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





Feldman GL, Schrijver I, Lyon E, Palomaki GE: Results of the College of American Pathology (CAP)/American College of Medical Genetics and Genomics (ACMG) External Proficiency Testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population. Genet Med, 16:695-702, 2014.

Haddow JE, Craig WY, Neveux LM, Palomaki GE, Lambert-Messerlian G, Malone FD, D'Alton ME: Implications of high free thyroxine (FT4) concentrations in euthyroid pregnancies: The FaSTER Trial. J Clin Endocrinol Metab, 99:2038-2044, 2014.

Lambert-Messerlian G, Kloza EM, Williams J 3 rd, Loucky J, O’Brien B, Wilkins-Haug L, Mahoney MJ, DePiasio P, Borrell A, Ehrich M, van den Boom D, Bombard AT, Deciu C, Palomaki GE: Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies. Genet Med, 16:419-422, 2014.

O'Brien BM, Kloza EM, Halliday JV, Lambert-Messerlian GM, Palomaki GE: Maternal plasma DNA testing: Experience of women counseled at a prenatal diagnosis center. Genet Test Mol Biomarkers, 18:665-669, 2014.

Palomaki GE, Lambert-Messerlian G: Down syndrome screening: Suitability of a WHO 5 standardized total hCG assay. Clin Biochem, 47:629-631, 2014.

Palomaki GE:  Sequencing cell free DNA in the maternal circulation to screen for Down syndrome and other common aneuploidies.  In: Genomic Applications in Pathology.  Netto GJ, Schrijver I (eds).  Springer:New York, pp. 563-580, 2014.

Pinar H, Palomaki GE, Haddow HR, Rowles A, Torabi R: Comparison of radiographic femur measurements in stillbirths and neonatal deaths to ultrasound measurements in ongoing pregnancies. Pediatr Dev Pathol, 17:107-111, 2014.

Richards CS, Palomaki GE, Lacbawan FL, Lyon E, Feldman GL: Three year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders. Genet Med, 16:25-32, 2014.