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Mills, James Louis

Formal Title:

Senior Investigator


Dr. Mills conducts research on pregnancy and pediatric problems. His research focus is on birth defects examined from a genetic and nutritional perspective. He has investigated folate-related defects and genetic causes of neural tube defects and rare disorders.





6100 EXECUTIVE BLVD Room 7B03R, MSC 7510
Bethesda Md 20892-7510
For FedEx use:
Rockville Md 20852



James L. Mills, M.D., M.S., is a Senior Biomedical Research Service Scientist and Senior Investigator in DIPHR's Epidemiology Branch. He joined NICHD in 1979. He earned his master of science degree in epidemiology from the University of Pennsylvania, and his M.D. from New York Medical College.  He trained in pediatrics at New York-Cornell and Children's Hospital of Philadelphia and Pediatric Endocrinology at Children's Hospital of Philadelphia.  He was a Robert Wood Johnson Clinical Scholar at the University of Pennsylvania School of Medicine.   His primary research interest is the etiology of birth defects. He has worked for the last decade on genetic and biochemical risk factors for NTDs and other birth defects.  His most recent work includes studies of the effect of maternal choline and iron status on birth defects.  He and his colleagues are collaborators in several large scale GWAS studies.  Their quantitative traits GWAS, The Trinity Student Study, is used for exploring genetic contributions to concentrations of biological compounds ranging from tryptophan to clotting factors and collaborations are invited.

Curriculum Vitae for James L. Mills in PDF (PDF - 276 KB)
Curriculum Vitae for James L. Mills in HTML


Publications (PubMed):

Maternal choline concentrations during pregnancy and choline-related genetic variants as risk factors for neural tube defects.
Novel copy-number variants in a population-based investigation of classic heterotaxy.
Is low iron status a risk factor for neural tube defects?
Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.
Evaluation of potential infectivity of Alzheimer and Parkinson disease proteins in recipients of cadaver-derived human growth hormone.
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.
Common Variants at Putative Regulatory Sites of the Tissue Nonspecific Alkaline Phosphatase Gene Influence Circulating Pyridoxal 5'-Phosphate Concentration in Healthy Adults.
Preventing folate-related neural tube defects: Problem solved, or not?
Tryptophan catabolism and vitamin B-6 status are affected by gender and lifestyle factors in healthy young adults.
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology