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R. Stephen Amato, MD, PhD

Chief, Division of Pediatric Genetics and Metabolism
  • About

    R. Stephen Amato is a Medical Geneticist specializing in inherited diseases in children and adults, with special interest in metabolic and molecular disorders, neurogenetics, and ciliary abnormalities. He has been active in public health genetics and newborn screening and has been involved in organizing genetic services at the state, regional, and national levels.

    Amato has an undergraduate degree in chemistry and biology and a master’s degree in psychology and counseling from Columbia University, New York. He received my medical degree and trained in pediatrics and critical care medicine at the University of Nebraska.

    He was a Damon Runyon Memorial Fellow for Cancer Research at New York University and Beth Israel Medical Center, and received a PhD in Human Genetics and Cytogenetics from NYU.

    Amato has held appointments at the University of Nebraska, West Virginia University, University of Maryland, Johns Hopkins University, and Tufts University. He has coordinated newborn metabolic screening for the state of Arizona while a faculty member at Phoenix Children’s Hospital, prior to joining the faculty at the University of Kentucky.

    Amato is board certified in Pediatrics, Clinical Genetics and Laboratory Cytogenetics, and is qualified in Aerospace Medicine.


    MD, University of Nebraska, College of Medicine, Omaha

    PhD, New York University


    University of Nebraska, College of Medicine, Omaha


    Human Genetics and Cytogenetics, New York University, New York, Damon Runyon Memorial Fund Fellow

    Certifications and Special Training

    American Board of Medical Genetics, Clinical Cytogenetics

    American Board of Pediatrics

  • Publications


    1. Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome. Am J Med Genet A. 2015 Aug;167A(8):1796-806. Garg A, Kircher M, Del Campo M, Amato RS, Agarwal AK.
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