1. Mutations of KIF5C cause a neurodevelopmental disorder of infantile‐onset epilepsy, absent language, and distinctive malformations of cortical development. Issue 12 (19th October 2017) Authors: Michels, Savannah; Foss, Kimberly; Park, Kaylee; Golden‐Grant, Katie; Saneto, Russell; Lopez, Jonathan; Mirzaa, Ghayda M. Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature. Issue 7 (2nd May 2017) Authors: Park, Kaylee; Seltzer, Laurie E.; Tuttle, Emily; Mirzaa, Ghayda M.; Paciorkowski, Alex R. Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1951 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗