Jill Waalen

Summary

Affiliation: The Scripps Research Institute
Country: USA

Publications

  1. ncbi Effect of correcting transferrin saturation for body mass index in HFE C282Y homozygotes
    Jill Waalen
    J Hepatol 44:433-4; author reply 434-5. 2006
  2. ncbi Genetic screening for low-penetrance variants in protein-coding genes
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Annu Rev Genomics Hum Genet 10:431-50. 2009
  3. ncbi Hereditary hemochromatosis: screening and management
    Jill Waalen
    The Scripps Research Institute, La Jolla, CA 92037, USA
    Curr Hematol Rep 5:34-40. 2006
  4. ncbi Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Mayo Clin Proc 77:522-30. 2002
  5. ncbi Haemoglobin and ferritin concentrations in men and women: cross sectional study
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    BMJ 325:137. 2002
  6. ncbi Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Am J Med 113:472-9. 2002
  7. ncbi Beware of multiple comparisons: a study of symptoms associated with mutations of the HFE hemochromatosis gene
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Clin Chim Acta 361:128-34. 2005
  8. ncbi Is older colder or colder older? The association of age with body temperature in 18,630 individuals
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    J Gerontol A Biol Sci Med Sci 66:487-92. 2011
  9. ncbi The penetrance of hereditary hemochromatosis
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Best Pract Res Clin Haematol 18:203-20. 2005
  10. ncbi A telephone-based intervention for increasing the use of osteoporosis medication: a randomized controlled trial
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA
    Am J Manag Care 15:e60-70. 2009

Detail Information

Publications31

  1. ncbi Effect of correcting transferrin saturation for body mass index in HFE C282Y homozygotes
    Jill Waalen
    J Hepatol 44:433-4; author reply 434-5. 2006
  2. ncbi Genetic screening for low-penetrance variants in protein-coding genes
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Annu Rev Genomics Hum Genet 10:431-50. 2009
    ..The trend toward recommending restricting use of these tests by medical experts is contrasted with the growing availability of genetic tests, including those for low-penetrance mutations, through direct-to-consumer outlets...
  3. ncbi Hereditary hemochromatosis: screening and management
    Jill Waalen
    The Scripps Research Institute, La Jolla, CA 92037, USA
    Curr Hematol Rep 5:34-40. 2006
    ..For most patients, phlebotomy is the preferred treatment option; iron chelation therapies are available for patients unable to tolerate phlebotomy...
  4. ncbi Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Mayo Clin Proc 77:522-30. 2002
    ....
  5. ncbi Haemoglobin and ferritin concentrations in men and women: cross sectional study
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    BMJ 325:137. 2002
  6. ncbi Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    Am J Med 113:472-9. 2002
    ..We examined the relation between two HFE mutations (C282Y and H63D), indicators of iron homeostasis, and the prevalence of coronary heart disease in a large population of white adults...
  7. ncbi Beware of multiple comparisons: a study of symptoms associated with mutations of the HFE hemochromatosis gene
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Clin Chim Acta 361:128-34. 2005
    ..Genetic association studies are particularly prone to this pitfall. We tested the effect of multiple comparisons in a study of symptoms among subjects genotyped for mutations of the HFE hemochromatosis gene...
  8. ncbi Is older colder or colder older? The association of age with body temperature in 18,630 individuals
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    J Gerontol A Biol Sci Med Sci 66:487-92. 2011
    ..The results are consistent with low body temperature as a biomarker for longevity. Prospective studies are needed to confirm whether this represents a survival advantage associated with lifetime low steady state temperature...
  9. ncbi The penetrance of hereditary hemochromatosis
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Best Pract Res Clin Haematol 18:203-20. 2005
    ..Studies are now focusing on other genetic and environmental factors, including alcohol, that may contribute to differential expression of C282Y homozygosity...
  10. ncbi A telephone-based intervention for increasing the use of osteoporosis medication: a randomized controlled trial
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA
    Am J Manag Care 15:e60-70. 2009
    ..To evaluate the effectiveness of a telephone-based "virtual" osteoporosis clinic in increasing the use of osteoporosis medication assessed at 1 year after receipt of a prescription...
  11. ncbi Screening for hemochromatosis by measuring ferritin levels: a more effective approach
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Blood 111:3373-6. 2008
    ....
  12. ncbi Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry
    Ernest Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, La Jolla, CA, USA
    Br J Haematol 120:887-93. 2003
    ....
  13. ncbi The anemia of ageing is not associated with increased plasma hepcidin levels
    Pauline Lee
    Department of Molecular and Experimental Medicine The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 41:252-4. 2008
    ..In the overall group there was a strong correlation between serum ferritin levels and hepcidin levels, as has been found previously...
  14. ncbi Penetrance of hemochromatosis
    Jill Waalen
    Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 29:418-32. 2002
    ..The very low clinical penetrance of the HFE mutations must be taken into account in calculating cost/benefit and risk/benefit ratios in screening for hemochromatosis...
  15. ncbi Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype
    Ernest Beutler
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 35:326-7. 2005
    ....
  16. ncbi Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans
    Ernest Beutler
    Department of Molecular and Experimental Medicine, Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 31:305-9. 2003
    ..This variant is associated with increased ferritin levels in African-Americans and may play a role in their propensity to develop iron overload...
  17. ncbi Genes and environment: novel, functional polymorphism in the human cathepsin L (CTSL1) promoter disrupts a xenobiotic response element (XRE) to alter transcription and blood pressure
    Nzali Mbewe-Campbell
    Department of Medicine, UCSD, San Deigo, CA, USA
    J Hypertens 30:1961-9. 2012
    ..Here, we searched for genetic variation across the human CTSL1 locus and probed its functional effects, especially in the proximal promoter...
  18. ncbi Integrated computational and experimental analysis of the neuroendocrine transcriptome in genetic hypertension identifies novel control points for the cardiometabolic syndrome
    Ryan S Friese
    Department of Bioengineering, University of California at San Diego School of Medicine, 9500 Gilman Drive, La Jolla, CA 92093 0838, USA
    Circ Cardiovasc Genet 5:430-40. 2012
    ....
  19. ncbi Genetic variation within a metabolic motif in the chromogranin a promoter: pleiotropic influence on cardiometabolic risk traits in twins
    Fangwen Rao
    Department of Medicine, University of California, San Diego, CA, USA
    Am J Hypertens 25:29-40. 2012
    ..Trait heritability (h(2)) and shared genetic determination among traits (pleiotropy, genetic covariance, ρ(G)) were estimated by variance components in twin pairs...
  20. ncbi Erythropoietin, GDF15, IL6, hepcidin and testosterone levels in a large cohort of elderly individuals with anaemia of known and unknown cause
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Eur J Haematol 87:107-16. 2011
    ..Our data indicate that an impaired EPO response, in the absence of evidence for iron restriction or inflammation, is characteristic of AUE...
  21. ncbi Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity
    Pauline Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Blood Cells Mol Dis 39:353-60. 2007
    ..We also investigated the possibility that chitotriosidase deficiency was associated with tuberculosis or with atopy, including allergic rhinitis, contact dermatitis, food or drug allergies and asthma...
  22. ncbi Biomarkers of endocannabinoid system activation in severe obesity
    Jack C Sipe
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California, United States of America
    PLoS ONE 5:e8792. 2010
    ....
  23. ncbi Dopamine D1 receptor (DRD1) genetic polymorphism: pleiotropic effects on heritable renal traits
    Maple M Fung
    Department of Medicine, Veterans Affairs San Diego Healthcare System and University of California at San Diego, La Jolla, California 92093 0838, USA
    Kidney Int 76:1070-80. 2009
    ..Because the -94A allele is common and may reduce glomerular capillary hydrostatic pressure, G-94A profiling may aid in predicting survival of renal function in patients with progressive renal disease...
  24. ncbi Adipose tissue as a modulator of clinical inflammation: does obesity reduce the prevalence of rheumatoid arthritis?
    Tamas Bartfai
    Department of Molecular and Integrative Neurosciences and Department of Molecular Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    J Rheumatol 34:488-92. 2007
    ..We wished to determine if extremely obese individuals were overrepresented among a group of patients with RA...
  25. ncbi The definition of anemia: what is the lower limit of normal of the blood hemoglobin concentration?
    Ernest Beutler
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 N Torrey Pines Rd, La Jolla, CA 92037, USA
    Blood 107:1747-50. 2006
    ..How likely is it that the patient's hemoglobin value lies below the normal distribution; that is, "the lower limit"?..
  26. ncbi Human dopamine β-hydroxylase promoter variant alters transcription in chromaffin cells, enzyme secretion, and blood pressure
    Yuqing Chen
    Department of Medicine, University of California at San Diego, La Jolla, USA
    Am J Hypertens 24:24-32. 2011
    ..Here, we characterized a DBH promoter polymorphism (C-2073T; rs1989787; minor allele frequency ~16%) that influences not only gene transcription but also enzyme secretion and blood pressure (BP) in vivo...
  27. ncbi Screening strategies in C282Y-linked haemochromatosis
    Ernest Beutler
    Br J Haematol 120:1089-90. 2003
  28. ncbi Response to Moirand et al.-"HFE based re-evaluation of heterozygous hemochromatosis"
    Ernest Beutler
    Am J Med Genet A 124:218-9. 2004
  29. ncbi No age-related decrease in frequency of heterozygotes for the HFE C282Y haemochromatosis mutation
    Jill Waalen
    J Hepatol 40:1044; author reply 1044-5. 2004
  30. ncbi Iron-overload-related disease in HFE hereditary hemochromatosis
    Jill Waalen
    N Engl J Med 358:2293-4; author reply 2294-5. 2008
  31. ncbi Metastatic carcinomatous cirrhosis and hepatic hemosiderosis
    Jill Waalen
    Arch Pathol Lab Med 126:128. 2002