Rxivist logo

Author: David R. FitzPatrick

Rankings

  • All-time downloads: 18,919 (rank: 3,006 (tie) out of 382,605)
  • Categories:
    • cell biology: 629 (rank: 9,357 (tie) out of 28,405)
    • genetics: 13,920 (rank: 795 out of 35,298)
    • genomics: 4,370 (rank: 4,264 (tie) out of 40,766)

Downloads per author, site-wide

Preprints

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

genetics more details view paper
  • Downloaded 7,210 times
  • Download rankings, all-time:
    • Site-wide: 406 out of 89,267
    • In genetics: 31 out of 4,618
  • Year to date:
    • Site-wide: 13,032 out of 89,267
  • Since beginning of last month:
    • Site-wide: 17,070 out of 89,267

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

genomics more details view paper
  • Downloaded 2,533 times
  • Download rankings, all-time:
    • Site-wide: 2,460 out of 89,267
    • In genomics: 469 out of 5,695
  • Year to date:
    • Site-wide: 1,174 out of 89,267
  • Since beginning of last month:
    • Site-wide: 1,188 out of 89,267

De novo mutations in regulatory elements cause neurodevelopmental disorders

genetics more details view paper
  • Downloaded 2,063 times
  • Download rankings, all-time:
    • Site-wide: 3,468 out of 89,267
    • In genetics: 267 out of 4,618
  • Year to date:
    • Site-wide: 80,996 out of 89,267
  • Since beginning of last month:
    • Site-wide: 46,340 out of 89,267

Quantifying the contribution of recessive coding variation to developmental disorders

genetics more details view paper
  • Downloaded 1,781 times
  • Download rankings, all-time:
    • Site-wide: 4,424 out of 89,267
    • In genetics: 322 out of 4,618
  • Year to date:
    • Site-wide: 21,897 out of 89,267
  • Since beginning of last month:
    • Site-wide: 13,415 out of 89,267

Pathogenicity and selective constraint on variation near splice sites

genetics more details view paper
  • Downloaded 1,377 times
  • Download rankings, all-time:
    • Site-wide: 6,748 out of 89,267
    • In genetics: 484 out of 4,618
  • Year to date:
    • Site-wide: 25,764 out of 89,267
  • Since beginning of last month:
    • Site-wide: 22,285 out of 89,267

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

genomics more details view paper
  • Downloaded 1,032 times
  • Download rankings, all-time:
    • Site-wide: 10,913 out of 89,267
    • In genomics: 1,552 out of 5,695
  • Year to date:
    • Site-wide: 26,622 out of 89,267
  • Since beginning of last month:
    • Site-wide: 40,765 out of 89,267

De novo variants in population constrained fetal brain enhancers and intellectual disability

genomics more details view paper
  • Downloaded 805 times
  • Download rankings, all-time:
    • Site-wide: 16,075 out of 89,267
    • In genomics: 2,044 out of 5,695
  • Year to date:
    • Site-wide: 19,753 out of 89,267
  • Since beginning of last month:
    • Site-wide: 28,704 out of 89,267

Contribution of Retrotransposition to Developmental Disorders

genetics more details view paper
  • Downloaded 725 times
  • Download rankings, all-time:
    • Site-wide: 18,810 out of 89,267
    • In genetics: 1,196 out of 4,618
  • Year to date:
    • Site-wide: 45,830 out of 89,267
  • Since beginning of last month:
    • Site-wide: 42,448 out of 89,267

Cornelia-de-Lange syndrome-associated mutations cause a DNA damage signalling and repair defect

cell biology more details view paper
  • Downloaded 629 times
  • Download rankings, all-time:
    • Site-wide: 23,206 out of 89,267
    • In cell biology: 1,045 out of 4,580
  • Year to date:
    • Site-wide: 32,047 out of 89,267
  • Since beginning of last month:
    • Site-wide: 37,603 out of 89,267

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

genetics more details view paper
  • Downloaded 434 times
  • Download rankings, all-time:
    • Site-wide: 37,090 out of 89,267
    • In genetics: 2,182 out of 4,618
  • Year to date:
    • Site-wide: 63,146 out of 89,267
  • Since beginning of last month:
    • Site-wide: 49,449 out of 89,267

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

genetics more details view paper
  • Downloaded 330 times
  • Download rankings, all-time:
    • Site-wide: 49,003 out of 89,267
    • In genetics: 2,792 out of 4,618
  • Year to date:
    • Site-wide: 71,162 out of 89,267
  • Since beginning of last month:
    • Site-wide: 65,829 out of 89,267

PanLingua

Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News