1. Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Issue 2 (23rd January 2017) Authors: Stern, D.; Cho, M.T.; Chikarmane, R.; Willaert, R.; Retterer, K.; Kendall, F.; Deardorff, M.; Hopkins, S.; Bedoukian, E.; Slavotinek, A.; Schrier Vergano, S.; Spangler, B.; McDonald, M.; McConkie‐Rosell, A.; Burton, B.K.; Kim, K.H.; Oundjian, N.; Kronn, D.; Chandy, N.; Baskin, B. Journal: Clinical genetics Issue: Volume 92:Issue 2(2017) Page Start: 221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. Issue 5 (25th January 2018) Authors: Powis, Z.; Petrik, I.; Cohen, J.S.; Escolar, D.; Burton, J.; van Ravenswaaij‐Arts, C.M.A.; Sival, D.A.; Stegmann, A.P.A.; Kleefstra, T.; Pfundt, R.; Chikarmane, R.; Begtrup, A.; Huether, R.; Tang, S.; Shinde, D.N. Journal: Clinical genetics Issue: Volume 93:Issue 5(2018) Page Start: 1030 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗