1. 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) ↗
2. Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. Issue 4 (7th January 2018) Authors: Powis, Z.; Farwell Hagman, K.D.; Mroske, C.; McWalter, K.; Cohen, J.S.; Colombo, R.; Serretti, A.; Fatemi, A.; David, K.L.; Reynolds, J.; Immken, L.; Nagakura, H.; Cunniff, C.M.; Payne, K.; Barbaro‐Dieber, T.; Gripp, K.W.; Baker, L.; Stamper, T.; Aleck, K.A.; Jordan, E.S. Journal: Clinical genetics Issue: Volume 93:Issue 4(2018) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗