1. A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2. Issue 2 (6th November 2015) Authors: Fauth, Christine; Steindl, Katharina; Toutain, Annick; Farrell, Sandra; Witsch‐Baumgartner, Martina; Karall, Daniela; Joset, Pascal; Böhm, Sebastian; Baumer, Alessandra; Maier, Oliver; Zschocke, Johannes; Weksberg, Rosanna; Marshall, Christian R.; Rauch, Anita Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 392 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. (December 2015) Authors: Marshall, Christian; Farrell, Sandra; Cushing, Donna; Paton, Tara; Stockley, Tracy; Stavropoulos, Dimitri; Ray, Peter; Szego, Michael; Lau, Lynette; Pereira, Sergio; Cohn, Ronald; Wintle, Richard; Abuzenadah, Adel; Abu-Elmagd, Muhammad; Scherer, Stephen Journal: BMC genomics Issue: Volume 16:Number 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗