Dr Lisa Ewans
- 2023Orphanet journal of rare diseases10.1186/s13023-023-02966-1
International Undiagnosed Diseases Programs (UDPs): components and outcomes.
- 2022Genetics in medicine : official journal of the American College of Medical Genetics10.1016/j.gim.2022.04.021
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis.
- 2019Human mutation10.1002/humu.23936
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
- 2018American journal of medical genetics. Part A10.1002/ajmg.a.40502
Silver Russel syndrome in an aboriginal patient from Australia.