Projects per year
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Dive into the research topics where David Koeller is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Projects
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Diet and the CPT1A arctic variant: Impact on the Health of Alaska Native Children
Project: Research project
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Undiagnosed Diseases Network Metabolomics Core
Metz, T. & Koeller, D.
9/20/15 → 7/31/18
Project: Research project
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Impact of the P479L Variant in CPT1A on Infant Mortality in Alaska
8/1/10 → 6/30/14
Project: Research project
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Research output
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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 journal › Article › peer-review
22 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 journal › Article › peer-review
3 Scopus citations -
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 journal › Article › peer-review
5 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 journal › Article › peer-review
48 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 journal › Article › peer-review
Open Access3 Scopus citations