1. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. Issue 4 (5th January 2016) Authors: Watson, Christopher M; Crinnion, Laura A; Murphy, Helen; Newbould, Melanie; Harrison, Sally M; Lascelles, Carolina; Antanaviciute, Agne; Carr, Ian M; Sheridan, Eamonn; Bonthron, David T; Smith, Audrey Journal: Journal of medical genetics Issue: Volume 53:Issue 4(2016) Page Start: 264 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant. Issue 11 (12th April 2022) Authors: Watson, Christopher Mark; Jackson, Lucy; Crinnion, Laura A; Bonthron, David T; Sheridan, Eamonn Journal: Journal of medical genetics Issue: Volume 59:Issue 11(2022) Page Start: 1082 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗