Our Mission...
is to improve the quality of health service delivery and reduce the burden of disease and disability in the United States and elsewhere by carrying out broadly based research and education activities involving the translation of innovative medical research into practice





Bradley LA, Kloza EM, Haddow PK, Beauregard LJ, Johnson JL, Haddow JE: A genetic history questionnaire-based system in primary prenatal care to screen for selected fetal disorders. Genet Test, 11:291-295, 2007.

Craig WY, Haddow JE, Palomaki GE, Roberson M: Major fetal abnormalities associated with positive screening tests for Smith-Lemli-Opitz syndrome (SLOS). Prenat Diagn, 27:409-414, 2007.

Gudgeon JM, McClain MR, Palomaki GE, Williams MS: Rapid ACCE: Experience with a rapid and structured approach for evaluating gene-based testing. Genet Med, 9:473-478, 2007.

Haddow JE, Palomaki GE, Wapner RJ: First- and second-trimester screening for open neural tube defects and Down syndrome. Chapter 28. In: Clinical Obstetrics: the Fetus & Mother Handbook. Third Edition. Reece EA, Hobbins JC, (eds), Blackwell Publishing Ltd, pp. 485-503, 2007.

Haddow JE, McClain MR, Palomaki GE, Hollowell JG: Urine iodine measurements, creatinine adjustment and thyroid deficiency in an adult United States population. J Clin Endocrinol Metab, 92:1019-1022, 2007.

Kavsak PA, Newman AM, Lustig V, MacRae AR, Palomaki GE, Ko DT, Tu JV, Jaffe AS: Long-term health outcomes associated with detectable troponin I concentrations. Clin Chem, 53:220-227, 2007.

Kavsak PA, MacRae AR, Newman AM, Lustig V, Palomaki GE, Ko DT, Tu JV, Jaffe AS: Elevated C-reactive protein in acute coronary syndrome presentation is an independent predictor of long-term mortality and heart failure. Clin Biochem, 40:326-329, 2007.

Kavsak PA, MacRae AR, Newman AM, Lustig V, Palomaki GE, Ko DT, Tu JV, Jaffe AS: Effects of contemporary troponin assay sensitivity on the utility of the early markers myoglobin and CKMB isoforms in evaluating patients with possible acute myocardial infarction. Clin Chim Acta, 380:213-216, 2007.

Kavsak PA, MacRae AR, Newman AM, Lustig V, Palomaki GE, Ko DT, Tu JV, Jaffe AS: Authors' response to Apple editorial. Clin Chim Acta, 380:245-246, 2007.

Kavsak PA, Ko DT, Newman AM, Palomaki GE, Lustig V, MacRae AR, Jaffe AS: Risk stratification for heart failure and death in an acute coronary syndrome population using inflammatory cytokines and N-terminal Pro-Brain Natriuretic Peptide. Clin Chem, 53:2112-2118, 2007.

Knight GJ: Prenatal screening for neural tube defects and Down syndrome. ASCP Check Sample. Clinical Chemistry, Vol. 4, No. 3, [Clinical Chemistry No. CC-07 (CC-361)], pp. 29-41, 2007.

McClain MR, Palomaki GE, Haddow JE: How reliable are BRCA1/2 mutation estimates? Cancer Res, 67:5057, 2007.

Palomaki GE, Lambert-Messerlian GM, Canick JA: A summary analysis of Down syndrome markers in the late first trimester. Adv Clin Chem, 43:177-210, 2007.

Palomaki GE, Neveux LM, Bahado-Singh RO: Deciding which human chorionic gonadotropin-related molecule to use in a first trimester Down syndrome screening program. Obstet Gynecol, 109 (4 Suppl):93S, 2007.

Palomaki GE, Neveux LM, Haddow JE, Wyatt P: Hyperglycosylated-hCG (h-hCG) and Down syndrome screening in the first and second trimesters of pregnancy. Prenat Diagn, 27:808-813, 2007.

Palomaki GE, Neveux LM, Knight GJ, Haddow JE, Lee J: Estimating first-first trimester combined screening performance for Down syndrome in dried blood spots versus fresh sera. Genet Med, 9:458-463, 2007.

Pfendner EG, Vanakker O, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG: Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet, 44:621-628, 2007.

Recommendations from the EGAPP Working Group: testing for cytochrome P450 polymorphisms in adults with nonpsychotic depression treated with selective serotonin reuptake inhibitors. Genet Med, 9:819-825, 2007.

Shackleton CHL, Marcos J, Palomaki GE, Craig WY, Kelley RI, Kratz LE, Haddow JE: Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS). Am J Med Genet Part A, 143A:2129-2136, 2007.