Photo of Frances A. High, MD, PhD

Frances A. High, MD, PhD

  • Assistant in Pediatrics, MassGeneral Hospital for Children
  • Instructor in Pediatrics, Harvard Medical School


Accepting New Patients


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.



Centers & Specialties

MassGeneral Hospital for Children

Clinical Interests
  • Genetic basis for birth defects and inherited syndromes
  • Diaphragmatic hernia
  • medical genetics
  • Causes of malformations
  • Genetic syndromes
  • Developmental disorders
  • Autism spectrum disorders
  • Genetic testing
  • Genetics
Medical Education
  • MD, PhD, University of Pennsylvania School of Medicine
  • Residency, Boston Children's Hospital
  • Fellowship, Boston Children's Hospital
Board Certifications
  • Pediatrics
  • Clinical Genetics (M.D.)
  • Boston: Massachusetts General Hospital
Existing Patients
Patient Gateway
Insurances Accepted
  • Aetna Health Inc.
  • AllWays Health (NHP) - ACD
  • AllWays Health (NHP) - PBO
  • Beech Street
  • Blue Cross Blue Shield - Blue Care 65
  • Blue Cross Blue Shield - Indemnity
  • Blue Cross Blue Shield - Managed Care
  • Blue Cross Blue Shield - Partners Plus
  • BMC HealthNet Mass Health MCO/ACO
  • Cigna (PAL #'s)
  • Commonwealth Care Alliance
  • Fallon Community HealthCare
  • Great-West Healthcare (formally One Health Plan)
  • Harvard Pilgrim Health Plan - ACD
  • Harvard Pilgrim Health Plan - PBO
  • Health Care Value Management (HCVM)
  • Humana/Choice Care PPO
  • MassHealth
  • Medicare
  • Medicare - ACD
  • OSW - Maine
  • OSW - Rhode Island
  • Private Health Care Systems (PHCS)
  • Senior Whole Health
  • TriCare
  • Tufts Health Plan
  • Unicare
  • United Healthcare (non-HMO) - ACD
  • United Healthcare (non-HMO) - PBO

Note: This provider may accept more insurance plans than shown; please call the practice to find out if your plan is accepted.

Patient Age Group
Pediatric and Adult
Provider Gender


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.

Research & Publications

Research Summary

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

  1. Longoni M, Russell MK, High FA, Darvishi K, Maalouf FI, Kashani A, Tracy AA, Coletti CM, Loscertales M, Lage K, Ackerman KG, Woods SA, Ward-Melver C, Andrews D, Lee C, Pober BR and Donahoe PK. Prevalence and Penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. Genet. 87(4):362-7, 2015.
  2. Longoni M*, High FA*, Russell MK*, Kashani A*, Tracy AA, Coletti CM, Hila R, Shamia A, Wells J, Ackerman KG, Wilson JM, Bult CJ, Lee C, Lage K, Pober BR and Donahoe PK. Molecular pathogenesis of congenital diaphragmatic hernia revealed by integrating exome sequencing, developmental data and bioinformatics. Proc Natl Acad Sci USA, 111(34):12450-5, 2014. *equal contributions
  3. High FA, Bhayani P, Wilson JM, Bult CJ, Donahoe PK, Longoni M. De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia. Am J Med Genet A., 170(9):2457-61, 2016.
  4. Donahoe PK, Longoni M, High FA. Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies. Am J Pathol, 186(10):2532-43, 2016.
  5. Longoni M, High FA, Qi H, Joy MP, Hila R, Coletti CM, Wynn J, Loscertales M, Shan L, Bult CJ, Wilson JM, Shen Y, Chung WK, Donahoe PK. Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia. Hum Genet. 136(6):679-691, 2017.


Pediatric Genetics
55 Fruit Street
Boston, MA 02114-2696
Phone: 617-726-1561
Fax: 617-726-1566

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