1. Identification of a Novel Gene for Diabetic Traits in Rats, Mice, and Humans. Issue 1 (1st September 2014) Authors: Tsaih, Shirng-Wern; Holl, Katie; Jia, Shuang; Kaldunski, Mary; Tschannen, Michael; He, Hong; Andrae, Jaime Wendt; Li, Shun-Hua; Stoddard, Alex; Wiederhold, Andrew; Parrington, John; Ruas da Silva, Margarida; Galione, Antony; Meigs, James; Hoffmann, Raymond G; Simpson, Pippa; Jacob, Howard; Hessne... Journal: Genetics Issue: Volume 198:Issue 1(2014) Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel–Feil and Treacher Collins syndromes. (27th October 2014) Authors: Giampietro, Philip F.; Armstrong, Linlea; Stoddard, Alex; Blank, Robert D.; Livingston, Janet; Raggio, Cathy L.; Rasmussen, Kristen; Pickart, Michael; Lorier, Rachel; Turner, Amy; Sund, Sarah; Sobrera, Nara; Neptune, Enid; Sweetser, David; Santiago‐Cornier, Alberto; Broeckel, Ulrich Journal: American journal of medical genetics Issue: Volume 167:Number 1(2015:Jan.) Page Start: 95 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗