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Author: Jenny C Taylor

Rankings

  • All-time downloads: 7,378 (rank: 26,600 (tie) )
  • Categories:
    • bioinformatics: 482 (rank: 25,414 (tie) )
    • genetic and genomic medicine: 767 (rank: 2,626 (tie) )
    • genetics: 3,456 (rank: 4,945 )
    • genomics: 1,945 (rank: 11,989 (tie) )
    • immunology: 111 (rank: 31,520 (tie) )
    • molecular biology: 617 (rank: 9,743 (tie) )

Downloads per author, site-wide

Preprints

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

genetics more details view paper
  • Downloaded 2,058 times
  • Download rankings, all-time:
    • Site-wide: 7,131
    • In genetics: 339
  • Year to date:
    • Site-wide: 88,238
  • Since beginning of last month:
    • Site-wide: 105,801

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

genetic and genomic medicine more details view paper
  • Downloaded 767 times
  • Download rankings, all-time:
    • Site-wide: 30,459
    • In genetic and genomic medicine: 96
  • Year to date:
    • Site-wide: 16,335
  • Since beginning of last month:
    • Site-wide: 12,759

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

genomics more details view paper
  • Downloaded 739 times
  • Download rankings, all-time:
    • Site-wide: 32,076
    • In genomics: 2,848
  • Year to date:
    • Site-wide: 9,805
  • Since beginning of last month:
    • Site-wide: 16,214

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

genetics more details view paper
  • Downloaded 736 times
  • Download rankings, all-time:
    • Site-wide: 32,286
    • In genetics: 1,564
  • Year to date:
    • Site-wide: 15,440
  • Since beginning of last month:
    • Site-wide: 19,844

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

genetics more details view paper
  • Downloaded 662 times
  • Download rankings, all-time:
    • Site-wide: 37,249
    • In genetics: 1,776
  • Year to date:
    • Site-wide: 61,184
  • Since beginning of last month:
    • Site-wide: 68,324

Bi-allelic MCM10 mutations cause telomere shortening with immune dysfunction and cardiomyopathy

molecular biology more details view paper
  • Downloaded 617 times
  • Download rankings, all-time:
    • Site-wide: 40,766
    • In molecular biology: 1,167
  • Year to date:
    • Site-wide: 34,257
  • Since beginning of last month:
    • Site-wide: 46,711

Differential genomic and transcriptomic events associated with high-grade transformation of Chronic Lymphocytic Leukemia

genomics more details view paper
  • Downloaded 498 times
  • Download rankings, all-time:
    • Site-wide: 52,869
    • In genomics: 4,089
  • Year to date:
    • Site-wide: 33,814
  • Since beginning of last month:
    • Site-wide: 30,759

A statistical approach for tracking clonal dynamics in cancer using longitudinal next-generation sequencing data

bioinformatics more details view paper
  • Downloaded 482 times
  • Download rankings, all-time:
    • Site-wide: 54,915
    • In bioinformatics: 5,590
  • Year to date:
    • Site-wide: 119,011
  • Since beginning of last month:
    • Site-wide: 122,268

A high throughput screen for active human transposable elements

genomics more details view paper
  • Downloaded 444 times
  • Download rankings, all-time:
    • Site-wide: 59,950
    • In genomics: 4,431
  • Year to date:
    • Site-wide: 131,680
  • Since beginning of last month:
    • Site-wide: 124,230

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

genomics more details view paper
  • Downloaded 264 times
  • Download rankings, all-time:
    • Site-wide: 92,651
    • In genomics: 5,732
  • Year to date:
    • Site-wide: 77,521
  • Since beginning of last month:
    • Site-wide: 99,687

A FOXN1 mutation competitively displaces wild-type FOXN1 from higher order nuclear condensates to cause immunodeficiency

immunology more details view paper
  • Downloaded 111 times
  • Download rankings, all-time:
    • Site-wide: 124,994
    • In immunology: 3,586
  • Year to date:
    • Site-wide: 22,228
  • Since beginning of last month:
    • Site-wide: 6,311

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