Estimated analytic validity of HFE C282Y mutation testing in population screening: The potential value of confirmatory testing

A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis

John N. Feder, Andreas Gnirke, Zenta Tsuchihashi et al. · Nature Genetics · 1996 · 3.7K citations

Life Sciences, Genetics, Molecular Genetics +12

Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA

Ernest Beutler, Vincent J. Felitti, James A. Koziol et al. · The Lancet · 2002 · 831 citations

Life Sciences, Genetics, Molecular Genetics +7

Mutation Analysis in Hereditary Hemochromatosis

Ernest Beutler, Terri Gelbart, Carol West et al. · Blood Cells Molecules and Diseases · 1996 · 427 citations

Life Sciences, Genetics, Molecular Genetics +14

The Effect of <i>HFE</i> Genotypes on Measurements of Iron Overload in Patients Attending a Health Appraisal Clinic

Ernest Beutler · Annals of Internal Medicine · 2000 · 280 citations

Medicine, Genetics, Hematology +17

Genetic testing and quality control in diagnostic laboratories

Elisabeth Dequeker, Jean‐Jacques Cassiman · Nature Genetics · 2000 · 89 citations

Medicine, Genetics, Molecular Genetics +16