David Koeller

Professor

  • 4334 Citations
  • 29 h-Index
1977 …2019
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Fingerprint 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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Glutaryl-CoA Dehydrogenase Medicine & Life Sciences
Carnitine O-Palmitoyltransferase Medicine & Life Sciences
Lysine Medicine & Life Sciences
Iron Medicine & Life Sciences
Genes Medicine & Life Sciences
Corpus Striatum Medicine & Life Sciences
Transferrin Receptors Medicine & Life Sciences
Messenger RNA Medicine & Life Sciences

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Projects 1977 2018

Metabolomics
Rare Diseases
Northwestern United States
Glycomics
Metabolic Diseases
Carnitine O-Palmitoyltransferase
Infant Mortality
Fatty Acids
Newborn Infant
Fasting
Glutaryl-CoA Dehydrogenase
Poisons
Liver
Inborn Errors Amino Acid Metabolism
Complementary DNA
Glutaryl-CoA Dehydrogenase
Alleles
Movement Disorders
Embryonic Stem Cells
Organism Cloning

Research Output 1986 2019

  • 4334 Citations
  • 29 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

Zebrafish
Coxa Vara
Phenotype
Tooth Root
Recombinational DNA Repair

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

Neurocutaneous Syndromes
Blood Vessels
Mutation
Nervous System Malformations
Skin

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

RNA Sequence Analysis
Rare Diseases
Transcriptome
Blood
Genes

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

Undiagnosed Disease Network, Jun 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 6, e686.

Research output: Contribution to journalArticle

Open Access
Fibroblast Growth Factors
Immunoglobulin G
Carrier Proteins
T-Lymphocytes
Genes

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

Albinism
Hypopigmentation
Fibroblasts
Vacuoles
Osteopetrosis