Willa Thorson
Program Director · Jackson Memorial Hospital
Credentials: · · · · ·
History
Present
Presentmedical genetics and genomics program · University of Miami/Jackson Health System
Research
Case report · Human Genetics · 2014 · First of 8 authors · 81 citations
Genotype-phenotype correlations in individuals with pathogenic RERE variants
Case report · Human Mutation · 2018 · 44 citations
A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations
Case report · Ophthalmic Genetics · 2020 · 27 citations
6 papers
3 papers
3 papers
2 papers
2 papers · 2 as a fellow
2 papers
- OB
2 papers
2 papers
Clinical trials
Post-trial Access Program of Idursulfase-IT Along With Elaprase in Children With Hunter Syndrome
Site PI · Available
Takeda