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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.





6710B ROCKLEDGE DRIVE Room 3117, MSC 7004
Bethesda ,MD 20817



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 copy number variants in 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.  He has recently collaborated with Dr. Constantine Stratakis' Pediatric-Genetic research group to conduct whole exome sequencing investigations of pediatric endocrine conditions.

Curriculum Vitae for James L. Mills in HTML


Publications (PubMed):

Strategies for Preventing Folate-Related Neural Tube Defects: Supplements, Fortified Foods, or Both?
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation.
Somatic USP8 gene mutations are a common cause of pediatric Cushing disease.
Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis.
Common Variants at Putative Regulatory Sites of the Tissue Nonspecific Alkaline Phosphatase Gene Influence Circulating Pyridoxal 5'-Phosphate Concentration in Healthy Adults.
Tryptophan catabolism and vitamin B-6 status are affected by gender and lifestyle factors in healthy young adults.
Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.
Copy number variants in a population-based investigation of Klippel-Trenaunay syndrome.
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.
Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.
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