1. Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B. Issue 5 (22nd December 2016) Authors: Simhadri, Vijaya L; Hamasaki-Katagiri, Nobuko; Lin, Brian C; Hunt, Ryan; Jha, Sujata; Tseng, Sandra C; Wu, Andrew; Bentley, Amber A; Zichel, Ran; Lu, Qi; Zhu, Lily; Freedberg, Darón I; Monroe, Dougald M; Sauna, Zuben E; Peters, Robert; Komar, Anton A; Kimchi-Sarfaty, Chava Journal: Journal of medical genetics Issue: Volume 54:Issue 5(2017) Page Start: 338 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction through loss-of-function in mitochondrial protein import. Issue 13 (22nd April 2021) Authors: Lin, Brian C; Phung, Trong H; Higgins, Nicole R; Greenslade, Jessie E; Prado, Miguel A; Finley, Daniel; Karbowski, Mariusz; Polster, Brian M; Monteiro, Mervyn J Journal: Human molecular genetics Issue: Volume 30:Issue 13(2021) Page Start: 1230 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗