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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Ernest Beutler

The Scripps Research Institute

La Jolla

California 92037



Name/email consistency: high



  • The Scripps Research Institute, La Jolla, California 92037, USA. 1998 - 2007
  • Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, California 92037, USA. 1996 - 2007
  • Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, USA. 1997 - 2007
  • The Scripps Institute, USA. 2001


  1. Glucose-6-phosphate dehydrogenase deficiency and antimalarial drug development. Beutler, E., Duparc, S. Am. J. Trop. Med. Hyg. (2007) [Pubmed]
  2. Hepcidin mimetics from microorganisms? A possible explanation for the effect of Helicobacter pylori on iron homeostasis. Beutler, E. Blood Cells Mol. Dis. (2007) [Pubmed]
  3. PGK deficiency. Beutler, E. Br. J. Haematol. (2007) [Pubmed]
  4. Iron storage disease: facts, fiction and progress. Beutler, E. Blood Cells Mol. Dis. (2007) [Pubmed]
  5. The definition of anemia: what is the lower limit of normal of the blood hemoglobin concentration?. Beutler, E., Waalen, J. Blood (2006) [Pubmed]
  6. Hemochromatosis: genetics and pathophysiology. Beutler, E. Annu. Rev. Med. (2006) [Pubmed]
  7. Lysosomal storage diseases: natural history and ethical and economic aspects. Beutler, E. Mol. Genet. Metab. (2006) [Pubmed]
  8. Gaucher disease: multiple lessons from a single gene disorder. Beutler, E. Acta. Paediatr. Suppl (2006) [Pubmed]
  9. Helicobacter pylori infection and HFE hemochromatosis. Beutler, E., Gelbart, T. Blood Cells Mol. Dis. (2006) [Pubmed]
  10. Hematologic differences between African-Americans and whites: the roles of iron deficiency and alpha-thalassemia on hemoglobin levels and mean corpuscular volume. Beutler, E., West, C. Blood (2005) [Pubmed]
  11. Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype. Beutler, E., Waalen, J., Gelbart, T. Blood Cells Mol. Dis. (2005) [Pubmed]
  12. Hematologically important mutations: Gaucher disease. Beutler, E., Gelbart, T., Scott, C.R. Blood Cells Mol. Dis. (2005) [Pubmed]
  13. Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease. Beutler, E., Beutler, L., West, C. J. Lab. Clin. Med. (2004) [Pubmed]
  14. The mitochondrial nt 16189 polymorphism and hereditary hemochromatosis. Beutler, E., Beutler, L., Lee, P.L., Barton, J.C. Blood Cells Mol. Dis. (2004) [Pubmed]
  15. Enzyme replacement in Gaucher disease. Beutler, E. PLoS Med. (2004) [Pubmed]
  16. Cell biology. "Pumping" iron: the proteins. Beutler, E. Science (2004) [Pubmed]
  17. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Beutler, E. Blood (2003) [Pubmed]
  18. Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. Beutler, E., Barton, J.C., Felitti, V.J., Gelbart, T., West, C., Lee, P.L., Waalen, J., Vulpe, C. Blood Cells Mol. Dis. (2003) [Pubmed]
  19. Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Beutler, E., Felitti, V.J., Koziol, J.A., Ho, N.J., Gelbart, T. Lancet (2002) [Pubmed]
  20. A previously undescribed nonsense mutation of the HFE gene. Beutler, E., Griffin, M.J., Gelbart, T., West, C. Clin. Genet. (2002) [Pubmed]
  21. Relationship of body iron stores to levels of serum ferritin, serum iron, unsaturated iron binding capacity and transferrin saturation in patients with iron storage disease. Beutler, E., Felitti, V., Ho, N.J., Gelbart, T. Acta Haematol. (2002) [Pubmed]
  22. Hematologically important mutations: glucose-6-phosphate dehydrogenase. Beutler, E., Vulliamy, T.J. Blood Cells Mol. Dis. (2002) [Pubmed]
  23. Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome. Beutler, E., Gelbart, T., Miller, W. Blood Cells Mol. Dis. (2002) [Pubmed]
  24. Polymorphisms in the 5' flanking region of the HFE gene: linkage disequilibrium and relationship to iron homeostasis. Beutler, E., West, C. Blood Cells Mol. Dis. (2002) [Pubmed]
  25. A chimeric mouse model of Gaucher disease. Beutler, E., West, C., Torbett, B.E., Deguchi, H. Mol. Med. (2002) [Pubmed]
  26. Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype. Beutler, E., West, C. Isr. Med. Assoc. J. (2002) [Pubmed]
  27. History of iron in medicine. Beutler, E. Blood Cells Mol. Dis. (2002) [Pubmed]
  28. Genetics of iron storage and hemochromatosis. Beutler, E., Felitti, V., Gelbart, T., Ho, N. Drug Metab. Dispos. (2001) [Pubmed]
  29. Commentary: mutations of transferrin receptor 2 (Trf-2) and iron storage disease. Beutler, E. Blood Cells Mol. Dis. (2001) [Pubmed]
  30. The hHFE gene of browsing and grazing rhinoceroses: a possible site of adaptation to a low-iron diet. Beutler, E., West, C., Speir, J.A., Wilson, I.A., Worley, M. Blood Cells Mol. Dis. (2001) [Pubmed]
  31. Discrepancies between genotype and phenotype in hematology: an important frontier. Beutler, E. Blood (2001) [Pubmed]
  32. The Cline affair. Beutler, E. Mol. Ther. (2001) [Pubmed]
  33. Synergy between TLR2 and TLR4: a safety mechanism. Beutler, E., Gelbart, T., West, C. Blood Cells Mol. Dis. (2001) [Pubmed]
  34. A common intron 3 mutation (IVS3 -48c-->g) leads to misdiagnosis of the c.845G-->A (C282Y) HFE gene mutation. Beutler, E., Gelbart, T. Blood Cells Mol. Dis. (2000) [Pubmed]
  35. Introduction: Hemochromatosis population screening. Beutler, E. Genet. Test. (2000) [Pubmed]
  36. Large-scale screening for HFE mutations: methodology and cost. Beutler, E., Gelbart, T. Genet. Test. (2000) [Pubmed]
  37. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Beutler, E., Felitti, V., Gelbart, T., Ho, N. Ann. Intern. Med. (2000) [Pubmed]
  38. Molecular characterization of a case of atransferrinemia. Beutler, E., Gelbart, T., Lee, P., Trevino, R., Fernandez, M.A., Fairbanks, V.F. Blood (2000) [Pubmed]
  39. Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications. Beutler, E., Liebman, H., Gelbart, T., Stefanski, E. Acta Haematol. (2000) [Pubmed]
  40. Gene therapy. Beutler, E. Biol. Blood Marrow Transplant. (1999) [Pubmed]
  41. Commentary on HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors by Naveen Arya, Subrata Chakrabrati, Robert A. Hegele, Paul C. Adams. Beutler, E., Felitti, V.J., Ho, N.J., Gelbart, T. Blood Cells Mol. Dis. (1999) [Pubmed]
  42. Hematologically important mutations: Gaucher disease. Beutler, E., Gelbart, T. Blood Cells Mol. Dis. (1998) [Pubmed]
  43. Commentary: the natural history of Gaucher disease. Beutler, E. Blood Cells Mol. Dis. (1998) [Pubmed]
  44. Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?. Beutler, E., Gelbart, T., Demina, A. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  45. Susumu Ohno: the father of X-inactivation. Beutler, E. Cytogenet. Cell Genet. (1998) [Pubmed]
  46. Hematologically important mutations: Gaucher disease. Beutler, E., Gelbart, T. Blood Cells Mol. Dis. (1997) [Pubmed]
  47. HLA-H mutations in the Ashkenazi Jewish population. Beutler, E., Gelbart, T. Blood Cells Mol. Dis. (1997) [Pubmed]
  48. HLA-H and associated proteins in patients with hemochromatosis. Beutler, E., West, C., Gelbart, T. Mol. Med. (1997) [Pubmed]
  49. New diallelic markers in the HLA region of chromosome 6. Beutler, E., West, C. Blood Cells Mol. Dis. (1997) [Pubmed]
  50. Gaucher disease phenotypes outflanked?. Beutler, E. Genome Res. (1997) [Pubmed]
  51. Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolytic anemia (HNSHA). Beutler, E., West, C., Britton, H.A., Harris, J., Forman, L. Blood Cells Mol. Dis. (1997) [Pubmed]
  52. Hematologically important mutations: glucose-6-phosphate dehydrogenase. Beutler, E., Vulliamy, T., Luzzatto, L. Blood Cells Mol. Dis. (1996) [Pubmed]
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