1. MG-108 Beyond the ACMG 56: Parental choices and initial results from a comprehensive whole genome sequencing-based search for predictive genomic variants in children. (4th December 2015) Authors: Meyn, MStephen; Monfared, Nasim; Marshall, Christian R; Merico, Daniele; Stavropoulos, Dimitri J; Hayeems, Robin Z; Szego, Michael; Jobling, Rebekah; Girdea, Marta; Bader, Gary D; Brudno, Michael; Cohn, Ronald D; Scherer, Stephen W; Shaul, Randi Zlotnik; Shuman, Cheryl; Ray, Peter N; Bowdin, Sarah Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MG-130 Utilising whole exome sequencing to identify causative variants in genetically heterogeneous disorders. (4th December 2015) Authors: Stavropoulos, Dimitri J; Marshall, Christian R; Basran, Raveen K; Lau, Lynette; Eliou, Marianne; Orr, Jennifer; Liston, Eriskay J; Bowdin, Sarah; Meyn, MStephen; Carter, Melissa; Carew, Chris; Cohn, Ronald D; Shlien, Adam; Ray, Peter N Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. MG-132 Diagnostic utility of whole genome sequencing in paediatric medicine. (4th December 2015) Authors: Marshall, Christian R; Stavropoulos, Dimitri J; Jobling, Rebekah; Merico, Daniele; Bowdin, Sarah; Monfared, Nasim; Meyn, MStephen; Szego, Michael; Shaul, Randi Zlotnik; Thiruvahindrapuram, Bhooma; Pellecchia, Giovanna; Nalpathamkalam, Thomas; Brudno, Michael; Girdea, Marta; Hayeems, Robin Z; Care... Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 2 Page Start: A12 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression. Issue 5 (16th March 2021) Authors: Maino, Eleonora; Wojtal, Daria; Evagelou, Sonia L; Farheen, Aiman; Wong, Tatianna W Y; Lindsay, Kyle; Scott, Ori; Rizvi, Samar Z; Hyatt, Elzbieta; Rok, Matthew; Visuvanathan, Shagana; Chiodo, Amanda; Schneeweiss, Michelle; Ivakine, Evgueni A; Cohn, Ronald D Journal: EMBO molecular medicine Issue: Volume 13:Issue 5(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Monogenic variants in dystonia: an exome-wide sequencing study. Issue 11 (November 2020) Authors: Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková,... Journal: Lancet neurology Issue: Volume 19:Issue 11(2020) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗