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Author: David N. Cooper

Rankings

  • All-time downloads: 34,428 (rank: 4,108 )
  • Categories:
    • bioinformatics: 4,287 (rank: 2,686 (tie) )
    • gastroenterology: 160 (rank: 1,262 (tie) )
    • genetic and genomic medicine: 586 (rank: 2,945 )
    • genetics: 5,616 (rank: 3,392 )
    • genomics: 23,779 (rank: 400 )

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Preprints

Analysis of protein-coding genetic variation in 60,706 humans

genomics more details view paper
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    • Site-wide: 296
    • In genomics: 11
  • Year to date:
    • Site-wide: 51,933
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    • Site-wide: None

MutPred2: inferring the molecular and phenotypic impact of amino acid variants

bioinformatics more details view paper
  • Downloaded 3,767 times
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    • Site-wide: 2,785
    • In bioinformatics: 272
  • Year to date:
    • Site-wide: 14,857
  • Since beginning of last month:
    • Site-wide: 12,657

AMELIE accelerates Mendelian patient diagnosis directly from the primary literature

genetics more details view paper
  • Downloaded 2,072 times
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    • Site-wide: 6,628
    • In genetics: 328
  • Year to date:
    • Site-wide: 76,101
  • Since beginning of last month:
    • Site-wide: 55,551

Developmental gene expression differences between humans and mammalian models

genomics more details view paper
  • Downloaded 932 times
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    • Site-wide: 21,861
    • In genomics: 2,179
  • Year to date:
    • Site-wide: 38,767
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AVADA Enables Automated Genetic Variant Curation Directly from the Full Text Literature

genetics more details view paper
  • Downloaded 701 times
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    • Site-wide: 32,575
    • In genetics: 1,616
  • Year to date:
    • Site-wide: 47,380
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    • Site-wide: 80,031

S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing

genomics more details view paper
  • Downloaded 620 times
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    • Site-wide: 38,341
    • In genomics: 3,265
  • Year to date:
    • Site-wide: 43,170
  • Since beginning of last month:
    • Site-wide: 34,147

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns

genetics more details view paper
  • Downloaded 593 times
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    • Site-wide: 40,480
    • In genetics: 1,954
  • Year to date:
    • Site-wide: 62,038
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    • Site-wide: 33,397

RegSNPs-Intron: A Computational Framework For Prioritizing Intronic Single Nucleotide Variants in Human Genetic Disease

bioinformatics more details view paper
  • Downloaded 520 times
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    • Site-wide: 47,557
    • In bioinformatics: 4,994
  • Year to date:
    • Site-wide: 59,211
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    • Site-wide: 45,488

First estimation of the scale of canonical 5' splice site GT>GC mutations generating wild-type transcripts and their medical genetic implications

genetics more details view paper
  • Downloaded 462 times
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    • Site-wide: 54,446
    • In genetics: 2,580
  • Year to date:
    • Site-wide: 71,598
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    • Site-wide: 80,212

AMELIE 2 speeds up Mendelian diagnosis by matching patient phenotype & genotype to primary literature

genetics more details view paper
  • Downloaded 454 times
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    • Site-wide: 55,476
    • In genetics: 2,627
  • Year to date:
    • Site-wide: 53,006
  • Since beginning of last month:
    • Site-wide: 39,413

The experimentally obtained functional impact assessments of GT>GC 5' splice site variants differ markedly from those predicted

genetics more details view paper
  • Downloaded 384 times
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    • Site-wide: 65,643
    • In genetics: 3,084
  • Year to date:
    • Site-wide: 27,528
  • Since beginning of last month:
    • Site-wide: 34,328

Identifying novel high-impact rare disease-causing mutations, genes and pathways in exomes of Ashkenazi Jewish inflammatory bowel disease patients

genetic and genomic medicine more details view paper
  • Downloaded 356 times
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    • Site-wide: 70,456
    • In genetic and genomic medicine: 213
  • Year to date:
    • Site-wide: 21,494
  • Since beginning of last month:
    • Site-wide: 15,849

Identification of Discriminative Gene-level and Protein-level Features Associated with Gain-of-Function and Loss-of-Function Mutations

genetics more details view paper
  • Downloaded 348 times
  • Download rankings, all-time:
    • Site-wide: 71,678
    • In genetics: 3,350
  • Year to date:
    • Site-wide: 2,193
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    • Site-wide: None

PIVOTAL: Prioritizing variants of uncertain significance with spatial genomic patterns in the 3D proteome

genomics more details view paper
  • Downloaded 291 times
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    • Site-wide: 82,540
    • In genomics: 5,356
  • Year to date:
    • Site-wide: 23,332
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    • Site-wide: 21,313

Genetic analysis of the STIM1 gene in chronic pancreatitis

genetics more details view paper
  • Downloaded 256 times
  • Download rankings, all-time:
    • Site-wide: 90,080
    • In genetics: 4,105
  • Year to date:
    • Site-wide: 70,879
  • Since beginning of last month:
    • Site-wide: 61,645

5' splice site GC>GT variants differ from GT>GC variants in terms of their functionality and pathogenicity

genetics more details view paper
  • Downloaded 177 times
  • Download rankings, all-time:
    • Site-wide: 106,873
    • In genetics: 4,758
  • Year to date:
    • Site-wide: 103,157
  • Since beginning of last month:
    • Site-wide: 77,803

RNA secondary structure mediated by Alu insertion as a novel disease-causing mechanism

genetics more details view paper
  • Downloaded 169 times
  • Download rankings, all-time:
    • Site-wide: 108,525
    • In genetics: 4,812
  • Year to date:
    • Site-wide: 104,885
  • Since beginning of last month:
    • Site-wide: 97,846

Role of the common PRSS1-PRSS2 haplotype in alcoholic and non-alcoholic chronic pancreatitis: meta- and re-analyses

gastroenterology more details view paper
  • Downloaded 160 times
  • Download rankings, all-time:
    • Site-wide: 110,412
    • In gastroenterology: 126
  • Year to date:
    • Site-wide: 46,167
  • Since beginning of last month:
    • Site-wide: 102,313

AMELIE 3: Fully Automated Mendelian Patient Reanalysis at Under 1 Alert per Patient per Year

genetic and genomic medicine more details view paper
  • Downloaded 138 times
  • Download rankings, all-time:
    • Site-wide: 114,495
    • In genetic and genomic medicine: 499
  • Year to date:
    • Site-wide: 8,137
  • Since beginning of last month:
    • Site-wide: 32,369

The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis

genetic and genomic medicine more details view paper
  • Downloaded 92 times
  • Download rankings, all-time:
    • Site-wide: 122,721
    • In genetic and genomic medicine: 564
  • Year to date:
    • Site-wide: 67,489
  • Since beginning of last month:
    • Site-wide: 73,156

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