Kornelia Neveling

Ontology type: schema:Person     

Person Info





Publications in SciGraph latest 50 shown

  • 2018-12 Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation in SCIENTIFIC REPORTS
  • 2016-02 Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity in NATURE GENETICS
  • 2015-02 Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015 Fanconi Anemia in ENCYCLOPEDIA OF CANCER
  • 2014-06 Einführung in die Grundlagen der Hochdurchsatzsequenzierung in MEDIZINISCHE GENETIK
  • 2013-12 Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-11 PW03-007 - NLRP3 genetic variants in Schnitzler’s syndrome in PEDIATRIC RHEUMATOLOGY
  • 2013-11 OR11-002 - Mutations in MVK cause non-syndromic RP in PEDIATRIC RHEUMATOLOGY
  • 2012-06 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome in NATURE GENETICS
  • 2012-03 Exom-Sequenzierung zur Identifizierung von Krankheitsgenen in MEDIZINISCHE GENETIK
  • 2012 Identification and Analysis of Inherited Retinal Disease Genes in RETINAL DEGENERATION
  • 2011-12 Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.) in AMB EXPRESS
  • 2011-04 Exploring the link between MORF4L1 and risk of breast cancer in BREAST CANCER RESEARCH
  • 2011 Fanconi Anemia in ENCYCLOPEDIA OF CANCER
  • 2010-12 Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents in MOLECULAR CANCER
  • 2010-05 Mutation of the RAD51C gene in a Fanconi anemia–like disorder in NATURE GENETICS
  • 2010-05 Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene in NATURE GENETICS
  • 2009 Fanconi Anemia in ENCYCLOPEDIA OF CANCER
  • 2007-10 Genetic instability syndromes with progeroid features in ZEITSCHRIFT FÜR GERONTOLOGIE UND GERIATRIE
  • 2007-06 FANCI is a second monoubiquitinated member of the Fanconi anemia pathway in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 2007-02 Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer in NATURE GENETICS
  • 2006-04 Exclusion/confirmation of Ataxia-telangiectasia via cell-cycle testing in EUROPEAN JOURNAL OF PEDIATRICS
  • 2005-11 Addendum: The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia in NATURE GENETICS
  • 2005-09 The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia in NATURE GENETICS
  • 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": "https://www.grid.ac/institutes/grid.10417.33", 
              "type": "Organization"
            "isCurrent": true, 
            "type": "OrganizationRole"
            "id": "https://www.grid.ac/institutes/grid.5590.9", 
            "type": "Organization"
            "id": "https://www.grid.ac/institutes/grid.8379.5", 
            "type": "Organization"
        "familyName": "Neveling", 
        "givenName": "Kornelia", 
        "id": "sg:person.01253132563.17", 
        "sameAs": [
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T14:45", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        "sdSource": "s3://com-uberresearch-data-dimensions-researchers-20181010/20181011/dim_researchers/base/researchers_501.json", 
        "type": "Person"

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


    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.01253132563.17'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.01253132563.17'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.01253132563.17'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.01253132563.17'


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