James Louis Mills, M.S.,M.D.

Senior Investigator

Epidemiology Branch


6710B 3117



Research Topics

Adverse Pregnancy Outcomes, Particularly Birth Defects

We conduct a range of research related to birth defects and other adverse pregnancy outcomes. The two main areas we cover are nutrition and genetics. In particular we have studied folate and related vitamins as they relate to birth defect risk, particularly neural tube defects. We also conduct large scale studies of the relationship between genetic variants and birth defects. Other interests include the effect of nutrition on pregnancy outcomes and genetic asssociations with endocrine diseases.


Dr. Mills is trained in Pediatrics (Cornell and Children's Hospital of Phila.-University of Pennsylvania), Pediatric Endocrinology (Children's Hospital of Phila.-University of Pennsylvania) and Epidemiology (University of Pennsylvania). He has been at the NICHD, NIH for 35 years,over 30 as a senior investigator and later senior biomedical research service scientist. He has conducted research on many pregnancy related problems including diabetes mellitus, fetal alcohol spectrum disorder, folate-neural tube defects, and genetic factors in numerous birth defects.

Selected Publications

  1. Rigler SL, Kay DM, Sicko RJ, Fan R, Liu A, Caggana M, Browne ML, Druschel CM, Romitti PA, Brody LC, Mills JL. Novel copy-number variants in a population-based investigation of classic heterotaxy. Genet Med. 2015;17(5):348-57.

  2. Molloy AM, Einri CN, Jain D, Laird E, Fan R, Wang Y, Scott JM, Shane B, Brody LC, Kirke PN, Mills JL. Is low iron status a risk factor for neural tube defects? Birth Defects Res A Clin Mol Teratol. 2014;100(2):100-6.

  3. Kuehn D, Aros S, Cassorla F, Avaria M, Unanue N, Henriquez C, Kleinsteuber K, Conca B, Avila A, Carter TC, Conley MR, Troendle J, Mills JL. A prospective cohort study of the prevalence of growth, facial, and central nervous system abnormalities in children with heavy prenatal alcohol exposure. Alcohol Clin Exp Res. 2012;36(10):1811-9.

  4. Boghossian NS, Sicko RJ, Kay DM, Rigler SL, Caggana M, Tsai MY, Yeung EH, Pankratz N, Cole BR, Druschel CM, Romitti PA, Browne ML, Fan R, Liu A, Brody LC, Mills JL. Rare copy number variants implicated in posterior urethral valves. Am J Med Genet A. 2016;170(3):622-33.

  5. Mills JL, Dimopoulos A, Bailey RL. What is standing in the way of complete prevention of folate preventable neural tube defects? Birth Defects Res A Clin Mol Teratol. 2016;106(7):517-9.

This page was last updated on August 4th, 2017