Jón J. Jónsson

A community-driven global reconstruction of human metabolism

Ines Thiele, Neil Swainston, Ronan M. T. Fleming et al. · Nature Biotechnology · 2013 · 1K citations · Full text

Metabolic Network, Metabolism, Metabolomics +4

Large-scale whole-genome sequencing of the Icelandic population

Daníel F. Guðbjartsson, Hannes Helgason, Sigurjón A. Guðjónsson et al. · Nature Genetics · 2015 · 810 citations

Icelandic Population, Phylogenetics, Natural Sciences +8

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

Carsten Bergmann, Jennifer von Bothmer, Nadina Ortiz Brüchle et al. · Journal of the American Society of Nephrology · 2011 · 229 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +26

FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation

Monica Piccini, Francesca Vitelli, Mirella Bruttini et al. · Genomics · 1998 · 127 citations · Full text