Author
The University of MelbourneORCID 0000-0002-9109-1483Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Breana Galea, Joshua Reid, Samuel Gooley…·Michael S. Hildebrand
This study uses deep sequencing to identify genetic variants in focal cortical dysplasias, finding pathogenic variants in 71% of cases and highlighting the importance of somatic variants in FCDIIb.
Jacob E. Munro, Harshini Thiyagarajah, Mark F. Bennett…·Michael S. Hildebrand
Genome sequencing improves diagnostic yield for developmental and epileptic encephalopathies by identifying structural and non-coding variants missed by exome or gene panel testing.
Epi25 Collaborative, Siwei Chen, Bassel W Abou-Khalil…·Alica M. Goldman
This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.
Mahmoud Koko, Roland Krause, Thomas Sander…·Christian Hengsbach
The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.
Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott…·Ingo Borggräfe
This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.