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




Ashwood ER, Knight GJ: Clinical Chemistry of Pregnancy. In: Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 4th Edition. Burtis CA, Ashwood ER, Bruns DE (eds.), Elsevier Saunders, pp. 2153-2206, 2005.

Bradley LA, Palomaki GE, McDowell GA, Down Syndrome Working Group, ACMG Laboratory Quality Assurance Committee:  Technical standards and guidelines: prenatal screening for open neural tube defects.  Genet Med, 7:355-369, 2005.

Boyle CA, Ladenson P, Haddow JE:  Methods and criteria used in evidence-based decisions in public health.  Thyroid, 15:41-43, 2005.

Haddow JE:  Couple screening to avoid thalassemia: successful in Iran and instructive for us all.  J Med Screen, 12:55-56, 2005.

Haddow JE: Subclinical hypothyroidism and pregnancy outcomes. Obstet Gynecol, 106:198, 2005.

Hollowell JG, LaFranchi S, Smallridge RC, Spong CY, Haddow JE, Boyle CA:  2004 Where do we go from here?  Summary of working group discussions on thyroid function and gestational outcomes.  Thyroid, 15:72-76, 2005.

Isman F, Palomaki GE, Natowicz MR: Lysosomal enzymes in human peripheral blood mononuclear cells and granulocytes.  Clin Chem, 51:646-649, 2005.

Knight GJ, Palomaki GE, Klee GG, Schreiber WE, Cole LA:  A comparison of human chorionic gonadotropin-related components in fresh frozen serum with the proficiency testing material used by the College of American Pathologists.  Arch Pathol Lab Med, 129:328-330, 2005.

Knight GJ, Palomaki GE, Neveux L, Smith DE, Kloza EM, Pulkkinen AJ, Williams J, Haddow JE: Integrated serum screening for Down's syndrome in primary obstetric practice. Prenat Diagn , 22:1162-1167, 2005.

LaFranchi S, Haddow JE, Hollowell JG:  Is thyroid inadequacy during gestation a risk factor for adverse pregnancy and developmental outcomes?  Thyroid, 15:60-71, 2005.

Law MR, Palomaki G, Alfirevic Z, Gilbert R, Heath P, McCartney C, Reid T, Schrag S: The prevention of neonatal group B streptococcal disease: a report by a working group of the Medical Screening Society.  J Med Screen, 12:60-68, 2005.

McClain MR, Palomaki GE, Nathanson KL, Haddow JE: Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications.  Genet Med, 71:28-33, 2005.

McClain MR, Nathanson KL, Palomaki GE, Haddow JE: An evaluation of BRCA1 and BRCA2 founder mutations penetrance estimates for breast cancer among Ashkenazi Jewish women.  Genet Med, 7:34-39, 2005.

Palomaki GE, Bradley LA, McDowell GA, Down Syndrome Working Group, ACMG Laboratory Quality Assurance Committee:  Technical standards and guidelines: prenatal screening for Down syndrome.  Genet Med, 7:344-354, 2005.

Palomaki GE, Knight GJ, Neveux LM, Pandian MR, Haddow JE: Maternal serum invasive trophoblast antigen and first trimester Down syndrome screening.  Clin Chem, 51:1499-1504, 2005.

Palomaki GE, Kloza EM, Haddow JE, Williams J, Knight GJ: Patient and health professional acceptance of integrated serum screening for Down syndrome. Semin Perinatol, 29:247-251, 2005.

Palomaki GE, McClain MR, Haddow JE: ACCE reviews of genetic tests: BRCA1, BRCA2, and CFTR. In: Genomics and Population Health: United States 2005. Centers for Disease Control and Prevention, Office of Genomics and Disease Prevention. Atlanta, Georgia, 2005, pp. 27-33. Also available at http://www.cdc.gov/genomics/activities/ogdp/2005.htm.

Schreiber WE, Endres DB, McDowell GA, Palomaki GE, Elin JR, Klee GG, Wang E:  Comparison of fresh frozen serum to proficiency testing material in College of American Pathologists Surveys: alpha-fetoprotein, carcinoembryonic antigen, human chorionic gonadotropin and prostate-specific antigen.  Arch Pathol Lab Med, 129:331-337, 2005.

Spector EB, Grody WW, Matteson CJ, Palomaki GE, Bellissimo DB, Wolff DJ, Bradley LA, Prior TW, Feldman G, Popovich BW, Watson MS, Richards CS: Technical standards and guidelines: Venous thromboembolism (factor V Leiden and prothrombin 20210G>A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories. Genet Med, 7:444-453, 2005.