1. Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. Issue 7 (12th May 2017) Authors: Hague, Jennifer; Delon, Isabelle; Brugger, Kim; Martin, Howard; Sparnon, Leanne; Simonic, Ingrid; Abbs, Stephen; Park, Soo‐Mi Journal: American journal of medical genetics Issue: Volume 173:Issue 7(2017) Page Start: 1931 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Issue 7 (24th January 2017) Authors: Lehalle, Daphné; Mosca-Boidron, Anne-Laure; Begtrup, Amber; Boute-Benejean, Odile; Charles, Perrine; Cho, Megan T; Clarkson, Amanda; Devinsky, Orrin; Duffourd, Yannis; Duplomb-Jego, Laurence; Gérard, Bénédicte; Jacquette, Aurélia; Kuentz, Paul; Masurel-Paulet, Alice; McDougall, Carey; Moutton, Sé... Journal: Journal of medical genetics Issue: Volume 54:Issue 7(2017) Page Start: 479 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗