1. Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies. (30th March 2021) Authors: Palmer, Elizabeth Emma; Sachdev, Rani; Macintosh, Rebecca; Melo, Uirá Souto; Mundlos, Stefan; Righetti, Sarah; Kandula, Tejaswi; Minoche, Andre E.; Puttick, Clare; Gayevskiy, Velimir; Hesson, Luke; Idrisoglu, Senel; Shoubridge, Cheryl; Thai, Monica Hong Ngoc; Davis, Ryan L.; Drew, Alexander P.; S... Journal: Neurology Issue: Volume 96:Number 13(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Evaluation of an educational video providing key messages for doctors to counsel families following a first afebrile seizure. (13th September 2020) Authors: Ng, Eleanor W M; Le Marne, Fleur; Sinclair, Kate G; Lorentzos, Michelle S; Waak, Michaela; Deuble, Natalie; Georgeson, Thomas; Rao, Arjun; Rikhi, Surbhi; Mallitt, Kylie‐Ann; Bye, Ann Journal: Journal of paediatrics and child health Issue: Volume 57:Number 2(2021) Page Start: 198 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. Issue 2 (4th January 2018) Authors: Palmer, Elizabeth E.; Schofield, Deborah; Shrestha, Rupendra; Kandula, Tejaswi; Macintosh, Rebecca; Lawson, John A.; Andrews, Ian; Sampaio, Hugo; Johnson, Alexandra M.; Farrar, Michelle A.; Cardamone, Michael; Mowat, David; Elakis, George; Lo, William; Zhu, Ying; Ying, Kevin; Morris, Paula; Tao, ... Journal: Molecular genetics & genomic medicine Issue: Volume 6:Issue 2(2018) Page Start: 186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Piloting positive psychology resources for caregivers of a child with a genetic developmental and epileptic encephalopathy. (March 2022) Authors: Nevin, Suzanne M.; Wakefield, Claire E.; Le Marne, Fleur; Beavis, Erin; Macintosh, Rebecca; Sachdev, Rani; Bye, Ann; Palmer, Elizabeth E.; Nunn, Kenneth Journal: European journal of paediatric neurology Issue: Volume 37(2022) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy. (21st July 2021) Authors: Nevin, Suzanne M; Wakefield, Claire E; Barlow‐Stewart, Kristine; McGill, Brittany C; Bye, Ann; Palmer, Elizabeth E Other Names: Dale Russell C investigator.; Gill Deepak investigator.; Kothur Kavitha investigator.; Boggs Kirsten investigator.; Le Marne Fleur investigator.; Beavis Erin investigator.; Macintosh Rebecca investigator.; Sachdev Rani investigator. Journal: Developmental medicine & child neurology Issue: Volume 64:Number 1(2022) Page Start: 95 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Siblings of young people with chronic illness: Caring responsibilities and psychosocial functioning. (December 2022) Authors: Kelada, Lauren; Wakefield, Claire E; Drew, Donna; Ooi, Chee Y.; Palmer, Elizabeth E; Bye, Ann; De Marchi, Sandra; Jaffe, Adam; Kennedy, Sean Journal: Journal of child health care Issue: Volume 26:Number 4(2022) Page Start: 581 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗