Beryl B Cummings


Ontology type: schema:Person     


Person Info

NAME

Beryl B

SURNAME

Cummings

Publications in SciGraph latest 50 shown

  • 2022-08-03 Transcriptome variation in human tissues revealed by long-read sequencing in NATURE
  • 2022-02-23 TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A in NATURE
  • 2022-02-23 Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes in COMMUNICATIONS BIOLOGY
  • 2021-08-09 Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2021-02-03 Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2021-02-03 Author Correction: Transcript expression-aware annotation improves rare variant interpretation in NATURE
  • 2021-02-03 Author Correction: Evaluating drug targets through human loss-of-function genetic variation in NATURE
  • 2021-02-02 Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes in NATURE COMMUNICATIONS
  • 2021-01-22 Author Correction: The effect of LRRK2 loss-of-function variants in humans in NATURE MEDICINE
  • 2020-08-29 Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2020-05-27 Evaluating drug targets through human loss-of-function genetic variation in NATURE
  • 2020-05-27 The mutational constraint spectrum quantified from variation in 141,456 humans in NATURE
  • 2020-05-27 Transcript expression-aware annotation improves rare variant interpretation in NATURE
  • 2020-05-27 Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes in NATURE COMMUNICATIONS
  • 2020-05-27 The effect of LRRK2 loss-of-function variants in humans in NATURE MEDICINE
  • 2019-04-25 Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-04-09 Effects of 3D culturing conditions on the transcriptomic profile of stem-cell-derived neurons in NATURE BIOMEDICAL ENGINEERING
  • 2018-03-08 Correction: Corrigendum: Landscape of X chromosome inactivation across human tissues in NATURE
  • 2017-10-12 Genetic effects on gene expression across human tissues in NATURE
  • 2017-10-12 Landscape of X chromosome inactivation across human tissues in NATURE
  • 2017-10-12 Dynamic landscape and regulation of RNA editing in mammals in NATURE
  • 2017-10-12 The impact of rare variation on gene expression across tissues in NATURE
  • 2016-08-17 Analysis of protein-coding genetic variation in 60,706 humans in NATURE
  • 2016-08-09 A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis in NATURE COMMUNICATIONS
  • JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "affiliation": [
          {
            "affiliation": {
              "id": "http://www.grid.ac/institutes/grid.66859.34", 
              "type": "Organization"
            }, 
            "isCurrent": true, 
            "type": "OrganizationRole"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.38142.3c", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.32224.35", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.413973.b", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.511646.1", 
            "type": "Organization"
          }
        ], 
        "familyName": "Cummings", 
        "givenName": "Beryl B", 
        "id": "sg:person.013553711521.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013553711521.39"
        ], 
        "sdDataset": "persons", 
        "sdDatePublished": "2022-12-01T07:13", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20221201/entities/gbq_results/person/person_790.jsonl", 
        "type": "Person"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/person.013553711521.39'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.013553711521.39'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.013553711521.39'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.013553711521.39'


     




    Preview window. Press ESC to close (or click here)


    ...