1. 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) ↗
2. Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing. Issue 6 (3rd September 2019) Authors: Reuter, Chloe M.; Kohler, Jennefer N.; Bonner, Devon; Zastrow, Diane; Fernandez, Liliana; Dries, Annika; Marwaha, Shruti; Davidson, Jean; Brokamp, Elly; Herzog, Matthew; Hong, Joyce; Macnamara, Ellen; Rosenfeld, Jill A.; Schoch, Kelly; Spillmann, Rebecca; Loscalzo, Joseph; Krier, Joel; Stoler, Jo... Journal: Journal of genetic counseling Issue: Volume 28:Issue 6(2019) Page Start: 1107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗