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Author: Robert W Taylor

  • Most recently observed institution: Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.

Rankings

  • All-time downloads: 4,907 (rank: 48,527 (tie) )
  • Categories:
    • bioinformatics: 285 (rank: 35,827 (tie) )
    • genetic and genomic medicine: 647 (rank: 5,001 (tie) )
    • genetics: 3,975 (rank: 4,626 )

Downloads per author, site-wide

Preprints

Genetic diagnosis of Mendelian disorders via RNA sequencing

genetics more details view paper
  • Downloaded 2,371 times
  • Download rankings, all-time:
    • Site-wide: 6,820
    • In genetics: 301
  • Year to date:
    • Site-wide: 80,107
  • Since beginning of last month:
    • Site-wide: None

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

genetics more details view paper
  • Downloaded 639 times
  • Download rankings, all-time:
    • Site-wide: 45,346
    • In genetics: 2,032
  • Year to date:
    • Site-wide: 101,912
  • Since beginning of last month:
    • Site-wide: 92,202

A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault syndrome characterized by hearing loss and primary ovarian insufficiency

genetics more details view paper
  • Downloaded 545 times
  • Download rankings, all-time:
    • Site-wide: 55,225
    • In genetics: 2,440
  • Year to date:
    • Site-wide: 98,238
  • Since beginning of last month:
    • Site-wide: 60,855

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

genetic and genomic medicine more details view paper
  • Downloaded 424 times
  • Download rankings, all-time:
    • Site-wide: 72,691
    • In genetic and genomic medicine: 300
  • Year to date:
    • Site-wide: 10,884
  • Since beginning of last month:
    • Site-wide: 2,027

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

genetics more details view paper
  • Downloaded 420 times
  • Download rankings, all-time:
    • Site-wide: 73,502
    • In genetics: 3,227
  • Year to date:
    • Site-wide: 105,220
  • Since beginning of last month:
    • Site-wide: None

Detection of pathogenic splicing events from RNA-sequencing data using dasper

bioinformatics more details view paper
  • Downloaded 285 times
  • Download rankings, all-time:
    • Site-wide: 101,165
    • In bioinformatics: 8,737
  • Year to date:
    • Site-wide: 19,067
  • Since beginning of last month:
    • Site-wide: 7,547

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

genetic and genomic medicine more details view paper
  • Downloaded 223 times
  • Download rankings, all-time:
    • Site-wide: 116,248
    • In genetic and genomic medicine: 602
  • Year to date:
    • Site-wide: 26,480
  • Since beginning of last month:
    • Site-wide: 114,980

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