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. Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis. (16th August 2022) Authors: Davis, Ryan L.; Kumar, Kishore R.; Puttick, Clare; Liang, Christina; Ahmad, Kate E.; Edema-Hildebrand, Fabienne; Park, Jin-Sung; Minoche, Andre E.; Gayevskiy, Velimir; Mallawaarachchi, Amali C.; Christodoulou, John; Schofield, Deborah; Dinger, Marcel E.; Cowley, Mark J.; Sue, Carolyn M. Journal: Neurology Issue: Volume 99:Number 7(2022) Page Start: e730 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗