David Koeller

Professor

  • 4530 Citations
  • 31 h-Index
1977 …2019

Research output per year

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Projects

  • Research Output

    • 4530 Citations
    • 31 h-Index
    • 82 Article
    • 1 Comment/debate
    • 1 Letter
    • 1 Review article

    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

  • 2 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 journalLetter

  • 7 Scopus citations

    Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

    Undiagnosed Diseases Network, Jun 6 2019, In : American Journal of Human Genetics. 104, 6, p. 1127-1138 12 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations