1. Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation. Issue 2 (April 2019) Authors: Bend, Eric G.; Louie, Raymond J.; Stevenson, Roger E. Journal: Clinical dysmorphology Issue: Volume 28:Issue 2(2019:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Issue 11 (21st August 2022) Authors: Levy, Michael A.; Relator, Raissa; McConkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat‐Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R.; Elting, Mariet W.; Faivre, Laurence; Fee, Timothy; ... Other Names: Scott Stuart A. guestEditor.; Wang Kai guestEditor.; Spinner Nancy B. guestEditor. Journal: Human mutation Issue: Volume 43:Issue 11(2022) Page Start: 1609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations. (13th September 2016) Authors: Bend, Eric G.; Si, Yue; Stevenson, David A.; Bayrak-Toydemir, Pinar; Newcomb, Tara M.; Jorgensen, Erik M.; Swoboda, Kathryn J. Journal: Neurology Issue: Volume 87:Number 11(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗