1. A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. (16th January 2019) Authors: Guillemyn, Brecht; Kayserili, Hülya; Demuynck, Lynn; Sips, Patrick; De Paepe, Anne; Syx, Delfien; Coucke, Paul J; Malfait, Fransiska; Symoens, Sofie Journal: Human molecular genetics Issue: Volume 28:Number 11(2019) Page Start: 1801 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Tissue‐specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome. Issue 4 (6th March 2017) Authors: Symoens, Sofie; Steyaert, Wouter; Demuynck, Lynn; De Paepe, Anne; Diderich, Karin E. M.; Malfait, Fransiska; Coucke, Paul J. Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1047 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗