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Molecular Analysis and Natural History Study of Children with Neurodevelopmental Disorders

  • Study HIC#:2000026262
  • Last Updated:11/06/2025

    1) To discover novel genes and molecular mechanisms contributing to autism spectrum disorder (ASD) and/or other neurodevelopmental phenotypes.

    2) To perform a comprehensive medical record review, establish patient registry, and natural history study to delineate the spectrum of clinical presentations of ASD and/other neurodevelopmental phenotypes in children carrying certain rare genetic mutations of research interests.

    Contact Us

    For more information about this study, including how to volunteer, contact:

    Meaghan Donahue

    Help Us Discover!

    You can help our team find trials you might be eligible for by creating a volunteer profile in MyChart. To get started, create a volunteer profile, or contact helpusdiscover@yale.edu, or call +18779788343 for more information.

    Eligibility Criteria

    • Male and female subjects with ASD and/or other neurodevelopmental phenotypes of unknown etiology.
    • Subjects 2-30 years of age will be eligible for the study.

    Principal Investigator

    Sub-Investigator

    For more information about this study, including how to volunteer, contact: