1. Clinical Comparison of Overlapping Deletions of 19p13.3. Issue 5 (22nd April 2013) Authors: Risheg, Hiba; Pasion, Romela; Sacharow, Stephanie; Proud, Virginia; Immken, LaDonna; Schwartz, Stuart; Tepperberg, Jim H.; Papenhausen, Peter; Tan, Tiong Y.; Andrieux, Joris; Plessis, Ghislaine; Amor, David J.; Keitges, Elisabeth A. Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Issue 5 (6th March 2017) Authors: Kernohan, Kristin D.; Dyment, David A.; Pupavac, Mihaela; Cramer, Zvi; McBride, Arran; Bernard, Genevieve; Straub, Isabella; Tetreault, Martine; Hartley, Taila; Huang, Lijia; Sell, Erick; Majewski, Jacek; Rosenblatt, David S.; Shoubridge, Eric; Mhanni, Aziz; Myers, Tara; Proud, Virginia; Vergano,... Journal: Human mutation Issue: Volume 38:Issue 5(2017) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗