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Author: F Lucy Raymond

  • Most recently observed institution: NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK. Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.

Rankings

  • All-time downloads: 6,397 (rank: 30,933 (tie) )
  • Categories:
    • genetic and genomic medicine: 1,647 (rank: 1,116 (tie) )
    • genetics: 481 (rank: 25,778 (tie) )
    • genomics: 3,854 (rank: 6,250 (tie) )
    • neuroscience: 415 (rank: 49,028 (tie) )

Downloads per author, site-wide

Preprints

Complex Structural Variants Resolved by Short-Read and Long-Read Whole Genome Sequencing in Mendelian Disorders

genomics more details view paper
  • Downloaded 2,138 times
  • Download rankings, all-time:
    • Site-wide: 6,749
    • In genomics: 749
  • Year to date:
    • Site-wide: 89,048
  • Since beginning of last month:
    • Site-wide: 91,702

Spinal muscular atrophy diagnosis and carrier screening from whole-genome sequencing data

genetic and genomic medicine more details view paper
  • Downloaded 1,105 times
  • Download rankings, all-time:
    • Site-wide: 18,079
    • In genetic and genomic medicine: 56
  • Year to date:
    • Site-wide: 18,598
  • Since beginning of last month:
    • Site-wide: 20,043

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

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

genomics more details view paper
  • Downloaded 592 times
  • Download rankings, all-time:
    • Site-wide: 42,902
    • In genomics: 3,499
  • Year to date:
    • Site-wide: 77,935
  • Since beginning of last month:
    • Site-wide: 74,973

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

genetic and genomic medicine more details view paper
  • Downloaded 542 times
  • Download rankings, all-time:
    • Site-wide: 47,898
    • In genetic and genomic medicine: 147
  • Year to date:
    • Site-wide: 20,785
  • Since beginning of last month:
    • Site-wide: 12,275

Global and local connectivity differences converge with gene expression in a neurodevelopmental disorder of known genetic origin

neuroscience more details view paper
  • Downloaded 415 times
  • Download rankings, all-time:
    • Site-wide: 64,167
    • In neuroscience: 9,710
  • Year to date:
    • Site-wide: 110,899
  • Since beginning of last month:
    • Site-wide: 104,325

Long-read sequencing resolves structural variants in SERPINC1 causing antithrombin deficiency and identifies a complex rearrangement and a retrotransposon insertion not characterized by routine diagnostic methods

genomics more details view paper
  • Downloaded 385 times
  • Download rankings, all-time:
    • Site-wide: 69,034
    • In genomics: 4,830
  • Year to date:
    • Site-wide: 25,639
  • Since beginning of last month:
    • Site-wide: 23,879

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

genetics more details view paper
  • Downloaded 317 times
  • Download rankings, all-time:
    • Site-wide: 81,410
    • In genetics: 3,702
  • Year to date:
    • Site-wide: 114,068
  • Since beginning of last month:
    • Site-wide: 110,258

Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

genetics more details view paper
  • Downloaded 164 times
  • Download rankings, all-time:
    • Site-wide: 114,500
    • In genetics: 4,957
  • Year to date:
    • Site-wide: 107,220
  • Since beginning of last month:
    • Site-wide: 98,392

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