Frances High, MD, PhD
Frances High, MD, PhD
Instructor in Pediatrics, Harvard Medical School
Departments, Centers, & Programs:
55 Fruit Street
Boston, MA 02114-2696
- MD, PhD, University of Pennsylvania School of Medicine
- Residency, Boston Children's Hospital
- Fellowship, Boston Children's Hospital
American Board Certifications
- Pediatrics, American Board of Pediatrics
- Clinical Genetics (M.D.), American Board of Medical Genetics
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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.
- 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.
- 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
- 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.
- Donahoe PK, Longoni M, High FA. Polygenic Causes of Congenital Diaphragmatic Hernia Produce Common Lung Pathologies. Am J Pathol, 186(10):2532-43, 2016.
- 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.