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:
- Business:
- meganboothe@ufl.edu
Addresses:
- Business Mailing:
-
1701 S.W. 16th Ave
Pediatrics Genetics and Metabolism Division, 2nd Floor
GAINESVILLE FL 32611