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Dr. High is a board-certified clinical geneticist and pediatrician with clinical expertise in general medical genetics, birth defects, neurodevelopmental disorders, Klinefelter Syndrome, and other rare diseases. She is the lead clinical geneticist for an active research study investigating the genetics of congenital diaphragmatic hernia and other birth defects, and also participates in research studies on other rare diseases as part of the Undiagnosed Diseases Network.
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MassGeneral Hospital for Children
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Dr. High is a physician-scientist in the field of human genetics with specific interests in developmental biology and birth defects. She is board-certified clinician in the fields of Clinical Genetics (ABMGG) and Pediatrics (ABP). Her clinical interests include general clinical genetics, Klinefelter syndrome, genetics of congenital malformations, and genetics of neurodevelopmental disorders. In addition, she has a background in basic science research in developmental biology, specializing in murine models of birth defects. She has a research interest in the genetics of congenital anomalies, especially congenital diaphragmatic hernia (CDH), and currently serves as the lead clinical geneticist at the Pediatric Surgical Research Laboratories at Massachusetts General Hospital and Boston Children’s Hospital as part of a multi-center collaborative study on the genetics of CDH. Dr. High is also the co-director of the MGH Klinefelter syndrome clinic, which is designed to provide multi-specialty clinical care to boys and men with Klinefelter syndrome and related sex chromosome variations. She is also an investigator for the Undiagnosed Diseases Network, a multi-center initiative to bring premier clinical expertise, the latest in diagnostic techniques, and interface with researchers to diagnose and learn from the most challenging medical cases.
View my most recent research
Understanding the genetic basis of congenital diaphragmatic hernia (CDH).
I am serving as the lead clinical geneticist for one of the largest and longest-running studies on the genetics of CDH, a common birth defect with high morbidity and mortality. This work contributes significantly to our understanding of the genetics of CDH, identifying critical genes and pathways with sequence variations and copy number variations, and correlating with disease phenotype and severity. Our long-term goal is to harness our understanding of the genetic basis of CDH to improve diagnostic, prognostic, and therapeutic options for these patients.
View my most recent publications at PubMed
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