1. Deletion 16p13.11 uncovers NDE1 mutations on the non‐deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Issue 7 (23rd May 2013) Authors: Paciorkowski, Alex R.; Keppler‐Noreuil, Kim; Robinson, Luther; Sullivan, Christopher; Sajan, Samin; Christian, Susan L.; Bukshpun, Polina; Gabriel, Stacy B.; Gleeson, Joseph G.; Sherr, Elliott H.; Dobyns, William B. Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles. (December 2015) Authors: Kusenda, Mary; Vacic, Vladimir; Malhotra, Dheeraj; Rodgers, Linda; Pavon, Kevin; Meth, Jennifer; Kumar, Ravinesh A.; Christian, Susan L.; Peeters, Hilde; Cho, Shawn S.; Addington, Anjene; Rapoport, Judith L.; Sebat, Jonathan Other Names: Maria Bernard L. guest-editor. Journal: Journal of child neurology Issue: Volume 30:Number 14(2015:Dec.) Page Start: 1947 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗