1. 8q21.11 microdeletion in two patients with syndromic peters anomaly. Issue 9 (5th July 2016) Authors: Happ, Hannah; Schilter, Kala F.; Weh, Eric; Reis, Linda M.; Semina, Elena V. Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2471 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract. Issue 1 (December 2016) Authors: Happ, Hannah; Weh, Eric; Costakos, Deborah; Reis, Linda; Semina, Elena Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗