1. 196 Paediatric Cardiomyopathy (PC); The Validation, Implementation and Utility of a 71 Gene NGS Diagnostic Panel to Detect Variants in Rare Cardiac Genes. (6th June 2015) Authors: Gable, Mary; Honeychurch, Julie; Sawyer, Hilary; Newbury-Ecob, Ruth; Steward, Colin; Robert, Leema; Bueser, Tootie; Gardiner, Carol; Bowen, Claire; Williams, Maggie Journal: Heart Issue: Volume 101(2015)Supplement 4 Page Start: A109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing. Issue 6 (5th February 2020) Authors: Smith, Philip S.; Whitworth, James; West, Hannah; Cook, Jacqueline; Gardiner, Carol; Lim, Derek H. K.; Morrison, Patrick J.; Hislop, R. Gordon; Murray, Emily; Tischkowitz, Marc; Warren, Anne Y.; Woodward, Emma R.; Maher, Eamonn R. Journal: Genes, chromosomes & cancer Issue: Volume 59:Issue 6(2020) Page Start: 333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Issue 10173 (23rd February 2019) Authors: Lord, Jenny; McMullan, Dominic J; Eberhardt, Ruth Y; Rinck, Gabriele; Hamilton, Susan J; Quinlan-Jones, Elizabeth; Prigmore, Elena; Keelagher, Rebecca; Best, Sunayna K; Carey, Georgina K; Mellis, Rhiannon; Robart, Sarah; Berry, Ian R; Chandler, Kate E; Cilliers, Deirdre; Cresswell, Lara; Edwards,... Journal: Lancet Issue: Volume 393:Issue 10173(2019) Page Start: 747 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗