Dr Lisa Ewans
Dr Lisa Ewans is a Clinician Researcher who focuses on increasing diagnosis through genomics and novel methods and translating these to the clinic to improve patient outcomes. Her current research is in building pathways for undiagnosed individuals with suspected rare genetic conditions to access research genomics for diagnosis and evaluating the utility of genetic and genomic testing from a clinician and patient perspective.
Dr Ewans is a Clinical Geneticist at Sydney Children’s Hospitals Network where she co-manages a rare disease registry and co-leads the national Kleefstra syndrome clinic. Her PhD through UNSW and the Garvan improved diagnosis by 60% in individuals with undiagnosed rare genetic conditions through exome and genome sequencing.
Selected publications
See all publications- 2024Nature10.1038/s41586-024-07773-7
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
- 2024MedRxiv : The Preprint Server for Health Sciences10.1101/2024.04.07.24305438
variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.
- 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.