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, Palomaki GE, Bienstock J, Varga E, Scott JA: Can factor V Leiden and prothrombin G20210A testing in women with recurrent pregnancy loss result in improved pregnancy outcomes? Results from a targeted evidence-based review. Genet Med, 14:39-50, 2012.

Canick JA, Palomaki GE: Maternal plasma DNA: a major step forward in prenatal testing. J Med Screen, 19:57-59, 2012.

Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ehrich M, van den Boom D, Bombard AT, Deciu C, Palomaki GE: DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Genet Med, 32:730-734, 2012.

Craig WY, Allan WC, Kloza EM, Pulkkinen AJ, Waisbren S, Spratt DI, Palomaki GE, Neveux LM, Haddow JE: Mid-gestational maternal free thyroxine concentration and offspring neurocog-nitive development at age two years. J Clin Endocrinol Metab, 97:E22-E28, 2012.

Gronowski AM, Haddow J, Kilpatrick S, Lazarus JH, Negro R: Thyroid function during pregnancy: Who and how should we screen? Clin Chem, 58:1397-1401, 2012.

Haddow JE, Craig WY, Palomaki GE, Neveux LM, Lambert-Messerlian G, Canick JA, Malone FD, D'Alton M, for the First and Second Trimester Risk of Aneuploidy (FaSTER) Research Consortium: Impact of adjusting for the reciprocal relationship between maternal weight and free thyroxine during early pregnancy. Thyroid, November 9, 2012 [Epub ahead of print].

Lambert-Messerlian GM, Palomaki GE, Eklund EE, Kloza EM, Neveux LM, Phipps MG, Canick JA: Feasibility of using plasma rather than serum in the first and second trimester multiple marker Down's syndrome screening. J Med Screen, December 2012 [Epub ahead of print].

Lyon E, Foster JG, Palomaki GE, Pratt VM, Reynolds K, Sabato F, Scott SA, Vitazka P: ACMG Standards and Guidelines: Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy. Genet Med, 14:990-1000, 2012.

Palomaki GE, Richards CS: Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey. Genet Med, 14:69-75, 2012.

Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA: DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med, 14:296-305, 2012.

Veenstra DL, Piper JE, Pauker SG, Klein R, Richards CS, Tunis SR, Djubegovic B, Marrone M, Lin JS, Berg AO, Calonge N: Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update. Genet Med, September 2012 [Epub ahead of print].