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Author: Beryl B. Cummings

  • ORCiD: http://orcid.org/0000-0001-6346-1646
  • Most recently observed institution: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston MA, USA. Broad Institute of MIT and Harvard, Cambridge MA, USA

Rankings

  • All-time downloads: 70,735 (rank: 576 out of 426,130)
  • Categories:
    • genetics: 2,596 (rank: 6,275 (tie) out of 38,003)
    • genomics: 68,139 (rank: 105 out of 44,631)

Downloads per author, site-wide

Preprints

The mutational constraint spectrum quantified from variation in 141,456 humans

genomics more details view paper
  • Downloaded 23,222 times
  • Download rankings, all-time:
    • Site-wide: 71 out of 100,883
    • In genomics: 9 out of 6,254
  • Year to date:
    • Site-wide: 150 out of 100,883
  • Since beginning of last month:
    • Site-wide: 327 out of 100,883

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

genomics more details view paper
  • Downloaded 21,837 times
  • Download rankings, all-time:
    • Site-wide: 77 out of 100,883
    • In genomics: 10 out of 6,254
  • Year to date:
    • Site-wide: 18,607 out of 100,883
  • Since beginning of last month:
    • Site-wide: 23,051 out of 100,883

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

genomics more details view paper
  • Downloaded 5,400 times
  • Download rankings, all-time:
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    • In genomics: 150 out of 6,254
  • Year to date:
    • Site-wide: 20,347 out of 100,883
  • Since beginning of last month:
    • Site-wide: 19,796 out of 100,883

Evaluating potential drug targets through human loss-of-function genetic variation

genomics more details view paper
  • Downloaded 4,425 times
  • Download rankings, all-time:
    • Site-wide: 1,096 out of 100,883
    • In genomics: 219 out of 6,254
  • Year to date:
    • Site-wide: 3,533 out of 100,883
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    • Site-wide: 7,888 out of 100,883

Transcript expression-aware annotation improves rare variant discovery and interpretation

genomics more details view paper
  • Downloaded 3,627 times
  • Download rankings, all-time:
    • Site-wide: 1,536 out of 100,883
    • In genomics: 313 out of 6,254
  • Year to date:
    • Site-wide: 2,101 out of 100,883
  • Since beginning of last month:
    • Site-wide: 6,193 out of 100,883

Landscape of X chromosome inactivation across human tissues

genomics more details view paper
  • Downloaded 2,002 times
  • Download rankings, all-time:
    • Site-wide: 4,193 out of 100,883
    • In genomics: 712 out of 6,254
  • Year to date:
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  • Since beginning of last month:
    • Site-wide: 19,283 out of 100,883

A quantitative model for characterizing the evolutionary history of mammalian gene expression

genomics more details view paper
  • Downloaded 1,883 times
  • Download rankings, all-time:
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    • In genomics: 761 out of 6,254
  • Year to date:
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    • Site-wide: 35,385 out of 100,883

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

genomics more details view paper
  • Downloaded 1,867 times
  • Download rankings, all-time:
    • Site-wide: 4,742 out of 100,883
    • In genomics: 770 out of 6,254
  • Year to date:
    • Site-wide: 10,318 out of 100,883
  • Since beginning of last month:
    • Site-wide: 23,390 out of 100,883

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

genomics more details view paper
  • Downloaded 1,492 times
  • Download rankings, all-time:
    • Site-wide: 6,900 out of 100,883
    • In genomics: 1,063 out of 6,254
  • Year to date:
    • Site-wide: 11,533 out of 100,883
  • Since beginning of last month:
    • Site-wide: 58,082 out of 100,883

Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients

genomics more details view paper
  • Downloaded 1,338 times
  • Download rankings, all-time:
    • Site-wide: 8,304 out of 100,883
    • In genomics: 1,248 out of 6,254
  • Year to date:
    • Site-wide: 26,777 out of 100,883
  • Since beginning of last month:
    • Site-wide: 45,749 out of 100,883

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

genetics more details view paper
  • Downloaded 1,174 times
  • Download rankings, all-time:
    • Site-wide: 10,341 out of 100,883
    • In genetics: 694 out of 5,020
  • Year to date:
    • Site-wide: 33,444 out of 100,883
  • Since beginning of last month:
    • Site-wide: 19,001 out of 100,883

The Genetic Landscape of Diamond-Blackfan Anemia

genetics more details view paper
  • Downloaded 1,089 times
  • Download rankings, all-time:
    • Site-wide: 11,673 out of 100,883
    • In genetics: 772 out of 5,020
  • Year to date:
    • Site-wide: 51,020 out of 100,883
  • Since beginning of last month:
    • Site-wide: 46,536 out of 100,883

The ExAC Browser: Displaying reference data information from over 60,000 exomes

genomics more details view paper
  • Downloaded 1,046 times
  • Download rankings, all-time:
    • Site-wide: 12,464 out of 100,883
    • In genomics: 1,688 out of 6,254
  • Year to date:
    • Site-wide: 95,270 out of 100,883
  • Since beginning of last month:
    • Site-wide: 90,146 out of 100,883

Junction-skipping regulation in complex disease

genetics more details view paper
  • Downloaded 333 times
  • Download rankings, all-time:
    • Site-wide: 56,112 out of 100,883
    • In genetics: 3,083 out of 5,020
  • Year to date:
    • Site-wide: 60,942 out of 100,883
  • Since beginning of last month:
    • Site-wide: 76,665 out of 100,883

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