Projects per year
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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
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Projects 1977 2018
Diet and the CPT1A arctic variant: Impact on the Health of Alaska Native Children
Project: Research project
Undiagnosed Diseases Network Metabolomics Core
Metz, T. & Koeller, D.
9/20/15 → 7/31/18
Project: Research project
Metabolomics
Rare Diseases
Northwestern United States
Glycomics
Metabolic Diseases
Impact of the P479L Variant in CPT1A on Infant Mortality in Alaska
8/1/10 → 6/30/14
Project: Research project
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
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
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 journal › Article
Neurocutaneous Syndromes
Blood Vessels
Mutation
Nervous System Malformations
Skin
1
Citation
(Scopus)
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 › Letter
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 journal › Article
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 journal › Article
Albinism
Hypopigmentation
Fibroblasts
Vacuoles
Osteopetrosis