Download rankings, all-time:
    • Site-wide: 107,584
    • In genetic and genomic medicine: 531
  • Year to date:
    • Site-wide: 44,128
  • Since beginning of last month:
    • Site-wide: 38,796

Validating gene-phenotype associations using relationships in the UMLS

bioinformatics more details view paper
  • Downloaded 221 times
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    • Site-wide: 118,608
    • In bioinformatics: 9,683
  • Year to date:
    • Site-wide: 80,272
  • Since beginning of last month:
    • Site-wide: 129,330

NPRL3: Direct Effects on Human Phenotypic Variability, mTOR Signaling, Subcellular mTOR Localization, Cortical Lamination, and Seizure Susceptibility

neuroscience more details view paper
  • Downloaded 208 times
  • Download rankings, all-time:
    • Site-wide: 121,835
    • In neuroscience: 18,442
  • Year to date:
    • Site-wide: 52,297
  • Since beginning of last month:
    • Site-wide: 43,912

Genomic analyses in a large clinical cohort reveal high prevalence of MECP2 variants associated with neuropsychiatric phenotypes in adulthood

genetic and genomic medicine more details view paper
  • Downloaded 206 times
  • Download rankings, all-time:
    • Site-wide: 122,481
    • In genetic and genomic medicine: 647
  • Year to date:
    • Site-wide: 31,304
  • Since beginning of last month:
    • Site-wide: 16,784

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