Genetic Testing and Molecular Biomarkers


Publication Venue For

  • Estimates of West African Ancestry in African Americans Using Alleles of Iron-Related Genes HJV, SLC40A1, and TFR2.  26:96-102. 2022
  • Estimates of European American Ancestry in African Americans Using HFE p.C282Y.  24:578-583. 2020
  • Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.  14:505-510. 2010
  • Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.  14:543-550. 2010
  • Barriers to genetic testing among persons at risk for alpha-1 antitrypsin deficiency.  12:501-505. 2008
  • Screening for hemochromatosis and iron overload: Satisfaction with results notification and understanding of mailed results in unaffected participants of the HEIRS study.  12:491-500. 2008
  • HFE C282Y homozygotes aged 25-29 years at HEIRS study initial screening.  11:269-275. 2007
  • Psychosocial impact of genetic testing for hemochromatosis in the HEIRS Study: A comparison of participants recruited in Canada and in the United States.  11:55-64. 2007
  • Validity and utility of a LRRK2 G2019S mutation test for the diagnosis of Parkinson's disease.  10:221-227. 2006
  • Predictors of belief that genetic test information about hemochromatosis should be shared with family members.  10:50-59. 2006
  • Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study.  9:231-241. 2005
  • Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats.  6:217-220. 2002
  • A primer for predicting risk of disease in HFE-linked hemochromatosis.  5:311-316. 2001
  • A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250stop mutation in the TFR2 gene.  5:131-134. 2001
  • Carrier screening for cystic fibrosis in a prenatal setting.  5:117-125. 2001
  • HFE genotype frequencies in consecutive reference laboratory specimens: Comparisons among referral sources and association with initial diagnosis.  5:299-306. 2001
  • Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: Predictions from a model based on national, racial, and ethnic group composition in central alabama.  4:199-206. 2000
  • International Standard Serial Number (issn)

  • 1090-6576
  • 1945-0265
  • Electronic International Standard Serial Number (eissn)

  • 1945-0257