Dr. Trapane is the Chief of Pediatric Genetics at the University of Florida – Jacksonville. She received her medical degree from the University of Texas Health Science Center San Antonio. She completed her pediatric residency and clinical genetics fellowship at the University of Texas health Science Center Houston.

Dr. Trapane is a Fellow of the American Academy of Pediatrics and a Fellow of the American College of Medical Genetics and Genomics. She is also an elected member of the Executive Committee of the American Academy of Pediatrics Council on Genetics.

Dr. Trapane’s primary clinical interests are in neurofibromatosis and connective tissue disorders. She is a member of the Clinical Care Advisory Board for Children’s Tumor Foundation. She is the co-director of the monthly CTF Virtual Case Conference.

Dr. Trapane received a Master of Medical Education from the University of Iowa where she was actively involved with both undergraduate and graduate level medical education. She has trained and mentored numerous physicians throughout their education and careers as a didactic course director and fellowship director. While at the University of Iowa Carver College of Medicine, she was awarded the endowed Sahai Family Professorship of Medical Education.

Publications (2016 – present)

Book Chapters:

Trapane P. Genetics. In Hannaman, R.A, (eds): Pediatrics Board Review, Core Curriculum, 8th Edition. Colorado Springs, 2017, MedStudy. Trapane P. Metabolic Genetics. In Hannaman, R.A, (eds): Pediatrics Board Review, Core Curriculum, 8th Edition. Colorado Springs, 2017, MedStudy.

Trapane P. Metabolic Genetics. In Hannaman, R.A, (eds): Pediatrics Board Review, Core Curriculum, 9th Edition. Colorado Springs, 2019, MedStudy Moyer G, Huguelet T, Trapane P. Hypermobility Syndromes in Heavy Menstrual Bleeding. In Hematology in the Adolescent Female. Cham, Switzerland, 2020, Springer Books.

Peer–reviewed Papers:

Ng BG, Shiryaev SA, Rymen D, . . . Trapane P, . . . Freeze HH. 2016. ALG1 – CDG: Clinical and molecular characterization of 39 unreported patients. Hum Mutat. 37(7):653 – 60.

Harshman LA, Ng BG, Freeze HH, Trapane P, Dolezal A, Brophy PD, Brumbaugh JE. 2016. Congenital nephrotic syndrome in an infant with ALG1 – congenital disorder of glycosylation. Pediatr Int. 58(8): 785-8.

Koczkowska M, . . . Trapane PL, . . . Legius E, Messiaen LM. 2019. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 21(4):867-876. Erratum in: Genet Med. 21(3):764-765. PMID: 30190611.

Karolak JA, Bacolla A, Liu Q, Lantz PE, Petty J, Trapane P, Panzer K, Totapally BR, Niu Z, Xiao R, Xie NG, Wu LR, Szafranski P, Zhang DY, Stankiewicz P. 2019. A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 179(11):2272-2276. PMID: 31436901.

Koczkowska M, . . . Trapane PL, . . . Legius E, Messiaen LM. 2020. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Hum Mutat. 41(1):299-315. PMID: 31595648.

Rabin R, . . . Trapane P, . . . Pappas J. 2020. Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A. 182(9):2037-2048. Epub 2020 Jul 24. PMID: 32710489.

Ghosh SG, . . . Trapane P, . . . Gleeson JG. 2021. A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet. 29(2):271-279. Epub 2020 Sep 8. PMID: 32901138.

Beaudry SM, Shchelochkov O, Trapane P, Darbro B, Nagy JMW. 2021. Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9. Clin Case Rep. 9(4):2340-2344. PMID: 33936691.

Goodman LD, . . . Trapane P, . . . Tan QK. 2021. TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 108(9):1669-1691. PMID: 34314705.

A complete list of my published work can be found at this link: https://pubmed.ncbi.nlm.nih.gov/?term=trapane+p+OR+plotner+pl&sort=date