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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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Amy R Jonasson

Amy R Jonasson, M.Sc, CGC

Genetic Counselor

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

On This Page

Clinical Profile

Specialties

  • Licensed Certified Genetic Counselor

Areas of Interest

  • Genetics

Publications

Academic Articles

  1. Improvement in cystic fibrosis newborn screening program outcomes with genetic counseling via telemedicine.

    Journal
    Pediatric pulmonology.
    Volume/Issue
    58(12):3478-3486
    [DOI]
    10.1002/ppul.26678.
    [PMID]
    37712603.
    4 citations PubMed Publisher’s Site

  2. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

    Journal
    American journal of human genetics.
    Volume/Issue
    104(6):1210-1222
    [DOI]
    10.1016/j.ajhg.2019.03.021.
    [PMID]
    31079897.
    66 citations PubMed Publisher’s Site

  3. A pathogenic role for germline PTEN variants which accumulate into the nucleus.

    Journal
    European journal of human genetics : EJHG.
    Volume/Issue
    26(8):1180-1187
    [DOI]
    10.1038/s41431-018-0155-x.
    [PMID]
    29706633.
    21 citations PubMed Publisher’s Site

Grants

  1. LSD Registry Program

    Active

    Role:
    Other
    Funding:
    GENZYME CORP

Contact Details

Phones:
Business:
(352) 294-5050
Emails:
Business:
argladstone@ufl.edu
Addresses:
Business Mailing:
PEDIATRICS GENETICS
PO BOX 100296
UNIVERSITY OF FLORIDA
 GAINESVILLE FL 326100296
Business Street:
PEDIATRICS GENETICS
SHANDS AT UF HOSPITAL
 GAINESVILLE FL 32610