Megan Boothe

Megan Boothe, M.D.

CLIN AST PROF

Department: Pediatric Genetics and Metabolism
Business Phone: (352) 294-5050
Business Email: meganboothe@ufl.edu

Clinical Profile

Specialties
  • Pediatric Genetics and Metabolism
Areas of Interest
  • Genetics
  • Hereditary hemorrhagic telangiectasia

Publications

2023
Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.
American journal of medical genetics. Part A. 191(9):2324-2328 [DOI] 10.1002/ajmg.a.63314. [PMID] 37272762.
2021
Treatment of ARS deficiencies with specific amino acids.
Genetics in medicine : official journal of the American College of Medical Genetics. 23(11):2202-2207 [DOI] 10.1038/s41436-021-01249-z. [PMID] 34194004.
2020
Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.
Journal of personalized medicine. 10(3) [DOI] 10.3390/jpm10030105. [PMID] 32867104.

Grants

Jul 2016 ACTIVE
FLDOH CMS Long Term Genetics – COQXA
Role: Principal Investigator
Funding: FL DEPT OF HLTH CHILDRENS MED SERVS

Contact Details

Phones:
Business:
(352) 294-5050
Emails:
Addresses:
Business Mailing:
1701 S.W. 16th Ave
Pediatrics Genetics and Metabolism Division, 2nd Floor
GAINESVILLE FL 32611