1. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. Issue 3 (March 2018) Authors: Helgeson, Maria; Keller-Ramey, Jennifer; Knight Johnson, Amy; Lee, Jennifer A.; Magner, Daniel B.; Deml, Brett; Deml, Jacea; Hu, Ying-Ying; Li, Zejuan; Donato, Kirsten; Das, Soma; Laframboise, Rachel; Tremblay, Sandra; Krantz, Ian; Noon, Sarah; Hoganson, George; Burton, Jennifer; Schaaf, Christia... Journal: Journal of human genetics Issue: Volume 63:Issue 3(2018) Page Start: 349 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Alu‐mediated deletion of PIGL in a Patient with CHIME syndrome. Issue 5 (28th March 2017) Authors: Knight Johnson, Amy; Schaefer, Gerald Bradley; Lee, Jennifer; Hu, Ying; del Gaudio, Daniela Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1378 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗