Jón J. Jónsson
National University Hospital of Iceland(IS)
Publications by Year
Research Areas
Genomics and Rare Diseases, BRCA gene mutations in cancer, Genomic variations and chromosomal abnormalities, DNA and Nucleic Acid Chemistry, Prenatal Screening and Diagnostics
Most-Cited Works
- → A community-driven global reconstruction of human metabolism(2013)1,060 cited
- → Large-scale whole-genome sequencing of the Icelandic population(2015)827 cited
- → Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease(2011)231 cited
- → FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation(1998)127 cited
- → Enhanced interpretation of newborn screening results without analyte cutoff values(2012)123 cited
- → Membrane transporters in a human genome-scale metabolic knowledgebase and their implications for disease(2014)104 cited
- → A compendium of inborn errors of metabolism mapped onto the human metabolic network