Author
The Royal Melbourne HospitalORCID 0000-0003-0190-5760Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Sattar Khoshkhoo, Mingyun Bae, Yilan Wang…·Christopher A. Walsh
This study identifies somatic Ras-MAPK pathway variants in hippocampal tissue from patients with drug-resistant epilepsy, showing their association with clonal competition and worse surgical outcomes.
Alison Anderson, Piero Perucca, Elena Vianca…·Sameer M. Zuberi
The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.
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.