1. Clinical and neurocognitive issues associated with Bosch‐Boonstra‐Schaaf optic atrophy syndrome: A case study. Issue 1 (15th November 2019) Authors: Bojanek, Erin K.; Mosconi, Matthew W.; Guter, Stephen; Betancur, Catalina; Macmillan, Carol; Cook, Edwin H. Journal: American journal of medical genetics Issue: Volume 182:Issue 1(2020) Page Start: 213 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Issue 5 (28th June 2021) Authors: Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian HY; Chan, Marcus CY; Fung, Jasmine LF; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie... Journal: Journal of medical genetics Issue: Volume 59:Issue 5(2022) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗