1. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap cornelia de lange syndrome. Issue 1 (29th October 2013) Authors: Woods, Susan A.; Robinson, Haynes B.; Kohler, Lisa J.; Agamanolis, Dimitris; Sterbenz, George; Khalifa, Mohamed Journal: American journal of medical genetics Issue: Volume 164:Issue 1(2014.) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗