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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: 69,110 (rank: 539 out of 396,090)
  • Categories:
    • genetics: 2,497 (rank: 6,279 (tie) out of 36,378)
    • genomics: 66,613 (rank: 103 out of 42,142)

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Preprints

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

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

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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

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

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    • In genomics: 220 out of 5,851
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Transcript expression-aware annotation improves rare variant discovery and interpretation

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Landscape of X chromosome inactivation across human tissues

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    • In genomics: 694 out of 5,851
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A quantitative model for characterizing the evolutionary history of mammalian gene expression

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

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

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

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

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    • Site-wide: 37,235 out of 92,758
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    • Site-wide: 28,924 out of 92,758

The Genetic Landscape of Diamond-Blackfan Anemia

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    • In genetics: 732 out of 4,753
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The ExAC Browser: Displaying reference data information from over 60,000 exomes

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    • In genomics: 1,585 out of 5,851
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    • Site-wide: 81,778 out of 92,758

Junction-skipping regulation in complex disease

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    • In genetics: 2,946 out of 4,753
  • Year to date:
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