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.
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