1. Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. (18th October 2019) Authors: Alankarage, Dimuthu; Szot, Justin O; Pachter, Nick; Slavotinek, Anne; Selleri, Licia; Shieh, Joseph T; Winlaw, David; Giannoulatou, Eleni; Chapman, Gavin; Dunwoodie, Sally L Journal: Human molecular genetics Issue: Volume 29:Number 7(2020) Page Start: 1068 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗