1. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Issue 7 (5th June 2020) Authors: Wenger, Tara L.; Bly, Randall A.; Wu, Natalie; Albert, Catherine M.; Park, Julie; Shieh, Joseph; Chenbhanich, Jirat; Heike, Carrie L.; Adam, Margaret P.; Chang, Irene; Sun, Angela; Miller, Danny E.; Beck, Anita E.; Gupta, Deepti; Boos, Markus D.; Zackai, Elaine H.; Everman, David; Ganapathi, Shir... Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1576 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. (22nd September 2017) Authors: Slavotinek, Anne; Risolino, Maurizio; Losa, Marta; Cho, Megan T; Monaghan, Kristin G; Schneidman-Duhovny, Dina; Parisotto, Sarah; Herkert, Johanna C; Stegmann, Alexander P A; Miller, Kathryn; Shur, Natasha; Chui, Jacqueline; Muller, Eric; DeBrosse, Suzanne; Szot, Justin O; Chapman, Gavin; Pachter... Journal: Human molecular genetics Issue: Volume 26:Number 24(2017:Dec. 15) Page Start: 4849 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗