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

Clinical Profile

Specialties
  • Licensed Certified Genetic Counselor
Areas of Interest
  • Genetics

Publications

2023
Improvement in cystic fibrosis newborn screening program outcomes with genetic counseling via telemedicine.
Pediatric pulmonology. 58(12):3478-3486 [DOI] 10.1002/ppul.26678. [PMID] 37712603.
2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
American journal of human genetics. 104(6):1210-1222 [DOI] 10.1016/j.ajhg.2019.03.021. [PMID] 31079897.
2018
A pathogenic role for germline PTEN variants which accumulate into the nucleus.
European journal of human genetics : EJHG. 26(8):1180-1187 [DOI] 10.1038/s41431-018-0155-x. [PMID] 29706633.

Contact Details

Phones:
Business:
(352) 294-5050
Emails:
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