Fiona Gardiner
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Tuberous Sclerosis Complex Research, Epilepsy research and treatment, Sleep and related disorders
Most-Cited Works
- → Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood(2022)53 cited
- → Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome(2022)39 cited
- → Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions(2020)36 cited
- → Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting(2022)25 cited
- → The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy(2021)17 cited
- → Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless(2024)5 cited
- → Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): Solving rare and puzzling genetic disorders is ageless.(2023)
- → Impact of Lemborexant on Daytime Sleepiness/Alertness in Participants With Comorbid Insomnia and Mild Obstructive Sleep Apnea (P9-4.004)(2025)
- → 3058 Study 512: effect of perampanel on seizure control, sleep and quality of life in patients with focal or generalised epilepsy(2024)