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UF Health University of Florida
Division of Genetics and Metabolism Department of Pediatrics in the College of Medicine
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Megan Boothe

Megan Boothe, M.D.

CLIN AST PROF

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

On This Page

Teaching Profile

Courses Taught

  1. BMS6003 – Genetics and Health

    College of Medicine

Clinical Profile

Specialties

  • Pediatric Genetics and Metabolism

Areas of Interest

  • Genetics
  • Hereditary Hemorrhagic Telangiectasia

Publications

Academic Articles

  1. A case of mosaic Goltz syndrome in a male baby: Where persistence pays off.

    Journal
    JAAD case reports.
    Volume/Issue
    75:137-139
    [DOI]
    10.1016/j.jdcr.2026.06.034.
    [PMID]
    42569560.
    PubMed Publisher’s Site

  2. Reconciling competencies in undergraduate medical genetics education: APHMG versus PCME competencies.

    Journal
    Genetics in medicine : official journal of the American College of Medical Genetics.
    Volume/Issue
    27(7)
    [DOI]
    10.1016/j.gim.2025.101448.
    [PMID]
    40289928.
    PubMed Publisher’s Site

  3. Triheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.

    Journal
    Cardiology in the young.
    Volume/Issue
    35(1):218-220
    [DOI]
    10.1017/S1047951124026386.
    [PMID]
    39780480.
    3 citations PubMed Publisher’s Site

  4. Biallelic variants in NUDCD2 associated with a multiple malformation syndrome with cholestasis and renal failure.

    Journal
    American journal of medical genetics. Part A.
    Volume/Issue
    191(9):2324-2328
    [DOI]
    10.1002/ajmg.a.63314.
    [PMID]
    37272762.
    2 citations PubMed Publisher’s Site

  5. Treatment of ARS deficiencies with specific amino acids.

    Journal
    Genetics in medicine : official journal of the American College of Medical Genetics.
    Volume/Issue
    23(11):2202-2207
    [DOI]
    10.1038/s41436-021-01249-z.
    [PMID]
    34194004.
    51 citations PubMed Publisher’s Site

  6. Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation.

    Journal
    Journal of personalized medicine.
    Volume/Issue
    10(3)
    [DOI]
    10.3390/jpm10030105.
    [PMID]
    32867104.
    76 citations PubMed Publisher’s Site

Grants

  1. CMS Long Term Genetics COQHA FY26-29

    Active

    Role:
    Principal Investigator
    Funding:
    FL DEPT OF HLTH CHILDRENS MED SERVS

  2. CMS Newborn Screening – COQHX

    Active

    Role:
    Faculty
    Funding:
    FL DEPT OF HLTH CHILDRENS MED SERVS

  3. 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