1. Clinical utility of next-generation sequencing for the molecular diagnosis of monogenic diabetes. (March 2014) Authors: Johnson, Amy Knight; Gaudio, Daniela del Journal: Personalized medicine Issue: Volume 11:Number 2(Year 2014) Page Start: 155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Issue 2 (14th November 2013) Authors: Cheng, Yu‐Wei; Tan, Christopher A.; Minor, Agata; Arndt, Kelly; Wysinger, Latrice; Grange, Dorothy K.; Kozel, Beth A.; Robin, Nathaniel H.; Waggoner, Darrel; Fitzpatrick, Carrie; Das, Soma; Gaudio, Daniela del Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 2(2014:Mar.) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗