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Author: Damian Smedley

  • ORCiD: http://orcid.org/0000-0002-5836-9850
  • Most recently observed institution: William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK

Rankings

  • All-time downloads: 6,116 (rank: 39,122 (tie) )
  • Categories:
    • bioinformatics: 2,277 (rank: 7,127 (tie) )
    • evolutionary biology: 819 (rank: 9,372 (tie) )
    • genetic and genomic medicine: 771 (rank: 4,425 (tie) )
    • genomics: 1,080 (rank: 22,714 (tie) )
    • neurology: 1,169 (rank: 1,022 (tie) )

Downloads per author, site-wide

Preprints

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

neurology more details view paper
  • Downloaded 1,169 times
  • Download rankings, all-time:
    • Site-wide: 19,716
    • In neurology: 40
  • Year to date:
    • Site-wide: 4,065
  • Since beginning of last month:
    • Site-wide: 18,742

Human and mouse essentiality screens as a resource for disease gene discovery

genomics more details view paper
  • Downloaded 1,080 times
  • Download rankings, all-time:
    • Site-wide: 22,135
    • In genomics: 2,106
  • Year to date:
    • Site-wide: 69,184
  • Since beginning of last month:
    • Site-wide: 116,908

The Monarch Initiative: Insights across species reveal human disease mechanisms

evolutionary biology more details view paper
  • Downloaded 819 times
  • Download rankings, all-time:
    • Site-wide: 32,895
    • In evolutionary biology: 1,482
  • Year to date:
    • Site-wide: 77,251
  • Since beginning of last month:
    • Site-wide: None

Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

genetic and genomic medicine more details view paper
  • Downloaded 771 times
  • Download rankings, all-time:
    • Site-wide: 35,867
    • In genetic and genomic medicine: 141
  • Year to date:
    • Site-wide: 37,112
  • Since beginning of last month:
    • Site-wide: 56,714

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

bioinformatics more details view paper
  • Downloaded 763 times
  • Download rankings, all-time:
    • Site-wide: 36,371
    • In bioinformatics: 3,943
  • Year to date:
    • Site-wide: 4,946
  • Since beginning of last month:
    • Site-wide: 73,097

Navigating the phenotype frontier: The Monarch Initiative

bioinformatics more details view paper
  • Downloaded 649 times
  • Download rankings, all-time:
    • Site-wide: 45,172
    • In bioinformatics: 4,716
  • Year to date:
    • Site-wide: 146,180
  • Since beginning of last month:
    • Site-wide: None

Soft Windowing Application to Improve Analysis of High-throughput Phenotyping Data

bioinformatics more details view paper
  • Downloaded 324 times
  • Download rankings, all-time:
    • Site-wide: 93,745
    • In bioinformatics: 8,205
  • Year to date:
    • Site-wide: 133,441
  • Since beginning of last month:
    • Site-wide: 117,058

SvAnna: efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing

bioinformatics more details view paper
  • Downloaded 245 times
  • Download rankings, all-time:
    • Site-wide: 112,633
    • In bioinformatics: 9,355
  • Year to date:
    • Site-wide: 25,065
  • Since beginning of last month:
    • Site-wide: 10,964

OpenStats: A Robust and Scalable Software Package for Reproducible Analysis of High-Throughput Phenotypic Data

bioinformatics more details view paper
  • Downloaded 185 times
  • Download rankings, all-time:
    • Site-wide: 127,436
    • In bioinformatics: 10,188
  • Year to date:
    • Site-wide: 114,030
  • Since beginning of last month:
    • Site-wide: 38,519

Dimensional reduction of phenotypes from 53,000 mouse models reveals a diverse landscape of gene function

bioinformatics more details view paper
  • Downloaded 111 times
  • Download rankings, all-time:
    • Site-wide: 143,703
    • In bioinformatics: 11,027
  • Year to date:
    • Site-wide: 61,925
  • Since beginning of last month:
    • Site-wide: None

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