Scheduled Maintenance Notice

Please note that Researcher Profiles will be undergoing scheduled maintenance on Wednesday 7th Oct, from 8:00am to 9:00am. During this time, the Researcher Profiles system will be unavailable. We apologise for any inconvenience and appreciate your understanding.

Select Publications

Preprints

Jackson A; Blakes AJ; Wall E; Clarke N; Abdelhadi O; Agrawal S; Blair E; Brady AF; Brittain H; Chandler KE; Drinkall N; Elmslie F; Ewans L; Fennell A; Gazdagh G; Kini U; Macintosh R; Mansour S; Menzies L; Metcalfe K; Milhench A; Palmer E; Parida A; Prescott K; Redman M; Renieri A; Rius R; Rizzo CL; Sachdev R; Simons C; Sisodiya S; Stewart H; Thomas H; Tinella F; Walker S; Whiffin N; O’Keefe RT; Lord J; Banka S, Biallelic variants in RNU2-2 cause a remarkably frequent developmental epileptic encephalopathy, http://dx.doi.org/10.1101/2025.09.02.25334957


Back to profile page