1. A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes. (8th January 2019) Authors: Gershlick, David C; Ishida, Morié; Jones, Julie R; Bellomo, Allison; Bonifacino, Juan S; Everman, David B Journal: Human molecular genetics Issue: Volume 28:Number 9(2019) Page Start: 1548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders. Issue 9 (2nd December 2022) Authors: Cooley Coleman, Jessica A; Gass, Jennifer M; Srikanth, Sujata; Pauly, Rini; Ziats, Catherine A; Everman, David B; Skinner, Steven A; Bell, Shannon; Louie, Raymond J; Cascio, Lauren; Patterson, Wesley G; Jones, Julie R; Di Donato, Nataliya; Stevenson, Roger E; Boccuto, Luigi Journal: Human molecular genetics Issue: Volume 32:Issue 9(2023) Page Start: 1457 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. Issue 19 (23rd May 2022) Authors: Cordovado, Amélie; Schaettin, Martina; Jeanne, Médéric; Panasenkava, Veranika; Denommé-Pichon, Anne-Sophie; Keren, Boris; Mignot, Cyril; Doco-Fenzy, Martine; Rodan, Lance; Ramsey, Keri; Narayanan, Vinodh; Jones, Julie R; Prijoles, Eloise J; Mitchell, Wendy G; Ozmore, Jillian R; Juliette, Kali; To... Journal: Human molecular genetics Issue: Volume 31:Issue 19(2022) Page Start: 3325 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗