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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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
Undiagnosed Diseases Network, Jan 15 2020, In: Biological Psychiatry. 87, 2, p. 100-112 13 p.Research output: Contribution to journal › Article › peer-review
12 Scopus citations -
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
25 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
4 Scopus citations -
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
Undiagnosed Diseases Network, Oct 3 2019, In: American Journal of Human Genetics. 105, 4, p. 854-868 15 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
Undiagnosed Diseases Network, Aug 1 2019, In: American Journal of Human Genetics. 105, 2, p. 413-424 12 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations