David Koeller

Professor

  • 5326 Citations
  • 35 h-Index
1977 …2019

Research output per year

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Projects

  • Research Output

    • 5326 Citations
    • 35 h-Index
    • 76 Article
    • 4 Letter
    • 4 Review article
    • 1 Comment/debate

    A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

    Undiagnosed Diseases Network, Jan 1 2019, In : Genetics in Medicine. 21, 1, p. 161-172 12 p.

    Research output: Contribution to journalArticle

  • 16 Scopus citations

    Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

    University of Washington Center for Mendelian Genomics & Undiagnosed Diseases Network, Mar 7 2019, In : American Journal of Human Genetics. 104, 3, p. 422-438 17 p.

    Research output: Contribution to journalArticle

  • Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

    Undiagnosed Diseases Network, Jun 1 2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 966-977 12 p.

    Research output: Contribution to journalArticle

  • 4 Scopus citations

    Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

    Undiagnosed Diseases Network & Care4Rare Canada Consortium, Jun 1 2019, In : Nature medicine. 25, 6, p. 911-919 9 p.

    Research output: Contribution to journalArticle

  • 31 Scopus citations

    IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells

    Undiagnosed Disease Network, Jun 2019, In : Molecular Genetics and Genomic Medicine. 7, 6, e686.

    Research output: Contribution to journalArticle

    Open Access
  • 2 Scopus citations