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Author: David R. FitzPatrick

  • ORCiD: http://orcid.org/0000-0003-4861-969X
  • Most recently observed institution: University of Exeter Medical School, Institute of Biomedical and Clinical Science, Royal Devon & Exeter Hospital

Rankings

  • All-time downloads: 21,524 (rank: 6,168 out of 509,474)
  • Categories:
    • cell biology: 684 (rank: 10,681 (tie) out of 33,608)
    • genetic and genomic medicine: 697 (rank: 1,668 (tie) out of 6,821)
    • genetics: 14,462 (rank: 901 out of 38,574)
    • genomics: 5,681 (rank: 3,441 out of 45,500)

Downloads per author, site-wide

Preprints

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

genetics more details view paper
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    • In genetics: 34 out of 5,130
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    • Site-wide: 21,714 out of 118,083
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    • Site-wide: 29,247 out of 118,083

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

genomics more details view paper
  • Downloaded 3,646 times
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    • Site-wide: 2,500 out of 118,083
    • In genomics: 318 out of 6,431
  • Year to date:
    • Site-wide: 2,311 out of 118,083
  • Since beginning of last month:
    • Site-wide: 2,782 out of 118,083

De novo mutations in regulatory elements cause neurodevelopmental disorders

genetics more details view paper
  • Downloaded 2,082 times
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    • Site-wide: 5,658 out of 118,083
    • In genetics: 298 out of 5,130
  • Year to date:
    • Site-wide: 108,360 out of 118,083
  • Since beginning of last month:
    • Site-wide: 106,820 out of 118,083

Quantifying the contribution of recessive coding variation to developmental disorders

genetics more details view paper
  • Downloaded 1,843 times
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    • In genetics: 346 out of 5,130
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    • Site-wide: 52,633 out of 118,083

Pathogenicity and selective constraint on variation near splice sites

genetics more details view paper
  • Downloaded 1,469 times
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    • In genetics: 496 out of 5,130
  • Year to date:
    • Site-wide: 35,575 out of 118,083
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    • Site-wide: 27,478 out of 118,083

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

genomics more details view paper
  • Downloaded 1,105 times
  • Download rankings, all-time:
    • Site-wide: 14,656 out of 118,083
    • In genomics: 1,627 out of 6,431
  • Year to date:
    • Site-wide: 39,782 out of 118,083
  • Since beginning of last month:
    • Site-wide: 37,588 out of 118,083

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

genomics more details view paper
  • Downloaded 930 times
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    • Site-wide: 18,920 out of 118,083
    • In genomics: 1,999 out of 6,431
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    • Site-wide: 28,532 out of 118,083

Contribution of Retrotransposition to Developmental Disorders

genetics more details view paper
  • Downloaded 762 times
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    • In genetics: 1,305 out of 5,130
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    • Site-wide: 58,576 out of 118,083

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

cell biology more details view paper
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    • In cell biology: 1,141 out of 5,415
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    • Site-wide: 49,016 out of 118,083
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    • Site-wide: 39,968 out of 118,083

The contribution of X-linked coding variation to severe developmental disorders

genetic and genomic medicine more details view paper
  • Downloaded 514 times
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    • Site-wide: 41,986 out of 118,083
    • In genetic and genomic medicine: 100 out of 480
  • Year to date:
    • Site-wide: 13,422 out of 118,083
  • Since beginning of last month:
    • Site-wide: 14,405 out of 118,083

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

genetics more details view paper
  • Downloaded 475 times
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    • Site-wide: 45,936 out of 118,083
    • In genetics: 2,290 out of 5,130
  • Year to date:
    • Site-wide: 79,821 out of 118,083
  • Since beginning of last month:
    • Site-wide: 71,709 out of 118,083

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

genetics more details view paper
  • Downloaded 365 times
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    • Site-wide: 60,302 out of 118,083
    • In genetics: 2,941 out of 5,130
  • Year to date:
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  • Since beginning of last month:
    • Site-wide: 79,716 out of 118,083

InDelible: Detection and Evaluation of Clinically-relevant Structural Variation from Exome Sequencing

genetic and genomic medicine more details view paper
  • Downloaded 183 times
  • Download rankings, all-time:
    • Site-wide: 94,235 out of 118,083
    • In genetic and genomic medicine: 297 out of 480
  • Year to date:
    • Site-wide: 46,663 out of 118,083
  • Since beginning of last month:
    • Site-wide: 5,143 out of 118,083

Functional Predictors of Causative Cis-Regulatory Mutations in Mendelian Disease

genetics more details view paper
  • Downloaded 137 times
  • Download rankings, all-time:
    • Site-wide: 102,526 out of 118,083
    • In genetics: 4,691 out of 5,130
  • Year to date:
    • Site-wide: 62,535 out of 118,083
  • Since beginning of last month:
    • Site-wide: 77,168 out of 118,083

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